MOCOD
MCID: MLY001
MIFTS: 34

Molybdenum Cofactor Deficiency (MOCOD) malady

Summaries for Molybdenum Cofactor Deficiency

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64Wikipedia, 33MalaCards
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Wikipedia:64 Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads... more...

MalaCards: Molybdenum Cofactor Deficiency, also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, is related to sulfite oxidase deficiency and hyperekplexia. 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 ipdr have been mentioned in the context of this disorder. Affiliated tissues include brain.

Aliases & Classifications for Molybdenum Cofactor Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 45Novoseek, 61UMLS
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Aliases & Descriptions:

molybdenum cofactor deficiency 43 20 45
combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase 43
combined molybdoflavoprotein enzyme deficiency 61
mocod 43


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

Drugs & Therapeutics for Molybdenum Cofactor Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

33
Brain

Animal Models for Molybdenum Cofactor Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Molybdenum Cofactor Deficiency

Sources:
51PubMed
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Articles related to Molybdenum Cofactor Deficiency:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. (24379235)
2014
2
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). (23122324)
2013
3
Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome. (23436702)
2013
4
The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
2012
5
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
2012
6
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. (22759696)
2012
7
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. (23430915)
2012
8
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. (21031595)
2011
9
Timing of cerebral developmental disruption in molybdenum cofactor deficiency. (21775622)
2011
10
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. (21187823)
2010
11
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. (20573177)
2010
12
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. (19538746)
2009
13
Molybdenum cofactor deficiency in a Malaysian child. (19907877)
2009
14
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. (18092812)
2008
15
Molybdenum cofactor deficiency: clinical features in a Turkish patient. (17158010)
2007
16
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. (17704913)
2007
17
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. (15794186)
2005
18
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. (15862276)
2005
19
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. (15317939)
2004
20
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. (15115759)
2004
21
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. (12732628)
2003
22
New insights into the neuropathogenesis of molybdenum cofactor deficiency. (11858544)
2002
23
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (11095995)
2001
24
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers. (10701843)
2000
25
Detection by mass spectrometry of highly increased amount of S-sulfonated transthyretin in serum from a patient with molybdenum cofactor deficiency. (10759156)
2000
26
Genetics of molybdenum cofactor deficiency. (10746556)
2000
27
Insights into molybdenum cofactor deficiency provided by the crystal structure of the molybdenum cofactor biosynthesis protein MoaC. (10903949)
2000
28
Clinical quiz. Molybdenum cofactor deficiency. (11045402)
2000
29
Diagnosis of molybdenum cofactor deficiency. (10030363)
1999
30
In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency. (10552066)
1999
31
Diagnosis of molybdenum cofactor deficiency. (10030364)
1999
32
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (9921896)
1998
33
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (9731530)
1998
34
Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. (9686674)
1998
35
Hypouricemia and molybdenum-cofactor deficiency. (9003869)
1997
36
Spherophakia associated with molybdenum cofactor deficiency. (9415683)
1997
37
CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. (8938304)
1996
38
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor. (8892030)
1996
39
Molybdenum-cofactor deficiency: CT and MR findings. (7791952)
1995
40
Molybdenum cofactor deficiency associated with Dandy-Walker malformation. (7623453)
1995
41
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. (8531042)
1995
42
Positive interference from homocystinuria urine in a spot test for molybdenum cofactor deficiency. (7600694)
1995
43
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. (7660932)
1994
44
The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile. (8051926)
1994
45
Human molybdenum cofactor deficiency. (8304141)
1993
46
Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions. (8355818)
1993
47
Molybdenum cofactor deficiency. (8410516)
1993
48
The effect of molybdenum cofactor deficiency on the purine pattern of cerebrospinal fluid. (1770793)
1991
49
Biochemical investigation of a child with molybdenum cofactor deficiency. (2289312)
1990
50
Antenatal diagnosis of molybdenum cofactor deficiency. (2220930)
1990

Genetic Variations for Molybdenum Cofactor Deficiency

Expression for genes affiliated with Molybdenum Cofactor Deficiency

Sources:
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

Sources:
30KEGG, 54Reactome, 38NCBI 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
19.9MOCS1, MOCS2
2
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9.4MOCS2, MOCS3, MOCS1
3
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9.2DPYD, XDH, PNP
4
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9.2XDH, DPYD, PNP
5
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8.8GPHN, PNP, SUOX, TPI1
6
Hide members
8.8AOX1, MOCS3, MOCS2, MOCS1, GPHN
7
Hide members
8.2DPYD, XDH, MOCS3, AOX1, MOCS1, MOCS2

Compounds for genes affiliated with Molybdenum Cofactor Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 2BitterDB, 29IUPHAR
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Compounds related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1tungsten45 2411.2GPHN, SUOX
2ipdr4510.2AOX1, XDH
3isovanillin4510.2AOX1, XDH
45-hydroxypyrazinamide45 2411.2AOX1, XDH
5penciclovir4510.2XDH, AOX1
6famciclovir45 1111.1AOX1, XDH
7oxypurinol4510.1AOX1, XDH
8pyrazinamide45 50 1112.1AOX1, XDH
9mercaptopurine50 1111.1XDH, AOX1
10febuxostat60 4511.1PNP, XDH
11thiosulfate45 2411.0MOCS3, SUOX
12aristolochic acid45 210.9XDH, AOX1
13Uracil11 2410.9PNP, DPYD
14chloroform459.9TTR, XDH
15pyrimidine nucleoside459.9DPYD, PNP
16adenylosuccinate459.8DPYD, PNP
17s-sulfocysteine459.8XDH, TTR, SUOX
18copper45 2410.7AOX1, GPHN, SUOX
19pterin45 2410.7SUOX, GPHN, XDH, MOCS2
206 mercaptopurine459.6XDH, DPYD
21flavin-adenine dinucleotide45 1110.6AOX1, XDH, DPYD
22strychnine45 2 2911.6GPHN, GLRA1
23thiopurine459.6XDH, DPYD, PNP
24purine nucleoside459.6PNP, DPYD, XDH
25prpp459.5PNP, DPYD
26azathioprine45 50 2 1112.5PNP, DPYD, XDH
27thymidylate459.5AOX1, DPYD, PNP
28hydrogen45 2410.5AOX1, SUOX, TPI1
29adenine45 11 2411.5PNP, TTR, XDH
30sulfur459.5MOCS3, MOCS2, AOX1, SUOX
31deoxyuridine45 2410.4PNP, DPYD
32sulfate45 2410.4TPI1, SUOX, PNP
33sorafenib45 50 1111.4SUOX, TTR, XDH, AOX1
34alpha tocopherol459.4TPI1, TTR, XDH
35uric acid45 2410.3SUOX, PNP, TTR, XDH
36carbon459.2AOX1, PNP, TPI1
37folate459.2PNP, TTR, DPYD
38superoxide45 2410.1AOX1, XDH, SUOX, TPI1
39moco459.0MOCS2, SUOX, GPHN, XDH, AOX1, MOCS1
40guanine45 11 2411.0XDH, TTR, PNP, TPI1
41purine45 249.9SUOX, PNP, DPYD, XDH, AOX1
42glyceraldehyde 3-phosphate458.9TPI1, PNP, DPYD
43iron45 249.9SUOX, TTR, DPYD, XDH, AOX1
44beta-alanine45 60 11 2411.8DPYD, GLRA1
45lactate458.7XDH, TTR, PNP, SUOX, TPI1
46xanthine45 249.6AOX1, XDH, DPYD, GPHN, PNP, SUOX
47molybdopterin45 249.5AOX1, MOCS1, MOCS2, MOCS3, XDH, GPHN
48glutamate458.2GLRA1, GPHN, TTR, PNP, TPI1
49cysteine457.9AOX1, XDH, DPYD, TTR, PNP, SUOX
50molybdenum45 248.6SUOX, PNP, GPHN, DPYD, XDH, AOX1

GO Terms for genes affiliated with Molybdenum Cofactor Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1molybdopterin synthase complexGO:0190089.6MOCS2, MOCS1
2cytosolGO:0058297.1MOCS3, MOCS2, MOCS1, AOX1, XDH, DPYD

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet