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Methylcobalamin deficiency type cblG
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Familial melanoma
Familial pancreatic carcinoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Idiopathic pulmonary fibrosis
Synonym(s):
- Functional methionine synthase deficiency type cblG
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MTR Q99707156570
No signs/symptoms info available.