Phenotypes for disease #01418 (LMPHM1 (lymphatic malformation, type 1), OMIM:153100)

101 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000041841 Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. - - Familial, autosomal dominant - - - - - Michel van Geel 00055186
0000041842 Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. - - Familial, autosomal dominant - - - - - Michel van Geel 00055187
0000041843 Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. - - Familial, autosomal dominant - - - - - Michel van Geel 00055188
0000041844 Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family. - - Familial, autosomal dominant - - - - - Michel van Geel 00055189
0000041845 Milroy Disease; Bilateral congenital lymphoedema and frequent erysipelas. - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055190
0000041846 Milroy Disease; Congenital lymphoedema - - Familial, autosomal dominant - - - - - Michel van Geel 00055191
0000041847 Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055192
0000041848 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. - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055193
0000041849 Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055194
0000041850 Milroy Disease; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055195
0000041851 Milroy Disease; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055196
0000041852 Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055197
0000041853 Milroy Disease; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Michel van Geel 00055198
0000041854 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. - - Familial, autosomal dominant - <0d <0d - - Michel van Geel 00055199
0000041855 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. - - Familial, autosomal dominant - <0d <0d - - Michel van Geel 00055200
0000041856 Milroy Disease; Sporadic, bilateral swelling below knees, upturned toe nails, mild hydrocele. - - Isolated (sporadic) - - 0d - - Michel van Geel 00055201
0000041857 Milroy Disease; Bilateral elephantiasis with chronic venous ulcerations, cellulitis and papillomatosis. FH of congenital, uni- and bilateral leg oedema. - - Familial, autosomal dominant - - - - - Michel van Geel 00055202
0000041858 Milroy Disease; Bilateral, below kneew lymphoedema. Recurrent cellulitis. - - Isolated (sporadic) - - - - - Michel van Geel 00055203
0000041859 Milroy Disease; Bilateral, mild below knee lymphoedema. Hydrocele. - - Familial, autosomal dominant - - 21y - - Michel van Geel 00055204
0000041860 Milroy Disease; Bilateral, mild below knee lymphoedema. - - Familial, autosomal dominant - - 19y - - Michel van Geel 00055205
0000041861 Milroy Disease; Bilateral swelling of dorsum of foot from birth. Positive family history. - - Familial, autosomal dominant - 0d 0d - - Michel van Geel 00055206
0000041862 Milroy Disease; Bilateral swelling of dorsum of foot from birth. - - Familial, autosomal dominant - 0d 0d - - Michel van Geel 00055207
0000041863 Milroy Disease; Typical Milroy disease with positive family history. Daughter diagnosed in utero with pedal oedema and is mutation positive. - - Familial, autosomal dominant - - - - - Michel van Geel 00055208
0000041864 Milroy Disease; Typical Milroy disease with positive family history. Father affected. - - Familial, autosomal dominant - - - - - Michel van Geel 00055209
0000041865 Milroy Disease; Typical Milroy disease with positive family history. Affected daugther. - - Familial, autosomal dominant - - - - - Michel van Geel 00055210
0000041866 Milroy Disease; Typical Milroy disease with positive family history. Son mutation positive. - - Familial, autosomal dominant - - - - - Michel van Geel 00055211
0000041867 Milroy Disease; Typical Milroy Disease with positive family history (father and cousin are mutation positive). - - Familial, autosomal dominant - - - - - Michel van Geel 00055212
0000041868 Milroy Disease; Typical Milroy disease with positive family history. Son affected. - - Familial, autosomal dominant - - - - - Michel van Geel 00055213
0000041869 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). - - Familial, autosomal dominant - - - - - Michel van Geel 00055214
0000041870 Milroy Disease; Typical Milroy disease with positive family history. Father and paternal grandmother affected. - - Familial, autosomal dominant - - - - - Michel van Geel 00055215
0000041871 Milroy Disease; Typical Milroy disease with positive family history. Daugther affected. - - Familial, autosomal dominant - - - - - Michel van Geel 00055216
0000041872 Milroy Disease; Typical Milroy disease with positive family history. Daugther mutation positive and has learning difficulties. - - Familial, autosomal dominant - - - - - Michel van Geel 00055217
0000041873 Milroy Disease; Typical Milroy disease with positive family history. Father mutation positive. - - Familial, autosomal dominant - - - - - Michel van Geel 00055218
0000041874 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. - - Isolated (sporadic) - - - - - Michel van Geel 00055219
0000041875 Milroy Disease; Typical Milroy disease with positive family history. Daugther mutation positive. - - Familial, autosomal dominant - - - - - Michel van Geel 00055220
0000041876 Milroy Disease; Typical Milroy disease with positive family history. Daugther affected. - - Familial, autosomal dominant - - - - - Michel van Geel 00055221
0000041877 Milroy Disease; Born with bilateral lower limb lymphoedema, hypoplastic 4th toe on right foot. - - Familial, autosomal recessive - 0d 0d - - Michel van Geel 00055222
0000041878 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. - - Isolated (sporadic) - <0d <0d - - Michel van Geel 00055223
0000042423 Milroy Disease; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055768
0000042424 Milroy Disease; Typical Milroy disease with positive family history. Father (mutation positive) and two sons are affected. - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055769
0000042425 Milroy Disease; Feet and lower extremeties bilaterally swollen. No other parts of the body affected. - - Familial, autosomal dominant - 0d 0d - - Pia Ostergaard 00055770
0000042426 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. - - Familial, autosomal dominant - 2y - - - Pia Ostergaard 00055771
0000042427 Milroy Disease; Typical Milroy disease with positive family history. Daugther affected (diagnosed in utero). - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055772
0000042428 Milroy Disease; Typical Milroy disease with positive family history. Father affected. - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055773
0000042429 Milroy Disease; Bilateral, to knee level mild oedema. Upslanting toe nails. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055774
0000042430 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 - - Isolated (sporadic) - 21m 0d - - Pia Ostergaard 00055775
0000042431 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. - - Isolated (sporadic) - 21m 0d - - Pia Ostergaard 00055776
0000042432 Milroy Disease; Typical Milroy disease with positive family history. Affected son. - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055777
0000042433 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. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055778
0000042434 Milroy Disease; Typical Milroy disease with positive family history. Sister, mother and grandmother affected. Resolution of oedema at 2 months in sister. - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055779
0000042435 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 - - Isolated (sporadic) - <0d <0d - - Pia Ostergaard 00055780
0000042436 Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055781
0000042437 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. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055782
0000042438 Milroy Disease; Congenital lymphoedema of both feet. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055783
0000042439 Milroy Disease; Congenital right foot lymphoedema. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055784
0000042440 Milroy Disease; Congenital lymphoedema of both feet. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055785
0000042441 Milroy Disease; Bilateral lymphoedema of both feet since childhood. - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055786
0000042442 Milroy Disease; The patient has had two miscarriages with severely hydropic foetuses. Third pregnancy with pleural effusions which resolved. - - Unknown - - - - - Pia Ostergaard 00055787
0000042443 Milroy Disease; Congenital lymphoedema of both feet, right worse than left. Prominent vein left foot. Epicanthic folds. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055788
0000042444 Milroy Disease; congenital lymphoedema of right foot. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055789
0000042445 Milroy Disease; Identical twins with congenital lymphoedema of both feet and ankles. Upslanting toenails and large calibre veins. Epicanthic folds. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055790
0000042446 Milroy Disease - - Unknown - - - - - Pia Ostergaard 00055791
0000042447 Milroy Disease - - Unknown - - 0d - - Pia Ostergaard 00055792
0000042448 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. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055793
0000042449 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. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055794
0000042450 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. - - Familial, autosomal dominant - - <0d - - Pia Ostergaard 00055795
0000042451 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. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055796
0000042452 Milroy Disease; Congenital lymphoedema of both feet.Upslanting toenails and large calibre veins. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055797
0000042453 Milroy Disease; Congenital lymphoedema of both feet. Upslanting toenails. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055798
0000042454 Milroy Disease - - Unknown - - - - - Pia Ostergaard 00055799
0000042455 Milroy Disease - - Unknown - - - - - Pia Ostergaard 00055800
0000042456 Milroy Disease - - Unknown - - 0d - - Pia Ostergaard 00055801
0000042457 Milroy Disease; Congenital lymphoedema of both feet. Swelling progressed up to both knees within two years. Upslanting toenails and large calibre veins. - - Familial, autosomal dominant - - 0d - - Pia Ostergaard 00055802
0000042458 Milroy Disease; Mild congenital lymphoedema of both feet, right affected more than the left. Prominent large calibre veins present. - - Isolated (sporadic) - - 0d - - Pia Ostergaard 00055803
0000042459 Milroy Disease; Congenital lymphoedema of both feet and hydrocoele (which spontaneously resolved). Right foot more swollen than left. Upslanting toenails and large calibre veins. - - Isolated (sporadic) - 10m 0d - - Pia Ostergaard 00055804
0000042460 Milroy Disease; Congenital lymphoedema of both feet with upslanting toenails. - - Familial, autosomal dominant - 8m 0d - - Pia Ostergaard 00055805
0000042461 Milroy Disease - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055806
0000042462 Milroy Disease - - Unknown - - - - - Pia Ostergaard 00055807
0000042463 Milroy Disease - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055808
0000042464 Milroy Disease - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055809
0000042465 Milroy Disease - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055810
0000042466 Milroy Disease; congenital bilateral lower limb lymphoedema up to the knees, with upslanting toenails and large calibre veins. - - Familial, autosomal dominant - 4m 0d - - Pia Ostergaard 00055811
0000042467 Milroy Disease; Congenital lymphoedema of both feet and ankles. Upslanting toenails and large calibre veins. - - Familial - 1y 0d - - Pia Ostergaard 00055812
0000042468 Milroy Disease; Congenital lower limb lymphoedema, learning difficulties and behavioural problems. - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055813
0000042469 Milroy Disease - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055814
0000042470 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. - - Familial, autosomal dominant - 41y 0d - - Pia Ostergaard 00055815
0000042471 Milroy Disease; Congenital bilateral lower limb lymphoedema up to the knees. Persistent plantar warts. - - Isolated (sporadic) - 0d 0d - - Pia Ostergaard 00055816
0000042472 Milroy Disease; Congenital bilateral lymphoedema of the feet. One episode of cellulitis. Family history: father had bilateral lymphoedema of the feet. - - Familial, autosomal dominant - 0d 0d - - Pia Ostergaard 00055817
0000042473 Milroy Disease; Congenital lymphoedema of both feet. Upslanting toenails. Two episodes of cellulitis. - - Familial, autosomal dominant - 0d 0d - - Pia Ostergaard 00055818
0000042474 Milroy Disease; Congenital left foot lymphoedema. Patient also has bilateral duplex kidneys. - - Isolated (sporadic) - 5m 0d - - Pia Ostergaard 00055819
0000042475 Milroy Disease - - Familial, autosomal dominant - - - - - Pia Ostergaard 00055820
0000042476 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. - - Familial, autosomal dominant - 0d 0d - - Pia Ostergaard 00055821
0000042477 Milroy Disease - - Familial, autosomal dominant - 3m 0d - - Pia Ostergaard 00055822
0000042478 Milroy Disease; ongenital bilateral lymphoedema of feet and ankles. Upslanting toenails and large calibre veins / prominent long saphenous veins. Mild epicanthic folds. - - Isolated (sporadic) - 0d <0d - - Pia Ostergaard 00055823
0000042623 Milroy Disease - - Familial - - - - - Pia Ostergaard 00055968
0000042624 Milroy Disease - - Familial - - - - - Pia Ostergaard 00055969
0000042625 Milroy Disease - - Familial - - - - - Pia Ostergaard 00055970
0000042626 Milroy Disease - - Familial - - - - - Pia Ostergaard 00055971
0000042629 Milroy Disease - - Isolated (sporadic) - - - - - Pia Ostergaard 00055974
0000122515 OHSS - - Unknown - - - - - Katrien Stouffs 00150113
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.