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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial hypocalciuric hypercalcemia type 1
Microcephaly-capillary malformation syndrome

CASR STAMBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CASR
(0.72)
STAMBP



Citations in the biomedical literature:


Familial hypocalciuric hypercalcemia type 1
CASR
Microcephaly-capillary malformation syndrome
STAMBP



Familial hypocalciuric hypercalcemia type 1
Microcephaly-capillary malformation syndrome

Synonym(s):
- FHH type 1

Synonym(s):
- MIC-CAP syndrome
- MIC-CM syndrome
- Microcephaly-cutaneous capillary malformation syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C537145
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.