MCID: MLY001
MIFTS: 41

Molybdenum Cofactor Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Molybdenum Cofactor Deficiency

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Aliases & Descriptions for Molybdenum Cofactor Deficiency:

Name: Molybdenum Cofactor Deficiency 45 22 23 47
Combined Molybdoflavoprotein Enzyme Deficiency 23 24 65
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 45 23
 
Deficiency of Molybdenum Cofactor 23 24
Mocod 45 23
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 23

Classifications:



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UMLS65 C0268119

Summaries for Molybdenum Cofactor Deficiency

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Genetics Home Reference:23 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 xanthinuria, type i and molybdenum cofactor deficiency a, and has symptoms including convulsion in childhood, convulsion in childhood and seizures, focal. An important gene associated with Molybdenum Cofactor Deficiency is MOCS2 (Molybdenum Cofactor Synthesis 2), and among its related pathways are Folate biosynthesis and Sulfur relay system. Affiliated tissues include brain, t cells and endothelial.

Wikipedia:68 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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UMLS symptoms related to Molybdenum Cofactor Deficiency:


convulsion in childhood, seizures, focal, myoclonus, eyelid, seizures, tonic, epileptic aura, seizures

Drugs & Therapeutics for Molybdenum Cofactor Deficiency

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Drugs for Molybdenum Cofactor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MolybdenumPhase 2, Phase 3, Phase 1257439-98-7185498
Synonyms:
Mo
Molybdaen
Molybdene
 
Molybdenum atom
Molybdenum elemental
Molybdenum insoluble compounds
Molybdenum metallic
2Trace ElementsPhase 2, Phase 33900
3MicronutrientsPhase 2, Phase 33901

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of ALXN1101 in Neonates With Molybdenum Cofactor Deficiency (MOCD) Type ARecruitingNCT02629393Phase 2, Phase 3
2Safety & Efficacy Study of ALXN1101 in Pediatric Patients With MoCD Type A Currently Treated With rcPMPActive, not recruitingNCT02047461Phase 2
3Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type AWithdrawnNCT00957749Phase 1, Phase 2
4Phase 1 Single Dose Study of ALXN1101 in Healthy VolunteersCompletedNCT01894165Phase 1
5A Retrospective, Observational, Noninterventional Data Collection Study for Patients With Molybdenum Cofactor Deficiency Who Have Been Previously Treated With Cyclic Pyranopterin Monophosphate (cPMP)CompletedNCT01640717
6A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase DeficienciesActive, not recruitingNCT01735188

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 Deficiency22 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency

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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

33
Brain, T cells, Endothelial, Heart, Breast, Neutrophil, Temporal lobe

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 94)
idTitleAuthorsYear
1
Molybdenum cofactor deficiency. (26653176)
2016
2
Molybdenum cofactor deficiency causes translucent integument, male-biased lethality, and flaccid paralysis in the silkworm Bombyx mori. (27041280)
2016
3
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. (27138983)
2016
4
Child Neurology: Molybdenum cofactor deficiency. (26644055)
2015
5
Treatments for rare diseases: molybdenum cofactor deficiency. (26343841)
2015
6
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. (25764214)
2015
7
Choice of anesthesia in molybdenum cofactor deficiency: A case report. (25657759)
2014
8
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. (24379235)
2014
9
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. (23250031)
2013
10
The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
2012
11
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
2012
12
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
13
Prenatal brain disruption in molybdenum cofactor deficiency. (21285035)
2011
14
Successful treatment of molybdenum cofactor deficiency type A with cPMP. (20385644)
2010
15
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. (20865336)
2010
16
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. (21187823)
2010
17
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. (19538746)
2009
18
Molybdenum cofactor deficiency in a Malaysian child. (19907877)
2009
19
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. (18092812)
2008
20
Molybdenum cofactor deficiency: clinical features in a Turkish patient. (17158010)
2007
21
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. (17704913)
2007
22
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
23
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. (15794186)
2005
24
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. (15317939)
2004
25
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. (15115759)
2004
26
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. (12872846)
2003
27
New insights into the neuropathogenesis of molybdenum cofactor deficiency. (11858544)
2002
28
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. (11746050)
2001
29
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (11095995)
2001
30
Diagnosis of molybdenum cofactor deficiency. (10030363)
1999
31
In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency. (10552066)
1999
32
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (10053004)
1999
33
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. (9634514)
1998
34
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (9921896)
1998
35
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (9731530)
1998
36
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant. (9459218)
1998
37
Hypouricemia and molybdenum-cofactor deficiency. (9003869)
1997
38
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. (8812740)
1996
39
Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. (8976115)
1996
40
CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. (8938304)
1996
41
Dextromethorphan in molybdenum cofactor deficiency. (8741046)
1996
42
Molybdenum-cofactor deficiency: CT and MR findings. (7791952)
1995
43
Molybdenum cofactor deficiency associated with Dandy-Walker malformation. (7623453)
1995
44
Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. (7474893)
1995
45
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. (7660932)
1994
46
The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile. (8051926)
1994
47
Short-term response to dietary therapy in molybdenum cofactor deficiency. (7694543)
1993
48
Molybdenum cofactor deficiency in two siblings: diagnostic difficulties. (8404970)
1993
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 pathwaysScoreTop Affiliating Genes
19.9MOCS1, MOCS2
29.4MOCS1, MOCS2, MOCS3
3
Show member pathways
8.8DPYD, PNP, XDH
4
Show member pathways
8.1AOX1, GPHN, MOCS1, MOCS2, MOCS3, TTR
5
Show member pathways
5.7AOX1, DPYD, GPHN, MOCS1, MOCS2, MOCS3

GO Terms for genes affiliated with Molybdenum Cofactor Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1molybdopterin cofactor biosynthetic processGO:003232410.4MOCS1, MOCS3
2xanthine catabolic processGO:000911510.1AOX1, XDH
3purine nucleobase metabolic processGO:00061449.9PNP, XDH
4small molecule metabolic processGO:00442818.6DPYD, MOCS1, TPI1, XDH

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

idNameGO IDScoreTop Affiliating Genes
1iron-sulfur cluster bindingGO:005153610.1AOX1, MOCS1
2molybdopterin cofactor bindingGO:00435469.8AOX1, SUOX
3flavin adenine dinucleotide bindingGO:00506609.8AOX1, XDH

Sources for Molybdenum Cofactor Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet