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Phenotypes for disease #01059 (IFAP syndrome with/without BRESHECK syndrome, OMIM:308205)
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
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46 entries on 1 page. Showing entries 1 - 46.
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Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000092117
congenital ichthyosis, total alopecia, inguinal hernia, short stature, photophobia, thickened dystrophic nails; typical IFAP triad, psychomotor development normal; corneal scars
-
-
Unknown
28y
-
00y00m01d
-
-
Emmelien Aten
00116638
0000092119
death 1y; IFAP triad, pronounced photophobia; IFAPS
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116666
0000092120
IFAP triad, eczematous changes shoulders/limbs, frequent skin infections, nail dystrophy, ptosis left upper eyelid; IFAPS
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116667
0000092121
born with hair, subsequently developed alopecia, dystrophic fingernails; atypical; IFAPS
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116671
0000092122
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
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116672
0000092123
IFAP triad, dystrophic nails, perleche; IFAPS
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116676
0000092126
IFAPS
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116684
0000092127
IFAPS
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116685
0000092128
IFAP triad with pronounced photophobia, dermatitis arms/legs, corneal pannus; IFAPS
-
-
Isolated (sporadic)
-
-
-
-
-
Emmelien Aten
00116686
0000092129
IFAP triad, hyperkeratosis around joints, perlèche, perianal erythema, plantar keratoderma, subungual hyperkeratoses, periungual erythema and hyperkeratosis, inguinal hernia, cryptorchidism; IFAPS
-
-
Isolated (sporadic)
-
-
-
-
-
Emmelien Aten
00116687
0000092130
IFAP triad; see paper ...
-
-
Isolated (sporadic)
-
-
-
-
-
Emmelien Aten
00116689
0000092131
IFAP triad; IFAPS
-
-
Isolated (sporadic)
-
-
-
-
-
Emmelien Aten
00116690
0000092132
7y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS
-
-
Unknown
-
-
-
-
-
Emmelien Aten
00116699
0000092133
4y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS
-
-
Unknown
-
-
-
-
-
Emmelien Aten
00116700
0000092134
3y-IFAP, corneal scarring, developmental delay, growth retardation; IFAPS
-
-
Unknown
-
-
-
-
-
Emmelien Aten
00116701
0000092135
15y-IFAP, developmental delay, head tilt; IFAPS
-
-
Unknown
-
-
-
-
-
Emmelien Aten
00116702
0000092136
scalp alopecia; IFAPS
-
-
Familial
-
-
-
-
-
Emmelien Aten
00116691
0000092140
born with full head of hair. dry and rough skin. hypotrochosis at age 9. mild photophobia. mild myopia; IFAP syndrome; no intellectual disability
-
-
Familial
09y
-
-
-
-
Emmelien Aten
00116692
0000092141
born with full head of hair, later patchy alopecia. photophobia. left inguinal hernia. widespread follicular papules; IFAP syndrome; no intellectual disability
-
-
Familial
06y
-
-
-
-
Emmelien Aten
00116693
0000092142
congenital alopecia. photophobia. seizures. bilateral cryptorchidism. generalized skin dryness. thickened nails. delayed bone age. growth retardation. psychomotor retardation; IFAP syndrome; intellectual disability
-
-
Unknown
05y
-
-
-
-
Emmelien Aten
00116697
0000092158
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
-
-
Familial
11y
-
01d
-
-
Emmelien Aten
00116705
0000092159
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
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116639
0000092160
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
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116640
0000092161
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
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116641
0000092162
Single patch of alopecia; normal skin apart from eczema during childhood); normal eyes (apart from surgically-corrected strabismus); IFAP syndrome
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116642
0000092163
IFAP triad; IFAP syndrome
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116643
0000092164
Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116644
0000092165
Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116645
0000092166
Keratosis pilaris, mainly affecting the lower limbs; IFAP syndrome
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116646
0000092167
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
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116647
0000092168
none reported; IFAP syndrome
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116648
0000092169
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
-
-
Isolated (sporadic)
-
-
-
-
-
Karl-Heinz Grzeschik
00116649
0000092170
IFAP triad; mental retardation, vertebral anomalies; IFAP syndrome
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116650
0000092171
none reported; IFAP syndrome
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116651
0000092173
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
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116652
0000092174
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
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116653
0000092175
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
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116654
0000092176
Striate hyperkeratosis along Blaschko lines of both legs and soles with striate hypohidrosis (sweat testing). Histology from affected areas: ichthyosis follicularis; IFAP syndrome
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116655
0000092177
Delayed speech development, skin phenotype:none reported; IFAP syndrome
-
-
Familial, X-linked dominant, male sparing
-
-
-
-
-
Karl-Heinz Grzeschik
00116656
0000092178
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
-
-
Unknown
-
-
-
-
-
Karl-Heinz Grzeschik
00116657
0000092179
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
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116658
0000092180
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
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116659
0000092181
IFAP; mild psychomotor delay; inguinal hernia; IFAP syndrome
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116660
0000092182
Normal phenotype, without IFAP related problems; IFAP syndrome
-
-
Familial
-
-
-
-
-
Karl-Heinz Grzeschik
00116661
0000092184
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
-
-
Isolated (sporadic)
-
-
-
-
-
Karl-Heinz Grzeschik
00116663
0000092185
typical IFAP, see paper ...
-
-
Unknown
26y
-
-
-
-
Johan den Dunnen
00116706
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