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

GATA4 TBX5
MAP3K1
NR0B1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
(0.74)
TBX5



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Holt-Oram syndrome
TBX5



46,XY partial gonadal dysgenesis
Holt-Oram syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- Atriodigital dysplasia type 1
- HOS
- Heart-hand syndrome type 1

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 cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac 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: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535326

46,XY partial gonadal dysgenesis
Holt-Oram 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 dominant inheritance
- Wrist / carpal anomalies

Frequent
- Atrial septal defect / interauricular communication
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Fingerlike / triphalangeal thumb
- Metacarpal anomalies / Archibald's sign
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Thumb hypoplasia / aplasia / absence
- Ventricular septal defect / interventricular communication

Occasional
- Anomalies of the ribs
- Anomalous pulmonary venous return
- Atrioventricular canal
- Broad / bifid thumb
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic left heart / ventricle
- Narrow / sloping shoulders
- Patent ductus arteriosus
- Pectus excavatum
- Phocomelia
- Radioulnar synostosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Syndactyly of fingers / interdigital palm