D-bifunctional protein deficiency

Preferred Label : D-bifunctional protein deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dbp deficiency; Peroxisomal bifunctional enzyme deficiency; 17-beta-hydroxysteroid dehydrogenase iv deficiency; Pbfe deficiency;

Description : D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (264470), caused by mutation in the ACOX1 gene (609751) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; 300100), Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (NALD; see 601539) (Watkins et al., 1995). Mutation in the HSD17B4 gene has also been found to cause Perrault syndrome (233400), which is characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the 17-beta-hydroxysteroid dehydrogenase IV gene (HSD17B4, 601860.0001);

Laboratory abnormalities : Increased plasma levels of very long-chain fatty acids (VLCFA); Increased plasma levels of bile acid intermediates; Decreased peroxisomal fatty acid beta-oxidation; Decreased or absent D-bifunctional protein activity and protein; Normal serum plasmalogen;

Prefixed ID : #261515;

Details

Origin ID

261515;

UMLS CUI

C0342870;

Automatic exact mappings (from CISMeF team)
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 17 beta hydroxysteroid dehydrogenase IV deficiency [Disease (Nov.)]
- Bifunctional enzyme deficiency [ORDO Disease]
- Bifunctional peroxisomal enzyme deficiency (disorder) [SNOMED CT concept]
- D-Bifunctional Protein Deficiency [NCIt concept]
- D-bifunctional protein deficiency [DO Concept]
- Peroxisomal D-bifunctional enzyme deficiency [ICD-11 More detail]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]
- Pseudo-Zellweger syndrome [MeSH Supplementary Concept]
- Pseudo-Zellweger syndrome [MeSH concept]
- Pseudo-Zellweger syndrome [ICD-11 More detail]
- Pseudo-Zellweger syndrome [ORDO Disease]
DO Cross reference
- D-bifunctional protein deficiency [DO Concept]
Genes related to phenotype
- 17-beta-hydroxysteroid dehydrogenase iv [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Adrenocortical insufficiency [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bile duct proliferation [HPO term]
- Calcific stippling [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral dysmyelination [HPO term]
- Cerebral hypoplasia [HPO term]
- Cholestasis [HPO term]
- Corpus callosum atrophy [HPO term]
- Cortical dysplasia [HPO term]
- Decreased muscle mass [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Elevated hepatic transaminase [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal ascites [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hammertoe [HPO term]
- Hearing impairment [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic/atrophic corpus callosum [HPO term]
- Hypotonia [HPO term]
- Increased circulating very long-chain fatty acid concentration [HPO term]
- Large fontanelles [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Motor regression [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Polymicrogyria [HPO term]
- Primary adrenal insufficiency [HPO term]
- Renal cyst [HPO term]
- Retrognathia [HPO term]
- Scaphocephaly [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Split hand [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic hypoplasia [HPO term]
- Undetectable electroretinogram [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Very long chain fatty acid accumulation [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Bifunctional enzyme deficiency [ORDO Disease]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- 17 beta hydroxysteroid dehydrogenase IV deficiency [Disease (Nov.)]
- Bifunctional enzyme deficiency [ORDO Disease]
- Bifunctional peroxisomal enzyme deficiency (disorder) [SNOMED CT concept]
- D-Bifunctional Protein Deficiency [NCIt concept]
- D-bifunctional protein deficiency [DO Concept]
- Peroxisomal D-bifunctional enzyme deficiency [ICD-11 More detail]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients