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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial isolated hyperparathyroidism
Methylmalonic acidemia with homocystinuria, type cblX

CDC73 HCFC1
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEN1
(0.55)
HCFC1



Citations in the biomedical literature:


Familial isolated hyperparathyroidism
CDC73 MEN1
Methylmalonic acidemia with homocystinuria, type cblX
HCFC1



Familial isolated hyperparathyroidism
Methylmalonic acidemia with homocystinuria, type cblX

Synonym(s):
- FIHPT

Synonym(s):
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
- Methylmalonic aciduria with homocystinuria, type cblX

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

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

No signs/symptoms info available.