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D-bifunctional protein deficiency
Summary
- Definition
- A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
- Super Class
- peroxisomal disease
External Links
- Disease Ontology
- DOID:0090031
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
| 5213 | PFKM | phosphofructokinase, muscle | |
| 5224 | PGAM2 | phosphoglycerate mutase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08237 | ATP-dependent 6-phosphofructokinase, muscle type | |
| P11310 | Medium-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| P50416 | Carnitine O-palmitoyltransferase 1, liver isoform | |
| P51659 | Peroxisomal multifunctional enzyme type 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002126 | Polymicrogyria |
| HP:0002171 | Gliosis |
| HP:0002240 | Hepatomegaly |
| HP:0002539 | Cortical dysplasia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002832 | Calcific stippling |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003199 | Decreased muscle mass |
