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4 OMIM references -
2 associated genes
1 sign/symptom
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Familial hypospadias
Parkes Weber syndrome

AR RASA1
MAMLD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AR
(0.72)
RASA1



Citations in the biomedical literature:


Familial hypospadias
AR MAMLD1
Parkes Weber syndrome
RASA1



Familial hypospadias
Parkes Weber syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- 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: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Familial hypospadias
Parkes Weber syndrome

Very frequent
- Hypospadias / epispadias / bent penis



Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Global upper and lower limbs anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Muscle hypertrophy
- Peripheral arteriovenous fistula
- Telangiectasiae of the skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy

Frequent
- Varices / varicous veins / venous insufficiency

Occasional
- Facial pain / cephalalgia / migraine
- Glaucoma
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Vascular anomalies of skin / mucosae