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

GATA4
(UniProt - OMIM)
 PIK3R1
(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)
NR5A1
(0.63)
PIK3R1


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
SHORT syndrome
PIK3R1



46,XY partial gonadal dysgenesis
SHORT syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- Aarskog-Ose-Pande syndrome
- Lipodystrophy - Rieger anomaly - diabetes
- Rieger anomaly - partial lipodystrophy
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 endocrine disease
- Rare eye disease
- 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: autosomal dominant
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537327
46,XY partial gonadal dysgenesis
SHORT 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
- Aniridia / iris hypoplasia
- Anterior chamber anomaly
- Autosomal dominant inheritance
- Deepset eyes / enophthalmos
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism

Frequent
- Abnormal fat distribution / lipodystrophy
- Anomalies of teeth and dentition
- Complete / partial microdontia
- Diabetes mellitus
- Enamel anomaly
- Face / facial anomalies
- Glaucoma
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin resistance
- Megalocornea
- Mid-facial hypoplasia / short / small midface
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Rippled skin
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Broad nasal root
- Clinodactyly of fifth finger
- Corneal clouding / opacity / vascularisation
- Embryotoxon
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Iridocorneal dysgenesis / iridogoniodysgenesis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myotonia
- Prominent supraorbital ridge
- Short hand / brachydactyly
- Telecanthus / canthal dystopy
- Triangular face
- Upper limb polydactyly / hexadactyly
- Urinary / renal lithiasis / kidney stones / nephritic colic