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46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
Spondylocarpotarsal synostosis
1 OMIM reference -
1 associated gene
12 signs/symptoms
46,XY complete gonadal dysgenesis
Spondylocarpotarsal synostosis

CBX2
(UniProt - OMIM)
 FLNB
(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)
MAP3K1
(0.68)
FLNB


Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Spondylocarpotarsal synostosis
FLNB



46,XY complete gonadal dysgenesis
Spondylocarpotarsal synostosis

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome
Synonym(s):
- Synspondylism
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:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
46,XY complete gonadal dysgenesis
Spondylocarpotarsal synostosis

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



Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Carpal bones fusion / synostosis
- Lordosis
- Restricted joint mobility / joint stiffness / ankylosis
- Short rib cage / thorax
- Vertebral segmentation anomaly / hemivertebrae

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Pectus excavatum
- Polycystic kidneys
- Sensorineural deafness / hearing loss