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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
6 associated genes
14 signs/symptoms
46,XY partial gonadal dysgenesis
Athyreosis

GATA4 FOXE1
MAP3K1 NKX2-1
NR0B1 NKX2-5
NR5A1 PAX8
SRY SLC26A4
WT1 TSHR
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
(0.96)
NKX2-5



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Athyreosis
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR



46,XY partial gonadal dysgenesis
Athyreosis

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

Synonym(s):
(no synonyms)

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 endocrine disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

46,XY partial gonadal dysgenesis
Athyreosis

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 / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Muscle weakness / flaccidity
- Sleep and vigilance disorders

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism