PMPCA - Gene browser

PMPCA

peptidase, mitochondrial processing subunit alpha

HCNC Approved Symbol: PMPCA (HGNC:18667)
Genomic Coordinates: 9:136,410,658 - 136,423,761 (9q34.3)
Synonyms: KIAA0123, Alpha-MPP, MAS2, INPP5E, SCAR2, CLA1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the PMPCA gene.

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

07
Patient count

Developmental regression: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Developmental delay: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Global developmental delay: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Phenotypic abnormality: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Atrophic superior cerebellar peduncle: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)