HSD17B10 - Gene browser

HSD17B10

hydroxysteroid 17-beta dehydrogenase 10

HCNC Approved Symbol: HSD17B10 (HGNC:4800)
Genomic Coordinates: 23:53,431,258 - 53,434,376 (Xp11.22)
Synonyms: ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR, HADH2, MRXS10
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the HSD17B10 gene.

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

02
Patient count

Lower limb spasticity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Spastic paraplegia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Spasticity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Cortical atrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Cortical blindness: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)