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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
ADULT syndrome
1 OMIM reference -
1 associated gene
22 signs/symptoms
46,XY partial gonadal dysgenesis
ADULT syndrome

GATA4
(UniProt - OMIM)
 TP63
(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)
WWOX
WT1
(0.63)
(0.55)
TP63
TP63


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
ADULT syndrome
TP63



46,XY partial gonadal dysgenesis
ADULT syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- Acro-dermato-ungual-lacrimal-tooth syndrome
- Pigment anomaly - ectrodactyly - hypodontia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare skin 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: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538052
46,XY partial gonadal dysgenesis
ADULT syndrome

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)


Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dry / squaly skin / exfoliation
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Excessive freckling
- Fine hair
- Nails anomalies
- Oligodactyly / ectrodactyly of toes
- Pigmented naevi / naevus pigmentosus / lentigo
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thin skin

Frequent
- Alopecia
- Breast tissue / mammary gland absence / aplasia
- Hypoplastic / absent nipples
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Tooth shape anomaly

Occasional
- Broad nose / nasal bridge
- Face / facial anomalies
- High nasal bridge