MCID: DBF001
MIFTS: 57

D-Bifunctional Protein Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic 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 75 37 13 55 15
Bifunctional Peroxisomal Enzyme Deficiency 25 29 6 73
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
Pseudo-Zellweger Syndrome 25 73
Protein Deficiency, D-Bifunctional 40
Bifunctional Enzyme Deficiency 53
Zellweger-Like Syndrome 25
Dbpd 75

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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for D-Bifunctional Protein Deficiency

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)

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 Peroxisome. The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 75 D-bifunctional protein deficiency: Disorder of peroxisomal fatty acid beta-oxidation.

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.

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.

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.

Wikipedia : 76 D-Bifunctional protein deficiency (officially called 17β-hydroxysteroid dehydrogenase IV deficiency) is... 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 26)
# Related Disease Score Top Affiliating Genes
1 peroxisomal acyl-coa oxidase deficiency 29.9 ACOX1 CAT HSD17B4 PEX5 SCP2
2 peroxisomal disease 28.5 CAT HADHB HSD17B4 PEX5
3 zellweger-like syndrome without peroxisomal anomalies 12.2
4 alpha-methylacetoacetic aciduria 11.4
5 mitochondrial trifunctional protein deficiency 10.2 EHHADH HADHB
6 retinitis 10.0
7 alpha-methylacyl-coa racemase deficiency 9.9 ACOX1 HSD17B4 SCP2
8 infantile epileptic encephalopathy 9.9
9 peripheral nervous system disease 9.9
10 polyhydramnios 9.9
11 neuropathy 9.9
12 zellweger syndrome 9.9
13 hypotonia 9.9
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
15 perrault syndrome 9.8
16 syndromic x-linked intellectual disability type 10 9.5 HADH HSD17B6
17 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.5 HADH HADHB
18 rhizomelic chondrodysplasia punctata, type 2 9.5 CAT PEX5
19 peroxisomal biogenesis disorders 9.5 CAT HSD17B4 PEX5
20 peroxisome biogenesis disorder 1b 9.4 CAT HSD17B4 PEX5
21 acyl-coa dehydrogenase, very long-chain, deficiency of 9.4 HADH HADHB
22 rhizomelic chondrodysplasia punctata 9.4 HADHB PEX5
23 adrenoleukodystrophy 9.1 ACOX1 CAT EHHADH PEX5
24 refsum disease, classic 9.1 CAT HSD17B4 PEX5 SCP2
25 rhizomelic chondrodysplasia punctata, type 1 8.9 ACOX1 HADHB HSD17B4 PEX5 SCP2
26 neonatal adrenoleukodystrophy 8.6 ACOX1 CAT EHHADH PEX5 SCP2

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

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal ascites

Head And Neck Mouth:
high-arched palate

Skeletal:
delayed bone maturation
generalized osteopenia
calcific stippling

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

Skeletal Feet:
talipes equinovarus
hammertoes

Abdomen Gastrointestinal:
poor feeding

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

Human phenotypes related to D-Bifunctional Protein Deficiency:

32 (show top 50) (show all 56)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 pectus excavatum 32 HP:0000767
5 frontal bossing 32 HP:0002007
6 high palate 32 HP:0000218
7 nystagmus 32 HP:0000639
8 osteopenia 32 HP:0000938
9 seizures 32 HP:0001250
10 failure to thrive 32 HP:0001508
11 global developmental delay 32 HP:0001263
12 hepatomegaly 32 HP:0002240
13 delayed skeletal maturation 32 HP:0002750
14 depressed nasal bridge 32 HP:0005280
15 abnormal facial shape 32 HP:0001999
16 visual impairment 32 HP:0000505
17 neonatal hypotonia 32 HP:0001319
18 feeding difficulties in infancy 32 HP:0008872
19 decreased muscle mass 32 HP:0003199
20 long philtrum 32 HP:0000343
21 micrognathia 32 HP:0000347
22 retrognathia 32 HP:0000278
23 strabismus 32 HP:0000486
24 epicanthus 32 HP:0000286
25 dolichocephaly 32 HP:0000268
26 decreased nerve conduction velocity 32 very rare (1%) HP:0000762
27 hepatic steatosis 32 HP:0001397
28 elevated hepatic transaminases 32 HP:0002910
29 ventriculomegaly 32 HP:0002119
30 aplasia/hypoplasia of the cerebellum 32 HP:0007360
31 primary adrenal insufficiency 32 HP:0008207
32 visual loss 32 HP:0000572
33 upslanted palpebral fissure 32 HP:0000582
34 polyhydramnios 32 HP:0001561
35 talipes equinovarus 32 HP:0001762
36 cholestasis 32 HP:0001396
37 split hand 32 HP:0001171
38 high forehead 32 HP:0000348
39 large fontanelles 32 HP:0000239
40 polymicrogyria 32 HP:0002126
41 hypoplasia of the corpus callosum 32 HP:0002079
42 corpus callosum atrophy 32 HP:0007371
43 hammertoe 32 HP:0001765
44 thoracic hypoplasia 32 HP:0005257
45 delayed cranial suture closure 32 HP:0000270
46 renal cyst 32 HP:0000107
47 cortical dysplasia 32 HP:0002539
48 generalized cerebral atrophy/hypoplasia 32 HP:0007058
49 gliosis 32 HP:0002171
50 cerebral dysmyelination 32 HP:0007266

MGI Mouse Phenotypes related to D-Bifunctional Protein Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 ACOX1 EHHADH HADH HADHB HSD17B4 PEX5
2 homeostasis/metabolism MP:0005376 9.56 EHHADH HADH HADHB HSD17B4 PEX5 SCP2
3 liver/biliary system MP:0005370 9.1 ACOX1 EHHADH HADHB HSD17B4 PEX5 SCP2

Drugs & Therapeutics for D-Bifunctional Protein Deficiency

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Alkylating Agents Phase 2
11 Antilymphocyte Serum Phase 2
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Immunosuppressive Agents Phase 2
16 N-monoacetylcystine Phase 2
17 Thioctic Acid Phase 2
18 Tocopherols Phase 2
19 Tocotrienols Phase 2
20 Vitamins Phase 2
21 Alpha-lipoic Acid Nutraceutical Phase 2
22 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
23
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
24
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
25 Bile Acids and Salts Not Applicable
26 Cathartics Not Applicable
27 Cholic Acids Not Applicable
28 Gastrointestinal Agents Not Applicable
29 Laxatives Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
2 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable 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, Kidney, Eye, Bone, Cortex, Adrenal Cortex, Cerebellum

Publications for D-Bifunctional Protein Deficiency

Articles related to D-Bifunctional Protein Deficiency:

(show all 25)
# Title Authors Year
1
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. ( 28017249 )
2017
2
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. ( 27790638 )
2016
3
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care. ( 26733776 )
2015
4
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. ( 25882080 )
2015
5
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. ( 25967389 )
2015
6
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. ( 24553428 )
2014
7
On the molecular basis of D-bifunctional protein deficiency type III. ( 23308274 )
2013
8
Mild case of D-bifunctional protein deficiency associated with novel gene mutations. ( 22507161 )
2012
9
Specific combination of compound heterozygous mutations in 17I^-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. ( 23181892 )
2012
10
A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. ( 21851493 )
2011
11
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. ( 20949532 )
2010
12
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging. ( 20848092 )
2010
13
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. ( 18611434 )
2008
14
D-bifunctional protein deficiency associated with drug resistant infantile spasms. ( 16919904 )
2007
15
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. ( 16385454 )
2006
16
Clinical and biochemical spectrum of D-bifunctional protein deficiency. ( 16278854 )
2006
17
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall. ( 16435222 )
2005
18
Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency. ( 15235808 )
2004
19
Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. ( 12948743 )
2003
20
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. ( 11810648 )
2002
21
Molecular basis of D-bifunctional protein deficiency. ( 11165012 )
2001
22
D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. ( 11743515 )
2001
23
Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome. ( 10700594 )
2000
24
Enoyl-CoA hydratase deficiency: identification of a new type of D- bifunctional protein deficiency. ( 10400999 )
1999
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. ( 9831634 )
1998

Variations for D-Bifunctional Protein Deficiency

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

75
# 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

ClinVar genetic disease variations for D-Bifunctional Protein Deficiency:

6
(show top 50) (show all 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B4 NM_000414.3(HSD17B4): c.1210_1261del52 (p.Val404Glufs) deletion Pathogenic GRCh37 Chromosome 5, 118837736: 118837787
2 HSD17B4 NM_000414.3(HSD17B4): c.1210_1261del52 (p.Val404Glufs) deletion Pathogenic GRCh38 Chromosome 5, 119502041: 119502092
3 HSD17B4 NM_000414.3(HSD17B4): c.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic GRCh37 Chromosome 5, 118835012: 118835248
4 HSD17B4 NM_000414.3(HSD17B4): c.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic GRCh38 Chromosome 5, 119499317: 119499553
5 HSD17B4 NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 GRCh37 Chromosome 5, 118788316: 118788316
6 HSD17B4 NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 GRCh38 Chromosome 5, 119452621: 119452621
7 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
8 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh38 Chromosome 5, 119509176: 119509176
9 HSD17B4 NM_000414.3(HSD17B4): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs25640 GRCh37 Chromosome 5, 118811533: 118811533
10 HSD17B4 NM_000414.3(HSD17B4): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs25640 GRCh38 Chromosome 5, 119475838: 119475838
11 HSD17B4 HSD17B4, 138-BP DEL deletion Pathogenic
12 HSD17B4 HSD17B4, 2-BP DEL, 422AG deletion Pathogenic
13 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh37 Chromosome 5, 118850709: 118850709
14 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh38 Chromosome 5, 119515014: 119515014
15 HSD17B4 NM_000414.3(HSD17B4): c.1767+8T> C single nucleotide variant Benign/Likely benign rs190659146 GRCh37 Chromosome 5, 118862922: 118862922
16 HSD17B4 NM_000414.3(HSD17B4): c.1767+8T> C single nucleotide variant Benign/Likely benign rs190659146 GRCh38 Chromosome 5, 119527227: 119527227
17 HSD17B4 NM_000414.3(HSD17B4): c.317G> A (p.Arg106His) single nucleotide variant Benign rs25640 GRCh37 Chromosome 5, 118811533: 118811533
18 HSD17B4 NM_000414.3(HSD17B4): c.317G> A (p.Arg106His) single nucleotide variant Benign rs25640 GRCh38 Chromosome 5, 119475838: 119475838
19 HSD17B4 NM_000414.3(HSD17B4): c.666C> G (p.Val222=) single nucleotide variant Conflicting interpretations of pathogenicity rs150677536 GRCh37 Chromosome 5, 118824930: 118824930
20 HSD17B4 NM_000414.3(HSD17B4): c.666C> G (p.Val222=) single nucleotide variant Conflicting interpretations of pathogenicity rs150677536 GRCh38 Chromosome 5, 119489235: 119489235
21 HSD17B4 NM_000414.3(HSD17B4): c.64G> T (p.Gly22Cys) single nucleotide variant no interpretation for the single variant rs794729224 GRCh38 Chromosome 5, 119456320: 119456320
22 HSD17B4 NM_000414.3(HSD17B4): c.64G> T (p.Gly22Cys) single nucleotide variant no interpretation for the single variant rs794729224 GRCh37 Chromosome 5, 118792015: 118792015
23 HSD17B4 NM_000414.3(HSD17B4): c.819G> T (p.Trp273Cys) single nucleotide variant no interpretation for the single variant rs368744809 GRCh38 Chromosome 5, 119493897: 119493897
24 HSD17B4 NM_000414.3(HSD17B4): c.819G> T (p.Trp273Cys) single nucleotide variant no interpretation for the single variant rs368744809 GRCh37 Chromosome 5, 118829592: 118829592
25 HSD17B4 NM_000414.3(HSD17B4): c.302+1_302+4delGTGA deletion Pathogenic rs863225438 GRCh37 Chromosome 5, 118811423: 118811426
26 HSD17B4 NM_000414.3(HSD17B4): c.302+1_302+4delGTGA deletion Pathogenic rs863225438 GRCh38 Chromosome 5, 119475728: 119475731
27 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh38 Chromosome 5, 119452578: 119452578
28 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh37 Chromosome 5, 118788273: 118788273
29 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh38 Chromosome 5, 119477487: 119477487
30 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh37 Chromosome 5, 118813182: 118813182
31 HSD17B4 NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser) single nucleotide variant Benign/Likely benign rs1143650 GRCh38 Chromosome 5, 119496549: 119496549
32 HSD17B4 NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser) single nucleotide variant Benign/Likely benign rs1143650 GRCh37 Chromosome 5, 118832244: 118832244
33 HSD17B4 NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met) single nucleotide variant Uncertain significance rs150326995 GRCh38 Chromosome 5, 119496624: 119496624
34 HSD17B4 NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met) single nucleotide variant Uncertain significance rs150326995 GRCh37 Chromosome 5, 118832319: 118832319
35 HSD17B4 NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg) single nucleotide variant Benign rs11539471 GRCh38 Chromosome 5, 119525243: 119525243
36 HSD17B4 NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg) single nucleotide variant Benign rs11539471 GRCh37 Chromosome 5, 118860938: 118860938
37 HSD17B4 NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs184492796 GRCh38 Chromosome 5, 119525278: 119525278
38 HSD17B4 NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs184492796 GRCh37 Chromosome 5, 118860973: 118860973
39 HSD17B4 NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val) single nucleotide variant Benign rs11205 GRCh37 Chromosome 5, 118861713: 118861713
40 HSD17B4 NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val) single nucleotide variant Benign rs11205 GRCh38 Chromosome 5, 119526018: 119526018
41 HSD17B4 NM_000414.3(HSD17B4): c.1791C> T (p.Val597=) single nucleotide variant Benign/Likely benign rs2560722 GRCh38 Chromosome 5, 119529917: 119529917
42 HSD17B4 NM_000414.3(HSD17B4): c.1791C> T (p.Val597=) single nucleotide variant Benign/Likely benign rs2560722 GRCh37 Chromosome 5, 118865612: 118865612
43 HSD17B4 NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile) single nucleotide variant Benign/Likely benign rs28943592 GRCh37 Chromosome 5, 118872184: 118872184
44 HSD17B4 NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile) single nucleotide variant Benign/Likely benign rs28943592 GRCh38 Chromosome 5, 119536489: 119536489
45 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh38 Chromosome 5, 119541965: 119541965
46 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh37 Chromosome 5, 118877660: 118877660
47 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh37 Chromosome 5, 118877677: 118877677
48 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh38 Chromosome 5, 119541982: 119541982
49 HSD17B4 NM_000414.3(HSD17B4): c.*6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs111671384 GRCh38 Chromosome 5, 119542000: 119542000
50 HSD17B4 NM_000414.3(HSD17B4): c.*6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs111671384 GRCh37 Chromosome 5, 118877695: 118877695

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 Peroxisome hsa04146

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ACOX1 CAT EHHADH HADH HADHB HSD17B4
2 12.22 CAT HSD17B6 PEX5
3
Show member pathways
11.94 CAT EHHADH HADH
4
Show member pathways
11.74 EHHADH HADH HADHB
5
Show member pathways
11.59 ACOX1 EHHADH HADH HADHB
6 11.47 ACOX1 EHHADH SCP2
7
Show member pathways
11.4 HADH HADHB
8 11.35 ACOX1 CAT EHHADH HSD17B4 PEX5 SCP2
9 11.34 EHHADH HADH
10
Show member pathways
11.3 ACOX1 HADH HADHB
11
Show member pathways
11.28 EHHADH HADH HADHB SCP2
12
Show member pathways
11.19 ACOX1 HSD17B4 SCP2
13
Show member pathways
11.18 ACOX1 EHHADH HSD17B4 SCP2
14
Show member pathways
11.13 EHHADH HADH
15 10.95 EHHADH SCP2
16
Show member pathways
10.82 ACOX1 EHHADH HADH HADHB HSD17B4 SCP2
17 10.59 EHHADH HADHB
18
Show member pathways
10.46 HADH HADHB

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 mitochondrion GO:0005739 9.86 ACOX1 CAT EHHADH HADH HADHB HSD17B4
2 intracellular membrane-bounded organelle GO:0043231 9.62 ACOX1 CAT HSD17B6 SCP2
3 peroxisomal membrane GO:0005778 9.46 ACOX1 CAT HSD17B4 PEX5
4 peroxisomal matrix GO:0005782 9.35 ACOX1 CAT EHHADH HSD17B4 SCP2
5 peroxisome GO:0005777 9.1 ACOX1 CAT EHHADH HSD17B4 PEX5 SCP2

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 9.85 ACOX1 CAT EHHADH HADH HSD17B4 HSD17B6
2 lipid metabolic process GO:0006629 9.8 ACOX1 EHHADH HADH HADHB HSD17B4 HSD17B6
3 metabolic process GO:0008152 9.73 ACOX1 EHHADH HADHB SCP2
4 fatty acid metabolic process GO:0006631 9.55 ACOX1 EHHADH HADH HADHB HSD17B4
5 response to insulin GO:0032868 9.54 CAT HADH
6 steroid biosynthetic process GO:0006694 9.52 SCP2 SCP2D1
7 phospholipid transport GO:0015914 9.51 SCP2 SCP2D1
8 response to activity GO:0014823 9.49 CAT HADH
9 bile acid biosynthetic process GO:0006699 9.48 HSD17B4 SCP2
10 peroxisome organization GO:0007031 9.46 PEX5 SCP2
11 alpha-linolenic acid metabolic process GO:0036109 9.43 ACOX1 HSD17B4 SCP2
12 positive regulation of intracellular cholesterol transport GO:0032385 9.4 SCP2 SCP2D1
13 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.26 ACOX1 EHHADH HSD17B4 SCP2
14 fatty acid beta-oxidation GO:0006635 9.1 ACOX1 EHHADH HADH HADHB HSD17B4 PEX5

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.65 CAT EHHADH PEX5
2 signaling receptor binding GO:0005102 9.65 ACOX1 CAT EHHADH HSD17B4 SCP2
3 catalytic activity GO:0003824 9.63 HADHB HSD17B6 SCP2
4 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.43 HADHB SCP2
5 oxidoreductase activity GO:0016491 9.43 ACOX1 CAT EHHADH HADH HSD17B4 HSD17B6
6 sterol transporter activity GO:0015248 9.4 SCP2 SCP2D1
7 enoyl-CoA hydratase activity GO:0004300 9.37 EHHADH HADHB
8 long-chain-enoyl-CoA hydratase activity GO:0016508 9.32 EHHADH HSD17B4
9 sterol binding GO:0032934 9.16 SCP2 SCP2D1
10 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.92 EHHADH HADH HADHB HSD17B4

Sources for D-Bifunctional Protein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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