Cytoscape Web
Click node...

Ankyloblepharon - ectodermal defects - cleft lip/palate
1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 2
46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
Ankyloblepharon - ectodermal defects - cleft lip/palate
46,XY partial gonadal dysgenesis

TP63
(UniProt - OMIM)
 GATA4
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)
WT1
(UniProt - OMIM)
WWOX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP63
TP63
(0.63)
(0.55)
WWOX
WT1


Citations in the biomedical literature:


Ankyloblepharon - ectodermal defects - cleft lip/palate
TP63
46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX



Ankyloblepharon - ectodermal defects - cleft lip/palate
46,XY partial gonadal dysgenesis

Synonym(s):
- AEC syndrome
- Hay-Wells syndrome
Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references
Ankyloblepharon - ectodermal defects - cleft lip/palate
46,XY partial gonadal dysgenesis

Very frequent
- Autosomal dominant inheritance
- Broad nose / nasal bridge
- Coarse / thick hair
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lateral cleft lip / gingival cleft / paramedian nasal cleft

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Enamel anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Palmoplantar hyperkeratosis / keratoderma
- Tooth shape anomaly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal recessive inheritance
- Clinodactyly of fifth finger
- Conductive deafness / hearing loss
- Defect / anomaly of lacrimal system
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Prominent / bat ears
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Ventricular septal defect / interventricular communication


Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)