MOCOD
MCID: MLY001
MIFTS: 42

Molybdenum Cofactor Deficiency (MOCOD) malady

Genetic diseases, Rare diseases categories
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Summaries for Molybdenum Cofactor Deficiency

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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 based summary: 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:65 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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Molybdenum Cofactor Deficiency, Aliases & Descriptions:

Name: Molybdenum Cofactor Deficiency 42 20 21 44
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 42 21
Combined Molybdoflavoprotein Enzyme Deficiency 21 62
 
Deficiency of Molybdenum Cofactor 21 62
Mocod 42 21
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 21


Classifications:

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


Related Diseases for Molybdenum Cofactor Deficiency

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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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Drug clinical trials:

Search ClinicalTrials for Molybdenum Cofactor Deficiency

Search NIH Clinical Center for Molybdenum Cofactor Deficiency

Genetic Tests for Molybdenum Cofactor Deficiency

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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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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

32
Brain, Testes

Animal Models for Molybdenum Cofactor Deficiency or affiliated genes

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Publications for Molybdenum Cofactor Deficiency

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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
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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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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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 semialdehyde37
NAD salvage37
NAD metabolism60
9.7AOX1, PNP
39.4MOCS3, MOCS1, MOCS2
4
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
9.2DPYD, PNP, XDH
5
Show member pathways
purine deoxyribonucleosides degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
9.2XDH, PNP, DPYD
6
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
8.8GPHN, MOCS3, MOCS1, MOCS2, AOX1
78.3AOX1, MOCS2, MOCS1, MOCS3, TTR, GPHN
8
Show member pathways
6.3AOX1, XDH, PNP, GPHN, TPI1, SUOX

Compounds for genes affiliated with Molybdenum Cofactor Deficiency

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Compounds related to Molybdenum Cofactor Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1tungsten44 2411.2SUOX, GPHN
2isovanillin4410.2XDH, AOX1
3ipdr4410.2XDH, AOX1
45-hydroxypyrazinamide44 2411.2AOX1, XDH
5penciclovir4410.1AOX1, XDH
6oxypurinol4410.1XDH, AOX1
7famciclovir44 1111.1AOX1, XDH
8pyrazinamide44 50 1112.1XDH, AOX1
9febuxostat61 4411.1PNP, XDH
10mercaptopurine50 1111.0XDH, AOX1
11thiosulfate44 2411.0SUOX, MOCS3
12Uracil24 1110.9PNP, DPYD
13Hydrogen peroxide249.8XDH, SUOX, AOX1
14chloroform449.8XDH, TTR
15pyrimidine nucleoside449.8PNP, DPYD
16adenylosuccinate449.8PNP, DPYD
17strychnine44 2 2811.8GLRA1, GPHN
18s-sulfocysteine449.8SUOX, XDH, TTR
19copper44 2410.7AOX1, SUOX, GPHN
20didanosine44 50 1111.7XDH, PNP
21aristolochic acid44 210.7AOX1, XDH
22pterin44 2410.7GPHN, MOCS2, SUOX, XDH
23flavin-adenine dinucleotide44 1110.6AOX1, DPYD, XDH
24thiopurine449.6PNP, XDH, DPYD
25purine nucleoside449.6PNP, DPYD, XDH
26thymidylate449.5AOX1, DPYD, PNP
27adenine44 24 1111.5TTR, PNP, XDH
28sulfur449.5MOCS2, AOX1, SUOX, MOCS3
29sorafenib44 50 1111.4TTR, SUOX, AOX1, XDH
30FAD249.3DPYD, XDH, AOX1
31uric acid44 2410.3XDH, PNP, SUOX, TTR
326 mercaptopurine449.3XDH, DPYD
33azathioprine44 2 50 1112.2AOX1, DPYD, XDH, PNP
34sulfate44 2410.2PNP, TPI1, SUOX
35alpha tocopherol449.2XDH, TTR, TPI1
36folate449.2PNP, TTR, DPYD
37carbon449.0PNP, AOX1, TPI1
38moco449.0MOCS1, XDH, GPHN, SUOX, AOX1, MOCS2
39purine44 249.9PNP, XDH, SUOX, DPYD, AOX1
40superoxide44 249.9AOX1, XDH, TPI1, SUOX
41hydrogen44 249.9AOX1, SUOX, TPI1, PNP
42iron44 249.9DPYD, AOX1, SUOX, TTR, XDH
43guanine44 24 1110.8TPI1, TTR, PNP, XDH
44glyceraldehyde 3-phosphate448.7PNP, TPI1, DPYD
45xanthine44 249.6SUOX, PNP, DPYD, AOX1, XDH, GPHN
46molybdopterin44 249.5GPHN, MOCS3, MOCS1, MOCS2, AOX1, SUOX
47lactate448.5PNP, SUOX, XDH, TTR, TPI1
48glutamate448.2GLRA1, TPI1, TTR, GPHN, PNP
49cysteine447.7PNP, XDH, TTR, TPI1, AOX1, SUOX
50molybdenum44 248.6GPHN, PNP, XDH, MOCS2, MOCS3, SUOX

GO Terms for genes affiliated with Molybdenum Cofactor Deficiency

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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:0435469.6AOX1, SUOX, XDH
52 iron, 2 sulfur cluster bindingGO:0515379.5AOX1, XDH
6electron carrier activityGO:0090559.4XDH, SUOX, AOX1
7flavin adenine dinucleotide bindingGO:0506609.3AOX1, DPYD, XDH

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet