Details of Disease | DrugMAP

General Information of Disease (ID: DISMU0DP)

Disease Name	D-bifunctional protein deficiency
Synonyms	bifunctional enzyme deficiency; 17-beta-hydroxysteroid dehydrogenase 4 deficiency; peroxisomal bifunctional enzyme deficiency; Pbfe deficiency; DBP deficiency; 17-beta-hydroxysteroid dehydrogenase IV deficiency; peroxisomal multifunctional enzyme (MFE2) deficiency; d-bifunctional protein deficiency; pseudo-Zellweger syndrome; multifunctional enzyme deficiency; peroxisomal multifunctional enzyme deficiency; D-bifunctional enzyme deficiency; HSD17B4 deficiency
Definition	A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.
Disease Hierarchy	DIS4V9MP: Disorder of peroxisomal beta oxidation DISMU0DP: D-bifunctional protein deficiency
Disease Identifiers	MONDO ID MONDO_0009855 MESH ID C537286 UMLS CUI C0342870 OMIM ID 261515 MedGen ID 137982 Orphanet ID 300 SNOMED CT ID 238068007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD17B4	TTL1WGS	Disputed	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD17B4	DEJHG19	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EHHADH	OTBAAHL5	Strong	GermlineCausalMutation	[3]
HSD17B4	OT8733D7	Definitive	Autosomal recessive	[2]
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References

1	Expanding the genotypic spectrum of Perrault syndrome.Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.J Inherit Metab Dis. 1998 Feb;21(1):23-8. doi: 10.1023/a:1005355112975.