MCID: MLY001
MIFTS: 45

Molybdenum Cofactor Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Molybdenum Cofactor Deficiency

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Sources:
41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Molybdenum Cofactor Deficiency, Aliases & Descriptions:

Name: Molybdenum Cofactor Deficiency 41 20 21 43
Combined Molybdoflavoprotein Enzyme Deficiency 21 22 60
Mocod 41 21 47
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 41 21
 
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase 41 47
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 41 47
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 21
Deficiency of Molybdenum Cofactor 21


Classifications:



External Ids:

Orphanet47 99732
ICD10 via Orphanet26 E72.1

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 molybdoflavoprotein enzyme deficiency, is related to sulfite oxidase deficiency and xanthinuria. 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, eye and testes.

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

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
2 Combined Molybdoflavoprotein Enzyme Deficiency22

Anatomical Context for Molybdenum Cofactor Deficiency

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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

31
Brain, Eye, 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 87)
idTitleAuthorsYear
1
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. (25709896)
2015
2
Choice of anesthesia in molybdenum cofactor deficiency: A case report. (25657759)
2014
3
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. (24379235)
2014
4
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. (23250031)
2013
5
The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
2012
6
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
2012
7
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
8
Prenatal brain disruption in molybdenum cofactor deficiency. (21285035)
2011
9
Successful treatment of molybdenum cofactor deficiency type A with cPMP. (20385644)
2010
10
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. (20865336)
2010
11
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. (21187823)
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 as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
18
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. (15794186)
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
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. (12872846)
2003
22
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. (12732628)
2003
23
New insights into the neuropathogenesis of molybdenum cofactor deficiency. (11858544)
2002
24
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. (11746050)
2001
25
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (11095995)
2001
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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MOCS2, MOCS1
2
Show member pathways
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde36
NAD salvage36
NAD metabolism58
9.7AOX1, PNP
39.4MOCS3, MOCS1, MOCS2
4
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
9.2DPYD, PNP, XDH
5
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.2XDH, PNP, DPYD
6
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
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 Suite gene sharing:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1tungsten43 2411.2GPHN, SUOX
2isovanillin4310.2XDH, AOX1
35-hydroxypyrazinamide43 2411.2XDH, AOX1
4ipdr4310.2XDH, AOX1
5penciclovir4310.1AOX1, XDH
6famciclovir43 1211.1XDH, AOX1
7oxypurinol4310.1XDH, AOX1
8pyrazinamide43 49 1212.1AOX1, XDH
9febuxostat59 4311.1XDH, PNP
10mercaptopurine49 1211.0AOX1, XDH
11thiosulfate43 2411.0SUOX, MOCS3
12Uracil24 1210.9DPYD, PNP
13Hydrogen peroxide249.8AOX1, SUOX, XDH
14chloroform439.8XDH, TTR
15adenylosuccinate439.8PNP, DPYD
16pyrimidine nucleoside439.8PNP, DPYD
17strychnine43 2 2811.8GPHN, GLRA1
18s-sulfocysteine439.8SUOX, TTR, XDH
19copper43 2410.7AOX1, SUOX, GPHN
20didanosine43 49 1211.7PNP, XDH
21aristolochic acid43 210.7AOX1, XDH
22pterin43 2410.7MOCS2, SUOX, GPHN, XDH
23flavin-adenine dinucleotide43 1210.6AOX1, DPYD, XDH
24thiopurine439.6XDH, PNP, DPYD
25purine nucleoside439.6DPYD, PNP, XDH
26thymidylate439.5AOX1, DPYD, PNP
27adenine43 24 1211.5TTR, PNP, XDH
28sulfur439.5SUOX, MOCS3, MOCS2, AOX1
29sorafenib43 49 1211.4AOX1, SUOX, TTR, XDH
30FAD249.3AOX1, DPYD, XDH
31uric acid43 2410.3XDH, PNP, TTR, SUOX
326 mercaptopurine439.3XDH, DPYD
33azathioprine43 2 49 1212.2AOX1, DPYD, PNP, XDH
34sulfate43 2410.2SUOX, TPI1, PNP
35alpha tocopherol439.2XDH, TTR, TPI1
36folate439.2PNP, TTR, DPYD
37carbon439.0AOX1, TPI1, PNP
38moco439.0XDH, AOX1, MOCS2, MOCS1, SUOX, GPHN
39purine43 249.9XDH, PNP, SUOX, DPYD, AOX1
40superoxide43 249.9XDH, TPI1, SUOX, AOX1
41hydrogen43 249.9PNP, TPI1, SUOX, AOX1
42iron43 249.9XDH, TTR, SUOX, DPYD, AOX1
43guanine43 24 1210.8XDH, PNP, TTR, TPI1
44glyceraldehyde 3-phosphate438.7DPYD, TPI1, PNP
45xanthine43 249.6XDH, PNP, GPHN, SUOX, DPYD, AOX1
46molybdopterin43 249.5MOCS3, SUOX, GPHN, XDH, MOCS1, MOCS2
47lactate438.5XDH, PNP, TTR, TPI1, SUOX
48glutamate438.2PNP, GPHN, TTR, TPI1, GLRA1
49cysteine437.7XDH, PNP, TTR, TPI1, SUOX, DPYD
50molybdenum43 248.6AOX1, DPYD, MOCS2, MOCS1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1molybdopterin synthase complexGO:00190089.9MOCS2, MOCS1
2cytosolGO:00058296.6AOX1, XDH, PNP, TPI1, MOCS3, MOCS1

Biological processes related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1purine nucleobase metabolic processGO:00061449.7PNP, XDH
2purine nucleotide catabolic processGO:00061959.4PNP, XDH
3molybdopterin cofactor biosynthetic processGO:00323249.3GPHN, MOCS3, MOCS1, MOCS2
4Mo-molybdopterin cofactor biosynthetic processGO:00067779.2GPHN, MOCS3, MOCS1, MOCS2
5nucleobase-containing small molecule metabolic processGO:00550869.1DPYD, PNP, XDH
6water-soluble vitamin metabolic processGO:00067678.8AOX1, MOCS2, MOCS1, MOCS3, GPHN
7vitamin metabolic processGO:00067668.8GPHN, MOCS3, MOCS1, MOCS2, AOX1
8small molecule metabolic processGO:00442816.5AOX1, XDH, PNP, GPHN, TPI1, SUOX

Molecular functions related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1xanthine dehydrogenase activityGO:00048549.9AOX1, XDH
24 iron, 4 sulfur cluster bindingGO:00515399.7DPYD, MOCS1
3UDP-N-acetylmuramate dehydrogenase activityGO:00087629.7AOX1, XDH
4molybdopterin cofactor bindingGO:00435469.6AOX1, SUOX, XDH
52 iron, 2 sulfur cluster bindingGO:00515379.5AOX1, XDH
6electron carrier activityGO:00090559.4XDH, SUOX, AOX1
7flavin adenine dinucleotide bindingGO:00506609.3AOX1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet