MCD
MCID: MLT018
MIFTS: 48

Multiple Carboxylase Deficiency (MCD) malady

Skin diseases, Rare diseases categories
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Summaries for Multiple Carboxylase Deficiency

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8Disease Ontology, 65Wikipedia, 33MalaCards
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Fully expand this MalaCard
Wikipedia:65 Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation... more...

MalaCards: Multiple Carboxylase Deficiency, also known as macular corneal dystrophy type i, is related to biotinidase deficiency and holocarboxylase synthetase deficiency, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, anomalies of the immunitary system and autosomal recessive inheritance. 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:8 An amino acid metabolic disorder that involves failures of carboxylation enzymes.

Aliases & Classifications for Multiple Carboxylase Deficiency

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8Disease Ontology, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

49
multiple carboxylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

multiple carboxylase deficiency 8 10 45 49 62
macular corneal dystrophy type i 62
mcd 49


External Ids:

Disease Ontology8 DOID:857
MeSH35 D009100
MESH via Orphanet36 D009100
ICD10 via Orphanet26 E53.8
UMLS via Orphanet63 C0026755

Related Diseases for Multiple Carboxylase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Multiple Carboxylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency31.3HLCS, BTD
2holocarboxylase synthetase deficiency31.2HLCS, BTD
3lactic acidosis30.6BTD, PC
4dermatitis30.3BTD, HLCS
5multiple carboxylase deficiency, biotin responsive10.4
6biotin deficiency10.3
7alopecia10.3
8multiple carboxylase deficiency, propionic acidemia10.3
9malonyl-coa decarboxylase deficiency10.3
10diabetic ketoacidosis10.2
11psoriasis10.2
12generalized pustular psoriasis10.2
13focal segmental glomerulosclerosis10.1
14kaposi's sarcoma10.1
15nephrotic syndrome10.1
16sarcoma10.1
17citrullinemia10.1OTC
18medium-chain acyl-coenzyme a dehydrogenase deficiency10.1BTD, ACADM
19maple syrup urine disease10.1OTC, BTD
20propionic acidemia10.1OTC, HLCS
21hyperlysinemia10.1OTC, PC
22congenital hypothyroidism10.1ACADM, BTD
23congenital adrenal hyperplasia10.0BTD, ACADM
24organic acidemia10.0BTD, ACADM, HLCS
25hyperammonemia multi-gene panels10.0OTC, PC
26adrenoleukodystrophy10.0OTC
27phenylketonuria10.0OTC, BTD, ACADM
28metabolic acidosis10.0HLCS, PC, BTD
29glycogen storage disease10.0BTD, OTC
30reye syndrome10.0ACADM, PC, OTC
31fatty liver disease10.0PC, ACADM, ACACA
32cystic fibrosis10.0ACADM, BTD, OTC
33hypoglycemia10.0HLCS, ACADM, PC, BTD
34brain disease10.0OTC, BTD, PC, ACADM
35megaloblastic anemia10.0CD320, MMACHC
36methylmalonic acidemia10.0MMACHC, CD320
37macular corneal dystrophy10.0
38lipoid nephrosis10.0
39poems syndrome10.0
40schmid metaphyseal chondrodysplasia10.0
41kshv inflammatory cytokine syndrome10.0
42metaphyseal chondrodysplasia spahr type10.0
43multicentric castleman’s disease10.0
44cortical malformations, occipital10.0
45homocystinuria10.0OTC, BTD, MMACHC
46metabolic syndrome x10.0HLCS, ACADM, PC, BTD, OTC

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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Sources:
49Orphanet
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Symptoms:

49 (show all 17)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of the immunitary system
  • autosomal recessive inheritance
  • anomalies of eyes and vision
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • obnubilation/coma/lethargia/desorientation
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypotonia
  • anomalies of ear and hearing
  • hearing loss/hypoacusia/deafness
  • anomalies of skin, subcutaneous tissue and mucosae
  • hairy patch
  • cutaneous rash
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • hair and scalp anomalies
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis

Drugs & Therapeutics for Multiple Carboxylase Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Multiple Carboxylase Deficiency:

33
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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Sources:
52PubMed
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Articles related to Multiple Carboxylase Deficiency:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Gene mutation analyses in Chinese children with multiple carboxylase deficiency]. (19806568)
2009
2
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. (18845537)
2008
3
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (18429047)
2008
4
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
5
Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. (17274881)
2006
6
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. (14613969)
2004
7
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. (15456772)
2004
8
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. (15165201)
2004
9
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. (10068510)
1999
10
Multiple carboxylase deficiency]. (9492625)
1998
11
Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. (9645047)
1998
12
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. (9350481)
1997
13
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy. (9061576)
1997
14
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency. (8517616)
1993
15
Neonatal form of biotin-responsive multiple carboxylase deficiency. (1297821)
1992
16
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. (2501583)
1989
17
Biotin-responsive multiple carboxylase deficiency and immunodeficiency. (2663376)
1989
18
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. (3148068)
1988
19
Multiple carboxylase deficiency. (3284772)
1988
20
Multiple carboxylase deficiency due to deficiency of biotinidase. (3783319)
1986
21
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. (3920902)
1985
22
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency. (3930851)
1985
23
Prenatal treatment of multiple carboxylase deficiency. (3925857)
1985
24
Lipid metabolism in biotin-responsive multiple carboxylase deficiency. (2878112)
1985
25
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin. (6434862)
1984
26
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. (6141728)
1984
27
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. (6828095)
1983
28
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (6883721)
1983
29
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. (6886110)
1983
30
Biotinidase deficiency in juvenile multiple carboxylase deficiency. (6135890)
1983
31
Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (6848914)
1983
32
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. (6212592)
1982
33
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. (6799930)
1982
34
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. (6811711)
1982
35
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. (7102675)
1982
36
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. (6807281)
1982
37
Organic aciduria in neonatal multiple carboxylase deficiency. (6820414)
1982
38
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin. (6819258)
1982
39
Prenatal treatment of biotin responsive multiple carboxylase deficiency. (6123722)
1982
40
Protein-bound biotin: a consideration in multiple carboxylase deficiency. (6119473)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Multiple Carboxylase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1CHST6NM_021615.4(CHST6): c.521A> G (p.Lys174Arg)single nucleotide variantPathogenicrs28937877GRCh37Chr 16, 75513206: 75513206
2CHST6NM_021615.4(CHST6): c.609C> A (p.Asp203Glu)single nucleotide variantPathogenicrs28937878GRCh37Chr 16, 75513118: 75513118
3CHST6NM_021615.4(CHST6): c.599T> G (p.Leu200Arg)single nucleotide variantPathogenicrs28937879GRCh37Chr 16, 75513128: 75513128
4CHST6NM_021615.4(CHST6): c.304T> G (p.Cys102Gly)single nucleotide variantPathogenicrs121917822GRCh37Chr 16, 75513423: 75513423
5CHST6NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys)single nucleotide variantPathogenicrs72547544GRCh37Chr 16, 75513398: 75513398
6CHST6NM_021615.4(CHST6): c.827T> C (p.Leu276Pro)single nucleotide variantPathogenicrs121917824GRCh37Chr 16, 75512900: 75512900

Expression for genes affiliated with Multiple Carboxylase Deficiency

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Carboxylase Deficiency

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

Pathways for genes affiliated with Multiple Carboxylase Deficiency

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 51PharmGKB, 55Reactome
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Pathways related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9HLCS, BTD
2
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
9.7ACADM, ACACA
3
Show member pathways
mitochondrial L-carnitine shuttle pathway38
Saturated fatty acid biosynthesis60
9.7ACADM, ACACA
4
Show member pathways
Fatty Acid Biosynthesis38
9.6ACACA, PC
5
Show member pathways
methylglyoxal degradation VI38
methylglyoxal degradation I38
9.6PC, ACACA
69.4BTD, MMACHC
7
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.3OTC, PC, ACADM
86.5HLCS, AMN, NAPRT1, MMACHC, ACACA, PC
9
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
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:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1multivitamin4510.2BTD, HLCS
2acetyl-l-carnitine4510.0OTC, ACADM
3bamhi4510.0ACADM, OTC
4phenylacetic acid51 45 2412.0OTC, PC
5alpha lipoic acid459.9PC, BTD
6carbamoyl phosphate459.9OTC, PC
7citrulline45 2410.9PC, OTC
8malate459.8OTC, PC
9valproic acid45 51 24 1112.8OTC, BTD, ACADM
10glycerol 3-phosphate45 2410.8PC, ACACA
11s-adenosylmethionine45 24 1111.7HLCS, ACADM, PC
12phosphoenolpyruvate45 1110.7OTC, PC
13oleic acid45 29 24 1112.7ACADM, ACACA
14palmitate459.6ACACA, ACADM, PC
153-methylcrotonyl-coa45 2410.5HLCS, ACADM, PC, BTD
16hydroxocobalamin45 1110.5MMACHC, AMN
17cyanocobalamin51 24 1111.4MMACHC, AMN
18Phosphate249.4OTC, PC, ACACA
19glutamine459.4ACADM, PC, OTC
20biotin45 24 1111.4BTD, PC, ACACA, HLCS
21acetyl-coa45 2410.3HLCS, ACACA, ACADM, PC
22cobalamin45 2410.3MMACHC, CD320
23glycogen45 2410.3ACACA, PC, BTD, OTC
24pyruvate459.3OTC, PC, ACACA, HLCS
25lysine459.1HLCS, ACADM, PC, BTD, OTC
26leucine459.0OTC, ACACA, HLCS
27carnitine459.0HLCS, ACACA, ACADM, PC, OTC
28glucose458.9ACACA, ACADM, PC, BTD, OTC
29lipid458.8ACACA, ACADM, PC, OTC
30acyl-coa458.7OTC, BTD, PC, ACADM, ACACA, HLCS
31fatty acid458.7HLCS, ACACA, ACADM, PC, BTD, OTC
32lactate458.7HLCS, ACACA, ACADM, PC, BTD, OTC

GO Terms for genes affiliated with Multiple Carboxylase Deficiency

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Sources:
16Gene Ontology
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Cellular components related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.7ACADM, PC, BTD, OTC
2cytosolGO:0058297.9PC, ACACA, MMACHC, NAPRT1, HLCS
3mitochondrionGO:0057397.6OTC, PC, ACADM, ACACA, MMACHC, HLCS

Biological processes related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:0018899.8OTC, ACADM
2response to biotinGO:0707819.5OTC, HLCS
3biotin metabolic processGO:0067689.0HLCS, ACACA, PC, BTD
4cobalamin metabolic processGO:0092358.4CD320, MMACHC, AMN
5vitamin metabolic processGO:0067666.6CD320, HLCS, BTD, PC, ACACA, MMACHC
6water-soluble vitamin metabolic processGO:0067676.6HLCS, AMN, NAPRT1, MMACHC, ACACA, PC
7small molecule metabolic processGO:0442815.8HLCS, AMN, NAPRT1, MMACHC, ACACA, ACADM

Molecular functions related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1biotin bindingGO:0093749.4PC, HLCS
2biotin carboxylase activityGO:0040759.2BTD, PC, ACACA
3cobalamin bindingGO:0314199.0CD320, MMACHC

Products for genes affiliated with Multiple Carboxylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Carboxylase Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet