ALPL - Gene browser

ALPL

alkaline phosphatase, biomineralization associated

HCNC Approved Symbol: ALPL (HGNC:438)
Genomic Coordinates: 1:21,508,984 - 21,578,410 (1p36.12)
Synonyms: TNSALP, TNALP, TNAP, HOPS
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the ALPL gene.

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

02
Patient count

Bowed femur: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
High-arched palate: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Large anterior fontanelle: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Metaphyseal flaring: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Rhizomelic shortening: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)