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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
Richieri Costa-Pereira syndrome
1 OMIM reference -
1 associated gene
21 signs/symptoms
46,XY partial gonadal dysgenesis
Richieri Costa-Pereira syndrome

GATA4
(UniProt - OMIM)
 EIF4A3
(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
WWOX
(0.63)
(0.63)
EIF4A3
EIF4A3


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Richieri Costa-Pereira syndrome
EIF4A3



46,XY partial gonadal dysgenesis
Richieri Costa-Pereira syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
- Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot
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
- Rare maxillo-facial surgical 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535677
46,XY partial gonadal dysgenesis
Richieri Costa-Pereira 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
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Prominent / bat ears
- Radial club hand
- Short stature / dwarfism / nanism
- Talipes-varus / metatarsal varus
- Thumb hypoplasia / aplasia / absence

Frequent
- Anodontia / oligodontia / hypodontia
- Clinodactyly of fifth finger
- Facial cleft
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- Metacarpal anomalies / Archibald's sign
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- High vaulted / narrow palate
- Proximally set thumb
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly