HLCS DEFICIENCY
MCID: HLC001
MIFTS: 56

Holocarboxylase Synthetase Deficiency (HLCS DEFICIENCY) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Holocarboxylase Synthetase Deficiency

Aliases & Descriptions for Holocarboxylase Synthetase Deficiency:

Name: Holocarboxylase Synthetase Deficiency 54 12 50 24 25 56 66 29 13 52 42 14 69
Early-Onset Multiple Carboxylase Deficiency 50 24 56 66
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency 24 25
Early-Onset Combined Carboxylase Deficiency 24 25
Infantile Multiple Carboxylase Deficiency 24 25
Neonatal Multiple Carboxylase Deficiency 50 56
Hlcs Deficiency 25 66
Biotin-Responsive Multiple Carboxylase Deficiency 66
Multiple Carboxylase Deficiency - Neonatal Onset 12
Multiple Carboxylase Deficiency, Neonatal Form 25
Biotin Holocarboxylase Synthetase Deficiency 24
Biotin- Ligase Deficiency 12
Holocarboxylase Synthetase 13
Biotin-Responsive Mcd 66
Mcd Neonatal Form 66
Early-Onset Mcd 66

Characteristics:

Orphanet epidemiological data:

56
holocarboxylase synthetase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

HPO:

32
holocarboxylase synthetase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 253270
Disease Ontology 12 DOID:859
ICD10 33 D81.818
MeSH 42 D028922
Orphanet 56 ORPHA79242
MESH via Orphanet 43 D028922
UMLS via Orphanet 70 C0268581
ICD10 via Orphanet 34 E53.8
MedGen 40 C0268581
UMLS 69 C0268581

Summaries for Holocarboxylase Synthetase Deficiency

OMIM : 54 Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by... (253270) more...

MalaCards based summary : Holocarboxylase Synthetase Deficiency, also known as early-onset multiple carboxylase deficiency, is related to multiple carboxylase deficiency and biotin deficiency, and has symptoms including ataxia, seizures and respiratory distress. An important gene associated with Holocarboxylase Synthetase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Biotin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are homeostasis/metabolism and liver/biliary system

UniProtKB/Swiss-Prot : 66 Holocarboxylase synthetase deficiency: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin.

Genetics Home Reference : 25 Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

Disease Ontology : 12 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

Wikipedia : 71 Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to... more...

Related Diseases for Holocarboxylase Synthetase Deficiency

Diseases related to Holocarboxylase Synthetase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
id Related Disease Score Top Affiliating Genes
1 multiple carboxylase deficiency 11.4
2 biotin deficiency 11.1
3 chudley-mccullough syndrome 10.2 HLCS PC
4 first-degree atrioventricular block 10.2 BTD HLCS PC
5 carnitine acetyltransferase deficiency 10.1 PC SLC25A13
6 mitochondrial phosphate carrier deficiency 10.1 ACADM SLC25A13
7 anuria 10.1 AGL BTD HLCS
8 muscular dystrophy, limb-girdle, type ic 10.1 ACADM BTD HLCS
9 pain disorder 10.0 ACADM BTD HLCS
10 malignant cardiac peripheral nerve sheath neoplasm 10.0 ACADM PC
11 myocardium cancer 10.0 BTD PTS
12 deafness, autosomal dominant 52 10.0 ACADVL SLC25A20
13 hyperostosis 10.0 MTHFR PC
14 gum cancer 10.0 ACADM BTD HLCS PC
15 leopard syndrome 1 9.9 ACADM BTD PTS
16 waldenstrom macroglobulinemia 9.9 ACADVL SLC25A13
17 hyperekplexia 2, autosomal recessive 9.9 ACADM MTHFR PC
18 vitamin metabolic disorder 9.9 ACADM ACADVL
19 encephalopathy, acute, infection-induced, 4 9.9 ACADL ACADVL SLC25A20
20 cerebral palsy 9.9
21 glycogen storage disease 9.9
22 organic acidemia 9.9
23 ichthyosis 9.9
24 cerebritis 9.9
25 lactic acidosis 9.9
26 biotin-responsive multiple carboxylase deficiencies 9.9
27 van maldergem syndrome 9.9 ACADL ACADVL SLC25A20
28 retinitis pigmentosa 4, autosomal dominant or recessive 9.8 ACADM ACADVL HLCS
29 obesity, morbid, due to leptin receptor deficiency 9.8 ACADM ACADVL BTD
30 maple syrup urine disease, mild variant 9.8 ACADM ACADVL HADH
31 acute insulin response 9.7 ACADL ACADM ACADVL BTD
32 congenital intrinsic factor deficiency 9.7 ACADVL MTHFR
33 cystinosis, ocular nonnephropathic 9.6 ACADL ACADVL HADH SLC25A13 SLC25A20
34 fibular hypoplasia 9.6 ACADL ACADM ACADVL SLC25A13 SLC25A20
35 atrial fibrillation, familial, 4 8.5 ACADL ACADM ACADVL AGL BTD HADH

Graphical network of the top 20 diseases related to Holocarboxylase Synthetase Deficiency:



Diseases related to Holocarboxylase Synthetase Deficiency

Symptoms & Phenotypes for Holocarboxylase Synthetase Deficiency

Symptoms by clinical synopsis from OMIM:

253270

Clinical features from OMIM:

253270

Human phenotypes related to Holocarboxylase Synthetase Deficiency:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 respiratory distress 56 32 Frequent (79-30%) HP:0002098
4 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
5 lethargy 56 32 Occasional (29-5%) HP:0001254
6 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
7 irritability 56 32 Very frequent (99-80%) HP:0000737
8 weight loss 56 32 Very frequent (99-80%) HP:0001824
9 growth delay 56 32 Very frequent (99-80%) HP:0001510
10 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
11 anorexia 56 32 Very frequent (99-80%) HP:0002039
12 coma 56 32 Occasional (29-5%) HP:0001259
13 alopecia 56 32 Occasional (29-5%) HP:0001596
14 hyperammonemia 56 32 Frequent (79-30%) HP:0001987
15 tachypnea 56 32 Frequent (79-30%) HP:0002789
16 keratoconjunctivitis 56 32 Very frequent (99-80%) HP:0001096
17 organic aciduria 56 32 Frequent (79-30%) HP:0001992
18 perioral eczema 56 32 Very frequent (99-80%) HP:0011127
19 vomiting 32 HP:0002013
20 global developmental delay 32 HP:0001263
21 hypertonia 32 HP:0001276
22 feeding difficulties in infancy 32 HP:0008872
23 skin rash 32 HP:0000988
24 eczema 56 Occasional (29-5%)
25 metabolic acidosis 32 HP:0001942
26 hyperventilation 32 HP:0002883

UMLS symptoms related to Holocarboxylase Synthetase Deficiency:


exanthema, lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Holocarboxylase Synthetase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 PC PTS SLC25A13 SLC25A20 ACADL ACADM
2 liver/biliary system MP:0005370 9.35 ACADL ACADM ACADVL AGL SLC25A13
3 mortality/aging MP:0010768 9.28 ACADL ACADM ACADVL AGL MTHFR PC

Drugs & Therapeutics for Holocarboxylase Synthetase Deficiency

Drugs for Holocarboxylase Synthetase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Biotin Approved, Nutraceutical 58-85-5 171548
2
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3 Trace Elements
4 Vitamin B Complex
5 Vitamins
6 Micronutrients
7 Folate Nutraceutical
8 Vitamin B7 Nutraceutical
9 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Biotin Status in Pregnancy Completed NCT00894920
2 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191

Search NIH Clinical Center for Holocarboxylase Synthetase Deficiency

Cochrane evidence based reviews: holocarboxylase synthetase deficiency

Genetic Tests for Holocarboxylase Synthetase Deficiency

Genetic tests related to Holocarboxylase Synthetase Deficiency:

id Genetic test Affiliating Genes
1 Holocarboxylase Synthetase Deficiency 29 24 HLCS

Anatomical Context for Holocarboxylase Synthetase Deficiency

MalaCards organs/tissues related to Holocarboxylase Synthetase Deficiency:

39
Skin

Publications for Holocarboxylase Synthetase Deficiency

Articles related to Holocarboxylase Synthetase Deficiency:

(show all 49)
id Title Authors Year
1
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. ( 26754537 )
2016
2
Holocarboxylase synthetase deficiency pre and post newborn screening. ( 27114915 )
2016
3
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. ( 27518780 )
2016
4
Severe neonatal holocarboxylase synthetase deficiency in west african siblings. ( 25690727 )
2015
5
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. ( 24085707 )
2013
6
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. ( 21894551 )
2012
7
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient. ( 21874615 )
2012
8
Holocarboxylase synthetase deficiency: novel clinical and molecular findings. ( 20095979 )
2010
9
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. ( 19201116 )
2009
10
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. ( 19357990 )
2009
11
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency. ( 18442489 )
2008
12
Management of a patient with holocarboxylase synthetase deficiency. ( 18974016 )
2008
13
Susceptibility to heat stress and aberrant gene expression patterns in holocarboxylase synthetase-deficient Drosophila melanogaster are caused by decreased biotinylation of histones, not of carboxylases. ( 17374649 )
2007
14
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. ( 17417720 )
2007
15
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]. ( 16494802 )
2006
16
Holocarboxylase synthetase deficiency presenting as ichthyosis. ( 16650223 )
2006
17
Holocarboxylase synthetase deficiency: report of one case. ( 17407983 )
2006
18
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. ( 16027709 )
2005
19
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. ( 16231399 )
2005
20
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. ( 12633764 )
2003
21
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. ( 12855220 )
2003
22
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. ( 12124727 )
2002
23
[Holocarboxylase synthetase deficiency]. ( 11462701 )
2001
24
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. ( 11735028 )
2001
25
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. ( 10653324 )
2000
26
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation. ( 10770035 )
2000
27
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis. ( 11196112 )
2000
28
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations. ( 11185745 )
2000
29
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency. ( 10590022 )
1999
30
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. ( 10190325 )
1999
31
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy. ( 10234606 )
1999
32
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. ( 10215065 )
1999
33
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. ( 10437643 )
1999
34
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. ( 9870216 )
1998
35
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. ( 9686819 )
1998
36
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. ( 9645047 )
1998
37
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency. ( 9758715 )
1998
38
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency. ( 9183268 )
1997
39
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate. ( 8814349 )
1996
40
Late-onset holocarboxylase synthetase deficiency. ( 8982946 )
1996
41
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. ( 8541348 )
1995
42
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. ( 8006369 )
1994
43
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. ( 8319716 )
1993
44
A new case of holocarboxylase synthetase deficiency. ( 2515377 )
1989
45
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. ( 2515372 )
1989
46
Biotin holocarboxylase synthetase deficiency. ( 3860175 )
1985
47
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. ( 6811711 )
1982
48
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency. ( 7226522 )
1981
49
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. ( 7365583 )
1980

Variations for Holocarboxylase Synthetase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Holocarboxylase Synthetase Deficiency:

66 (show all 23)
id Symbol AA change Variation ID SNP ID
1 HLCS p.Leu237Pro VAR_005084 rs119103227
2 HLCS p.Val333Glu VAR_009196
3 HLCS p.Thr462Ile VAR_009197
4 HLCS p.Val550Met VAR_009198 rs119103231
5 HLCS p.Asp571Asn VAR_009199 rs119103228
6 HLCS p.Gly581Ser VAR_009200 rs119103230
7 HLCS p.Arg508Trp VAR_013009 rs119103229
8 HLCS p.Leu216Arg VAR_021218 rs28934602
9 HLCS p.Asn511Lys VAR_021219
10 HLCS p.Gly582Arg VAR_021220 rs376899782
11 HLCS p.Arg183Pro VAR_046507
12 HLCS p.Arg360Ser VAR_046508
13 HLCS p.Val363Asp VAR_046509 rs769499327
14 HLCS p.Tyr456Cys VAR_046510 rs781603756
15 HLCS p.Leu470Ser VAR_046511
16 HLCS p.Gly518Glu VAR_046512
17 HLCS p.Val547Gly VAR_046513
18 HLCS p.Asp615Tyr VAR_046514
19 HLCS p.Asp634Asn VAR_046515 rs149399432
20 HLCS p.Asp634Tyr VAR_046516
21 HLCS p.Asp715Gly VAR_046517
22 HLCS p.Gly241Trp VAR_073074
23 HLCS p.Gly505Arg VAR_073075

ClinVar genetic disease variations for Holocarboxylase Synthetase Deficiency:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 HLCS HLCS, 1-BP DEL, 780G deletion Pathogenic
2 HLCS NM_000411.6(HLCS): c.710T> C (p.Leu237Pro) single nucleotide variant Pathogenic/Likely pathogenic rs119103227 GRCh37 Chromosome 21, 38309035: 38309035
3 HLCS NM_000411.6(HLCS): c.1711G> A (p.Asp571Asn) single nucleotide variant Pathogenic rs119103228 GRCh37 Chromosome 21, 38132112: 38132112
4 HLCS NM_000411.6(HLCS): c.1522C> T (p.Arg508Trp) single nucleotide variant Pathogenic rs119103229 GRCh37 Chromosome 21, 38137471: 38137471
5 HLCS NM_000411.6(HLCS): c.1741G> A (p.Gly581Ser) single nucleotide variant Pathogenic rs119103230 GRCh37 Chromosome 21, 38132082: 38132082
6 HLCS NM_000411.6(HLCS): c.1648G> A (p.Val550Met) single nucleotide variant Pathogenic rs119103231 GRCh37 Chromosome 21, 38137345: 38137345
7 HLCS NM_000411.6(HLCS): c.1519+5G> A single nucleotide variant Pathogenic rs753887925 GRCh38 Chromosome 21, 36767213: 36767213
8 HLCS NM_000411.6(HLCS): c.655dupA (p.Ile219Asnfs) duplication Pathogenic rs773102942 GRCh37 Chromosome 21, 38309090: 38309090
9 HLCS NM_000411.6(HLCS): c.647T> G (p.Leu216Arg) single nucleotide variant Pathogenic rs28934602 GRCh37 Chromosome 21, 38309098: 38309098
10 HLCS NM_000411.6(HLCS): c.1624C> T (p.Gln542Ter) single nucleotide variant Pathogenic rs794727957 GRCh37 Chromosome 21, 38137369: 38137369
11 HLCS NM_000411.6(HLCS): c.782delG (p.Gly261Valfs) deletion Pathogenic rs771944310 GRCh38 Chromosome 21, 36936663: 36936663
12 HLCS NM_000411.6(HLCS): c.722G> C (p.Gly241Ala) single nucleotide variant Likely pathogenic rs1057516035 GRCh37 Chromosome 21, 38309023: 38309023
13 HLCS NM_000411.6(HLCS): c.1533dupT (p.Val512Cysfs) duplication Likely pathogenic rs767533946 GRCh37 Chromosome 21, 38137460: 38137460
14 HLCS NM_000411.6(HLCS): c.416T> A (p.Leu139Ter) single nucleotide variant Likely pathogenic rs144572349 GRCh38 Chromosome 21, 36937029: 36937029

Expression for Holocarboxylase Synthetase Deficiency

Search GEO for disease gene expression data for Holocarboxylase Synthetase Deficiency.

Pathways for Holocarboxylase Synthetase Deficiency

Pathways related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 ACADL ACADM ACADVL AGL BTD HADH
2
Show member pathways
12.57 ACADL ACADM ACADVL HADH SLC25A20
3
Show member pathways
12.39 BTD HLCS MTHFR PC
4
Show member pathways
12.01 ACADM MTHFR PC
5 11.59 ACADM HADH PC
6
Show member pathways
11.52 ACADL ACADM ACADVL HADH
7
Show member pathways
11.28 ACADL ACADM ACADVL HADH
8
Show member pathways
11.25 ACADL HADH
9 11.19 ACADM ACADVL HADH
10 10.84 HADH PC
11
Show member pathways
10.75 ACADL ACADM ACADVL HADH SLC25A20
12
Show member pathways
10.43 ACADM HADH
13 9.8 BTD HLCS

GO Terms for Holocarboxylase Synthetase Deficiency

Cellular components related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 ACADVL HADH SLC25A13 SLC25A20
2 mitochondrial matrix GO:0005759 9.43 ACADL ACADM ACADVL BTD HADH PC
3 mitochondrion GO:0005739 9.28 ACADL ACADM ACADVL HADH HLCS PC

Biological processes related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.89 ACADL ACADM ACADVL HADH MTHFR
2 lipid metabolic process GO:0006629 9.83 ACADL ACADM ACADVL HADH PC
3 fatty acid metabolic process GO:0006631 9.62 ACADL ACADM ACADVL HADH
4 gluconeogenesis GO:0006094 9.56 PC SLC25A13
5 cellular amino acid metabolic process GO:0006520 9.55 MTHFR PTS
6 response to cold GO:0009409 9.54 ACADM ACADVL
7 glycogen biosynthetic process GO:0005978 9.52 ACADM AGL
8 temperature homeostasis GO:0001659 9.51 ACADL ACADVL
9 negative regulation of fatty acid biosynthetic process GO:0045717 9.48 ACADL ACADVL
10 regulation of cholesterol metabolic process GO:0090181 9.46 ACADL ACADVL
11 fatty acid beta-oxidation GO:0006635 9.46 ACADL ACADM ACADVL HADH
12 biotin metabolic process GO:0006768 9.43 BTD HLCS PC
13 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADL ACADVL
14 carnitine metabolic process, CoA-linked GO:0019254 9.37 ACADL ACADM
15 metabolic process GO:0008152 9.17 ACADL ACADM ACADVL AGL HLCS MTHFR
16 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.13 ACADL ACADM ACADVL

Molecular functions related to Holocarboxylase Synthetase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.77 ACADL ACADM ACADVL HADH MTHFR
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.33 ACADL ACADM ACADVL
3 biotin binding GO:0009374 9.32 HLCS PC
4 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.26 ACADL ACADVL
5 acyl-CoA dehydrogenase activity GO:0003995 9.13 ACADL ACADM ACADVL
6 flavin adenine dinucleotide binding GO:0050660 8.92 ACADL ACADM ACADVL MTHFR

Sources for Holocarboxylase Synthetase 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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