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4 OMIM references -
2 associated genes
1 sign/symptom
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Familial hypospadias
Isolated delta-storage pool disease

AR FLI1
MAMLD1 RUNX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AR
(0.52)
RUNX1



Citations in the biomedical literature:


Familial hypospadias
AR MAMLD1
Isolated delta-storage pool disease
FLI1 RUNX1



Familial hypospadias
Isolated delta-storage pool disease

Synonym(s):
(no synonyms)

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Familial hypospadias

Very frequent
- Hypospadias / epispadias / bent penis



Isolated delta-storage pool disease

(no data available)