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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
3 OMIM references -
3 associated genes
47 signs/symptoms
46,XY partial gonadal dysgenesis
LEOPARD syndrome

GATA4 BRAF
MAP3K1 PTPN11
NR0B1 RAF1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
MAP3K1
(0.84)
(0.78)
BRAF
RAF1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
LEOPARD syndrome
BRAF PTPN11 RAF1



46,XY partial gonadal dysgenesis
LEOPARD syndrome

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

Synonym(s):
- Cardiomyopathic lentiginosis
- Familial multiple lentigines 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 cardiac disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic 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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
3 OMIM references -
2 MeSH references: C537116 / D044542


COMMON
SIGNS
- Hypospadias / epispadias / bent penis


46,XY partial gonadal dysgenesis
LEOPARD syndrome

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- 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
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac rhythm disorder / arrhythmia
- Excessive freckling
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperelastic skin / cutaneous hyperlaxity
- Hypertelorism
- Intrauterine growth retardation
- Myelodysplastic syndrome
- Pigmented naevi / naevus pigmentosus / lentigo
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Sensorineural deafness / hearing loss
- Structural anomalies of the genital system

Frequent
- Anomalies of ear and hearing
- Atrioventricular canal
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Congenital cardiac anomaly / malformation / cardiopathy
- Face / facial anomalies
- Low set ears / posteriorly rotated ears
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Pectus excavatum
- Ptosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sterility / hypofertility
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Webbed neck / pterygium colli

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Arterial aneurism (excluding aorta)
- Brachycephaly / flat occiput
- Ectopic / horseshoe / fused kidneys
- Endocardium anomalies / fibroelastosis / endocarditis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Melanoma
- Myeloproliferative syndrome / chronic leukemia
- Neuroblastoma
- Rippled skin
- Scoliosis
- Short stature / dwarfism / nanism
- Spina bifida occulta
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Triangular face