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4 OMIM references -
2 associated genes
1 sign/symptom
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Familial hypospadias
Morning glory syndrome

AR PAX6
MAMLD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AR
(0.87)
PAX6



Citations in the biomedical literature:


Familial hypospadias
AR MAMLD1
Morning glory syndrome
PAX6



Familial hypospadias
Morning glory syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Ectasic coloboma
- Volubilis syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital disease
Classification (Orphanet):
- Rare eye disease
- 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: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown

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

Familial hypospadias
Morning glory syndrome

Very frequent
- Hypospadias / epispadias / bent penis



Very frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Strabismus / squint
- Visual loss / blindness / amblyopia

Occasional
- Cataract / lens opacification
- Coloboma of the optic nerve
- Nystagmus
- Retinal detachment