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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Craniolenticulosutural dysplasia
1 OMIM reference -
1 associated gene
34 signs/symptoms
46,XY partial gonadal dysgenesis
Craniolenticulosutural dysplasia

GATA4
(UniProt - OMIM)
 SEC23A
(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)
WWOX
(0.63)
SEC23A


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Craniolenticulosutural dysplasia
SEC23A



46,XY partial gonadal dysgenesis
Craniolenticulosutural dysplasia

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- Boyadjiev-Jabs syndrome
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
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 -
No MeSH references
46,XY partial gonadal dysgenesis
Craniolenticulosutural dysplasia

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
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Autosomal recessive inheritance
- Brittle hair / distrix / trichorrhexis
- Broad nose / nasal bridge
- Cataract / lens opacification
- Coarse / thick hair
- Complete / partial microdontia
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Frontal bossing / prominent forehead
- High nasal bridge
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Large fontanelle / delayed fontanelle closure
- Long philtrum
- Macrostomia / big mouth
- Multiple caries
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Philtrum flat / large / featureless / absent cupidon bows
- Poorly ossified skull / calvarium
- Prominent supraorbital ridge
- Scoliosis
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Flat foot
- Narrow rib cage / thorax
- Narrow / sloping shoulders
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia