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2 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive hypophosphatemic rickets
Hypopigmentation-punctate palmoplantar keratoderma syndrome

DMP1 ENPP1
ENPP1


COMMON
GENES
ENPP1



Citations in the biomedical literature:


Autosomal recessive hypophosphatemic rickets
DMP1 ENPP1
Hypopigmentation-punctate palmoplantar keratoderma syndrome



Autosomal recessive hypophosphatemic rickets
Hypopigmentation-punctate palmoplantar keratoderma syndrome

Synonym(s):
- ARHR

Synonym(s):
- Cole disease
- Guttate hypopigmentation and punctate palmoplantar keratoderma
- Hypopigmentation and punctate keratosis of the palms and soles

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.