DBPD
MCID: DBF001
MIFTS: 54

D-Bifunctional Protein Deficiency (DBPD)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for D-Bifunctional Protein Deficiency

MalaCards integrated aliases for D-Bifunctional Protein Deficiency:

Name: D-Bifunctional Protein Deficiency 57 12 53 25 74 37 13 55 15
Bifunctional Peroxisomal Enzyme Deficiency 25 29 6 72
17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency 57 53 25
Peroxisomal Bifunctional Enzyme Deficiency 57 53 25
Pbfe Deficiency 57 53 25
Dbp Deficiency 57 53 25
Bifunctional Enzyme Deficiency 53 59
Pseudo-Zellweger Syndrome 25 72
Protein Deficiency, D-Bifunctional 40
Zellweger-Like Syndrome 25
Dbpd 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
prevalence of 1 in 100,000
early death, usually before age 2 years


HPO:

32
d-bifunctional protein deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0090031
OMIM 57 261515
KEGG 37 H02098
ICD10 33 E71.3
MESH via Orphanet 45 C536663
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C0342870
Orphanet 59 ORPHA300
MedGen 42 C0342870
UMLS 72 C0342870 C1533628

Summaries for D-Bifunctional Protein Deficiency

Genetics Home Reference : 25 D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. Some may reach very early developmental milestones such as the ability to follow movement with their eyes or control their head movement, but they experience a gradual loss of these skills (developmental regression) within a few months. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with D-bifunctional protein deficiency do not survive past the age of 2. A small number of individuals with this disorder are somewhat less severely affected. They may acquire additional basic skills, such as voluntary hand movements or unsupported sitting, before experiencing developmental regression, and they may survive longer into childhood than more severely affected individuals. Individuals with D-bifunctional protein deficiency may have unusual facial features, including a high forehead, widely spaced eyes (hypertelorism), a lengthened area between the nose and mouth (philtrum), and a high arch of the hard palate at the roof of the mouth. Affected infants may also have an unusually large space between the bones of the skull (fontanelle). An enlarged liver (hepatomegaly) occurs in about half of affected individuals. Because these features are similar to those of another disorder called Zellweger syndrome (part of a group of disorders called the Zellweger spectrum), D-bifunctional protein deficiency is sometimes called pseudo-Zellweger syndrome.

MalaCards based summary : D-Bifunctional Protein Deficiency, also known as bifunctional peroxisomal enzyme deficiency, is related to peroxisomal acyl-coa oxidase deficiency and peroxisomal disease. An important gene associated with D-Bifunctional Protein Deficiency is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4), and among its related pathways/superpathways are Primary bile acid biosynthesis and Biosynthesis of unsaturated fatty acids. The drugs chenodeoxycholic acid and Ursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and kidney, and related phenotypes are decreased nerve conduction velocity and cerebral hypoplasia

Disease Ontology : 12 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.

NIH Rare Diseases : 53 D-bifunctional protein deficiency (DBP deficiency) is 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 never gain any developmental 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.

OMIM : 57 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). DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; 233400). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed. (261515)

KEGG : 37
D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional units. And it catalyzes the second and third steps of peroxisomal beta-oxidation of fatty acids. The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids (VLCFA), 2-methyl branched-chain fatty acids, and the bile acid intermediates (DHCA/THCA). The clinical presentation is very severe, and most affected children die within the first 2 years of life. Virtually all patients present with neonatal hypotonia and seizures.

UniProtKB/Swiss-Prot : 74 D-bifunctional protein deficiency: Disorder of peroxisomal fatty acid beta-oxidation.

Wikipedia : 75 D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder.... more...

Related Diseases for D-Bifunctional Protein Deficiency

Diseases related to D-Bifunctional Protein Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 peroxisomal acyl-coa oxidase deficiency 31.0 SCP2 HSD17B4 CAT ACOX1
2 peroxisomal disease 29.7 HSD17B4 HADHB CAT
3 adrenoleukodystrophy 29.5 EHHADH CAT ACOX1
4 peroxisome biogenesis disorder 1b 29.1 HSD17B4 CAT
5 neonatal adrenoleukodystrophy 28.7 SCP2 EHHADH CAT ACOX1
6 zellweger-like syndrome without peroxisomal anomalies 12.5
7 alpha-methylacetoacetic aciduria 11.7
8 hypotonia 10.4
9 ataxia and polyneuropathy, adult-onset 10.3
10 perrault syndrome 1 10.2
11 branchiootic syndrome 1 10.2
12 aceruloplasminemia 10.2
13 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
14 autosomal recessive disease 10.2
15 perrault syndrome 10.2
16 leukodystrophy 10.2
17 hypogonadism 10.2
18 peripheral nervous system disease 10.2
19 hypogonadotropism 10.2
20 neuropathy 10.2
21 zellweger syndrome 10.2
22 polymicrogyria 10.2
23 adrenomyeloneuropathy 10.2
24 ascites, chylous 10.0
25 retinitis pigmentosa 10.0
26 acatalasemia 10.0
27 west syndrome 10.0
28 sensorineural hearing loss 10.0
29 neuroretinitis 10.0
30 visual epilepsy 10.0
31 retinitis 10.0
32 polyhydramnios 10.0
33 pathologic nystagmus 10.0
34 pachygyria 10.0
35 peroxisome biogenesis disorder-zellweger syndrome spectrum 10.0
36 seizure disorder 10.0
37 spinocerebellar degeneration 10.0
38 carbonic anhydrase va deficiency, hyperammonemia due to 10.0
39 mitochondrial trifunctional protein deficiency 10.0 HADHB EHHADH
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
41 46 xx gonadal dysgenesis 10.0
42 colpocephaly 9.9
43 alpha-methylacyl-coa racemase deficiency 9.8 SCP2 HSD17B4 ACOX1
44 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 HADHB HADH
45 acyl-coa dehydrogenase, very long-chain, deficiency of 9.6 HADHB HADH
46 rhizomelic chondrodysplasia punctata, type 1 9.4 SCP2 HSD17B4 HADHB ACOX1
47 refsum disease, classic 9.4 SCP2 HSD17B4 CAT

Graphical network of the top 20 diseases related to D-Bifunctional Protein Deficiency:



Diseases related to D-Bifunctional Protein Deficiency

Symptoms & Phenotypes for D-Bifunctional Protein Deficiency

Human phenotypes related to D-Bifunctional Protein Deficiency:

32 (show top 50) (show all 56)
# Description HPO Frequency HPO Source Accession
1 decreased nerve conduction velocity 32 very rare (1%) HP:0000762
2 cerebral hypoplasia 32 very rare (1%) HP:0006872
3 macrocephaly 32 HP:0000256
4 hypertelorism 32 HP:0000316
5 low-set ears 32 HP:0000369
6 pectus excavatum 32 HP:0000767
7 frontal bossing 32 HP:0002007
8 high palate 32 HP:0000218
9 nystagmus 32 HP:0000639
10 osteopenia 32 HP:0000938
11 seizures 32 HP:0001250
12 failure to thrive 32 HP:0001508
13 global developmental delay 32 HP:0001263
14 hepatomegaly 32 HP:0002240
15 delayed skeletal maturation 32 HP:0002750
16 depressed nasal bridge 32 HP:0005280
17 abnormal facial shape 32 HP:0001999
18 visual impairment 32 HP:0000505
19 neonatal hypotonia 32 HP:0001319
20 feeding difficulties in infancy 32 HP:0008872
21 decreased muscle mass 32 HP:0003199
22 long philtrum 32 HP:0000343
23 micrognathia 32 HP:0000347
24 dolichocephaly 32 HP:0000268
25 retrognathia 32 HP:0000278
26 strabismus 32 HP:0000486
27 epicanthus 32 HP:0000286
28 hepatic steatosis 32 HP:0001397
29 elevated hepatic transaminase 32 HP:0002910
30 ventriculomegaly 32 HP:0002119
31 aplasia/hypoplasia of the cerebellum 32 HP:0007360
32 primary adrenal insufficiency 32 HP:0008207
33 talipes equinovarus 32 HP:0001762
34 visual loss 32 HP:0000572
35 polyhydramnios 32 HP:0001561
36 upslanted palpebral fissure 32 HP:0000582
37 cholestasis 32 HP:0001396
38 split hand 32 HP:0001171
39 high forehead 32 HP:0000348
40 large fontanelles 32 HP:0000239
41 delayed cranial suture closure 32 HP:0000270
42 polymicrogyria 32 HP:0002126
43 hypoplasia of the corpus callosum 32 HP:0002079
44 corpus callosum atrophy 32 HP:0007371
45 hammertoe 32 HP:0001765
46 thoracic hypoplasia 32 HP:0005257
47 renal cyst 32 HP:0000107
48 gliosis 32 HP:0002171
49 cortical dysplasia 32 HP:0002539
50 generalized cerebral atrophy/hypoplasia 32 HP:0007058

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
large fontanelles
scaphocephaly
delayed closure of the fontanelles

Head And Neck Ears:
low-set ears
loss of hearing (45%)

Head And Neck Nose:
depressed nasal bridge

Skeletal Feet:
talipes equinovarus
hammertoes

Skeletal:
calcific stippling
delayed bone maturation
generalized osteopenia

Abdomen Gastrointestinal:
poor feeding

Chest External Features:
funnel chest
long, small thorax

Abdomen Liver:
abnormal liver function (26%)
hepatomegaly (43%)
histology shows normal numbers of peroxisomes (84%)
abnormal peroxisomes (53%)
absence of peroxisomes (16%)
more
Neurologic Central Nervous System:
hypotonia, neonatal (> 90%)
seizures (> 90%)
delayed psychomotor development, severe (> 90%)
polymicrogyria (64%)
ventricular dilatation (29%)
more
Endocrine Features:
adrenocortical insufficiency (uncommon)

Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
epicanthal folds
upslanting palpebral fissures
more
Head And Neck Face:
frontal bossing
long philtrum
micrognathia
retrognathia
high forehead
more
Muscle Soft Tissue:
decreased muscle mass

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal ascites

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
claw hands

Growth Other:
failure to thrive (44% of patients)

Genitourinary Kidneys:
renal cysts (33%)
adrenal cortex atrophy (42%)

Neurologic Peripheral Nervous System:
delayed peripheral nerve motor conduction velocities (67%)

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

Clinical features from OMIM:

261515

MGI Mouse Phenotypes related to D-Bifunctional Protein Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 ACOX1 CAT EHHADH HADH HADHB HSD17B4
2 liver/biliary system MP:0005370 9.02 ACOX1 EHHADH HADHB HSD17B4 SCP2

Drugs & Therapeutics for D-Bifunctional Protein Deficiency

Drugs for D-Bifunctional Protein Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved 474-25-9 10133
2
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
3 Gastrointestinal Agents
4 Cathartics
5 Cholic Acids
6 Laxatives
7 Bile Acids and Salts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for D-Bifunctional Protein Deficiency

Genetic Tests for D-Bifunctional Protein Deficiency

Genetic tests related to D-Bifunctional Protein Deficiency:

# Genetic test Affiliating Genes
1 Bifunctional Peroxisomal Enzyme Deficiency 29 HSD17B4

Anatomical Context for D-Bifunctional Protein Deficiency

MalaCards organs/tissues related to D-Bifunctional Protein Deficiency:

41
Liver, Bone, Kidney, Eye, Cortex, Adrenal Cortex, Cerebellum

Publications for D-Bifunctional Protein Deficiency

Articles related to D-Bifunctional Protein Deficiency:

(show top 50) (show all 58)
# Title Authors PMID Year
1
D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. 38 8 71
11743515 2001
2
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 38 8 71
9482850 1998
3
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. 38 8 71
9345094 1997
4
Clinical and biochemical spectrum of D-bifunctional protein deficiency. 38 6 8
16278854 2006
5
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. 8 71
11992265 2002
6
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 8 71
9915948 1999
7
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. 8 71
8279468 1994
8
Peroxisomal bifunctional enzyme deficiency. 8 71
2921319 1989
9
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. 8 71
2882519 1987
10
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. 8 71
2868085 1986
11
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 9 38 8
16385454 2006
12
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 9 38 71
10400999 1999
13
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. 38 8
23181892 2012
14
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. 38 8
20949532 2010
15
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 38 6
25882080 2015
16
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 8
20673864 2010
17
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency. 8
12562856 2003
18
Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency. 8
10319576 1999
19
Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. 8
7668838 1995
20
A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome. 8
8147505 1993
21
Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis. 8
1357231 1992
22
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. 8
2318981 1990
23
A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities. 8
2122104 1990
24
Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. 8
3386829 1988
25
Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency. 9 38
9831634 1998
26
Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy. 38
30396834 2019
27
D-bifunctional Protein Deficiency: A Case Report of a Turkish Child. 38
30692775 2019
28
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. 38
28830375 2017
29
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. 38
28017249 2017
30
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. 38
27790638 2016
31
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care. 38
26733776 2015
32
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 38
25967389 2015
33
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines. 38
25724074 2015
34
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. 38
24553428 2014
35
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency. 38
24602372 2014
36
On the molecular basis of D-bifunctional protein deficiency type III. 38
23308274 2013
37
Mild case of D-bifunctional protein deficiency associated with novel gene mutations. 38
22507161 2012
38
MRI as diagnostic tool in early-onset peroxisomal disorders. 38
22459681 2012
39
A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. 38
21851493 2011
40
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging. 38
20848092 2010
41
Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. 9
19933185 2010
42
Changes in the amounts of myelin lipids and molecular species of plasmalogen PE in the brain of an autopsy case with D-bifunctional protein deficiency. 38
18611434 2008
43
D-bifunctional protein deficiency associated with drug resistant infantile spasms. 38
16919904 2007
44
Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice. 9
15769750 2005
45
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall. 38
16435222 2005
46
Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency. 38
15235808 2004
47
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. 9
15060085 2004
48
Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. 38
12948743 2003
49
Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. 38
12646728 2003
50
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. 38
11810648 2002

Variations for D-Bifunctional Protein Deficiency

ClinVar genetic disease variations for D-Bifunctional Protein Deficiency:

6 (show top 50) (show all 115)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HSD17B4 NM_000414.3(HSD17B4): c.1210_1261del52 (p.Val404Glufs) deletion Pathogenic rs1554065670 5:118837736-118837787 5:119502041-119502092
2 HSD17B4 NM_000414.3(HSD17B4): c.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic rs1554065254 5:118835012-118835248 5:119499317-119499553
3 HSD17B4 NM_000414.4(HSD17B4): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs25640 5:118811533-118811533 5:119475838-119475838
4 HSD17B4 HSD17B4, 138-BP DEL deletion Pathogenic
5 HSD17B4 HSD17B4, 2-BP DEL, 422AG deletion Pathogenic
6 HSD17B4 NM_000414.4(HSD17B4): c.302+3_302+6del deletion Pathogenic rs863225438 5:118811423-118811426 5:119475728-119475731
7 HSD17B4 NM_000414.4(HSD17B4): c.1578del (p.Phe526fs) deletion Pathogenic 5:118861616-118861616 5:119525921-119525921
8 HSD17B4 NM_000414.4(HSD17B4): c.1704T> A (p.Tyr568Ter) single nucleotide variant Pathogenic 5:118862851-118862851 5:119527156-119527156
9 HSD17B4 NM_000414.4(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 5:118788316-118788316 5:119452621-119452621
10 HSD17B4 NM_000414.4(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 5:118844871-118844871 5:119509176-119509176
11 HSD17B4 NM_000414.4(HSD17B4): c.2029C> T (p.Gln677Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751646311 5:118872153-118872153 5:119536458-119536458
12 HSD17B4 NM_000414.4(HSD17B4): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs969485098 5:118829515-118829515 5:119493820-119493820
13 HSD17B4 NM_000414.4(HSD17B4): c.1628_1629GT[5] (p.Leu545fs) short repeat Pathogenic/Likely pathogenic rs1057517323 5:118861668-118861671 5:119525973-119525976
14 HSD17B4 NM_000414.4(HSD17B4): c.1516C> T (p.Arg506Cys) single nucleotide variant Pathogenic/Likely pathogenic rs766199971 5:118860923-118860923 5:119525228-119525228
15 HSD17B4 NM_000414.4(HSD17B4): c.1334-2A> T single nucleotide variant Likely pathogenic rs1554066421 5:118844834-118844834 5:119509139-119509139
16 HSD17B4 NM_000414.4(HSD17B4): c.1748_1749del (p.Arg583fs) deletion Likely pathogenic rs1554068426 5:118862893-118862895 5:119527200-119527201
17 HSD17B4 NM_000414.4(HSD17B4): c.1504-2A> C single nucleotide variant Likely pathogenic rs1554068134 5:118860909-118860909 5:119525214-119525214
18 HSD17B4 NM_000414.4(HSD17B4): c.1993+2T> G single nucleotide variant Likely pathogenic rs1554068960 5:118867101-118867101 5:119531406-119531406
19 HSD17B4 NM_000414.4(HSD17B4): c.2121+1G> C single nucleotide variant Likely pathogenic rs1554069610 5:118872246-118872246 5:119536551-119536551
20 HSD17B4 NM_000414.4(HSD17B4): c.1715_1716CT[1] (p.Leu573fs) short repeat Likely pathogenic rs1057516936 5:118862864-118862865 5:119527169-119527170
21 HSD17B4 NM_000414.4(HSD17B4): c.1907del (p.Lys636fs) deletion Likely pathogenic rs1057516312 5:118867013-118867013 5:119531318-119531318
22 HSD17B4 NM_000414.4(HSD17B4): c.1936_1940del (p.Val646fs) deletion Likely pathogenic rs1057517152 5:118867042-118867046 5:119531347-119531351
23 HSD17B4 NM_000414.4(HSD17B4): c.67C> T (p.Arg23Ter) single nucleotide variant Likely pathogenic rs765702241 5:118792018-118792018 5:119456323-119456323
24 HSD17B4 NM_000414.4(HSD17B4): c.296dup (p.Asn99fs) duplication Likely pathogenic rs1057516672 5:118811416-118811416 5:119475721-119475721
25 HSD17B4 NM_000414.4(HSD17B4): c.349+1G> T single nucleotide variant Likely pathogenic rs1057516958 5:118811566-118811566 5:119475871-119475871
26 HSD17B4 NM_000414.4(HSD17B4): c.607_610del (p.Thr203fs) deletion Likely pathogenic rs1057516310 5:118814701-118814704 5:119479006-119479009
27 HSD17B4 NM_000414.4(HSD17B4): c.709_712del (p.Phe237fs) deletion Likely pathogenic rs1057516750 5:118824973-118824976 5:119489278-119489281
28 HSD17B4 NM_000414.4(HSD17B4): c.872C> G (p.Ser291Ter) single nucleotide variant Likely pathogenic rs1057516269 5:118832241-118832241 5:119496546-119496546
29 HSD17B4 NM_000414.4(HSD17B4): c.973-2A> C single nucleotide variant Likely pathogenic rs1057517118 5:118835010-118835010 5:119499315-119499315
30 HSD17B4 NM_000414.4(HSD17B4): c.1268T> G (p.Leu423Ter) single nucleotide variant Likely pathogenic rs1057516735 5:118842519-118842519 5:119506824-119506824
31 HSD17B4 NM_000414.4(HSD17B4): c.1300_1303del (p.Asp434fs) deletion Likely pathogenic rs1057517045 5:118842551-118842554 5:119506856-119506859
32 HSD17B4 NM_000414.4(HSD17B4): c.1369A> G (p.Asn457Asp) single nucleotide variant Likely pathogenic rs137853097 5:118844871-118844871 5:119509176-119509176
33 HSD17B4 NM_000414.4(HSD17B4): c.1438-2A> C single nucleotide variant Likely pathogenic rs1057516273 5:118850674-118850674 5:119514979-119514979
34 HSD17B4 NM_000414.4(HSD17B4): c.1440_1441del (p.Ala481fs) deletion Likely pathogenic rs1057516859 5:118850678-118850679 5:119514983-119514984
35 HSD17B4 NM_000414.4(HSD17B4): c.1574-1G> A single nucleotide variant Likely pathogenic rs755412738 5:118861611-118861611 5:119525916-119525916
36 HSD17B4 NM_000414.4(HSD17B4): c.1210-1G> A single nucleotide variant Likely pathogenic rs1554065671 5:118837735-118837735 5:119502040-119502040
37 HSD17B4 NM_000414.4(HSD17B4): c.1994-2A> G single nucleotide variant Likely pathogenic rs1554069592 5:118872116-118872116 5:119536421-119536421
38 HSD17B4 NM_000414.4(HSD17B4): c.221-1G> C single nucleotide variant Likely pathogenic rs1554062168 5:118810095-118810095 5:119474400-119474400
39 HSD17B4 NM_000414.4(HSD17B4): c.270del (p.Phe90fs) deletion Likely pathogenic rs1276397342 5:118810141-118810142 5:119474450-119474450
40 HSD17B4 NM_000414.4(HSD17B4): c.623-1G> A single nucleotide variant Likely pathogenic rs1554064083 5:118824886-118824886 5:119489191-119489191
41 HSD17B4 NM_000414.4(HSD17B4): c.220+2T> C single nucleotide variant Likely pathogenic rs1231357043 5:118809712-118809712 5:119474017-119474017
42 HSD17B4 NM_000414.4(HSD17B4): c.281-2A> G single nucleotide variant Likely pathogenic rs1554062343 5:118811399-118811399 5:119475704-119475704
43 HSD17B4 NM_000414.4(HSD17B4): c.435-2A> T single nucleotide variant Likely pathogenic rs1171426785 5:118814527-118814527 5:119478832-119478832
44 HSD17B4 NM_000414.4(HSD17B4): c.56_58+3del deletion Likely pathogenic rs1554059509 5:118788324-118788330 5:119452631-119452636
45 HSD17B4 NM_000414.4(HSD17B4): c.113-1G> T single nucleotide variant Likely pathogenic rs1224475289 5:118809602-118809602 5:119473907-119473907
46 HSD17B4 NM_000414.4(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Likely pathogenic rs587777443 5:118860954-118860954 5:119525259-119525259
47 HSD17B4 NM_000414.4(HSD17B4): c.788del (p.Pro263fs) deletion Likely pathogenic 5:118829561-118829561 5:119493866-119493866
48 HSD17B4 NM_000414.4(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 5:118788273-118788273 5:119452578-119452578
49 HSD17B4 NM_000414.4(HSD17B4): c.394C> T (p.Arg132Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs773305477 5:118813156-118813156 5:119477461-119477461
50 HSD17B4 NM_000414.4(HSD17B4): c.666C> G (p.Val222=) single nucleotide variant Conflicting interpretations of pathogenicity rs150677536 5:118824930-118824930 5:119489235-119489235

UniProtKB/Swiss-Prot genetic disease variations for D-Bifunctional Protein Deficiency:

74
# Symbol AA change Variation ID SNP ID
1 HSD17B4 p.Gly16Ser VAR_037576 rs137853096
2 HSD17B4 p.Arg106Pro VAR_065906 rs25640
3 HSD17B4 p.Asn457Tyr VAR_065908 rs137853097

Expression for D-Bifunctional Protein Deficiency

Search GEO for disease gene expression data for D-Bifunctional Protein Deficiency.

Pathways for D-Bifunctional Protein Deficiency

Pathways related to D-Bifunctional Protein Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Primary bile acid biosynthesis hsa00120
2 Biosynthesis of unsaturated fatty acids hsa01040
3 Peroxisome hsa04146

Pathways related to D-Bifunctional Protein Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 SCP2 HSD17B4 HADHB HADH EHHADH CAT
2
Show member pathways
11.66 HADHB HADH EHHADH
3
Show member pathways
11.56 HADH EHHADH CAT
4 11.51 HADH EHHADH
5 11.38 SCP2 EHHADH ACOX1
6
Show member pathways
11.36 HADHB HADH
7 11.29 HADH EHHADH
8
Show member pathways
11.28 SCP2 HSD17B4 EHHADH ACOX1
9 11.27 SCP2 HSD17B4 EHHADH CAT ACOX1
10
Show member pathways
11.18 SCP2 HADHB HADH EHHADH
11
Show member pathways
11.07 HADH EHHADH
12 10.89 SCP2 EHHADH
13
Show member pathways
10.82 SCP2 HSD17B4 HADHB HADH EHHADH ACOX1
14
Show member pathways
10.73 HADHB EHHADH
15
Show member pathways
10.37 HADHB HADH

GO Terms for D-Bifunctional Protein Deficiency

Cellular components related to D-Bifunctional Protein Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.35 SCP2 HSD17B4 EHHADH CAT ACOX1
2 peroxisomal membrane GO:0005778 9.33 HSD17B4 CAT ACOX1
3 peroxisomal matrix GO:0005782 9.02 SCP2 HSD17B4 EHHADH CAT ACOX1

Biological processes related to D-Bifunctional Protein Deficiency according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 HSD17B4 HADH EHHADH DHRS11 CAT ACOX1
2 lipid metabolic process GO:0006629 9.8 HSD17B4 HADHB HADH EHHADH DHRS11 ACOX1
3 fatty acid metabolic process GO:0006631 9.65 HSD17B4 HADHB HADH EHHADH ACOX1
4 steroid biosynthetic process GO:0006694 9.63 SCP2D1 SCP2 DHRS11
5 response to insulin GO:0032868 9.54 HADH CAT
6 alpha-linolenic acid metabolic process GO:0036109 9.54 SCP2 HSD17B4 ACOX1
7 phospholipid transport GO:0015914 9.52 SCP2D1 SCP2
8 response to activity GO:0014823 9.51 HADH CAT
9 bile acid biosynthetic process GO:0006699 9.49 SCP2 HSD17B4
10 very long-chain fatty acid metabolic process GO:0000038 9.48 HSD17B4 ACOX1
11 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.46 SCP2 HSD17B4 EHHADH ACOX1
12 positive regulation of intracellular cholesterol transport GO:0032385 9.43 SCP2D1 SCP2
13 protein targeting to peroxisome GO:0006625 9.35 SCP2 HSD17B4 EHHADH CAT ACOX1
14 fatty acid beta-oxidation GO:0006635 9.02 HSD17B4 HADHB HADH EHHADH ACOX1

Molecular functions related to D-Bifunctional Protein Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.63 HSD17B4 HADH EHHADH DHRS11 CAT ACOX1
2 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.37 SCP2 HADHB
3 enoyl-CoA hydratase activity GO:0004300 9.32 HADHB EHHADH
4 signaling receptor binding GO:0005102 9.26 SCP2 CAT
5 long-chain-enoyl-CoA hydratase activity GO:0016508 9.13 HSD17B4 HADHB EHHADH
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.92 HSD17B4 HADHB HADH EHHADH

Sources for D-Bifunctional Protein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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