MMACHC - Gene browser

MMACHC

metabolism of cobalamin associated C

HCNC Approved Symbol: MMACHC (HGNC:24525)
Genomic Coordinates: 1:45,500,300 - 45,513,382 (1p34.1)
Synonyms: DKFZP564I122, cblC
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the MMACHC gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

014
Patient count

Intellectual disability: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Ataxic gait: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Metabolic acidosis: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Hyperreflexia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Hypocitraturia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)