MOCOD
MCID: MLY001
MIFTS: 41

Molybdenum Cofactor Deficiency (MOCOD) malady

Genetic diseases, Rare diseases categories

Summaries for Molybdenum Cofactor Deficiency

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22Genetics Home Reference, 66Wikipedia, 34MalaCards
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Genetics Home Reference:22 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 sulfite oxidase deficiency 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 Nicotinate and nicotinamide metabolism. The compounds tungsten and isovanillin have been mentioned in the context of this disorder. Affiliated tissues include brain and testes.

Wikipedia:66 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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44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

molybdenum cofactor deficiency 44 21 22 46
combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase 44 22
combined molybdoflavoprotein enzyme deficiency 22 63
mocod 44 22
combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency 22
deficiency of molybdenum cofactor 22


Related Diseases for Molybdenum Cofactor Deficiency

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Molybdenum Cofactor Deficiency:



Diseases related to molybdenum cofactor deficiency

Symptoms for Molybdenum Cofactor Deficiency

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Drugs & Therapeutics for Molybdenum Cofactor Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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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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21GeneTests
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Genetic tests related to Molybdenum Cofactor Deficiency:

id Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency21 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency

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34MalaCards
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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

34
Brain, Testes

Animal Models for Molybdenum Cofactor Deficiency or affiliated genes

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Publications for Molybdenum Cofactor Deficiency

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53PubMed
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Articles related to Molybdenum Cofactor Deficiency:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. (24379235)
2014
2
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. (23250031)
2013
3
The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
2012
4
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
2012
5
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
6
Prenatal brain disruption in molybdenum cofactor deficiency. (21285035)
2011
7
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. (21031595)
2011
8
Successful treatment of molybdenum cofactor deficiency type A with cPMP. (20385644)
2010
9
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. (20865336)
2010
10
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. (21187823)
2010
11
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. (19538746)
2009
12
Molybdenum cofactor deficiency in a Malaysian child. (19907877)
2009
13
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. (18092812)
2008
14
Molybdenum cofactor deficiency: clinical features in a Turkish patient. (17158010)
2007
15
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. (17704913)
2007
16
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
17
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. (15794186)
2005
18
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. (15317939)
2004
19
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. (15115759)
2004
20
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. (12872846)
2003
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
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. (11746050)
2001
24
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (11095995)
2001
25
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers. (10701843)
2000
26
Diagnosis of molybdenum cofactor deficiency. (10030363)
1999
27
In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency. (10552066)
1999
28
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (10053004)
1999
29
Diagnosis of molybdenum cofactor deficiency. (10030364)
1999
30
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. (9634514)
1998
31
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (9921896)
1998
32
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (9731530)
1998
33
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant. (9459218)
1998
34
Hypouricemia and molybdenum-cofactor deficiency. (9003869)
1997
35
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. (8812740)
1996
36
Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. (8976115)
1996
37
CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. (8938304)
1996
38
Dextromethorphan in molybdenum cofactor deficiency. (8741046)
1996
39
Molybdenum-cofactor deficiency: CT and MR findings. (7791952)
1995
40
Molybdenum cofactor deficiency associated with Dandy-Walker malformation. (7623453)
1995
41
Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. (7474893)
1995
42
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. (8531042)
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
Short-term response to dietary therapy in molybdenum cofactor deficiency. (7694543)
1993
46
Molybdenum cofactor deficiency in two siblings: diagnostic difficulties. (8404970)
1993
47
The effect of molybdenum cofactor deficiency on the purine pattern of cerebrospinal fluid. (1770793)
1991
48
Biochemical investigation of a child with molybdenum cofactor deficiency. (2289312)
1990
49
Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase. (3219233)
1988
50
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. (3215199)
1988

Variations for Molybdenum Cofactor Deficiency

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Expression for genes affiliated with Molybdenum Cofactor Deficiency

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters
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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
Show member pathways
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde39
NAD salvage39
NAD metabolism61
9.7PNP, AOX1
39.4MOCS2, MOCS1, MOCS3
4
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
9.2DPYD, PNP, XDH
5
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
9.2DPYD, PNP, XDH
6
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
8.8GPHN, MOCS3, MOCS1, MOCS2, AOX1
78.3GPHN, TTR, AOX1, MOCS2, MOCS1, MOCS3
8
Show member pathways
6.3AOX1, DPYD, MOCS2, MOCS1, MOCS3, SUOX

Compounds for genes affiliated with Molybdenum Cofactor Deficiency

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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 3BitterDB, 30IUPHAR
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Compounds related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1tungsten46 2511.2GPHN, SUOX
2isovanillin4610.2XDH, AOX1
35-hydroxypyrazinamide46 2511.2XDH, AOX1
4ipdr4610.2XDH, AOX1
5penciclovir4610.1AOX1, XDH
6famciclovir46 1211.1XDH, AOX1
7oxypurinol4610.1XDH, AOX1
8pyrazinamide46 52 1212.1AOX1, XDH
9febuxostat62 4611.1XDH, PNP
10mercaptopurine52 1211.0AOX1, XDH
11thiosulfate46 2511.0SUOX, MOCS3
12Uracil25 1210.9DPYD, PNP
13Hydrogen peroxide259.8AOX1, SUOX, XDH
14chloroform469.8XDH, TTR
15adenylosuccinate469.8PNP, DPYD
16pyrimidine nucleoside469.8PNP, DPYD
17strychnine46 3 3011.8GPHN, GLRA1
18s-sulfocysteine469.8SUOX, TTR, XDH
19copper46 2510.7AOX1, SUOX, GPHN
20didanosine46 52 1211.7PNP, XDH
21aristolochic acid46 310.7AOX1, XDH
22pterin46 2510.7MOCS2, SUOX, GPHN, XDH
23flavin-adenine dinucleotide46 1210.6AOX1, DPYD, XDH
24thiopurine469.6XDH, PNP, DPYD
25purine nucleoside469.6DPYD, PNP, XDH
26thymidylate469.5AOX1, DPYD, PNP
27adenine46 25 1211.5TTR, PNP, XDH
28sulfur469.5SUOX, MOCS3, MOCS2, AOX1
29sorafenib46 52 1211.4AOX1, SUOX, TTR, XDH
30FAD259.3AOX1, DPYD, XDH
31uric acid46 2510.3XDH, PNP, TTR, SUOX
326 mercaptopurine469.3XDH, DPYD
33azathioprine46 3 52 1212.2AOX1, DPYD, PNP, XDH
34sulfate46 2510.2SUOX, TPI1, PNP
35alpha tocopherol469.2XDH, TTR, TPI1
36folate469.2PNP, TTR, DPYD
37carbon469.0AOX1, TPI1, PNP
38moco469.0XDH, AOX1, MOCS2, MOCS1, SUOX, GPHN
39purine46 259.9XDH, PNP, SUOX, DPYD, AOX1
40superoxide46 259.9XDH, TPI1, SUOX, AOX1
41hydrogen46 259.9PNP, TPI1, SUOX, AOX1
42iron46 259.9XDH, TTR, SUOX, DPYD, AOX1
43guanine46 25 1210.8XDH, PNP, TTR, TPI1
44glyceraldehyde 3-phosphate468.7DPYD, TPI1, PNP
45xanthine46 259.6XDH, PNP, GPHN, SUOX, DPYD, AOX1
46molybdopterin46 259.5MOCS3, SUOX, GPHN, XDH, MOCS1, MOCS2
47lactate468.5XDH, PNP, TTR, TPI1, SUOX
48glutamate468.2PNP, GPHN, TTR, TPI1, GLRA1
49cysteine467.7XDH, PNP, TTR, TPI1, SUOX, DPYD
50molybdenum46 258.6AOX1, DPYD, MOCS2, MOCS1, MOCS3, SUOX

GO Terms for genes affiliated with Molybdenum Cofactor Deficiency

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17Gene Ontology
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Cellular components related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1molybdopterin synthase complexGO:0190089.9MOCS2, MOCS1
2cytosolGO:0058296.6AOX1, XDH, PNP, TPI1, MOCS3, MOCS1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1purine nucleobase metabolic processGO:0061449.7XDH, PNP
2purine nucleotide catabolic processGO:0061959.4XDH, PNP
3molybdopterin cofactor biosynthetic processGO:0323249.3GPHN, MOCS3, MOCS1, MOCS2
4Mo-molybdopterin cofactor biosynthetic processGO:0067779.2MOCS3, MOCS1, MOCS2, GPHN
5nucleobase-containing small molecule metabolic processGO:0550869.1DPYD, PNP, XDH
6water-soluble vitamin metabolic processGO:0067678.8MOCS3, MOCS1, MOCS2, AOX1, GPHN
7vitamin metabolic processGO:0067668.8AOX1, MOCS2, MOCS1, GPHN, MOCS3
8small molecule metabolic processGO:0442816.5GPHN, PNP, AOX1, DPYD, MOCS2, MOCS1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1xanthine dehydrogenase activityGO:0048549.9AOX1, XDH
24 iron, 4 sulfur cluster bindingGO:0515399.7DPYD, MOCS1
3UDP-N-acetylmuramate dehydrogenase activityGO:0087629.7AOX1, XDH
4molybdopterin cofactor bindingGO:0435469.6SUOX, XDH, AOX1
52 iron, 2 sulfur cluster bindingGO:0515379.5AOX1, XDH
6electron carrier activityGO:0090559.4AOX1, XDH, SUOX
7flavin adenine dinucleotide bindingGO:0506609.3AOX1, XDH, DPYD

Products for genes affiliated with Molybdenum Cofactor Deficiency

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Sources for Molybdenum Cofactor Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
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