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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Mandibuloacral dysplasia with type A lipodystrophy
1 OMIM reference -
1 associated gene
28 signs/symptoms
46,XY partial gonadal dysgenesis
Mandibuloacral dysplasia with type A lipodystrophy

GATA4
(UniProt - OMIM)
 LMNA
(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
(0.49)
LMNA


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Mandibuloacral dysplasia with type A lipodystrophy
LMNA



46,XY partial gonadal dysgenesis
Mandibuloacral dysplasia with type A lipodystrophy

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 endocrine disease
- Rare genetic disease
- Rare skin 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: autosomal recessive
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535705
46,XY partial gonadal dysgenesis
Mandibuloacral dysplasia with type A lipodystrophy

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 dentition / dental position / implantation / unerupted / dental ankylosis
- Alopecia
- Clavicle absent / abnormal
- Large fontanelle / delayed fontanelle closure
- Osteolysis / osteoclasia / bone destruction / erosions
- Premature ageing
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Terminal / third phalangeal bone of fingers hypoplasia
- Wormian bones

Frequent
- Eyebrows anomalies
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Proptosis / exophthalmos

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Articular / joint pain / arthralgia
- Autosomal recessive inheritance
- Breast tissue / mammary gland absence / aplasia
- Cataract / lens opacification
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypotonia
- Muscle anomalies
- Tight skin / lack of elasticity