MCID: MLT018
MIFTS: 35

Multiple Carboxylase Deficiency malady

Category: Metabolic diseases

Aliases & Classifications for Multiple Carboxylase Deficiency

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Aliases & Descriptions for Multiple Carboxylase Deficiency:

Name: Multiple Carboxylase Deficiency 10 47 12 36 65
 
Holocarboxylase Synthetase Deficiency 65

Classifications:



External Ids:

Disease Ontology10 DOID:857
MeSH36 D009100
UMLS65 C0026755

Summaries for Multiple Carboxylase Deficiency

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Wikipedia:68 Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation... more...

MalaCards based summary: Multiple Carboxylase Deficiency, also known as holocarboxylase synthetase deficiency, is related to biotinidase deficiency and lymphangioma, and has symptoms including hearing impairment, skin rash and hypertrichosis. An important gene associated with Multiple Carboxylase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways are Biotin metabolism and Fatty acid metabolism. Affiliated tissues include skin, eye and breast.

Disease Ontology:10 An amino acid metabolic disorder that involves failures of carboxylation enzymes.

Related Diseases for Multiple Carboxylase Deficiency

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Graphical network of the top 20 diseases related to Multiple Carboxylase Deficiency:



Diseases related to multiple carboxylase deficiency

Symptoms for Multiple Carboxylase Deficiency

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HPO human phenotypes related to Multiple Carboxylase Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 skin rash hallmark (90%) HP:0000988
3 hypertrichosis hallmark (90%) HP:0000998
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 nausea and vomiting hallmark (90%) HP:0002017
7 reduced consciousness/confusion hallmark (90%) HP:0004372
8 abnormal blistering of the skin hallmark (90%) HP:0008066
9 inflammatory abnormality of the eye hallmark (90%) HP:0100533
10 cognitive impairment hallmark (90%) HP:0100543
11 weight loss typical (50%) HP:0001824

Drugs & Therapeutics for Multiple Carboxylase Deficiency

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Drugs for Multiple Carboxylase 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 Multiple Carboxylase Deficiency


Cochrane evidence based reviews: multiple carboxylase deficiency

Genetic Tests for Multiple Carboxylase Deficiency

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Anatomical Context for Multiple Carboxylase Deficiency

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MalaCards organs/tissues related to Multiple Carboxylase Deficiency:

33
Skin, Eye, Breast, T cells, Thyroid, Prostate, Testes

Animal Models for Multiple Carboxylase Deficiency or affiliated genes

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Publications for Multiple Carboxylase Deficiency

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Articles related to Multiple Carboxylase Deficiency:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Metastatic Ocular Melanoma Presenting as a Heart-Compressing Mediastinal Mass. (26434443)
2015
2
Total and differential white blood cell counts, high-sensitivity C-reactive protein, and cardiovascular risk in non-affective psychoses. (25542737)
2015
3
MiR-568 inhibits the activation and function of CD4a8_ T cells and Treg cells by targeting NFAT5. (24355664)
2014
4
Silent corticotroph adenoma. (23615102)
2013
5
Keratitis with Elizabethkingia meningoseptica occurring after contact lens wear: a case report. (23543626)
2013
6
The interaction of octopamine and neuropeptides to slow aversive responses in C. elegans mimics the modulation of chronic pain in mammals. (24058849)
2012
7
Immunohistochemical expression of cycloxygenase-2 in astrocytoma: correlation with angiogenesis, tumor progression and survival. (21294088)
2011
8
Black race, sex, and extrapulmonary tuberculosis risk: an observational study. (20096113)
2010
9
Aldosterone synthase (CYP11B2) C-344T polymorphism affects the association of age-related changes of the serum C-reactive protein. (20094057)
2010
10
Biophysical characterization of an ensemble of intramolecular i-motifs formed by the human c-MYC NHE III1 P1 promoter mutant sequence. (20643075)
2010
11
Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. (20463145)
2010
12
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. (20104613)
2010
13
NF1 inactivation revs up Ras in adult acute myelogenous leukemia. (20587590)
2010
14
Hydrogel-mediated DNA delivery confers estrogenic response in nonresponsive osteoblast cells. (19148929)
2009
15
Transsexualism in Serbia: a twenty-year follow-up study. (18331254)
2009
16
Multimodality therapy in penile cancer: when and which treatments? (18682961)
2009
17
Pro-inflammatory enzymes, cyclooxygenase 1, cyclooxygenase 2, and 5-lipooxygenase, inhibited by stabilized rice bran extracts. (19627211)
2009
18
Diagnostic and prognostic utility of molecular markers in synchronous bilateral breast carcinoma. (18469799)
2008
19
Acquired acrodermatitis enteropathica secondary to alcoholism. (18712026)
2008
20
A module of negative feedback regulators defines growth factor signaling. (17322878)
2007
21
Treatment options for refractory Wegener's granulomatosis: a role for rituximab? (17979026)
2007
22
Detection of transcriptional activities of tumor-specific survivin promoter in human prostatic carcinoma]. (17615972)
2007
23
In vivo expression and functional characterization of the zinc transporter ZnT8 in glucose-induced insulin secretion. (16984975)
2006
24
Tyrosine phosphatase SHP-1 acts at different stages of development to regulate hematopoiesis. (15701718)
2005
25
Aromatase and endometriosis. (15083380)
2004
26
Synthesis of cinnamic acid derivatives and their inhibitory effects on LDL-oxidation, acyl-CoA:cholesterol acyltransferase-1 and -2 activity, and decrease of HDL-particle size. (15324887)
2004
27
Contrasting effects of hydroxyurea on cell growth and reduction in Epstein-Barr virus genomes in EBV-infected epithelioid cell lines vs Burkitt's lymphoma cell lines. (12696111)
2003
28
Familial chronic lymphocytic leukemia. (14555317)
2003
29
Inhibin alpha distinguishes hemangioblastoma from clear cell renal cell carcinoma. (12883249)
2003
30
Matrix metalloproteinase-9 in pneumococcal meningitis: activation via an oxidative pathway. (12717622)
2003
31
Spinal muscular atrophy genetic testing experience at an academic medical center. (11826188)
2002
32
The fraction of perforin-expressing HIV-specific CD8 T cells is a marker for disease progression in HIV infection. (12131187)
2002
33
Prophylaxis of ophthalmia neonatorum--a nationwide survey of the current practice in Austria. (12238308)
2002
34
Chorioretinitis after keratitis caused by Acanthamoeba: case report and review of the literature. (11733264)
2001
35
Effects of hyperprolactinemia on osteoporotic fracture risk in premenopausal women. (11293923)
2001
36
Hyperkeratosis lenticularis perstans (Flegel's disease)--lack of response to treatment with tacalcitol and calcipotriol. (11385235)
2001
37
Adenosquamous Carcinoma of the Pancreas: Successful Treatment with Extended Radical Surgery, Intraoperative Radiation Therapy, and Locoregional Chemotherapy. (12754405)
2001
38
Promotion of adhesion and migration of RPE cells to provisional extracellular matrices by TNF-alpha. (11095634)
2000
39
Fibroblast growth factor 2 internal ribosome entry site (IRES) activity ex vivo and in transgenic mice reveals a stringent tissue-specific regulation. (10893274)
2000
40
Analysis of lipoprotein lipase haplotypes reveals associations not apparent from analysis of the constituent loci. (11246452)
1999
41
Prevalence of hypophosphatemia in sepsis and infection: the role of cytokines. (9528718)
1998
42
Processing and activation of pro-interleukin-16 by caspase-3. (9422780)
1998
43
Evidence for distinct contributions of heavy and light chains to restriction of antibody recognition of the HIV-1 principal neutralization determinant. (8568275)
1996
44
Effect of cytokine treatment (granulocyte colony-stimulating factor and stem cell factor) on hematopoiesis and the circulating pool of hematopoietic stem cells in mice. (8647232)
1996
45
Combined action of paraquat and superoxide on the peroxidation of detergent-dispersed linolenic acid. (1329974)
1992
46
The effect of a met-enkephalin analogue on growth hormone, prolactin, gonadotropins, cortisol and thyroid stimulating hormone in healthy elderly men. (1414144)
1992
47
Risk factors for candidemia in patients with acute lymphocytic leukemia. (2041951)
1991
48
Rapid neural regulation of muscle urokinase-like plasminogen activator as defined by nerve crush. (2109320)
1990
49
Development of multiple endocrine neoplasia type 2A does not involve substantial deletions of chromosome 10. (2565874)
1989
50

Variations for Multiple Carboxylase Deficiency

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Expression for genes affiliated with Multiple Carboxylase Deficiency

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Search GEO for disease gene expression data for Multiple Carboxylase Deficiency.

Pathways for genes affiliated with Multiple Carboxylase Deficiency

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Pathways related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.8BTD, HLCS
2
Show member pathways
9.6ACACA, ACADM
3
Show member pathways
9.5ACACA, ACADM
4
Show member pathways
9.5ACACA, PC
5
Show member pathways
9.2ACADM, PCCB
68.8ACACA, ACADM, PCCB
7
Show member pathways
8.6ACADM, MCCC2, PCCB
8
Show member pathways
8.2ACADM, OTC, PC, PCCB
9
Show member pathways
8.1ACACA, MCCC2, PC, PCCB
10
Show member pathways
8.1ACACA, MCCC2, PC, PCCB
11
Show member pathways
7.4ACACA, BTD, HLCS, MCCC2, PC, PCCB
12
Show member pathways
6.4ACACA, ACADM, BTD, HLCS, MCCC2, OTC

GO Terms for genes affiliated with Multiple Carboxylase Deficiency

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Biological processes related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:00067689.7BTD, PCCB
2water-soluble vitamin metabolic processGO:00067679.5HLCS, PCCB
3cellular nitrogen compound metabolic processGO:00346419.5MCCC2, OTC
4liver developmentGO:00018899.2ACADM, OTC
5cellular lipid metabolic processGO:00442558.8ACACA, ACADM, PCCB
6vitamin metabolic processGO:00067668.1ACACA, MCCC2, PC, PCCB

Molecular functions related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1biotin bindingGO:00093749.6HLCS, PC

Sources for Multiple Carboxylase 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