PYCR1 - Gene browser

PYCR1

pyrroline-5-carboxylate reductase 1

HCNC Approved Symbol: PYCR1 (HGNC:9721)
Genomic Coordinates: 17:81,932,391 - 81,937,300 (17q25.3)
Synonyms: P5C
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the PYCR1 gene.

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

07
Patient count

Cutis laxa: 5 (71.4%)
Patient Count: 5 (71.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (71.4%)
Thin skin: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Progeroid facial appearance: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Adducted thumbs: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Bluish sclerae: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)