MCID: HLC001
MIFTS: 59

Holocarboxylase Synthetase Deficiency malady

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

Aliases & Classifications for Holocarboxylase Synthetase Deficiency

About this section
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 Fatty Acid Biosynthesis (WikiPathways). Affiliated tissues include skin, heart and breast, 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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Diseases related to Holocarboxylase Synthetase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency32.9ACADM, BTD, HLCS
2multiple carboxylase deficiency, biotin responsive11.6
3multiple carboxylase deficiency11.5
4congenital adrenal hyperplasia10.4BTD, HLCS, PC
5mitochondrial complex iii deficiency, nuclear type 410.3ACADVL, SLC25A20
6was-related disorders10.3ACADM, ACADVL
7dyskeratosis congenita, autosomal recessive 110.2ACADM, HMGCL
8biotin deficiency10.2
9paramyloidosis10.2BTD, HLCS, HMGCL
10external pathological resorption10.2ACADM, HMGCL
11hyperinsulinemic hypoglycemia, familial, 410.2ACADVL, HADH
12lacrimal gland adenocarcinoma10.2AGL, BTD, HLCS
13xanthinuria10.2ACADL, ACADVL, SLC25A20
14chromosome 4q32.1-q32.2 triplication syndrome10.1ACADM, ACADVL, HMGCL
15enthesopathy10.1MTHFR, PC
16cerebral palsy10.0
17glycogen storage disease10.0
18organic acidemia10.0
19cerebritis10.0
20lactic acidosis10.0
21vocal cord scarring10.0ACADVL, SLC25A13
22lichen nitidus10.0ACADM, BTD, HLCS, PC
23survival motor neuron spinal muscular atrophy9.9ACADM, BTD, HLCS, HMGCL
24leukemia, chronic lymphocytic 39.9PC, SLC25A13
25acyl-coa dehydrogenase, medium chain, deficiency of9.9ACADL, ACADM, ACADVL, BTD
26usher syndrome, type 1g9.8ACADM, BTD, SLC25A13
27maple syrup urine disease, type ii9.8ACADM, ACADVL, BTD, HMGCL
28primary cerebellar degeneration9.8BTD, PTS
29lymphangioma9.7ACADM, HMGCL, MTHFR, PC
30methylmalonic aciduria and homocystinuria type cble9.7ACADVL, MTHFR
31noonan syndrome 19.6ACADM, BTD, PTS
32mast-cell leukemia9.6ACADM, MTHFR, SLC25A13
33propionicacidemia9.4ACADL, ACADM, HLCS, HMGCL, SLC25A13
34fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form9.2ACADL, ACADM, ACADVL, SLC25A13, SLC25A20
35transmitted_by8.9ACADL, ACADM, ACADVL, AGL, HADH, SLC25A20
36aceruloplasminemia8.2ACADM, ACADVL, HADH, HMGCL, PTS, SLC25A13
37long qt syndrome 65.9ACADL, 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

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

UMLS symptoms related to Holocarboxylase Synthetase Deficiency:


vomiting, seizures, lethargy, exanthema

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, Heart, Breast, Lung, Thyroid, Eye, 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 48)
idTitleAuthorsYear
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
Severe neonatal holocarboxylase synthetase deficiency in west african siblings. (25690727)
2015
4
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. (24085707)
2013
5
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. (21894551)
2012
6
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient. (21874615)
2012
7
Holocarboxylase synthetase deficiency: novel clinical and molecular findings. (20095979)
2010
8
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. (19201116)
2009
9
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. (19357990)
2009
10
Management of a patient with holocarboxylase synthetase deficiency. (18974016)
2008
11
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency. (18442489)
2008
12
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
13
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. (17417720)
2007
14
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
15
Holocarboxylase synthetase deficiency presenting as ichthyosis. (16650223)
2006
16
Holocarboxylase synthetase deficiency: report of one case. (17407983)
2006
17
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. (16231399)
2005
18
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. (16027709)
2005
19
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. (12633764)
2003
20
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. (12855220)
2003
21
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. (12124727)
2002
22
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. (11735028)
2001
23
Holocarboxylase synthetase deficiency]. (11462701)
2001
24
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations. (11185745)
2000
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
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy. (10234606)
1999
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
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. (10437643)
1999
32
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. (10215065)
1999
33
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency. (9758715)
1998
34
Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. (9645047)
1998
35
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. (9686819)
1998
36
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. (9870216)
1998
37
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency. (9183268)
1997
38
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate. (8814349)
1996
39
Late-onset holocarboxylase synthetase deficiency. (8982946)
1996
40
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. (8541348)
1995
41
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. (8006369)
1994
42
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. (8319716)
1993
43
A new case of holocarboxylase synthetase deficiency. (2515377)
1989
44
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. (2515372)
1989
45
Biotin holocarboxylase synthetase deficiency. (3860175)
1985
46
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. (6811711)
1982
47
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency. (7226522)
1981
48
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:

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
9.7HADH, PC
3
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9.7ACADL, HADH
4
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9.5ACADM, HADH
5
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9.2ACADL, ACADM, HADH
6
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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