NSDHL Chromosome X
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
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What This Gene Does
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000147383
Associated Conditions (10)
CK syndrome
Child syndrome
Connective tissue disorder
Inborn genetic diseases
NSDHL-related disorder
Intellectual disability
Thyroid cancer
nonmedullary
1
Malignant tumor of urinary bladder
Key Variants
RS1323999679
Conflicting classifications of pathogenicity
CK syndrome, Child syndrome, CK syndrome
Health Risk
RS1328593149
Conflicting classifications of pathogenicity
Health Risk
RS138492835
Conflicting classifications of pathogenicity
Connective tissue disorder, Connective tissue disorder
Health Risk
RS145580873
Conflicting classifications of pathogenicity
CK syndrome, Child syndrome, CK syndrome
Health Risk
RS147318065
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151248633
Conflicting classifications of pathogenicity
Inborn genetic diseases, NSDHL-related disorder, Inborn genetic diseases
Health Risk
RS200748828
Conflicting classifications of pathogenicity
CK syndrome, CK syndrome
Health Risk
RS201339444
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS2521807600
Conflicting classifications of pathogenicity
Child syndrome, Child syndrome
Health Risk
RS2521816926
Conflicting classifications of pathogenicity
Child syndrome, CK syndrome, Child syndrome
Health Risk
RS371114993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373717198
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1323999679 | Health Risk | Conflicting classifications of pathogenicity | CK syndrome, Child syndrome, CK syndrome |
| RS1328593149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138492835 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Connective tissue disorder |
| RS145580873 | Health Risk | Conflicting classifications of pathogenicity | CK syndrome, Child syndrome, CK syndrome |
| RS147318065 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151248633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NSDHL-related disorder, Inborn genetic diseases |
| RS200748828 | Health Risk | Conflicting classifications of pathogenicity | CK syndrome, CK syndrome |
| RS201339444 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS2521807600 | Health Risk | Conflicting classifications of pathogenicity | Child syndrome, Child syndrome |
| RS2521816926 | Health Risk | Conflicting classifications of pathogenicity | Child syndrome, CK syndrome, Child syndrome |
| RS371114993 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373717198 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375100066 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Inborn genetic diseases, Connective tissue disorder |
| RS587784223 | Health Risk | Conflicting classifications of pathogenicity | Child syndrome, Child syndrome |
| RS587784224 | Health Risk | Conflicting classifications of pathogenicity | Child syndrome, Child syndrome |
| RS782143078 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Child syndrome, CK syndrome |
| RS782233195 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS868918302 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS104894909 | Health Risk | Likely pathogenic | Child syndrome, Child syndrome |
| RS137853863 | Health Risk | Likely pathogenic | Child syndrome, Child syndrome |
| RS1602937895 | Health Risk | Likely pathogenic | Child syndrome, Child syndrome |
| RS1933335869 | Health Risk | Likely pathogenic | — |
| RS2125008883 | Health Risk | Likely pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2125015914 | Health Risk | Likely pathogenic | — |
| RS2521790020 | Health Risk | Likely pathogenic | CK syndrome, Child syndrome, CK syndrome |
| RS587784222 | Health Risk | Likely pathogenic | Child syndrome, Child syndrome |
| RS104894901 | Health Risk | Pathogenic | Child syndrome, Child syndrome |
| RS104894902 | Health Risk | Pathogenic | Child syndrome, Child syndrome |
| RS104894903 | Health Risk | Pathogenic | Child syndrome, Child syndrome |
| RS104894904 | Health Risk | Pathogenic | Child syndrome, Child syndrome |
| RS104894905 | Health Risk | Pathogenic | Child syndrome, Thyroid cancer, nonmedullary |
| RS121909833 | Health Risk | Pathogenic | CK syndrome, CK syndrome |
| RS121909834 | Health Risk | Pathogenic | CK syndrome, CK syndrome |
| RS141571609 | Health Risk | Pathogenic | Child syndrome, Child syndrome |
| RS1933337210 | Health Risk | Pathogenic | — |
| RS587784225 | Health Risk | Pathogenic | Child syndrome, Child syndrome |
| RS587784226 | Health Risk | Pathogenic | Child syndrome, Child syndrome |
| RS797045835 | Health Risk | Pathogenic | Child syndrome, Child syndrome |