MCID: HLC001
MIFTS: 57

Holocarboxylase Synthetase Deficiency malady

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

Aliases & Classifications for Holocarboxylase Synthetase Deficiency

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Holocarboxylase Synthetase Deficiency:

Name: Holocarboxylase Synthetase Deficiency 51 11 47 24 25 53 69 26 12 49 38 13 67
Early-Onset Multiple Carboxylase Deficiency 47 24 53 69
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 47 53
Hlcs Deficiency 25 69
Biotin-Responsive Multiple Carboxylase Deficiency 69
 
Multiple Carboxylase Deficiency - Neonatal Onset 11
Multiple Carboxylase Deficiency, Neonatal Form 25
Biotin Holocarboxylase Synthetase Deficiency 24
Biotin- Ligase Deficiency 11
Holocarboxylase Synthetase 12
Biotin-Responsive Mcd 69
Mcd Neonatal Form 69
Early-Onset Mcd 69

Characteristics:

Orphanet epidemiological data:

53
holocarboxylase synthetase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

63
holocarboxylase synthetase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 253270
Disease Ontology11 DOID:859
ICD1029 D81.818
MeSH38 D028922
Orphanet53 ORPHA79242
MESH via Orphanet39 D028922
UMLS via Orphanet68 C0268581
ICD10 via Orphanet30 E53.8
MedGen36 C0268581

Summaries for Holocarboxylase Synthetase Deficiency

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OMIM:51 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 behavioral abnormality, seizures and muscular hypotonia. An important gene associated with Holocarboxylase Synthetase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways are Biotin metabolism and Fatty Acid Biosynthesis (WikiPathways). Affiliated tissues include skin and eye, and related mouse phenotypes are liver/biliary system and muscle.

UniProtKB/Swiss-Prot:69 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:11 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

Wikipedia:70 Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to... more...

Related Diseases for Holocarboxylase Synthetase Deficiency

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1multiple carboxylase deficiency11.4
2biotin deficiency11.1
3chromosome 4q32.1-q32.2 triplication syndrome10.3ACADM, ACADVL
4lichen disease10.2BTD, HLCS, PC
5atrioventricular block10.2BTD, HLCS, PC
6was-related disorders10.1ACADM, ACADVL
7biotinidase deficiency10.0ACADM, BTD, HLCS
8atrophic glossitis10.0ACADM, PC
9propionicacidemia10.0ACADL, ACADM, HLCS
10wagr syndrome9.9ACADVL, SLC25A13
11methylmalonic aciduria and homocystinuria type cblg9.9ACADVL, MTHFR
12mitochondrial complex iii deficiency, nuclear type 49.9ACADM, ACADVL, SLC25A20
13cerebral palsy9.9
14glycogen storage disease9.9
15organic acidemia9.9
16cerebritis9.9
17lactic acidosis9.9
18biotin-responsive multiple carboxylase deficiencies9.9
19leukemia, chronic lymphocytic 39.9ACADVL, PC, SLC25A13
20hyperinsulinemic hypoglycemia, familial, 49.9ACADM, ACADVL, HADH
21kidney papillary necrosis9.9AGL, BTD, HLCS
22maple syrup urine disease, type ii9.8ACADM, ACADVL, BTD
23hepatitis d9.8MTHFR, PC
24acyl-coa dehydrogenase, medium chain, deficiency of9.7ACADL, ACADM, ACADVL, BTD
25noonan syndrome 19.5ACADM, BTD, PTS
26fatal infantile encephalocardiomyopathy9.4ACADM, ACADVL, HADH, SLC25A13
27fga-related congenital afibrinogenemia9.3ACADL, ACADM, ACADVL, SLC25A13, SLC25A20
2818p deletion syndrome8.8ACADL, ACADM, ACADVL, AGL, HADH, SLC25A20
29atrial fibrillation, familial, 46.5ACADL, ACADM, ACADVL, AGL, BTD, HADH

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



Diseases related to holocarboxylase synthetase deficiency

Symptoms for Holocarboxylase Synthetase Deficiency

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Symptoms by clinical synopsis from OMIM:

253270

Clinical features from OMIM:

253270

Human phenotypes related to Holocarboxylase Synthetase Deficiency:

 63 53 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality63 hallmark (90%) HP:0000708
2 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
4 weight loss63 53 hallmark (90%) Very frequent (99-80%) HP:0001824
5 nausea and vomiting63 53 hallmark (90%) Very frequent (99-80%) HP:0002017
6 inflammatory abnormality of the eye63 hallmark (90%) HP:0100533
7 cheilitis63 hallmark (90%) HP:0100825
8 hyperammonemia63 53 typical (50%) Frequent (79-30%) HP:0001987
9 respiratory insufficiency63 typical (50%) HP:0002093
10 abnormal pattern of respiration63 typical (50%) HP:0002793
11 dry skin63 occasional (7.5%) HP:0000958
12 alopecia63 53 occasional (7.5%) Occasional (29-5%) HP:0001596
13 thrombocytopenia63 53 occasional (7.5%) Occasional (29-5%) HP:0001873
14 incoordination63 occasional (7.5%) HP:0002311
15 reduced consciousness/confusion63 occasional (7.5%) HP:0004372
16 irritability63 53 Very frequent (99-80%) HP:0000737
17 skin rash63 HP:0000988
18 lethargy63 53 Occasional (29-5%) HP:0001254
19 coma63 53 Occasional (29-5%) HP:0001259
20 global developmental delay63 HP:0001263
21 hypertonia63 HP:0001276
22 metabolic acidosis63 HP:0001942
23 organic aciduria63 53 Frequent (79-30%) HP:0001992
24 vomiting63 HP:0002013
25 tachypnea63 53 Frequent (79-30%) HP:0002789
26 hyperventilation63 HP:0002883
27 feeding difficulties in infancy63 HP:0008872
28 eczema53 Occasional (29-5%)
29 keratoconjunctivitis53 Very frequent (99-80%)
30 ataxia53 Occasional (29-5%)
31 growth delay53 Very frequent (99-80%)
32 anorexia53 Very frequent (99-80%)
33 respiratory distress53 Frequent (79-30%)
34 perioral eczema53 Very frequent (99-80%)

UMLS symptoms related to Holocarboxylase Synthetase Deficiency:


exanthema, lethargy, seizures, vomiting

Drugs & Therapeutics for Holocarboxylase Synthetase Deficiency

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
2
Biotinapproved, nutraceutical4358-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
3Vitamin B Complex4229
4Vitamins5095
5Trace Elements5802
6Micronutrients5802
7FolateNutraceutical4279
8Vitamin B7Nutraceutical43
9Vitamin B9Nutraceutical4279

Interventional clinical trials:

idNameStatusNCT IDPhase
1Biotin Status in PregnancyCompletedNCT00894920
2Biotin Deficiency and Restless Legs SyndromeCompletedNCT02011191

Search NIH Clinical Center for Holocarboxylase Synthetase Deficiency


Cochrane evidence based reviews: holocarboxylase synthetase deficiency

Genetic Tests for Holocarboxylase Synthetase Deficiency

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Genetic tests related to Holocarboxylase Synthetase Deficiency:

id Genetic test Affiliating Genes
1 Holocarboxylase Synthetase Deficiency26 24 HLCS

Anatomical Context for Holocarboxylase Synthetase Deficiency

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MalaCards organs/tissues related to Holocarboxylase Synthetase Deficiency:

35
Skin, Eye

Animal Models for Holocarboxylase Synthetase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Holocarboxylase Synthetase Deficiency:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ACADL, ACADM, ACADVL, AGL, SLC25A13
2MP:00053697.9ACADM, ACADVL, AGL, BTD, PTS
3MP:00107686.9ACADL, ACADM, ACADVL, AGL, MTHFR, PC
4MP:00053766.3ACADL, ACADM, ACADVL, AGL, BTD, HADH

Publications for Holocarboxylase Synthetase Deficiency

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Articles related to Holocarboxylase Synthetase Deficiency:

(show all 49)
idTitleAuthorsYear
1
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. (27518780)
2016
2
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. (26754537)
2016
3
Holocarboxylase synthetase deficiency pre and post newborn screening. (27114915)
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
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. (19357990)
2009
10
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. (19201116)
2009
11
Management of a patient with holocarboxylase synthetase deficiency. (18974016)
2008
12
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency. (18442489)
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
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. (16231399)
2005
19
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. (16027709)
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
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations. (11185745)
2000
26
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. (10653324)
2000
27
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis. (11196112)
2000
28
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation. (10770035)
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 of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. (10437643)
1999
33
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. (10215065)
1999
34
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency. (9758715)
1998
35
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. (9870216)
1998
36
Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. (9645047)
1998
37
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. (9686819)
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

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

69 (show all 23)
id Symbol AA change Variation ID SNP ID
1HLCSp.Leu237ProVAR_005084rs119103227
2HLCSp.Val333GluVAR_009196
3HLCSp.Thr462IleVAR_009197
4HLCSp.Val550MetVAR_009198rs119103231
5HLCSp.Asp571AsnVAR_009199rs119103228
6HLCSp.Gly581SerVAR_009200rs119103230
7HLCSp.Arg508TrpVAR_013009rs119103229
8HLCSp.Leu216ArgVAR_021218rs28934602
9HLCSp.Asn511LysVAR_021219
10HLCSp.Gly582ArgVAR_021220rs376899782
11HLCSp.Arg183ProVAR_046507
12HLCSp.Arg360SerVAR_046508
13HLCSp.Val363AspVAR_046509rs769499327
14HLCSp.Tyr456CysVAR_046510rs781603756
15HLCSp.Leu470SerVAR_046511
16HLCSp.Gly518GluVAR_046512
17HLCSp.Val547GlyVAR_046513
18HLCSp.Asp615TyrVAR_046514
19HLCSp.Asp634AsnVAR_046515rs149399432
20HLCSp.Asp634TyrVAR_046516
21HLCSp.Asp715GlyVAR_046517
22HLCSp.Gly241TrpVAR_073074
23HLCSp.Gly505ArgVAR_073075

Clinvar genetic disease variations for Holocarboxylase Synthetase Deficiency:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1HLCSHLCS, 1-BP DEL, 780GdeletionPathogenicChr na, -1: -1
2HLCSNM_000411.6(HLCS): c.710T> C (p.Leu237Pro)SNVLikely pathogenic, Pathogenicrs119103227GRCh37Chr 21, 38309035: 38309035
3HLCSNM_000411.6(HLCS): c.1711G> A (p.Asp571Asn)SNVPathogenicrs119103228GRCh37Chr 21, 38132112: 38132112
4HLCSNM_000411.6(HLCS): c.1522C> T (p.Arg508Trp)SNVPathogenicrs119103229GRCh37Chr 21, 38137471: 38137471
5HLCSNM_000411.6(HLCS): c.1741G> A (p.Gly581Ser)SNVPathogenicrs119103230GRCh37Chr 21, 38132082: 38132082
6HLCSNM_000411.6(HLCS): c.1648G> A (p.Val550Met)SNVPathogenicrs119103231GRCh37Chr 21, 38137345: 38137345
7HLCSNM_000411.6(HLCS): c.1519+5G> ASNVPathogenicrs753887925GRCh38Chr 21, 36767213: 36767213
8HLCSNM_000411.6(HLCS): c.655dupA (p.Ile219Asnfs)duplicationPathogenicrs773102942GRCh37Chr 21, 38309090: 38309090
9HLCSNM_000411.6(HLCS): c.647T> G (p.Leu216Arg)SNVPathogenicrs28934602GRCh37Chr 21, 38309098: 38309098
10HLCSNM_000411.6(HLCS): c.1624C> T (p.Gln542Ter)SNVPathogenicrs794727957GRCh37Chr 21, 38137369: 38137369
11HLCSNM_000411.6(HLCS): c.782delG (p.Gly261Valfs)deletionPathogenicrs771944310GRCh38Chr 21, 36936663: 36936663
12HLCSNM_000411.6(HLCS): c.722G> C (p.Gly241Ala)SNVLikely pathogenicGRCh37Chr 21, 38309023: 38309023
13HLCSNM_000411.6: c.1533dupTduplicationLikely pathogenicChr na, -1: -1
14HLCSNM_000411.6: c.416T> ASNVLikely pathogenicChr na, -1: -1

Expression for genes affiliated with Holocarboxylase Synthetase Deficiency

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

Pathways for genes affiliated with Holocarboxylase Synthetase Deficiency

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.9BTD, HLCS
2
Show member pathways
9.8HADH, PC
39.3ACADL, ACADM, HADH
49.2ACADM, ACADVL, HADH
5
Show member pathways
9.2ACADM, MTHFR, PC
6
Show member pathways
9.1BTD, HLCS, MTHFR, PC
7
Show member pathways
8.9ACADL, ACADM, ACADVL, HADH
8
Show member pathways
8.9ACADL, ACADM, ACADVL, HADH
9
Show member pathways
8.6ACADL, ACADM, ACADVL, HADH, SLC25A20
10
Show member pathways
8.6ACADL, ACADM, ACADVL, HADH, SLC25A20
11
Show member pathways
5.2ACADL, ACADM, ACADVL, AGL, BTD, HADH

GO Terms for genes affiliated with Holocarboxylase Synthetase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057438.8ACADVL, HADH, SLC25A13, SLC25A20
2mitochondrial matrixGO:00057598.6ACADL, ACADM, ACADVL, BTD, HADH, PC
3mitochondrionGO:00057396.7ACADL, ACADM, ACADVL, HADH, HLCS, PC

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fatty acid biosynthetic processGO:004571710.1ACADL, ACADVL
2carnitine metabolic process, CoA-linkedGO:001925410.0ACADL, ACADM
3biotin metabolic processGO:000676810.0BTD, HLCS, PC
4gluconeogenesisGO:00060949.9PC, SLC25A13
5regulation of cholesterol metabolic processGO:00901819.9ACADL, ACADVL
6fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.9ACADL, ACADM, ACADVL
7negative regulation of fatty acid oxidationGO:00463229.8ACADL, ACADVL
8glycogen biosynthetic processGO:00059789.8ACADM, AGL
9temperature homeostasisGO:00016599.8ACADL, ACADVL
10lipid homeostasisGO:00550889.6ACADL, ACADM, ACADVL
11cellular amino acid metabolic processGO:00065209.1MTHFR, PTS
12fatty acid beta-oxidationGO:00066358.8ACADL, ACADM, ACADVL, HADH

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1long-chain-acyl-CoA dehydrogenase activityGO:000446610.4ACADL, ACADVL
2biotin bindingGO:000937410.4HLCS, PC
3oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.8ACADL, ACADM, ACADVL
4acyl-CoA dehydrogenase activityGO:00039959.8ACADL, ACADM, ACADVL
5fatty-acyl-CoA bindingGO:00000629.8ACADL, ACADM, ACADVL
6electron carrier activityGO:00090559.2ACADL, ACADM, ACADVL
7flavin adenine dinucleotide bindingGO:00506608.8ACADL, ACADM, ACADVL, MTHFR

Sources for Holocarboxylase Synthetase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet