Cytoscape Web
Click node...

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

GATA4
(UniProt - OMIM)
 FLNA
(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)
MAP3K1
(0.72)
FLNA


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Otopalatodigital syndrome type 1
FLNA



46,XY partial gonadal dysgenesis
Otopalatodigital syndrome type 1

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: x-linked dominant
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
46,XY partial gonadal dysgenesis
Otopalatodigital syndrome type 1

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
- Anodontia / oligodontia / hypodontia
- Broad nose / nasal bridge
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Prominent supraorbital ridge
- Restricted joint mobility / joint stiffness / ankylosis
- Short big toe
- Wide space between 1st-2nd toes
- X-linked recessive inheritance

Frequent
- Bowed diaphysis / diaphyses / long bones
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Elbow dislocation
- Frontal sinus agenesis / anomaly
- Metacarpal anomalies / Archibald's sign
- Osteosclerosis / osteopetrosis / bone condensation
- Proximally set thumb
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia
- Thumb hypoplasia / aplasia / absence

Occasional
- Anomalies of spine, vertebrae and pelvis
- Carpal bones fusion / synostosis
- Tarsal anomaly / fusion / synostosis