All individuals with variants in gene MBTPS2

73 entries on 1 page. Showing entries 1 - 73.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 6 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 8 1 Yu Sun
00105902 27380894-FamIIAPat1/II PubMed: Lindert 2016, Journal: Lindert 2016 3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II M no Germany German - 0 - - OI osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature 1 2 Cecilia Giunta
00105905 27380894-FamIIAPat2/II PubMed: Lindert 2016, Journal: Lindert 2016 Pat2/II M no Germany German 68y 0 - - OI osteogenesis imperfecta, multiple fractures, osteopenia, bowing of humeri, radii and tibiae, kyphoscoliosis, anterior vertebral wedging, short stature, fractures declined post puberty, pectus excavatum 1 1 Cecilia Giunta
00105906 27380894-Fam1PatV7 PubMed: Lindert 2016, Journal: Lindert 2016 5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7 M no Thailand AsianO - 0 - - OI osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia 1 12 Cecilia Giunta
00116638 21426410-Pat2 PubMed: Oeffner 2011 - M - - white - 0 - - IFAP syndrome with or without BRESHECK syndrome congenital ichthyosis, total alopecia, inguinal hernia, short stature, photophobia, thickened dystrophic nails; typical IFAP triad, psychomotor development normal; corneal scars 1 1 Emmelien Aten
00116639 23316014-Fam10PatII1 PubMed: Bornholdt 2013 - M ? Sweden - - 0 - - IFAP syndrome with or without BRESHECK syndrome Dry skin at birth. Follicular keratosis (inflamed) and hair-loss from 3 mo. of age. Alopecia totalis. Photophobia. Psychomotor development normal. The boy´s maternal uncle reportedly has a similar phenotype but did not wish to be investigated; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116640 23316014-Fam12PatII1 PubMed: Bornholdt 2013 2-generation family, 2 affected males M ? United Kingdom (Great Britain) - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad and follicular hyperkeratosis present from infancy; no hair or eyelashes; corneal ulceration; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay, generalised seizures, strabismus, macrocephaly (>90th centile) and frontal bossing; IFAP syndrome 1 3 Karl-Heinz Grzeschik
00116641 23316014-Fam12PatII2 PubMed: Bornholdt 2013 affected brother of Fam12PatII1, genotype not analyzed M ? United Kingdom (Great Britain) - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad and follicular hyperkeratosis; punctate epithelial erosions of the cornea with corneal vascularisation; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay; inguinal hernia; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116642 23316014-Fam12PatI1 PubMed: Bornholdt 2013 mother of Fam12PatII1 and Fam12PatII2, genotype not analyzed F ? United Kingdom (Great Britain) - - 0 - - IFAP syndrome with or without BRESHECK syndrome Single patch of alopecia; normal skin apart from eczema during childhood); normal eyes (apart from surgically-corrected strabismus); IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116643 23316014-Fam7PatII1 PubMed: Bornholdt 2013 - M no France - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad; IFAP syndrome 1 4 Karl-Heinz Grzeschik
00116644 23316014-Fam7PatI1 PubMed: Bornholdt 2013 - F ? France - - 0 - - IFAP syndrome with or without BRESHECK syndrome Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116645 23316014-Fam7PatI3 PubMed: Bornholdt 2013 sister of Fam7PatI1 F ? France - - 0 - - IFAP syndrome with or without BRESHECK syndrome Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116646 23316014-Fam7PatII2 PubMed: Bornholdt 2013 daughter of Fam7PatI3 F no France - - 0 - - IFAP syndrome with or without BRESHECK syndrome Keratosis pilaris, mainly affecting the lower limbs; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116647 23316014-Fam8PatII2 PubMed: Bornholdt 2013 - M ? Germany - - 0 - - IFAP syndrome with or without BRESHECK syndrome Complete atrichia, pronounced mental retardation, short stature, mild photophobia, scarring of cornea at age 3 y, ichthyotic skin, hyperkeratotic nails, mediastinal germ cell tumor at age 20 y; IFAP syndrome 1 2 Karl-Heinz Grzeschik
00116648 23316014-Fam8PatII1 PubMed: Bornholdt 2013 sister of Fam8PatII2 F ? Germany - - 0 - - IFAP syndrome with or without BRESHECK syndrome none reported; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116649 23316014-Fam16PatI1 PubMed: Bornholdt 2013 - M ? United States - - 0 - - IFAP syndrome with or without BRESHECK syndrome Hispanic male born at 38 weeks, pregnancy complicated by polyhydramnios. At birth diffusely red and dry skin, absent scalp hair, eyebrows, eyelashes; diffuse, spiny, keratotic follicular papules most prominent over scalp and eyebrows. At 4 weeks complete loss of scalp hair, eyebrows and eyelashes; very tiny keratotic spicules all over, most noticeable on forehead; nails normal; no keratoderma; hearing screen normal; ophthalmology exam reported as normal; no mention of photophobia. At 1 year 9 month: photophobia present; immunological abnormalities, mild B cell lymphopenia, poor antibody response. No family history of similar disorders; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116650 23316014-Fam19PatII1 PubMed: Bornholdt 2013 son of Fam19PatI1 M ? France - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad; mental retardation, vertebral anomalies; IFAP syndrome 1 2 Karl-Heinz Grzeschik
00116651 23316014-Fam19PatI1 PubMed: Bornholdt 2013 mother of Fam19PatII1 F ? France - - 0 - - IFAP syndrome with or without BRESHECK syndrome none reported; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116652 23316014-Fam15PatII1 PubMed: Bornholdt 2013 brother of Fam15PatII2 M ? Lebanon - - 0 - - IFAP syndrome with or without BRESHECK syndrome Ichthyosis follicularis; noncicatricial universal alopecia; photophobia, madarosis; corneal vascularisation; hyperkeratotic psoriasis-like lesions; nail dystrophy; inguineal herniae; cryptorchidism, short statue; seizures; psychomotor developmental delay; IFAP syndrome 1 2 Karl-Heinz Grzeschik
00116653 23316014-Fam15PatII2 PubMed: Bornholdt 2013 brother of Fam15PatII1 M ? Lebanon - - 0 - - IFAP syndrome with or without BRESHECK syndrome Ichthyosis follicularis, noncicatricial universal alopecia, photophobia, madarosis, corneal vascularisation, hyperkeratotic psoriasis-like lesions, nail dystrophy; inguineal herniae; cryptorchidism; short statue; seizures; psychomotor developmental delay; bilateral absence of 4th fingers and camptodactyly; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116654 23316014-Fam9PatII1 PubMed: Bornholdt 2013 - M ? Germany - - 0 - - IFAP syndrome with or without BRESHECK syndrome Congenital ichthyosis with dry skin and mild scaling, follicular keratosis of capillitium with mild erythema, primary universal alopecia, no eyebrows, very small eyelashes, pronounced follicular keratoses on knees and over the Achilles tendon, patches of â??psoriasiform skin lesionsâ? on the lower legs (at age of 3 y), generalized hypohidrosis, history of perioral eczema. Histology: Ichthyosis follicularis, atrichia, hyperkeratosis of the sweet gland ducts. Neurology: delayed speech development, EEG normal. ENT: Moderate hearing deficit (> 40 db). Others: Mild syndactyly of the toe, inguinal hernia at the age of 4y; IFAP syndrome 1 3 Karl-Heinz Grzeschik
00116655 23316014-Fam9PatI1 PubMed: Bornholdt 2013 mother of Fam9PatII1 and Fam9PatII2 F ? Germany - - 0 - - IFAP syndrome with or without BRESHECK syndrome Striate hyperkeratosis along Blaschko lines of both legs and soles with striate hypohidrosis (sweat testing). Histology from affected areas: ichthyosis follicularis; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116656 23316014-Fam9PatII2 PubMed: Bornholdt 2013 sister of Fam9PatII1 F ? Germany - - 0 - - IFAP syndrome with or without BRESHECK syndrome Delayed speech development, skin phenotype:none reported; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116657 23316014-Fam13PatI1 PubMed: Bornholdt 2013 - M ? Algeria - - 0 - - IFAP syndrome with or without BRESHECK syndrome At 2 years of age: non inflammatory diffuse follicular hyperkeratosis, noncicatricial generalised congenital alopecia, and photophobia; ophthalmologic examination normal; onychodystrophia of third toe of right foot (mycologic examination negative); right cryptorchidism; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116658 23316014-Fam11PatII1 PubMed: Bornholdt 2013 - M ? Syria - - 0 - - IFAP syndrome with or without BRESHECK syndrome Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome 1 2 Karl-Heinz Grzeschik
00116659 23316014-Fam11PatII2 PubMed: Bornholdt 2013 brother of Fam11PatII1 M ? Syria - - 0 - - IFAP syndrome with or without BRESHECK syndrome Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116660 23316014-Fam14PatII1 PubMed: Bornholdt 2013 - M ? Netherlands - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP; mild psychomotor delay; inguinal hernia; IFAP syndrome 1 2 Karl-Heinz Grzeschik
00116661 23316014-Fam14PatI1 PubMed: Bornholdt 2013 mother of Fam14PatII1 F ? Netherlands - - 0 - - IFAP syndrome with or without BRESHECK syndrome Normal phenotype, without IFAP related problems; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116662 23316014-Fam18PatII2 PubMed: Bornholdt 2013 - M ? Sweden - - 0 - - KFSDX At birth dry, itchy skin, photophobia; at age 4 y corneal dots; at age 8 y widespread follicular hyperkeratosis, red cheeks, and thin eyebrows; hair on scalp appears normal; without family history of KFSD 1 1 Karl-Heinz Grzeschik
00116663 23316014-Fam17PatI1 PubMed: Bornholdt 2013 - M ? Sri Lanka - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad; reduced sweating, normal nails and teeth, marked ichthyosis over pressure areas, extensor surfaces of limbs, buttock cleft; poor vision, myopia; severe photophobia, corneal scars; hoarse voice with vocal nodules; psychomotor development normal; height and weight <0.4th centile, OFC 9-25th centile; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116664 19361614-Fam1PatI2 PubMed: Oeffner 2009 3-generation family, 5 affected carriers (3F, 2M), Fam1PatI2 F - Germany European - 0 - - ? dry skin, congenital bald patches scalp 1 5 Emmelien Aten
00116665 19361614-Fam1PatII2 PubMed: Oeffner 2009 Fam1PatII2 F - Germany European - 0 - - ? dry skin, congenital bald patches scalp, asymmetrical distribution body hair, linear lesions of scaling, atrophy/hypohidrosis arms/back; atypical 1 1 Emmelien Aten
00116666 19361614-Fam1PatII5 PubMed: Oeffner 2009 Fam1PatII5 M - Germany European - 0 - - IFAP syndrome with or without BRESHECK syndrome death 1y; IFAP triad, pronounced photophobia; IFAPS 1 1 Emmelien Aten
00116667 19361614-Fam1PatIII1 PubMed: Oeffner 2009 Fam1PatIII1 M - Germany European - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad, eczematous changes shoulders/limbs, frequent skin infections, nail dystrophy, ptosis left upper eyelid; IFAPS 1 1 Emmelien Aten
00116668 19361614-Fam1PatIII2 PubMed: Oeffner 2009 Fam1PatIII2 F - Germany European - 0 - - ? dry skin, linear lesions of scaling and atrophy, predominantly involving the left arm, congenital bald area scalp; atypical 1 1 Emmelien Aten
00116669 19361614-Fam2PatI2 PubMed: Oeffner 2009 4-generation family, 4 affected carriers (2F, 2M)/3 unaffected carriers (3F), Fam2PatI2 F - Australia European - 0 - - ? sparse hair 1 7 Emmelien Aten
00116670 19361614-Fam2PatII2 PubMed: Oeffner 2009 Fam2PatII2 F - Australia European - 0 - - ? unaffected carrier 1 1 Emmelien Aten
00116671 19361614-Fam2PatII8 PubMed: Oeffner 2009 Fam2PatII8 M - Australia European - 0 - - IFAP syndrome with or without BRESHECK syndrome born with hair, subsequently developed alopecia, dystrophic fingernails; atypical; IFAPS 1 1 Emmelien Aten
00116672 19361614-Fam2PatIII1 PubMed: Oeffner 2009 Fam2PatIII1 M - Australia European - 0 - - IFAP syndrome with or without BRESHECK syndrome birth-full head dark hair; 4m-hair shed, no new hair appeared (scalp/eyebrows); 18m-total alopecia, complete absence scalp hair, eyebrows, diminutive eyelashes, dry skin widespread follicular papules, normal teeth, no dysmorphic features, not photophobic, sweat test normal; 10y-prominent generalized follicular ichthyosis, dystrophy fingernails, mild photophobia, astigmatism, recurrent staphylococcal folliculitis, psoriasiform plaques elbows, knees, Achilles tendons; IFAPS 1 1 Emmelien Aten
00116673 19361614-Fam2PatIII10 PubMed: Oeffner 2009 Fam2PatIII10 F - Australia European - 0 - - ? unaffected carrier 1 1 Emmelien Aten
00116674 19361614-Fam2PatIII2 PubMed: Oeffner 2009 Fam2PatIII2 F - Australia European - 0 - - ? 13y-parse scalp hair, dystrophic fingernails 1 1 Emmelien Aten
00116675 19361614-Fam2PatIII9 PubMed: Oeffner 2009 Fam2PatIII9 F - Australia European - 0 - - ? patchy scalp hair, dystrophic fingernails 1 1 Emmelien Aten
00116676 19361614-Fam2PatIV2 PubMed: Oeffner 2009 Fam2PatIV2 M - Australia European - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad, dystrophic nails, perleche; IFAPS 1 1 Emmelien Aten
00116677 19361614-Fam3PatI2 PubMed: Oeffner 2009 3-generation family, 6 affected carriers (2F, 4M)/3 unaffected carriers (3F), Fam2PatI2 F - Germany European - 0 - - ? dry skin 1 9 Emmelien Aten
00116678 19361614-Fam3PatII2 PubMed: Oeffner 2009 Fam3PatII2 F - Germany European - 0 - - ? linear lesions atrophoderma, linear hairless scalp lesion, hyperkeratotic plaque right knee, bilateral plantar keratoderma; atypical 1 1 Emmelien Aten
00116679 19361614-Fam3PatII4 PubMed: Oeffner 2009 Fam3PatII4 F - Germany European - 0 - - ? linear lesions atrophoderma, partial absence retinal rods (right eye); atypical 1 1 Emmelien Aten
00116680 19361614-Fam3PatII5 PubMed: Oeffner 2009 Fam3PatII5 F - Germany European - 0 - - ? unaffected carrier 1 1 Emmelien Aten
00116681 19361614-Fam3PatII6 PubMed: Oeffner 2009 Fam3PatII6 M - Germany European - 0 - - ? death neonatal period; atrichia, cleft hand; lethal 1 1 Emmelien Aten
00116682 19361614-Fam3PatII7 PubMed: Oeffner 2009 Fam3PatII7 M - Germany European - 0 - - ? death neonatal period; atrichia, cleft hand; lethal 1 1 Emmelien Aten
00116683 19361614-Fam3PatIII1 PubMed: Oeffner 2009 Fam3PatIII1 F - Germany European - 0 - - ? unaffected carrier 1 1 Emmelien Aten
00116684 19361614-Fam3PatIII3 PubMed: Oeffner 2009 Fam3PatIII3 M - Germany European - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAPS 1 1 Emmelien Aten
00116685 19361614-Fam3PatIII4 PubMed: Oeffner 2009 Fam3PatIII4 M - Germany European - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAPS 1 1 Emmelien Aten
00116686 19361614-Fam4PatI1 PubMed: Oeffner 2009 mildly affected mother (dry skin, bald patches scalp) M - Spain European - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad with pronounced photophobia, dermatitis arms/legs, corneal pannus; IFAPS 1 1 Emmelien Aten
00116687 19361614-Fam5PatI1 PubMed: Oeffner 2009, PatIV8 in PubMed: Boente 2000 - M - Argentina European - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad, hyperkeratosis around joints, perlèche, perianal erythema, plantar keratoderma, subungual hyperkeratoses, periungual erythema and hyperkeratosis, inguinal hernia, cryptorchidism; IFAPS 1 1 Emmelien Aten
00116688 19361614-Fam6PatI2 PubMed: Oeffner 2009 ion family, 2 affected brothers and carrier mother PatI2 F - Algeria - - 0 - - ? - 1 3 Emmelien Aten
00116689 19361614-Fam6PatII1 PubMed: Oeffner 2009 Fam6PatII1 M - Algeria - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad; see paper ... 1 1 Emmelien Aten
00116690 19361614-Fam6PatII4 PubMed: Oeffner 2009 Fam6PatII4 M - Algeria - - 0 - - IFAP syndrome with or without BRESHECK syndrome IFAP triad; IFAPS 1 1 Emmelien Aten
00116691 - PubMed: Ming 2009 maternal second cousin of 19361614.Fam2-I.2, mother of 19361614.Fam2-III.1 / .2 M - Australia European - 0 - - IFAP syndrome with or without BRESHECK syndrome scalp alopecia; IFAPS 1 1 Emmelien Aten
00116692 20545687-FamPatIII1 PubMed: Ding 2010 3-generation family, carrier mother with 2 affected brothers, PatIII.2 M - China - - 0 - - IFAP syndrome with or without BRESHECK syndrome born with full head of hair. dry and rough skin. hypotrochosis at age 9. mild photophobia. mild myopia; IFAP syndrome; no intellectual disability 1 2 Emmelien Aten
00116693 20545687-FamPatIII2 PubMed: Ding 2010 PatIII2 M - China - - 0 - - IFAP syndrome with or without BRESHECK syndrome born with full head of hair, later patchy alopecia. photophobia. left inguinal hernia. widespread follicular papules; IFAP syndrome; no intellectual disability 1 1 Emmelien Aten
00116694 20672378-FamA PubMed: van Osch 1992, PubMed: Oosterwijk 1997, PubMed: Aten 2010 large 8-generation family, 21 male affecteds and 12 carriers M - Netherlands - - 0 - - KFSDX variable phenotype in females correlating with X-inactivation; normal plasma lipid profile; KFSD 1 33 Emmelien Aten
00116695 20672378-FamB PubMed: Aten 2010 large 4-generation family, 5 male affecteds and 3 carriers M - United States - - 0 - - KFSDX KFSD 1 8 Emmelien Aten
00116696 20672378-FamC PubMed: Porteous 1998, PubMed: Aten 2010 unrelated families M - United Kingdom (Great Britain) - - 0 - - KFSDX KFSD 1 1 Emmelien Aten
00116697 - - - M - Japan - - 0 - - IFAP syndrome with or without BRESHECK syndrome congenital alopecia. photophobia. seizures. bilateral cryptorchidism. generalized skin dryness. thickened nails. delayed bone age. growth retardation. psychomotor retardation; IFAP syndrome; intellectual disability 1 1 Emmelien Aten
00116699 - - borther of Fam1.b M - United Kingdom (Great Britain) - - 0 - - IFAP syndrome with or without BRESHECK syndrome 7y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS 1 1 Emmelien Aten
00116700 - - borther of Fam1.a M - United Kingdom (Great Britain) - - 0 - - IFAP syndrome with or without BRESHECK syndrome 4y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS 1 1 Emmelien Aten
00116701 - - mother has several mild symptoms M - United Kingdom (Great Britain) - - 0 - - IFAP syndrome with or without BRESHECK syndrome 3y-IFAP, corneal scarring, developmental delay, growth retardation; IFAPS 1 2 Emmelien Aten
00116702 - - - M - United Kingdom (Great Britain) - - 0 - - IFAP syndrome with or without BRESHECK syndrome 15y-IFAP, developmental delay, head tilt; IFAPS 1 1 Emmelien Aten
00116703 - - - F - - - - 0 - - ? GWA 1 1 Emmelien Aten
00116704 - - variant reported by LDGA - - Canada - - 0 - - ? kfsd/ifap 1 1 Emmelien Aten
00116705 - PubMed: Tang - M - China - - 0 - - IFAP syndrome with or without BRESHECK syndrome congenital alopecia, photophobia, absent eyebrows and eyelashes (total atrichia). scaly plaques on scalp, extensor part extremities. spiny keratotic follicular papules abdomen and axillae. impaired vision. delayed bone age. MR; IFAP syndrome; intellectual disability; Ocular_changes 2 1 Emmelien Aten
00116706 21426410-Pat3 PubMed: Oeffner 2011 - M - - Ashkenazi jewish - 0 - - IFAP syndrome with or without BRESHECK syndrome typical IFAP, see paper ... 1 1 Johan den Dunnen
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