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 54 12 50 25 71 13 52 14
Peroxisomal Bifunctional Enzyme Deficiency 50 24 25
Bifunctional Peroxisomal Enzyme Deficiency 25 29 69
17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency 50 25
Pseudo-Zellweger Syndrome 25 69
Pbfe Deficiency 50 25
Dbp Deficiency 50 25
Bifunctional Enzyme Deficiency 50
Zellweger-Like Syndrome 25
Dbpd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for D-Bifunctional Protein Deficiency

OMIM : 54
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 peroxisomal bifunctional enzyme deficiency, is related to zellweger-like syndrome without peroxisomal anomalies and peroxisomal acyl-coa oxidase deficiency, and has symptoms including failure to thrive, visual impairment and nystagmus. An important gene associated with D-Bifunctional Protein Deficiency is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. 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 growth/size/body region and homeostasis/metabolism

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 : 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.

NIH Rare Diseases : 50 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. last updated: 12/6/2016

UniProtKB/Swiss-Prot : 71 D-bifunctional protein deficiency: Disorder of peroxisomal fatty acid beta-oxidation.

Wikipedia : 72 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 28)
id Related Disease Score Top Affiliating Genes
1 zellweger-like syndrome without peroxisomal anomalies 12.1
2 peroxisomal acyl-coa oxidase deficiency 11.2
3 alpha-methylacetoacetic aciduria 11.1
4 fgb-related congenital afibrinogenemia 10.2 HSD17B4 SCP2
5 doyne honeycomb degeneration of retina 10.1 EHHADH HADHB
6 bile acid synthesis defect, congenital, 4 10.1 ACOX1 HSD17B4 SCP2
7 retinitis 9.9
8 glottis neoplasm 9.9 HADHB PEX5
9 polyhydramnios 9.9
10 neuropathy 9.9
11 zellweger syndrome 9.9
12 hypotonia 9.9
13 deafness, dystonia, and cerebral hypomyelination 9.8 ACOX1 EHHADH PEX5
14 leishmaniasis 9.8 HADHB HSD17B4 PEX5
15 perrault syndrome 9.7
16 ataxia 9.7
17 pfeiffer kapferer syndrome 9.6 CAT HSD17B4 PEX5
18 miles-carpenter syndrome 9.6 HADH HSD17B6
19 heimler syndrome 1 9.6 CAT HSD17B4 PEX5
20 abca12-related autosomal recessive congenital ichthyosis 9.5 EHHADH HADH HADHB
21 oocyte maturation defect 2 9.5 CAT PEX5 SCP2
22 cystinosis, ocular nonnephropathic 9.5 HADH HADHB
23 rhizomelic chondrodysplasia punctata, type 2 9.4 CAT PEX5
24 pfeiffer mayer syndrome 9.2 CAT HADHB HSD17B4 PEX5
25 peroxisome biogenesis disorder 9b 9.1 ACOX1 HADHB HSD17B4 PEX5 SCP2
26 congenital disorder of glycosylation, type iig 9.0 ACOX1 CAT HSD17B4 PEX5 SCP2
27 neonatal ovarian cyst 8.9 ACOX1 CAT EHHADH PEX5 SCP2
28 perrault syndrome 1 6.4 ACOX1 CAT EHHADH HADH HADHB HSD17B4

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:

54

Head And Neck- Mouth:
high-arched palate

Head And Neck- Face:
high forehead
micrognathia
retrognathia
frontal bossing
long philtrum
more
Abdomen- Gastroin testinal:
poor feeding

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

Skeletal- Feet:
talipes equinovarus
hammertoes

Muscle Soft Tissue:
decreased muscle mass

Chest- External Features:
funnel chest
long, small thorax

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

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:
nystagmus
strabismus
epicanthal folds
hypertelorism
upslanting palpebral fissures
more
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

Skeletal:
calcific stippling
generalized osteopenia
delayed bone maturation

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

Abdomen- Liver:
abnormal liver function (26%)
hepatomegaly (43%)
histology shows normal numbers of peroxisomes (84%)
abnormal peroxisomes (53%)
absence of peroxisomes (16%)
more
Skeletal- Hands:
claw hands

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 55)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 visual impairment 32 HP:0000505
3 nystagmus 32 HP:0000639
4 strabismus 32 HP:0000486
5 ventriculomegaly 32 HP:0002119
6 hepatomegaly 32 HP:0002240
7 seizures 32 HP:0001250
8 high forehead 32 HP:0000348
9 low-set ears 32 HP:0000369
10 micrognathia 32 HP:0000347
11 depressed nasal bridge 32 HP:0005280
12 hypertelorism 32 HP:0000316
13 large fontanelles 32 HP:0000239
14 polyhydramnios 32 HP:0001561
15 polymicrogyria 32 HP:0002126
16 retrognathia 32 HP:0000278
17 frontal bossing 32 HP:0002007
18 global developmental delay 32 HP:0001263
19 neonatal hypotonia 32 HP:0001319
20 talipes equinovarus 32 HP:0001762
21 macrocephaly 32 HP:0000256
22 hypoplasia of the corpus callosum 32 HP:0002079
23 long philtrum 32 HP:0000343
24 pectus excavatum 32 HP:0000767
25 osteopenia 32 HP:0000938
26 hepatic steatosis 32 HP:0001397
27 cerebral hypoplasia 32 very rare (1%) HP:0006872
28 gliosis 32 HP:0002171
29 high palate 32 HP:0000218
30 calcific stippling 32 HP:0002832
31 cholestasis 32 HP:0001396
32 dolichocephaly 32 HP:0000268
33 epicanthus 32 HP:0000286
34 feeding difficulties in infancy 32 HP:0008872
35 cortical dysplasia 32 HP:0002539
36 delayed skeletal maturation 32 HP:0002750
37 decreased nerve conduction velocity 32 very rare (1%) HP:0000762
38 visual loss 32 HP:0000572
39 bile duct proliferation 32 HP:0001408
40 decreased muscle mass 32 HP:0003199
41 fetal ascites 32 HP:0001791
42 thoracic hypoplasia 32 HP:0005257
43 split hand 32 HP:0001171
44 corpus callosum atrophy 32 HP:0007371
45 elevated hepatic transaminases 32 HP:0002910
46 renal cyst 32 HP:0000107
47 primary adrenal insufficiency 32 HP:0008207
48 abnormal facial shape 32 HP:0001999
49 aplasia/hypoplasia of the cerebellum 32 HP:0007360
50 upslanted palpebral fissure 32 HP:0000582

MGI Mouse Phenotypes related to D-Bifunctional Protein Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 PEX5 SCP2 ACOX1 EHHADH HADH HADHB
2 homeostasis/metabolism MP:0005376 9.56 ACOX1 CAT EHHADH HADH HADHB HSD17B4
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 28)
id 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 Phase 2 52-24-4 5453
8 Tocopherol Approved, Nutraceutical Phase 2
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 Immunosuppressive Agents Phase 2
15 N-monoacetylcystine Phase 2
16 Thioctic Acid Phase 2
17 Tocopherols Phase 2
18 Tocotrienols Phase 2
19 Vitamins Phase 2
20 Alpha-lipoic Acid Nutraceutical Phase 2
21 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
22
chenodeoxycholic acid Approved 474-25-9 10133
23
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
24 Bile Acids and Salts
25 Cathartics
26 Cholic Acids
27 Gastrointestinal Agents
28 Laxatives

Interventional clinical trials:


id 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 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:

id Genetic test Affiliating Genes
1 Bifunctional Peroxisomal Enzyme Deficiency 29
2 Peroxisomal Bifunctional Enzyme Deficiency 24 HSD17B4

Anatomical Context for D-Bifunctional Protein Deficiency

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

39
Liver, Kidney, Eye, Bone, Cortex, Cerebellum, Adrenal Cortex

Publications for D-Bifunctional Protein Deficiency

Articles related to D-Bifunctional Protein Deficiency:

(show all 25)
id 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
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. ( 25882080 )
2015
4
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care. ( 26733776 )
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
Specific combination of compound heterozygous mutations in 17I^-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. ( 23181892 )
2012
9
Mild case of D-bifunctional protein deficiency associated with novel gene mutations. ( 22507161 )
2012
10
A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. ( 21851493 )
2011
11
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging. ( 20848092 )
2010
12
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. ( 20949532 )
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:

71
id 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 all 28)
id 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.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic GRCh37 Chromosome 5, 118835012: 118835248
3 HSD17B4 NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 GRCh37 Chromosome 5, 118788316: 118788316
4 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
5 HSD17B4 NM_000414.3(HSD17B4): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs25640 GRCh37 Chromosome 5, 118811533: 118811533
6 HSD17B4 HSD17B4, 138-BP DEL deletion Pathogenic
7 HSD17B4 HSD17B4, 2-BP DEL, 422AG deletion Pathogenic
8 HSD17B4 NM_000414.3(HSD17B4): c.302+1_302+4delGTGA deletion Pathogenic rs863225438 GRCh37 Chromosome 5, 118811423: 118811426
9 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh38 Chromosome 5, 119452578: 119452578
10 HSD17B4 NM_000414.3(HSD17B4): c.1696_1702delCCAGTATinsAA (p.Pro566Lysfs) indel Pathogenic rs886043708 GRCh37 Chromosome 5, 118862843: 118862849
11 HSD17B4 NM_000414.3(HSD17B4): c.67C> T (p.Arg23Ter) single nucleotide variant Likely pathogenic rs765702241 GRCh38 Chromosome 5, 119456323: 119456323
12 HSD17B4 NM_000414.3(HSD17B4): c.296dupA (p.Asn99Lysfs) duplication Likely pathogenic rs1057516672 GRCh37 Chromosome 5, 118811416: 118811416
13 HSD17B4 NM_000414.3(HSD17B4): c.349+1G> T single nucleotide variant Likely pathogenic rs1057516958 GRCh38 Chromosome 5, 119475871: 119475871
14 HSD17B4 NM_000414.3(HSD17B4): c.607_610delACAG (p.Thr203Leufs) deletion Likely pathogenic rs1057516310 GRCh38 Chromosome 5, 119479006: 119479009
15 HSD17B4 NM_000414.3(HSD17B4): c.709_712delTTTG (p.Phe237Argfs) deletion Likely pathogenic rs1057516750 GRCh37 Chromosome 5, 118824973: 118824976
16 HSD17B4 NM_000414.3(HSD17B4): c.742C> T (p.Arg248Cys) single nucleotide variant Likely pathogenic rs969485098 GRCh37 Chromosome 5, 118829515: 118829515
17 HSD17B4 NM_000414.3(HSD17B4): c.872C> G (p.Ser291Ter) single nucleotide variant Likely pathogenic rs1057516269 GRCh38 Chromosome 5, 119496546: 119496546
18 HSD17B4 NM_000414.3(HSD17B4): c.973-2A> C single nucleotide variant Likely pathogenic rs1057517118 GRCh37 Chromosome 5, 118835010: 118835010
19 HSD17B4 NM_000414.3(HSD17B4): c.1268T> G (p.Leu423Ter) single nucleotide variant Likely pathogenic rs1057516735 GRCh37 Chromosome 5, 118842519: 118842519
20 HSD17B4 NM_000414.3(HSD17B4): c.1300_1303delGATA (p.Asp434Lysfs) deletion Likely pathogenic rs1057517045 GRCh38 Chromosome 5, 119506856: 119506859
21 HSD17B4 NM_000414.3(HSD17B4): c.1369A> G (p.Asn457Asp) single nucleotide variant Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
22 HSD17B4 NM_000414.3(HSD17B4): c.1438-2A> C single nucleotide variant Likely pathogenic rs1057516273 GRCh37 Chromosome 5, 118850674: 118850674
23 HSD17B4 NM_000414.3(HSD17B4): c.1440_1441delAG (p.Ala481Cysfs) deletion Likely pathogenic rs1057516859 GRCh38 Chromosome 5, 119514983: 119514984
24 HSD17B4 NM_000414.3(HSD17B4): c.1574-1G> A single nucleotide variant Likely pathogenic rs755412738 GRCh38 Chromosome 5, 119525916: 119525916
25 HSD17B4 NM_000414.3(HSD17B4): c.1630_1633dupGTGT (p.Leu545Cysfs) duplication Likely pathogenic rs1057517323 GRCh37 Chromosome 5, 118861668: 118861671
26 HSD17B4 NM_000414.3(HSD17B4): c.1717_1718delCT (p.Leu573Thrfs) deletion Likely pathogenic rs1057516936 GRCh37 Chromosome 5, 118862864: 118862865
27 HSD17B4 NM_000414.3(HSD17B4): c.1907delA (p.Lys636Argfs) deletion Likely pathogenic rs1057516312 GRCh37 Chromosome 5, 118867013: 118867013
28 HSD17B4 NM_000414.3(HSD17B4): c.1936_1940delGTAAA (p.Val646Cysfs) deletion Likely pathogenic rs1057517152 GRCh38 Chromosome 5, 119531347: 119531351

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 GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 ACOX1 CAT EHHADH HADH HADHB HSD17B4
2 12.18 CAT HSD17B6 PEX5
3
Show member pathways
11.91 CAT EHHADH HADH
4
Show member pathways
11.71 EHHADH HADH HADHB
5
Show member pathways
11.59 ACOX1 EHHADH HADH HADHB
6 11.44 ACOX1 EHHADH SCP2
7
Show member pathways
11.38 HADH HADHB
8 11.35 ACOX1 CAT EHHADH HSD17B4 PEX5 SCP2
9 11.32 EHHADH HADH
10
Show member pathways
11.28 EHHADH HADH HADHB SCP2
11
Show member pathways
11.23 ACOX1 HADH HADHB
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:

id 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)
id 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 9.76 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 response to activity GO:0014823 9.51 CAT HADH
8 phospholipid transport GO:0015914 9.49 SCP2 SCP2D1
9 bile acid biosynthetic process GO:0006699 9.48 HSD17B4 SCP2
10 peroxisome organization GO:0007031 9.43 PEX5 SCP2
11 alpha-linolenic acid metabolic process GO:0036109 9.43 ACOX1 HSD17B4 SCP2
12 very long-chain fatty acid metabolic process GO:0000038 9.4 ACOX1 HSD17B4
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:

id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.61 HADHB HSD17B6 SCP2
2 receptor binding GO:0005102 9.55 ACOX1 CAT EHHADH HSD17B4 SCP2
3 oxidoreductase activity GO:0016491 9.43 ACOX1 CAT EHHADH HADH HSD17B4 HSD17B6
4 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.4 HADHB SCP2
5 sterol transporter activity GO:0015248 9.37 SCP2 SCP2D1
6 enoyl-CoA hydratase activity GO:0004300 9.32 EHHADH HADHB
7 long-chain-enoyl-CoA hydratase activity GO:0016508 9.26 EHHADH HSD17B4
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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