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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
10 signs/symptoms
46,XY partial gonadal dysgenesis
Lethal acantholytic epidermolysis bullosa

GATA4 DSP
MAP3K1 JUP
NR0B1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
WWOX
(0.63)
(0.63)
DSP
JUP



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Lethal acantholytic epidermolysis bullosa
DSP JUP



46,XY partial gonadal dysgenesis
Lethal acantholytic epidermolysis bullosa

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- LAEB

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 genetic 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: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535493

46,XY partial gonadal dysgenesis
Lethal acantholytic epidermolysis bullosa

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
- Absent / small fingernails / anonychia of hands
- Alopecia
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis