Aliases & Classifications for Multiple Carboxylase Deficiency

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Sources:
60UMLS, 9Disease Ontology, 11DISEASES, 43Novoseek, 33MeSH
See all sources

Multiple Carboxylase Deficiency, Aliases & Descriptions:

Name: Multiple Carboxylase Deficiency 9 11 43 60
 
Holocarboxylase Synthetase Deficiency 60


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Disease Ontology9 DOID:857
MeSH33 D009100

Summaries for Multiple Carboxylase Deficiency

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Wikipedia:63 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 holocarboxylase synthetase deficiency, and has symptoms including hearing impairment, skin rash and hypertrichosis. An important gene associated with Multiple Carboxylase Deficiency is BTD (biotinidase), and among its related pathways are Biotin metabolism and Valine, leucine and isoleucine degradation. The compounds multivitamin and acetyl-l-carnitine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver.

Disease Ontology:9 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 12)
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 abnormality of the immune system hallmark (90%) HP:0002715
8 reduced consciousness/confusion hallmark (90%) HP:0004372
9 abnormal blistering of the skin hallmark (90%) HP:0008066
10 inflammatory abnormality of the eye hallmark (90%) HP:0100533
11 cognitive impairment hallmark (90%) HP:0100543
12 weight loss typical (50%) HP:0001824

Drugs & Therapeutics for Multiple Carboxylase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Multiple Carboxylase Deficiency

Search NIH Clinical Center for 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:

31
Skin, Eye, Liver, Brain

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
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase. (25284861)
2014
2
Gene mutation analyses in Chinese children with multiple carboxylase deficiency]. (19806568)
2009
3
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. (18845537)
2008
4
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (18429047)
2008
5
Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency. (18088573)
2008
6
Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. (17274881)
2006
7
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. (14613969)
2004
8
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. (15456772)
2004
9
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. (15165201)
2004
10
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. (10068510)
1999
11
Multiple carboxylase deficiency]. (9492625)
1998
12
Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. (9645047)
1998
13
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. (9350481)
1997
14
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy. (9061576)
1997
15
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency. (8517616)
1993
16
Neonatal form of biotin-responsive multiple carboxylase deficiency. (1297821)
1992
17
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. (2501583)
1989
18
Biotin-responsive multiple carboxylase deficiency and immunodeficiency. (2663376)
1989
19
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. (3148068)
1988
20
Multiple carboxylase deficiency. (3284772)
1988
21
Multiple carboxylase deficiency due to deficiency of biotinidase. (3783319)
1986
22
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. (3920902)
1985
23
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency. (3930851)
1985
24
Prenatal treatment of multiple carboxylase deficiency. (3925857)
1985
25
Lipid metabolism in biotin-responsive multiple carboxylase deficiency. (2878112)
1985
26
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin. (6434862)
1984
27
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. (6141728)
1984
28
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. (6828095)
1983
29
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (6883721)
1983
30
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. (6886110)
1983
31
Biotinidase deficiency in juvenile multiple carboxylase deficiency. (6135890)
1983
32
Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (6848914)
1983
33
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. (6212592)
1982
34
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. (6799930)
1982
35
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. (6811711)
1982
36
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. (7102675)
1982
37
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. (6807281)
1982
38
Organic aciduria in neonatal multiple carboxylase deficiency. (6820414)
1982
39
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin. (6819258)
1982
40
Prenatal treatment of biotin responsive multiple carboxylase deficiency. (6123722)
1982
41
Defective biotin absorption in multiple carboxylase deficiency. (6114319)
1981
42
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. (6112081)
1981
43
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (6798072)
1981
44
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis. (7198043)
1981
45
Biotin-responsive multiple carboxylase deficiency of infantile onset. (7264799)
1981
46
Two forms of biotin-responsive multiple carboxylase deficiency. (6790844)
1981
47
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group. (6794361)
1981
48
The neonatal form of biotin-responsive multiple carboxylase deficiency. (7264798)
1981
49
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. (6787561)
1981
50
Fatty-acid-responsive alopecia in multiple carboxylase deficiency. (6103410)
1980

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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9HLCS, BTD
2
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
9.7ACADM, ACACA
3
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis58
9.7ACADM, ACACA
4
Show member pathways
Fatty Acid Biosynthesis36
9.6ACACA, PC
5
Show member pathways
methylglyoxal degradation VI36
methylglyoxal degradation I36
9.6PC, ACACA
69.4BTD, MMACHC
7
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.3OTC, PC, ACADM
86.5HLCS, AMN, NAPRT1, MMACHC, ACACA, PC
9
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
6.5CD320, HLCS, AMN, NAPRT1, MMACHC, ACACA
10
Show member pathways
5.8HLCS, AMN, NAPRT1, MMACHC, ACACA, ACADM

Compounds for genes affiliated with Multiple Carboxylase Deficiency

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 32)
idCompoundScoreTop Affiliating Genes
1multivitamin4310.2HLCS, BTD
2acetyl-l-carnitine4310.0ACADM, OTC
3bamhi4310.0OTC, ACADM
4phenylacetic acid49 43 2412.0PC, OTC
5alpha lipoic acid439.9BTD, PC
6carbamoyl phosphate439.9OTC, PC
7citrulline43 2410.9OTC, PC
8malate439.8PC, OTC
9valproic acid43 49 24 1212.8BTD, ACADM, OTC
10glycerol 3-phosphate43 2410.8PC, ACACA
11s-adenosylmethionine43 24 1211.7ACADM, PC, HLCS
12phosphoenolpyruvate43 1210.7PC, OTC
13oleic acid43 28 24 1212.7ACADM, ACACA
14palmitate439.6ACACA, ACADM, PC
153-methylcrotonyl-coa43 2410.5HLCS, ACADM, PC, BTD
16hydroxocobalamin43 1210.5MMACHC, AMN
17cyanocobalamin49 24 1211.4MMACHC, AMN
18Phosphate249.4ACACA, OTC, PC
19glutamine439.4ACADM, PC, OTC
20biotin43 24 1211.4BTD, ACACA, HLCS, PC
21acetyl-coa43 2410.3ACADM, ACACA, HLCS, PC
22cobalamin43 2410.3MMACHC, CD320
23glycogen43 2410.3ACACA, OTC, PC, BTD
24pyruvate439.3PC, OTC, HLCS, ACACA
25lysine439.1BTD, HLCS, ACADM, PC, OTC
26leucine439.0OTC, ACACA, HLCS
27carnitine439.0PC, ACADM, HLCS, ACACA, OTC
28glucose438.9ACACA, ACADM, OTC, BTD, PC
29lipid438.8OTC, PC, ACADM, ACACA
30acyl-coa438.7ACACA, HLCS, BTD, OTC, ACADM, PC
31fatty acid438.7OTC, BTD, PC, ACACA, HLCS, ACADM
32lactate438.7ACACA, PC, BTD, OTC, HLCS, ACADM

GO Terms for genes affiliated with Multiple Carboxylase Deficiency

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Cellular components related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057598.7ACADM, PC, BTD, OTC
2cytosolGO:00058297.9PC, ACACA, MMACHC, NAPRT1, HLCS
3mitochondrionGO:00057397.6OTC, PC, ACADM, ACACA, MMACHC, HLCS

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:00018899.8OTC, ACADM
2response to biotinGO:00707819.5OTC, HLCS
3biotin metabolic processGO:00067689.0HLCS, ACACA, PC, BTD
4cobalamin metabolic processGO:00092358.4CD320, MMACHC, AMN
5vitamin metabolic processGO:00067666.6CD320, HLCS, BTD, PC, ACACA, MMACHC
6water-soluble vitamin metabolic processGO:00067676.6HLCS, AMN, NAPRT1, MMACHC, ACACA, PC
7small molecule metabolic processGO:00442815.8HLCS, AMN, NAPRT1, MMACHC, ACACA, ACADM

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

idNameGO IDScoreTop Affiliating Genes
1biotin bindingGO:00093749.4PC, HLCS
2biotin carboxylase activityGO:00040759.2BTD, PC, ACACA
3cobalamin bindingGO:00314199.0CD320, MMACHC

Products for genes affiliated with Multiple Carboxylase Deficiency

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  • Antibodies
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Sources for Multiple Carboxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet