DBPD
MCID: DBF001
MIFTS: 56

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 58 12 54 26 76 38 13 56 15
Bifunctional Peroxisomal Enzyme Deficiency 26 30 6 74
17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency 58 54 26
Peroxisomal Bifunctional Enzyme Deficiency 58 54 26
Pbfe Deficiency 58 54 26
Dbp Deficiency 58 54 26
Pseudo-Zellweger Syndrome 26 74
Protein Deficiency, D-Bifunctional 41
Bifunctional Enzyme Deficiency 54
Zellweger-Like Syndrome 26
Dbpd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
d-bifunctional protein deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for D-Bifunctional Protein Deficiency

OMIM : 58 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 Biosynthesis of unsaturated fatty acids. The drugs Fludarabine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye, 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 D-bifunctional protein deficiency: Disorder of peroxisomal fatty acid beta-oxidation.

Wikipedia : 77 D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder.... more...

Related Diseases for D-Bifunctional Protein Deficiency

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:

33 (show top 50) (show all 56)
# Description HPO Frequency HPO Source Accession
1 decreased nerve conduction velocity 33 very rare (1%) HP:0000762
2 cerebral hypoplasia 33 very rare (1%) HP:0006872
3 macrocephaly 33 HP:0000256
4 hypertelorism 33 HP:0000316
5 low-set ears 33 HP:0000369
6 pectus excavatum 33 HP:0000767
7 frontal bossing 33 HP:0002007
8 high palate 33 HP:0000218
9 nystagmus 33 HP:0000639
10 osteopenia 33 HP:0000938
11 seizures 33 HP:0001250
12 failure to thrive 33 HP:0001508
13 global developmental delay 33 HP:0001263
14 hepatomegaly 33 HP:0002240
15 delayed skeletal maturation 33 HP:0002750
16 depressed nasal bridge 33 HP:0005280
17 abnormal facial shape 33 HP:0001999
18 visual impairment 33 HP:0000505
19 neonatal hypotonia 33 HP:0001319
20 feeding difficulties in infancy 33 HP:0008872
21 decreased muscle mass 33 HP:0003199
22 long philtrum 33 HP:0000343
23 micrognathia 33 HP:0000347
24 retrognathia 33 HP:0000278
25 strabismus 33 HP:0000486
26 epicanthus 33 HP:0000286
27 dolichocephaly 33 HP:0000268
28 hepatic steatosis 33 HP:0001397
29 ventriculomegaly 33 HP:0002119
30 aplasia/hypoplasia of the cerebellum 33 HP:0007360
31 primary adrenal insufficiency 33 HP:0008207
32 talipes equinovarus 33 HP:0001762
33 visual loss 33 HP:0000572
34 upslanted palpebral fissure 33 HP:0000582
35 polyhydramnios 33 HP:0001561
36 cholestasis 33 HP:0001396
37 split hand 33 HP:0001171
38 high forehead 33 HP:0000348
39 large fontanelles 33 HP:0000239
40 polymicrogyria 33 HP:0002126
41 hypoplasia of the corpus callosum 33 HP:0002079
42 corpus callosum atrophy 33 HP:0007371
43 hammertoe 33 HP:0001765
44 thoracic hypoplasia 33 HP:0005257
45 delayed cranial suture closure 33 HP:0000270
46 renal cyst 33 HP:0000107
47 cortical dysplasia 33 HP:0002539
48 generalized cerebral atrophy/hypoplasia 33 HP:0007058
49 gliosis 33 HP:0002171
50 cerebral dysmyelination 33 HP:0007266

Symptoms via clinical synopsis from OMIM:

58
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

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal ascites

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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 DHRS11 HSD17B4 HSD17B6

MGI Mouse Phenotypes related to D-Bifunctional Protein Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
2
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
3
alemtuzumab Approved, Investigational Phase 2 216503-57-0
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
rituximab Approved Phase 2 174722-31-7 10201696
6
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
7
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Tocotrienol Investigational Phase 2 6829-55-6
11 N-monoacetylcystine Phase 2
12 Tocopherols Phase 2
13 Alpha-lipoic Acid Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Antimetabolites Phase 2
16 Immunosuppressive Agents Phase 2
17 Vitamins Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Immunologic Factors Phase 2
20 Tocotrienols Phase 2
21 Alkylating Agents Phase 2
22 Thioctic Acid Phase 2
23 Antilymphocyte Serum Phase 2
24
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
25
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
26 Cathartics Not Applicable
27 Gastrointestinal Agents Not Applicable
28 Laxatives Not Applicable
29 Cholic Acids Not Applicable
30 Bile Acids and Salts 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 30 HSD17B4

Anatomical Context for D-Bifunctional Protein Deficiency

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

42
Liver, Kidney, Eye, Bone, Cerebellum, Cortex, Adrenal Cortex

Publications for D-Bifunctional Protein Deficiency

Articles related to D-Bifunctional Protein Deficiency:

(show all 27)
# Title Authors Year
1
D-bifunctional Protein Deficiency: A Case Report of a Turkish Child. ( 30692775 )
2019
2
Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy. ( 30396834 )
2018
3
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. ( 28017249 )
2017
4
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. ( 27790638 )
2016
5
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care. ( 26733776 )
2015
6
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. ( 25882080 )
2015
7
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. ( 25967389 )
2015
8
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. ( 24553428 )
2014
9
On the molecular basis of D-bifunctional protein deficiency type III. ( 23308274 )
2013
10
Mild case of D-bifunctional protein deficiency associated with novel gene mutations. ( 22507161 )
2012
11
Specific combination of compound heterozygous mutations in 17I^-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. ( 23181892 )
2012
12
A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. ( 21851493 )
2011
13
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. ( 20949532 )
2010
14
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging. ( 20848092 )
2010
15
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
16
D-bifunctional protein deficiency associated with drug resistant infantile spasms. ( 16919904 )
2007
17
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. ( 16385454 )
2006
18
Clinical and biochemical spectrum of D-bifunctional protein deficiency. ( 16278854 )
2006
19
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall. ( 16435222 )
2005
20
Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency. ( 15235808 )
2004
21
Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. ( 12948743 )
2003
22
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. ( 11810648 )
2002
23
Molecular basis of D-bifunctional protein deficiency. ( 11165012 )
2001
24
D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. ( 11743515 )
2001
25
Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome. ( 10700594 )
2000
26
Enoyl-CoA hydratase deficiency: identification of a new type of D- bifunctional protein deficiency. ( 10400999 )
1999
27
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:

76
# 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 218)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh37 Chromosome 5, 118850709: 118850709
2 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh38 Chromosome 5, 119515014: 119515014
3 HSD17B4 NM_000414.3(HSD17B4): c.1767+8T> C single nucleotide variant Benign/Likely benign rs190659146 GRCh37 Chromosome 5, 118862922: 118862922
4 HSD17B4 NM_000414.3(HSD17B4): c.1767+8T> C single nucleotide variant Benign/Likely benign rs190659146 GRCh38 Chromosome 5, 119527227: 119527227
5 HSD17B4 NM_000414.3(HSD17B4): c.317G> A (p.Arg106His) single nucleotide variant Benign rs25640 GRCh37 Chromosome 5, 118811533: 118811533
6 HSD17B4 NM_000414.3(HSD17B4): c.317G> A (p.Arg106His) single nucleotide variant Benign rs25640 GRCh38 Chromosome 5, 119475838: 119475838
7 HSD17B4 NM_000414.3(HSD17B4): c.666C> G (p.Val222=) single nucleotide variant Conflicting interpretations of pathogenicity rs150677536 GRCh37 Chromosome 5, 118824930: 118824930
8 HSD17B4 NM_000414.3(HSD17B4): c.666C> G (p.Val222=) single nucleotide variant Conflicting interpretations of pathogenicity rs150677536 GRCh38 Chromosome 5, 119489235: 119489235
9 HSD17B4 NM_000414.3(HSD17B4): c.302+1_302+4delGTGA deletion Pathogenic rs863225438 GRCh37 Chromosome 5, 118811423: 118811426
10 HSD17B4 NM_000414.3(HSD17B4): c.302+1_302+4delGTGA deletion Pathogenic rs863225438 GRCh38 Chromosome 5, 119475728: 119475731
11 HSD17B4 NM_000414.3(HSD17B4): c.1210_1261del52 (p.Val404Glufs) deletion Pathogenic rs1554065670 GRCh37 Chromosome 5, 118837736: 118837787
12 HSD17B4 NM_000414.3(HSD17B4): c.1210_1261del52 (p.Val404Glufs) deletion Pathogenic rs1554065670 GRCh38 Chromosome 5, 119502041: 119502092
13 HSD17B4 NM_000414.3(HSD17B4): c.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic rs1554065254 GRCh37 Chromosome 5, 118835012: 118835248
14 HSD17B4 NM_000414.3(HSD17B4): c.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic rs1554065254 GRCh38 Chromosome 5, 119499317: 119499553
15 HSD17B4 NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 GRCh37 Chromosome 5, 118788316: 118788316
16 HSD17B4 NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 GRCh38 Chromosome 5, 119452621: 119452621
17 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
18 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh38 Chromosome 5, 119509176: 119509176
19 HSD17B4 NM_000414.3(HSD17B4): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs25640 GRCh37 Chromosome 5, 118811533: 118811533
20 HSD17B4 NM_000414.3(HSD17B4): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs25640 GRCh38 Chromosome 5, 119475838: 119475838
21 HSD17B4 HSD17B4, 138-BP DEL deletion Pathogenic
22 HSD17B4 HSD17B4, 2-BP DEL, 422AG deletion Pathogenic
23 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Uncertain significance rs587777442 GRCh38 Chromosome 5, 119456357: 119456357
24 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Uncertain significance rs587777442 GRCh37 Chromosome 5, 118792052: 118792052
25 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Likely pathogenic rs587777443 GRCh38 Chromosome 5, 119525259: 119525259
26 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Likely pathogenic rs587777443 GRCh37 Chromosome 5, 118860954: 118860954
27 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Uncertain significance rs587777444 GRCh38 Chromosome 5, 119525250: 119525250
28 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Uncertain significance rs587777444 GRCh37 Chromosome 5, 118860945: 118860945
29 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh38 Chromosome 5, 119452578: 119452578
30 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh37 Chromosome 5, 118788273: 118788273
31 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh38 Chromosome 5, 119477487: 119477487
32 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh37 Chromosome 5, 118813182: 118813182
33 HSD17B4 NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser) single nucleotide variant Benign/Likely benign rs1143650 GRCh38 Chromosome 5, 119496549: 119496549
34 HSD17B4 NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser) single nucleotide variant Benign/Likely benign rs1143650 GRCh37 Chromosome 5, 118832244: 118832244
35 HSD17B4 NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met) single nucleotide variant Uncertain significance rs150326995 GRCh37 Chromosome 5, 118832319: 118832319
36 HSD17B4 NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met) single nucleotide variant Uncertain significance rs150326995 GRCh38 Chromosome 5, 119496624: 119496624
37 HSD17B4 NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg) single nucleotide variant Benign rs11539471 GRCh38 Chromosome 5, 119525243: 119525243
38 HSD17B4 NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg) single nucleotide variant Benign rs11539471 GRCh37 Chromosome 5, 118860938: 118860938
39 HSD17B4 NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs184492796 GRCh38 Chromosome 5, 119525278: 119525278
40 HSD17B4 NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs184492796 GRCh37 Chromosome 5, 118860973: 118860973
41 HSD17B4 NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val) single nucleotide variant Benign rs11205 GRCh37 Chromosome 5, 118861713: 118861713
42 HSD17B4 NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val) single nucleotide variant Benign rs11205 GRCh38 Chromosome 5, 119526018: 119526018
43 HSD17B4 NM_000414.3(HSD17B4): c.1791C> T (p.Val597=) single nucleotide variant Benign/Likely benign rs2560722 GRCh38 Chromosome 5, 119529917: 119529917
44 HSD17B4 NM_000414.3(HSD17B4): c.1791C> T (p.Val597=) single nucleotide variant Benign/Likely benign rs2560722 GRCh37 Chromosome 5, 118865612: 118865612
45 HSD17B4 NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile) single nucleotide variant Benign/Likely benign rs28943592 GRCh37 Chromosome 5, 118872184: 118872184
46 HSD17B4 NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile) single nucleotide variant Benign/Likely benign rs28943592 GRCh38 Chromosome 5, 119536489: 119536489
47 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh38 Chromosome 5, 119541965: 119541965
48 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh37 Chromosome 5, 118877660: 118877660
49 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh37 Chromosome 5, 118877677: 118877677
50 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh38 Chromosome 5, 119541982: 119541982

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:

38
# 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 ACOX1 CAT EHHADH HADH HADHB HSD17B4
2
Show member pathways
11.71 EHHADH HADH HADHB
3
Show member pathways
11.61 ACOX1 EHHADH HADH HADHB
4
Show member pathways
11.6 CAT EHHADH HADH
5
Show member pathways
11.55 ACOX1 HSD17B4 SCP2
6 11.45 ACOX1 EHHADH SCP2
7
Show member pathways
11.38 HADH HADHB
8
Show member pathways
11.37 DHRS11 HSD17B6
9 11.31 EHHADH HADH
10
Show member pathways
11.28 EHHADH HADH HADHB SCP2
11 11.27 ACOX1 CAT EHHADH HSD17B4 SCP2
12
Show member pathways
11.18 ACOX1 EHHADH HSD17B4 SCP2
13
Show member pathways
11.1 EHHADH HADH
14 10.93 EHHADH SCP2
15
Show member pathways
10.82 ACOX1 EHHADH HADH HADHB HSD17B4 SCP2
16 10.55 EHHADH 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 intracellular membrane-bounded organelle GO:0043231 9.56 ACOX1 CAT HSD17B6 SCP2
2 peroxisome GO:0005777 9.35 ACOX1 CAT EHHADH HSD17B4 SCP2
3 peroxisomal membrane GO:0005778 9.33 ACOX1 CAT HSD17B4
4 peroxisomal matrix GO:0005782 9.02 ACOX1 CAT EHHADH HSD17B4 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 9.87 ACOX1 CAT DHRS11 EHHADH HADH HSD17B4
2 lipid metabolic process GO:0006629 9.8 ACOX1 DHRS11 EHHADH HADH HADHB HSD17B4
3 fatty acid metabolic process GO:0006631 9.77 ACOX1 EHHADH HADH HADHB HSD17B4
4 steroid biosynthetic process GO:0006694 9.63 DHRS11 SCP2 SCP2D1
5 alpha-linolenic acid metabolic process GO:0036109 9.58 ACOX1 HSD17B4 SCP2
6 protein targeting to peroxisome GO:0006625 9.55 ACOX1 CAT EHHADH HSD17B4 SCP2
7 response to insulin GO:0032868 9.54 CAT HADH
8 phospholipid transport GO:0015914 9.52 SCP2 SCP2D1
9 response to activity GO:0014823 9.51 CAT HADH
10 bile acid biosynthetic process GO:0006699 9.49 HSD17B4 SCP2
11 very long-chain fatty acid metabolic process GO:0000038 9.48 ACOX1 HSD17B4
12 positive regulation of intracellular cholesterol transport GO:0032385 9.43 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 9.02 ACOX1 EHHADH HADH HADHB HSD17B4

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.65 ACOX1 CAT EHHADH HSD17B4 SCP2
2 catalytic activity GO:0003824 9.61 HADHB HSD17B6 SCP2
3 oxidoreductase activity GO:0016491 9.5 ACOX1 CAT DHRS11 EHHADH HADH HSD17B4
4 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.4 HADHB SCP2
5 estradiol 17-beta-dehydrogenase activity GO:0004303 9.37 DHRS11 HSD17B6
6 long-chain-enoyl-CoA hydratase activity GO:0016508 9.33 EHHADH HADHB HSD17B4
7 enoyl-CoA hydratase activity GO:0004300 9.32 EHHADH HADHB
8 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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