
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00055186 |
- |
PubMed: Ferrell 1998, PubMed: Karkkainen 2000 |
- |
- |
no |
(United States) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. |
1 |
1 |
Michel van Geel |
00055187 |
- |
PubMed: Ferrell 1998, PubMed: Karkkainen 2000 |
- |
- |
no |
(United States) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. |
1 |
1 |
Michel van Geel |
00055188 |
- |
PubMed: Ferrell 1998, PubMed: Karkkainen 2000 |
- |
- |
no |
(United States) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. |
1 |
1 |
Michel van Geel |
00055189 |
- |
PubMed: Ferrell 1998, PubMed: Karkkainen 2000 |
- |
- |
no |
(United States) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. |
1 |
1 |
Michel van Geel |
00055190 |
- |
PubMed: Irrthum 2000 |
- |
M |
no |
Afghanistan |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral congenital lymphoedema and frequent erysipelas. |
1 |
1 |
Michel van Geel |
00055191 |
- |
PubMed: Evans 2003 |
- |
- |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema |
1 |
1 |
Michel van Geel |
00055192 |
- |
PubMed: Evans 1999, PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema |
1 |
1 |
Michel van Geel |
00055193 |
- |
PubMed: Evans 1999, PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
Irish |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema. Variable expression within family; unilateral/bilateral oedema incl. skin thickening associated with hyperkeratosis and papillomatosis. No evidenc e of edema in hands, face, trunk or sacrum. |
1 |
1 |
Michel van Geel |
00055194 |
- |
PubMed: Evans 1999, PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema |
1 |
1 |
Michel van Geel |
00055195 |
- |
PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema |
1 |
1 |
Michel van Geel |
00055196 |
- |
PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema |
1 |
1 |
Michel van Geel |
00055197 |
- |
PubMed: Evans 1999, PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema |
1 |
1 |
Michel van Geel |
00055198 |
- |
PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema |
1 |
1 |
Michel van Geel |
00055199 |
- |
PubMed: Spiegel 2005, PubMed: Spiegel 2006 |
- |
F |
? |
- |
Arabic |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral profound foot edema to ankle level. Upslanting toe nails. In utero prenatal diagnosis of bilateral edema of feet at 15 weeks gestation. Hydrops fetalis, massive bilateral hydrothorax, skin and scal edema and minimal ascites. All resolved spontaneously after birth and at 12 months: only bilateral foot edema. |
1 |
1 |
Michel van Geel |
00055200 |
- |
PubMed: Lev-Sagie 2003, PubMed: Ghalamkarpour 2006 |
- |
F |
no |
(Belgium) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described by Lev-Sagie et al 2003; pregnancy terminated; Bilateral leg oedema. Bilateral pleural effusion at 22wks gestation, pulmonary hypoplasia due to severe bilateral hydrothorax. FH of congenital oedema of legs with variable degree of severity. |
1 |
1 |
Michel van Geel |
00055201 |
- |
PubMed: Ghalamkarpour 2006 |
No FH. |
M |
no |
(Belgium) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Sporadic, bilateral swelling below knees, upturned toe nails, mild hydrocele. |
1 |
1 |
Michel van Geel |
00055202 |
- |
PubMed: Ghalamkarpour 2006 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral elephantiasis with chronic venous ulcerations, cellulitis and papillomatosis. FH of congenital, uni- and bilateral leg oedema. |
1 |
1 |
Michel van Geel |
00055203 |
- |
PubMed: Ghalamkarpour 2006 |
No FH. |
M |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral, below kneew lymphoedema. Recurrent cellulitis. |
1 |
1 |
Michel van Geel |
00055204 |
- |
PubMed: Butler 2007 |
- |
M |
no |
(United States) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral, mild below knee lymphoedema. Hydrocele. |
1 |
1 |
Michel van Geel |
00055205 |
- |
PubMed: Yu 2007 |
- |
M |
no |
(China) |
China |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral, mild below knee lymphoedema. |
1 |
1 |
Michel van Geel |
00055206 |
- |
PubMed: Futatani 2008 |
- |
F |
no |
(Japan) |
Japan |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral swelling of dorsum of foot from birth. Positive family history. |
1 |
1 |
Michel van Geel |
00055207 |
- |
PubMed: Futatani 2008 |
Positive family history. |
M |
no |
(Japan) |
Japan |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral swelling of dorsum of foot from birth. |
1 |
1 |
Michel van Geel |
00055208 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Daughter diagnosed in utero with pedal oedema and is mutation positive. |
1 |
2 |
Michel van Geel |
00055209 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Father affected. |
1 |
2 |
Michel van Geel |
00055210 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Affected daugther. |
1 |
2 |
Michel van Geel |
00055211 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Son mutation positive. |
1 |
2 |
Michel van Geel |
00055212 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy Disease with positive family history (father and cousin are mutation positive). |
1 |
3 |
Michel van Geel |
00055213 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Son affected. |
1 |
2 |
Michel van Geel |
00055214 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Brother mutation positive. Mother is clinically unaffected and mutation positive. Rare polymorphism P1008L found in trans in this family (present in the father). |
1 |
1 |
Michel van Geel |
00055215 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Father and paternal grandmother affected. |
1 |
3 |
Michel van Geel |
00055216 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Daugther affected. |
1 |
2 |
Michel van Geel |
00055217 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Daugther mutation positive and has learning difficulties. |
1 |
2 |
Michel van Geel |
00055218 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Father mutation positive. |
1 |
2 |
Michel van Geel |
00055219 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Lymphoedema clinically typical of Milroy disease with congenital onset. Glaucoma and learning difficulties. No FH. Connell et al 2009 suggest that htis patient has two separate aetiologies. |
1 |
1 |
Michel van Geel |
00055220 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Daugther mutation positive. |
1 |
2 |
Michel van Geel |
00055221 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Daugther affected. |
1 |
2 |
Michel van Geel |
00055222 |
- |
PubMed: Ghalamkarpour 2009 |
No FH, unaffected parents. |
F |
yes |
(Belgium) |
Hispanic |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Born with bilateral lower limb lymphoedema, hypoplastic 4th toe on right foot. |
1 |
1 |
Michel van Geel |
00055223 |
- |
PubMed: Ghalamkarpour 2009 |
- |
M |
no |
(Belgium) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; At 24 wk gestation: subcutaneous oedema involving prefrontal, upper lip, upper limbs, and lower limbs. In utero generalized oedema regressed prenatally. At 4 days of age: developed ascites, which resorbed spontaneously on fasting from days 25-36. Oedema limited to lower extremity by 2 months of age. No FH of lymphoedema or hydrops fetalis. |
1 |
1 |
Michel van Geel |
00055768 |
- |
PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema |
1 |
1 |
Pia Ostergaard |
00055769 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Father (mutation positive) and two sons are affected. |
1 |
4 |
Pia Ostergaard |
00055770 |
- |
PubMed: Mizuno 2005 |
- |
F |
no |
Japan |
Japan |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Feet and lower extremeties bilaterally swollen. No other parts of the body affected. |
1 |
1 |
Pia Ostergaard |
00055771 |
- |
PubMed: Verstraeten 2009 |
Both parents no clinically visible oedema, but mother confirmed asymptomatic carrier. |
M |
no |
- |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, half-sister, mutation positive. First seen at 11yr of age: bilateral lymphoedema of lower limbs and feet. Varicose veins. Venous ultrasound imaging revealed insufficiency of sapheno-femoral junction and greater saphenous vein.; First seen at 2 yr of age: unilateral lymphoedema of left lower limb and foot. |
1 |
3 |
Pia Ostergaard |
00055772 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Daugther affected (diagnosed in utero). |
1 |
2 |
Pia Ostergaard |
00055773 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Father affected. |
1 |
2 |
Pia Ostergaard |
00055774 |
- |
PubMed: Kitsiou-Tzeli 2010 |
FHx: father mutation positive but asymptomatic. |
M |
no |
Greece |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral, to knee level mild oedema. Upslanting toe nails. |
1 |
2 |
Pia Ostergaard |
00055775 |
- |
PubMed: Carver 2007, PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Carver et al 2007; Bilateral, below knee lymphoedema. Upturned toenails, large calibre vein. Right leg more swollen than left. No FH |
1 |
1 |
Pia Ostergaard |
00055776 |
- |
PubMed: Carver 2007, PubMed: Connell 2009 |
- |
M |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Carver et al 2007; Left leg below knee lymphoedema from birth, right leg noted later. No FH. Grandmother with varicose veins. |
1 |
1 |
Pia Ostergaard |
00055777 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Affected son. |
1 |
2 |
Pia Ostergaard |
00055778 |
- |
PubMed: Ghalamkarpour 2006 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral oedema below knees most prominently below ankles. FH of congenital lower limb oedema. Oedema in father of patient spontaneously and permanently resorbed. |
1 |
2 |
Pia Ostergaard |
00055779 |
- |
PubMed: Connell 2009 |
- |
- |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Typical Milroy disease with positive family history. Sister, mother and grandmother affected. Resolution of oedema at 2 months in sister. |
1 |
4 |
Pia Ostergaard |
00055780 |
- |
PubMed: Ghalamkarpour 2009 |
- |
M |
? |
(Belgium) |
African |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; At 14wk gestation: hydrops fetalis with chylous ascites, lower limb oedema, thickening of subcutaneous folds. At 32wk the ascites had disappeared and oedema limited to lower limbs. After birth: bilateral below knee lymphoedema. No FH of hydrops fetalis nor lymphoedema |
1 |
1 |
Pia Ostergaard |
00055781 |
- |
PubMed: Evans 1999, PubMed: Evans 2003 |
- |
- |
no |
(United Kingdom (Great Britain)) |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema |
1 |
1 |
Pia Ostergaard |
00055782 |
- |
PubMed: Gordon 2012 |
Family history: two sisters, mother and maternal grandmother affected. Son and nephew have hydrocoeles. |
M |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital right foot lymphoedema. Left foot swelling developed within two years. Upslanting toenails and prominent large calibre veins present. FHx: mother and maternal grandmother had childhood onset congenital lymphoedema of the feet. 2 affected sisters (one has a son with a hydrocele). Patients son also has a hydrocele. |
1 |
7 |
Pia Ostergaard |
00055783 |
- |
PubMed: Gordon 2012 |
Family history: son has congenital lymphoedema of the right foot. Her father had bilateral hydrocoeles. Paternal great-grandmother had bilateral lower limb lymphoedema. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet. |
1 |
4 |
Pia Ostergaard |
00055784 |
- |
PubMed: Gordon 2012 |
His son has the same phenotype. Distant cousin of Ped 2. |
M |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital right foot lymphoedema. |
1 |
2 |
Pia Ostergaard |
00055785 |
- |
PubMed: Gordon 2012 |
Family history: his father is an asymptomatic carrier of VEGFR3 mutation. |
M |
no |
(United Kingdom (Great Britain)) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet. |
1 |
1 |
Pia Ostergaard |
00055786 |
- |
PubMed: Gordon 2012 |
- |
F |
no |
Finland |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Bilateral lymphoedema of both feet since childhood. |
1 |
2 |
Pia Ostergaard |
00055787 |
- |
PubMed: Gordon 2012 |
- |
F |
no |
(United Kingdom (Great Britain)) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; The patient has had two miscarriages with severely hydropic foetuses. Third pregnancy with pleural effusions which resolved. |
1 |
3 |
Pia Ostergaard |
00055788 |
- |
PubMed: Gordon 2012 |
Family history: brother has congenital lymphoedema of both feet. Mother is an asymptomatic carrier. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet, right worse than left. Prominent vein left foot. Epicanthic folds. |
1 |
3 |
Pia Ostergaard |
00055789 |
- |
PubMed: Gordon 2012 |
Family history: two cousins with congenital lymphoedema of both feet. His mother and uncle are asymptomatic carriers. |
M |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; congenital lymphoedema of right foot. |
1 |
5 |
Pia Ostergaard |
00055790 |
- |
PubMed: Gordon 2012 |
Family history: mother is an asymptomatic carrier, but maternal grandmother and great-grandmother had bilateral lower limb lymphoedema. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Identical twins with congenital lymphoedema of both feet and ankles. Upslanting toenails and large calibre veins. Epicanthic folds. |
1 |
4 |
Pia Ostergaard |
00055791 |
- |
PubMed: Gordon 2012 |
- |
F |
no |
Belgium |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055792 |
- |
PubMed: Gordon 2012 |
- |
M |
no |
Belgium |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055793 |
- |
PubMed: Gordon 2012 |
Family history: son has congenital lymphoedema of both feet. Brother, uncle and grandfather also affected. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; congenital lymphoedema of both feet, right worse than the left. Upslanting toenails and large calibre veins. Lymphoscintigraphy showed typical findings of functional aplasia of lymphatics in right leg, but normal main lymph tracts were seen in left leg. |
1 |
5 |
Pia Ostergaard |
00055794 |
- |
PubMed: Gordon 2012 |
Family history: sister, nephew, uncle and grandfather have lower limb lymphoedema. |
M |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; congenital bilateral lower limb lymphoedema up to the mid-calf. Bilateral large calibre veins. Warts on dorsum of both feet. Bilateral hydrocoeles, left worse than right. |
1 |
5 |
Pia Ostergaard |
00055795 |
- |
PubMed: Gordon 2012 |
- |
M |
no |
(United Kingdom (Great Britain)) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Generalised congenital swelling when born prematurely at 32 weeks gestation. The generalised swelling rapidly resolved but he has residual lymphoedema of both feet. Family history: father has hydrocoele but no lymphoedema (has VEGFR3 mutation), cousin has congenital lymphoedema of one foot. |
1 |
3 |
Pia Ostergaard |
00055796 |
- |
PubMed: Gordon 2012 |
Family history: son, daughter and brother are similarly affected. |
M |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet. By the age of 30 years he developed moderate lymphoedema up to the knees, left worse than the right. Upslanting toenails and large calibre veins. |
1 |
4 |
Pia Ostergaard |
00055797 |
- |
PubMed: Gordon 2012 |
Family history: father has lymphoedema of left foot. |
M |
no |
Lithuania |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet.Upslanting toenails and large calibre veins. |
1 |
2 |
Pia Ostergaard |
00055798 |
- |
PubMed: Gordon 2012 |
Family history: mother has congenital lymphoedema of both feet. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet. Upslanting toenails. |
1 |
2 |
Pia Ostergaard |
00055799 |
- |
PubMed: Gordon 2012 |
- |
? |
? |
United Kingdom (Great Britain) |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055800 |
- |
PubMed: Gordon 2012 |
- |
? |
? |
Netherlands |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055801 |
- |
PubMed: Gordon 2012 |
- |
F |
? |
(Belgium) |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055802 |
- |
PubMed: Gordon 2012 |
Family history: father has bilateral below-knee lymphoedema and hydrocoele. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet. Swelling progressed up to both knees within two years. Upslanting toenails and large calibre veins. |
2 |
2 |
Pia Ostergaard |
00055803 |
- |
PubMed: Gordon 2012 |
- |
M |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Mild congenital lymphoedema of both feet, right affected more than the left. Prominent large calibre veins present. |
1 |
1 |
Pia Ostergaard |
00055804 |
- |
PubMed: Gordon 2012 |
- |
M |
no |
(United Kingdom (Great Britain)) |
white/Indian |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet and hydrocoele (which spontaneously resolved). Right foot more swollen than left. Upslanting toenails and large calibre veins. |
1 |
1 |
Pia Ostergaard |
00055805 |
- |
PubMed: Gordon 2012 |
Family history: mother and maternal aunt both have bilateral lower limb lymphoedema with onset in childhood. |
M |
no |
United Kingdom (Great Britain) |
Indian |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet with upslanting toenails. |
1 |
3 |
Pia Ostergaard |
00055806 |
- |
PubMed: Gordon 2012 |
- |
F |
no |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055807 |
- |
PubMed: Gordon 2012 |
- |
? |
? |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055808 |
- |
PubMed: Gordon 2012 |
- |
? |
? |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
2 |
Pia Ostergaard |
00055809 |
- |
PubMed: Gordon 2012 |
family, 3 affected |
M |
no |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
3 |
Pia Ostergaard |
00055810 |
- |
PubMed: Gordon 2012 |
- |
M |
no |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055811 |
- |
PubMed: Gordon 2012 |
Family history: son has congenital below-knee lymphoedema and hydrocoele. Mother, aunt and grandmother also affected. |
- |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; congenital bilateral lower limb lymphoedema up to the knees, with upslanting toenails and large calibre veins. |
1 |
5 |
Pia Ostergaard |
00055812 |
- |
PubMed: Gordon 2012 |
Family history: father has late-onset left below-knee lymphoedema. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet and ankles. Upslanting toenails and large calibre veins. |
1 |
1 |
Pia Ostergaard |
00055813 |
- |
PubMed: Gordon 2012 |
Family history: sister has bilateral lower limb lymphoedema. Father is an asymptomatic carrier. |
M |
no |
(United Kingdom (Great Britain)) |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lower limb lymphoedema, learning difficulties and behavioural problems. |
1 |
3 |
Pia Ostergaard |
00055814 |
- |
PubMed: Gordon 2012 |
family, 2 affected |
M |
no |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
2 |
Pia Ostergaard |
00055815 |
- |
PubMed: Gordon 2012 |
Family history: son has congenital lymphoedema of both feet. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet. Large calibre veins present. Two episodes of cellulitis. Lymphoscintigraphy showed atypical findings of reflux of lymph within main tracts of both lower limbs. |
1 |
2 |
Pia Ostergaard |
00055816 |
- |
PubMed: Gordon 2012 |
- |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital bilateral lower limb lymphoedema up to the knees. Persistent plantar warts. |
1 |
1 |
Pia Ostergaard |
00055817 |
- |
PubMed: Gordon 2012 |
- |
F |
no |
(United Kingdom (Great Britain)) |
Any other mixed background |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital bilateral lymphoedema of the feet. One episode of cellulitis. Family history: father had bilateral lymphoedema of the feet. |
1 |
2 |
Pia Ostergaard |
00055818 |
- |
PubMed: Gordon 2012 |
Family history: her son has congenital lymphoedema of both feet, with large calibre veins and bilateral hydocoeles. Her brother has congenital lymphoedema of both feet. |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital lymphoedema of both feet. Upslanting toenails. Two episodes of cellulitis. |
1 |
3 |
Pia Ostergaard |
00055819 |
- |
PubMed: Gordon 2012 |
- |
F |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital left foot lymphoedema. Patient also has bilateral duplex kidneys. |
1 |
1 |
Pia Ostergaard |
00055820 |
- |
PubMed: Gordon 2012 |
family, 4 affected |
M |
no |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
4 |
Pia Ostergaard |
00055821 |
- |
PubMed: Gordon 2012 |
FHx: father also has mutation. |
M |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; Congenital swelling of right foot. Swelling progressed over next 4 months up to the mid-calf. Upslanting toenails and large calibre veins of right leg. Very mild swelling of left foot with upslanting toenails. |
1 |
2 |
Pia Ostergaard |
00055822 |
- |
PubMed: Gordon 2012 |
family, 3 affected |
F |
no |
Spain |
white? |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
3 |
Pia Ostergaard |
00055823 |
- |
PubMed: Gordon 2012 |
- |
- |
no |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease; ongenital bilateral lymphoedema of feet and ankles. Upslanting toenails and large calibre veins / prominent long saphenous veins. Mild epicanthic folds. |
1 |
1 |
Pia Ostergaard |
00055968 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055969 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055970 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055971 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00055974 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LMPHM1 |
Milroy Disease |
1 |
1 |
Pia Ostergaard |
00150113 |
- |
- |
- |
- |
no |
Turkey |
- |
- |
- |
- |
- |
LMPHM1 |
OHSS |
1 |
1 |
Katrien Stouffs |