MCID: HLC001
MIFTS: 56

Holocarboxylase Synthetase Deficiency malady

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

Aliases & Classifications for Holocarboxylase Synthetase Deficiency

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Holocarboxylase Synthetase Deficiency:

Name: Holocarboxylase Synthetase Deficiency 49 10 11 45 22 23 47 12 51 67 36 65
Early-Onset Multiple Carboxylase Deficiency 22 51 67
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency 22 23
Early-Onset Combined Carboxylase Deficiency 22 23
Infantile Multiple Carboxylase Deficiency 22 23
Holocarboxylase Synthetase 11 24
Hlcs Deficiency 23 67
Biotin-Responsive Multiple Carboxylase Deficiency 67
 
Multiple Carboxylase Deficiency - Neonatal Onset 10
Multiple Carboxylase Deficiency, Neonatal Form 23
Biotin Holocarboxylase Synthetase Deficiency 22
Neonatal Multiple Carboxylase Deficiency 51
Biotin- Ligase Deficiency 10
Biotin-Responsive Mcd 67
Mcd Neonatal Form 67
Early-Onset Mcd 67

Characteristics:

Orphanet epidemiological data:

51
holocarboxylase synthetase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
holocarboxylase synthetase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 253270
Disease Ontology10 DOID:859
ICD1027 D81.818
MeSH36 D028922
Orphanet51 79242
ICD10 via Orphanet28 E53.8
MESH via Orphanet37 D028922
UMLS via Orphanet66 C0268581
MedGen34 C0268581
UMLS65 C0268581

Summaries for Holocarboxylase Synthetase Deficiency

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OMIM:49 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 biotinidase deficiency and multiple carboxylase deficiency, biotin responsive, and has symptoms including cheilitis, inflammatory abnormality of the eye and nausea and vomiting. An important gene associated with Holocarboxylase Synthetase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways are Biotin metabolism and . Affiliated tissues include skin, lung and eye, and related mouse phenotypes are liver/biliary system and mortality/aging.

Disease Ontology:10 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 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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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

Symptoms:

 51 (show all 17)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • oral mucosa disease/cheilitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • respiratory rhythm disorder
  • hyperammonemia
  • dry/squaly skin/exfoliation
  • alopecia
  • ataxia/incoordination/trouble of the equilibrium
  • obnubilation/coma/lethargia/desorientation
  • thrombocytopenia/thrombopenia

HPO human phenotypes related to Holocarboxylase Synthetase Deficiency:

(show all 32)
id Description Frequency HPO Source Accession
1 cheilitis hallmark (90%) HP:0100825
2 inflammatory abnormality of the eye hallmark (90%) HP:0100533
3 nausea and vomiting hallmark (90%) HP:0002017
4 weight loss hallmark (90%) HP:0001824
5 muscular hypotonia hallmark (90%) HP:0001252
6 seizures hallmark (90%) HP:0001250
7 behavioral abnormality hallmark (90%) HP:0000708
8 abnormal pattern of respiration typical (50%) HP:0002793
9 respiratory insufficiency typical (50%) HP:0002093
10 hyperammonemia typical (50%) HP:0001987
11 reduced consciousness/confusion occasional (7.5%) HP:0004372
12 incoordination occasional (7.5%) HP:0002311
13 thrombocytopenia occasional (7.5%) HP:0001873
14 alopecia occasional (7.5%) HP:0001596
15 dry skin occasional (7.5%) HP:0000958
16 feeding difficulties in infancy HP:0008872
17 hyperventilation HP:0002883
18 tachypnea HP:0002789
19 vomiting HP:0002013
20 organic aciduria HP:0001992
21 hyperammonemia HP:0001987
22 metabolic acidosis HP:0001942
23 thrombocytopenia HP:0001873
24 alopecia HP:0001596
25 hypertonia HP:0001276
26 global developmental delay HP:0001263
27 coma HP:0001259
28 lethargy HP:0001254
29 muscular hypotonia HP:0001252
30 seizures HP:0001250
31 skin rash HP:0000988
32 irritability HP:0000737

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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Biotinapproved, nutraceutical3658-85-5171548
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
2
Folic Acidapproved, nutraceutical292459-30-36037
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
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
3Vitamin B Complex2847
4Vitamins3857
5Trace Elements3900
6Micronutrients3901
7Contraceptives, Oral3734
8Vitamin B9Nutraceutical2924
9Vitamin B7Nutraceutical36
10FolateNutraceutical2924

Interventional clinical trials:

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

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 Deficiency22 HLCS

Anatomical Context for Holocarboxylase Synthetase Deficiency

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MalaCards organs/tissues related to Holocarboxylase Synthetase Deficiency:

33
Skin, Lung, Eye, Breast, Testes, Smooth muscle, Endothelial

Animal Models for Holocarboxylase Synthetase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Holocarboxylase Synthetase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2ACADL, ACADM, ACADVL, AGL, HMGCL, SLC25A13
2MP:00107686.0ACADL, ACADM, ACADVL, AGL, HMGCL, MTHFR
3MP:00053764.9ACADL, ACADM, ACADVL, AGL, BTD, HADH

Publications for Holocarboxylase Synthetase Deficiency

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Articles related to Holocarboxylase Synthetase Deficiency:

(show all 46)
idTitleAuthorsYear
1
Inflammation, immunity and suicidality: a potential role for autoantibodies against neurotransmitters and antiphospholipid syndrome? (26456155)
2015
2
A genetic study of steroid-resistant nephrotic syndrome: relationship between polymorphism -173 G to C in the MIF gene and serum level MIF in children. (26541175)
2015
3
MEKK2 regulates focal adhesion stability and motility in invasive breast cancer cells. (24491810)
2014
4
PEG-coated irinotecan cationic liposomes improve the therapeutic efficacy of breast cancer in animals. (24379067)
2013
5
The bacteriology of diabetic foot ulcers, with a special reference to multidrug resistant strains. (23634392)
2013
6
Association of genetic variants with primary angle closure glaucoma in two different populations. (23840785)
2013
7
Leptin promotes neointima formation and smooth muscle cell proliferation via NADPH oxidase activation and signalling in caveolin-rich microdomains. (23723060)
2013
8
Ocular manifestations of drug and alcohol abuse. (24100364)
2013
9
Diagnostic dental radiographs not allowed! A child with ataxia telangiectasia. (23943361)
2013
10
The association of physical activity and physical function with clinical outcomes in adults with chronic kidney disease. (24100215)
2013
11
Implication of crystal water molecules in inhibitor binding at ALR2 active site. (22649481)
2012
12
Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90. (22084066)
2011
13
Transcatheter patch occlusion of ventricular septal defect in Down syndrome. (21481831)
2011
14
Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1 polymorphisms in prepubertal Ukrainian boys. (21955839)
2011
15
Comparison of maternal and neonatal outcomes in women with HELLP syndrome and women with severe preeclampsia without HELLP syndrome. (22439062)
2010
16
Differential effects of Phe19 and Phe20 on fibril formation by amyloidogenic peptide A beta 16-22 (Ac-KLVFFAE-NH2). (20544966)
2010
17
Elevated C-reactive protein level in hemodialysis patients with moderate/severe uremic pruritus: a potential mediator of high overall mortality. (20350963)
2010
18
Role of xanthine oxidase activation and reduced glutathione depletion in rhinovirus induction of inflammation in respiratory epithelial cells. (18678861)
2008
19
On heating milk, the dissociation of kappa-casein from the casein micelles can precede interactions with the denatured whey proteins. (18701003)
2008
20
The vascular endothelial growth factor +405G>C polymorphism in endometriosis. (17977866)
2008
21
Sex hormone-binding globulin and testosterone in individuals with childhood diabetes. (18346991)
2008
22
Acquired acrodermatitis enteropathica secondary to alcoholism. (18712026)
2008
23
Increased seroreactivity to glioma-expressed antigen 2 in brain tumor patients under radiation. (18478111)
2008
24
Biological variation and reference intervals for circulating osteopontin, osteoprotegerin, total soluble receptor activator of nuclear factor kappa B ligand and high-sensitivity C-reactive protein. (17852826)
2007
25
West Nile virus-induced neuroinflammation: glial infection and capsid protein-mediated neurovirulence. (17670819)
2007
26
New insights into spontaneous intestinal perforation using a national data set: (1) SIP is associated with early indomethacin exposure. (16319937)
2006
27
Two separate regions essential for nuclear import of the hnRNP D nucleocytoplasmic shuttling sequence. (16045768)
2005
28
Distribution pattern of tenascin-C in glioblastoma: correlation with angiogenesis and tumor cell proliferation. (16388320)
2005
29
Effect of activated recombinant human factor 7 (Niastase) on laboratory testing of inhibitors of factors VIII and IX. (16024335)
2005
30
Insulin-like growth factor (IGF) parameters and tools for efficacy: the IGF-I generation test in children. (15761231)
2004
31
The farnesoid X receptor: a novel drug target? (15330745)
2004
32
Perforated duodenal ulcer associated with ovarian hyperstimulation syndrome: Case Report. (11139559)
2001
33
Anesthesia for Cesarean section and posterior fossa craniotomy in a patient with von Hippel-Lindau disease. (11339783)
2001
34
Nitric oxide enhances MPP(+) inhibition of complex I. (11522295)
2001
35
Allosteric effects of Pit-1 DNA sites on long-term repression in cell type specification. (11073444)
2000
36
Granulocytic ehrlichiosis in two dogs in Switzerland. (9276407)
1997
37
Recognition of telomeric DNA. (9048479)
1997
38
Multiple granular cell tumor: a case report and review of the literature. (9323154)
1997
39
Evidence for distinct contributions of heavy and light chains to restriction of antibody recognition of the HIV-1 principal neutralization determinant. (8568275)
1996
40
Classical Hodgkin and Reed-Sternberg cells demonstrate a non-clonal immature B lymphoid lineage: evidence from a single cell assay and in situ hybridization. (9119357)
1996
41
Cloning and characterization of the cDNA encoding human biliverdin-IX alpha reductase. (8950184)
1996
42
Calicin in human sperm fertilizing zona-free hamster eggs in vitro. (7569061)
1995
43
Thymosin alpha-1 and FA-1 monoclonal antibody affect fertilizing capacity of human sperm by modulating protein phosphorylation pattern. (8531188)
1995
44
Dissociation of peripheral protein-membrane complexes by high pressure. (1304354)
1992
45
A study on the melanin-laden dendritic cell (melanocyte) in ovarian cystic teratoma. (676745)
1978
46
Legg-CalvAc-Perthes disease. (5144012)
1971

Variations for Holocarboxylase Synthetase Deficiency

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

67 (show all 23)
id Symbol AA change Variation ID SNP ID
1HLCSp.Leu237ProVAR_005084
2HLCSp.Val333GluVAR_009196
3HLCSp.Thr462IleVAR_009197
4HLCSp.Val550MetVAR_009198
5HLCSp.Asp571AsnVAR_009199rs119103228
6HLCSp.Gly581SerVAR_009200
7HLCSp.Arg508TrpVAR_013009
8HLCSp.Leu216ArgVAR_021218rs28934602
9HLCSp.Asn511LysVAR_021219
10HLCSp.Gly582ArgVAR_021220rs376899782
11HLCSp.Arg183ProVAR_046507
12HLCSp.Arg360SerVAR_046508
13HLCSp.Val363AspVAR_046509
14HLCSp.Tyr456CysVAR_046510
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
id Gene Variation Type Significance SNP ID Assembly Location
1HLCSHLCS, 1-BP DEL, 780GdeletionPathogenic
2HLCSNM_000411.6(HLCS): c.710T> C (p.Leu237Pro)single nucleotide variantPathogenicrs119103227GRCh37Chr 21, 38309035: 38309035
3HLCSNM_000411.6(HLCS): c.1711G> A (p.Asp571Asn)single nucleotide variantPathogenicrs119103228GRCh37Chr 21, 38132112: 38132112
4HLCSNM_000411.6(HLCS): c.1522C> T (p.Arg508Trp)single nucleotide variantPathogenicrs119103229GRCh37Chr 21, 38137471: 38137471
5HLCSNM_000411.6(HLCS): c.1741G> A (p.Gly581Ser)single nucleotide variantPathogenicrs119103230GRCh37Chr 21, 38132082: 38132082
6HLCSNM_000411.6(HLCS): c.1648G> A (p.Val550Met)single nucleotide variantPathogenicrs119103231GRCh37Chr 21, 38137345: 38137345
7HLCSNM_000411.6(HLCS): c.1519+5G> Asingle nucleotide variantPathogenicrs753887925GRCh38Chr 21, 36767213: 36767213
8HLCSNM_000411.6(HLCS): c.655dupA (p.Ile219Asnfs)duplicationPathogenicrs773102942GRCh37Chr 21, 38309090: 38309090
9HLCSNM_000411.6(HLCS): c.647T> G (p.Leu216Arg)single nucleotide variantPathogenicrs28934602GRCh37Chr 21, 38309098: 38309098
10HLCSNM_000411.6(HLCS): c.1624C> T (p.Gln542Ter)single nucleotide variantPathogenicrs794727957GRCh37Chr 21, 38137369: 38137369

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 13)
idSuper pathwaysScoreTop Affiliating Genes
110.0BTD, HLCS
2
Show member pathways
9.7BTD, HLCS
3
Show member pathways
9.7ACADL, HADH
4
Show member pathways
9.5ACADM, HADH
5
Show member pathways
9.2ACADL, ACADM, HADH
6
Show member pathways
9.2ACADM, HADH, HMGCL
79.2ACADM, ACADVL, HADH
8
Show member pathways
9.1BTD, HLCS, MTHFR, PC
9
Show member pathways
8.9ACADL, ACADM, ACADVL, HADH
10
Show member pathways
8.9ACADL, ACADM, ACADVL, HADH
11
Show member pathways
8.5ACADL, ACADM, ACADVL, HADH, SLC25A20
12
Show member pathways
8.2ACADL, ACADM, ACADVL, HADH, HMGCL, SLC25A20
13
Show member pathways
5.0ACADL, ACADM, ACADVL, AGL, BTD, HADH

GO Terms for genes affiliated with Holocarboxylase Synthetase Deficiency

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.5ACADL, ACADVL
2response to starvationGO:004259410.2ACADM, HMGCL
3negative regulation of fatty acid oxidationGO:004632210.1ACADL, ACADVL
4vitamin metabolic processGO:00067669.8MTHFR, PC
5oxidation-reduction processGO:00551149.4ACADL, ACADM, ACADVL
6response to drugGO:00424939.3ACADM, HADH, MTHFR
7glucose metabolic processGO:00060069.2AGL, PC, SLC25A13
8small molecule metabolic processGO:00442818.3AGL, BTD, MTHFR, PC, SLC25A13, SLC25A20

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

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:000006210.0ACADL, ACADVL
2biotin bindingGO:00093749.6HLCS, PC
3electron carrier activityGO:00090559.4ACADL, ACADM, ACADVL

Sources for Holocarboxylase Synthetase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet