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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
5q14.3 microdeletion syndrome
1 OMIM reference -
1 associated gene
25 signs/symptoms
46,XY partial gonadal dysgenesis
5q14.3 microdeletion syndrome

GATA4
(UniProt - OMIM)
 MEF2C
(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)
GATA4
(0.55)
MEF2C


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
5q14.3 microdeletion syndrome
MEF2C



46,XY partial gonadal dysgenesis
5q14.3 microdeletion syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- Del(5)(q14.3)
- Monosomy 5q14.3
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 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: 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: -
Type of inheritance: sporadic
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
46,XY partial gonadal dysgenesis
5q14.3 microdeletion syndrome

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
- Autism / autistic disoders
- Broad forehead
- High forehead
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Short philtrum
- Short / small nose
- Structural anomalies of the nervous system
- Tics / stereotypias
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anteverted nares / nostrils
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Mouth held open
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Strabismus / squint
- Syndactyly of toes
- Thick / bushy eyebrows