MCID: MLY001
MIFTS: 40

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 46 23 24 48
Combined Molybdoflavoprotein Enzyme Deficiency 24 25 66
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 46 24
 
Deficiency of Molybdenum Cofactor 24 25
Mocod 46 24
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 24

Classifications:



Summaries for Molybdenum Cofactor Deficiency

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Genetics Home Reference:24 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 seizures, seizures and epileptic aura. 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 and testes.

Wikipedia:69 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:


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

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 1287439-98-7185498
Synonyms:
Mo
Molybdaen
Molybdene
 
Molybdenum atom
Molybdenum elemental
Molybdenum insoluble compounds
Molybdenum metallic

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 DeficienciesCompletedNCT01735188

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 Combined Molybdoflavoprotein Enzyme Deficiency25
2 Molybdenum Cofactor Deficiency25 23 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency

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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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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
Treatments for rare diseases: molybdenum cofactor deficiency. (26343841)
2015
4
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. (23250031)
2013
5
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). (23122324)
2013
6
The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
2012
7
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
2012
8
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. (22759696)
2012
9
Prenatal brain disruption in molybdenum cofactor deficiency. (21285035)
2011
10
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. (21031595)
2011
11
Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. (21907887)
2011
12
Timing of cerebral developmental disruption in molybdenum cofactor deficiency. (21775622)
2011
13
A GPHN point mutation leading to molybdenum cofactor deficiency. (22040219)
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
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. (20573177)
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
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
20
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. (15794186)
2005
21
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. (15317939)
2004
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
Molybdenum cofactor deficiency associated with Dandy-Walker complex. (11720800)
2001
25
Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. (11332461)
2001
26
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers. (10701843)
2000
27
Genetics of molybdenum cofactor deficiency. (10746556)
2000
28
Insights into molybdenum cofactor deficiency provided by the crystal structure of the molybdenum cofactor biosynthesis protein MoaC. (10903949)
2000
29
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (10053004)
1999
30
Diagnosis of molybdenum cofactor deficiency. (10030364)
1999
31
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency. (10518287)
1999
32
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. (9634514)
1998
33
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (9921896)
1998
34
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (9731530)
1998
35
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant. (9459218)
1998
36
Ahomocysteinemia in molybdenum cofactor deficiency. (9748040)
1998
37
Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. (9686674)
1998
38
Hypouricemia and molybdenum-cofactor deficiency. (9003869)
1997
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
Molybdenum cofactor deficiency associated with Dandy-Walker malformation. (7623453)
1995
42
Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. (7474893)
1995
43
Short-term response to dietary therapy in molybdenum cofactor deficiency. (7694543)
1993
44
Molybdenum cofactor deficiency in two siblings: diagnostic difficulties. (8404970)
1993
45
Molybdenum cofactor deficiency can mimic postanoxic encephalopathy. (8295412)
1993
46
Molybdenum cofactor deficiency. (8410516)
1993
47
The effect of molybdenum cofactor deficiency on the purine pattern of cerebrospinal fluid. (1770793)
1991
48
Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase. (3219233)
1988
49
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. (3215199)
1988
50
Molybdenum cofactor deficiency: another inborn error of metabolism with neonatal onset. (3405694)
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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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:001900810.6MOCS1, MOCS2
2cytosolGO:00058297.3AOX1, MOCS1, MOCS2, MOCS3, SUOX, TPI1

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

idNameGO IDScoreTop Affiliating Genes
1xanthine catabolic processGO:00091159.6AOX1, XDH
2molybdopterin cofactor biosynthetic processGO:00323248.9GPHN, MOCS1, MOCS2, MOCS3
3Mo-molybdopterin cofactor biosynthetic processGO:00067778.8GPHN, MOCS1, MOCS2, MOCS3

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

idNameGO IDScoreTop Affiliating Genes
1xanthine dehydrogenase activityGO:000485410.0AOX1, XDH
22 iron, 2 sulfur cluster bindingGO:00515379.9AOX1, XDH
3oxidoreductase activity, acting on CH-OH group of donorsGO:00166149.7AOX1, XDH
4flavin adenine dinucleotide bindingGO:00506609.6AOX1, XDH
5molybdopterin cofactor bindingGO:00435469.5AOX1, SUOX, XDH
6electron carrier activityGO:00090559.3AOX1, XDH

Sources for Molybdenum Cofactor Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet