MOCOD
MCID: MLY001
MIFTS: 31

Molybdenum Cofactor Deficiency (MOCOD) malady

Summaries for Molybdenum Cofactor Deficiency

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21Genetics Home Reference, 63Wikipedia, 32MalaCards
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Genetics Home Reference:21 Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."

MalaCards: Molybdenum Cofactor Deficiency, also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, is related to hyperekplexia and xanthinuria type 1. An important gene associated with Molybdenum Cofactor Deficiency is MOCS2 (molybdenum cofactor synthesis 2), and among its related pathways are Folate biosynthesis and Molybdenum cofactor biosynthesis. The compounds tungsten and isovanillin have been mentioned in the context of this disorder. Affiliated tissues include brain.

Wikipedia:63 Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads... more...

Aliases & Classifications for Molybdenum Cofactor Deficiency

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42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 60UMLS
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Aliases & Descriptions:

molybdenum cofactor deficiency 42 20 21 44
combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase 42 21
combined molybdoflavoprotein enzyme deficiency 21 60
mocod 42 21
combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency 21
deficiency of molybdenum cofactor 21


Related Diseases for Molybdenum Cofactor Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Molybdenum Cofactor Deficiency:



Diseases related to molybdenum cofactor deficiency

Clinical Features for Molybdenum Cofactor Deficiency

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Drugs & Therapeutics for Molybdenum Cofactor Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Molybdenum Cofactor Deficiency

Drug clinical trials:

Search ClinicalTrials for Molybdenum Cofactor Deficiency

Search NIH Clinical Center for Molybdenum Cofactor Deficiency

Search CenterWatch for Molybdenum Cofactor Deficiency

Genetic Tests for Molybdenum Cofactor Deficiency

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20GeneTests
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Genetic tests related to Molybdenum Cofactor Deficiency:

id Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency20 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency

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32MalaCards
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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

32
Brain

Animal Models for Molybdenum Cofactor Deficiency or affiliated genes

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Publications for Molybdenum Cofactor Deficiency

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Genetic Variations for Molybdenum Cofactor Deficiency

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Expression for genes affiliated with Molybdenum Cofactor Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Molybdenum Cofactor Deficiency

Search GEO for disease gene expression data for Molybdenum Cofactor Deficiency.

Pathways for genes affiliated with Molybdenum Cofactor Deficiency

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29KEGG, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MOCS2, MOCS1
2
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9.4MOCS3, MOCS2, MOCS1
3
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9.2PNP, DPYD, XDH
4
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9.2PNP, DPYD, XDH
5
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8.8TPI1, SUOX, PNP, GPHN
6
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8.8GPHN, AOX1, MOCS1, MOCS2, MOCS3
7
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8.2MOCS3, MOCS2, MOCS1, AOX1, XDH, DPYD

Compounds for genes affiliated with Molybdenum Cofactor Deficiency

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB, 28IUPHAR
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Compounds related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1tungsten44 2411.2SUOX, GPHN
2isovanillin4410.2AOX1, XDH
3ipdr4410.2AOX1, XDH
45-hydroxypyrazinamide44 2411.2AOX1, XDH
5penciclovir4410.2XDH, AOX1
6famciclovir44 1111.1AOX1, XDH
7oxypurinol4410.1XDH, AOX1
8pyrazinamide44 49 1112.1XDH, AOX1
9mercaptopurine49 1111.1XDH, AOX1
10febuxostat59 4411.1PNP, XDH
11thiosulfate44 2411.0SUOX, MOCS3
12aristolochic acid44 210.9XDH, AOX1
13Uracil11 2410.9PNP, DPYD
14chloroform449.9TTR, XDH
15pyrimidine nucleoside449.9DPYD, PNP
16adenylosuccinate449.8PNP, DPYD
17s-sulfocysteine449.8SUOX, XDH, TTR
18copper44 2410.7SUOX, GPHN, AOX1
19pterin44 2410.7XDH, SUOX, GPHN, MOCS2
206 mercaptopurine449.6DPYD, XDH
21flavin-adenine dinucleotide44 1110.6AOX1, XDH, DPYD
22strychnine44 2 2811.6GPHN, GLRA1
23thiopurine449.6XDH, DPYD, PNP
24purine nucleoside449.6XDH, PNP, DPYD
25deoxyuridine44 2410.5DPYD, PNP
26azathioprine44 49 2 1112.5PNP, DPYD, XDH
27thymidylate449.5DPYD, AOX1, PNP
28hydrogen44 2410.5SUOX, AOX1, TPI1
29adenine44 11 2411.5PNP, TTR, XDH
30sulfur449.5MOCS3, MOCS2, AOX1, SUOX
31prpp449.4DPYD, PNP
32sulfate44 2410.4PNP, SUOX, TPI1
33sorafenib44 49 1111.4TTR, AOX1, SUOX, XDH
34alpha tocopherol449.4TPI1, TTR, XDH
35uric acid44 2410.3PNP, XDH, TTR, SUOX
36carbon449.2TPI1, PNP, AOX1
37folate449.2TTR, DPYD, PNP
38superoxide44 2410.1SUOX, AOX1, XDH, TPI1
39moco449.0SUOX, MOCS1, GPHN, XDH, AOX1, MOCS2
40guanine44 11 2411.0TPI1, XDH, TTR, PNP
41purine44 249.9XDH, DPYD, PNP, SUOX, AOX1
42glyceraldehyde 3-phosphate448.9DPYD, PNP, TPI1
43iron44 249.9TTR, DPYD, AOX1, XDH, SUOX
44beta-alanine44 59 11 2411.8DPYD, GLRA1
45lactate448.7TPI1, SUOX, XDH, PNP, TTR
46xanthine44 249.6PNP, GPHN, XDH, DPYD, AOX1, SUOX
47molybdopterin44 249.5MOCS3, MOCS2, SUOX, GPHN, XDH, AOX1
48glutamate448.2GPHN, GLRA1, TTR, PNP, TPI1
49cysteine447.9TTR, AOX1, XDH, TPI1, PNP, SUOX
50molybdenum44 248.6GPHN, DPYD, MOCS3, MOCS1, AOX1, XDH

GO Terms for genes affiliated with Molybdenum Cofactor Deficiency

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16Gene Ontology
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Cellular components related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1molybdopterin synthase complexGO:0190089.6MOCS1, MOCS2
2cytosolGO:0058297.1MOCS2, MOCS1, AOX1, XDH, DPYD, PNP

Biological processes related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1purine nucleobase metabolic processGO:0061449.7PNP, XDH
2purine nucleotide catabolic processGO:0061959.4PNP, XDH
3molybdopterin cofactor biosynthetic processGO:0323249.3GPHN, MOCS1, MOCS2, MOCS3
4Mo-molybdopterin cofactor biosynthetic processGO:0067779.3MOCS3, MOCS2, MOCS1, GPHN
5nucleobase-containing small molecule metabolic processGO:0550869.1PNP, DPYD, XDH
6water-soluble vitamin metabolic processGO:0067678.8MOCS3, MOCS2, MOCS1, AOX1, GPHN
7vitamin metabolic processGO:0067668.8MOCS3, MOCS2, MOCS1, AOX1, GPHN
8small molecule metabolic processGO:0442816.6MOCS3, MOCS2, MOCS1, AOX1, XDH, DPYD

Molecular functions related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1xanthine dehydrogenase activityGO:0048549.9XDH, AOX1
2UDP-N-acetylmuramate dehydrogenase activityGO:0087629.8AOX1, XDH
34 iron, 4 sulfur cluster bindingGO:0515399.7DPYD, MOCS1
42 iron, 2 sulfur cluster bindingGO:0515379.7AOX1, XDH
5molybdopterin cofactor bindingGO:0435469.6SUOX, XDH, AOX1
6transferase activityGO:0167409.6GPHN, MOCS2
7electron carrier activityGO:0090559.4SUOX, XDH, AOX1
8flavin adenine dinucleotide bindingGO:0506609.3DPYD, XDH, AOX1

Products for genes affiliated with Molybdenum Cofactor Deficiency

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Sources for Molybdenum Cofactor Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet