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46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial clubfoot due to PITX1 point mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
46,XY complete gonadal dysgenesis
Familial clubfoot due to PITX1 point mutation

CBX2
(UniProt - OMIM)
 PITX1
(UniProt - OMIM)
DHH
(UniProt - OMIM)
DMRT1
(UniProt - OMIM)
DMRT2
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NR5A1
(0.85)
PITX1


Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Familial clubfoot due to PITX1 point mutation
PITX1



46,XY complete gonadal dysgenesis
Familial clubfoot due to PITX1 point mutation

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome
Synonym(s):
- Hereditary clubfoot due to PITX1 point mutation
Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
46,XY complete gonadal dysgenesis

Very frequent
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



Familial clubfoot due to PITX1 point mutation

(no data available)