MOCOD
MCID: MLY001
MIFTS: 38

Molybdenum Cofactor Deficiency (MOCOD) 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 48 24 25 50
Combined Molybdoflavoprotein Enzyme Deficiency 25 27 68
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 48 25
 
Deficiency of Molybdenum Cofactor 25 27
Mocod 48 25
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 25

Classifications:



Summaries for Molybdenum Cofactor Deficiency

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Genetics Home Reference:25 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 molybdenum cofactor deficiency a and molybdenum cofactor deficiency c. An important gene associated with Molybdenum Cofactor Deficiency is MOCS2 (Molybdenum Cofactor Synthesis 2), and among its related pathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and Effects of Nitric Oxide. Affiliated tissues include brain and testes.

Wikipedia:71 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 & Phenotypes for Molybdenum Cofactor Deficiency

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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
1Trace ElementsPhase 2, Phase 3, Phase 16001
2
MolybdenumPhase 2, Phase 3, Phase 1297439-98-7185498
Synonyms:
Mo
Molybdaen
Molybdene
 
Molybdenum atom
Molybdenum elemental
Molybdenum insoluble compounds
Molybdenum metallic
3MicronutrientsPhase 2, Phase 3, Phase 16001

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 Deficiency27
2 Molybdenum Cofactor Deficiency27 24 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency

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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

36
Brain, Testes

Publications for Molybdenum Cofactor Deficiency

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Articles related to Molybdenum Cofactor Deficiency:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. (27138983)
2016
2
Molybdenum cofactor deficiency causes translucent integument, male-biased lethality, and flaccid paralysis in the silkworm Bombyx mori. (27041280)
2016
3
Molybdenum cofactor deficiency. (26653176)
2016
4
Treatments for rare diseases: molybdenum cofactor deficiency. (26343841)
2015
5
Child Neurology: Molybdenum cofactor deficiency. (26644055)
2015
6
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. (25764214)
2015
7
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. (25709896)
2015
8
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. (26343839)
2015
9
Choice of anesthesia in molybdenum cofactor deficiency: A case report. (25657759)
2014
10
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. (24379235)
2014
11
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). (23122324)
2013
12
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. (23250031)
2013
13
Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine. (23392866)
2013
14
Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome. (23436702)
2013
15
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. (23430915)
2012
16
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
2012
17
The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
2012
18
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. (22759696)
2012
19
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
20
A GPHN point mutation leading to molybdenum cofactor deficiency. (22040219)
2011
21
Timing of cerebral developmental disruption in molybdenum cofactor deficiency. (21775622)
2011
22
Prenatal brain disruption in molybdenum cofactor deficiency. (21285035)
2011
23
Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. (21907887)
2011
24
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. (21031595)
2011
25
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. (20865336)
2010
26
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. (21187823)
2010
27
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. (20573177)
2010
28
Successful treatment of molybdenum cofactor deficiency type A with cPMP. (20385644)
2010
29
Molybdenum cofactor deficiency in a Malaysian child. (19907877)
2009
30
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. (19538746)
2009
31
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency. (19544009)
2009
32
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. (18092812)
2008
33
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. (17704913)
2007
34
Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency. (17236133)
2007
35
Molybdenum cofactor deficiency: clinical features in a Turkish patient. (17158010)
2007
36
A Turkish case with molybdenum cofactor deficiency. (17065069)
2006
37
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. (16429380)
2005
38
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. (15794186)
2005
39
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. (15862276)
2005
40
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. (15115759)
2004
41
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. (15317939)
2004
42
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. (12872846)
2003
43
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. (12533804)
2003
44
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. (12732628)
2003
45
Molybdenum cofactor-deficient mice resemble the phenotype of human patients. (12471057)
2002
46
The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry. (12385777)
2002
47
New insights into the neuropathogenesis of molybdenum cofactor deficiency. (11858544)
2002
48
Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. (11332461)
2001
49
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (11095995)
2001
50
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. (11746050)
2001

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
19.8AOX1, XDH
29.8AOX1, XDH
39.7MOCS2, MOCS3
49.6GPHN, MOCS1, MOCS2
5
Show member pathways
8.8DPYD, PNP, XDH
6
Show member pathways
8.1AOX1, GPHN, MOCS1, MOCS2, MOCS3, TTR
7
Show member pathways
5.7AOX1, DPYD, GPHN, MOCS1, MOCS2, MOCS3

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:00190089.9MOCS1, MOCS2

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

idNameGO IDScoreTop Affiliating Genes
1Mo-molybdopterin cofactor biosynthetic processGO:00067779.8GPHN, MOCS1, MOCS2, MOCS3
2molybdopterin cofactor biosynthetic processGO:00323249.8GPHN, MOCS1, MOCS2, MOCS3
3xanthine catabolic processGO:00091159.8AOX1, XDH
4purine nucleotide catabolic processGO:00061959.5PNP, XDH
5oxidation-reduction processGO:00551148.6AOX1, DPYD, GPHN, SUOX, XDH

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:005153710.5AOX1, XDH
24 iron, 4 sulfur cluster bindingGO:005153910.2DPYD, MOCS1
3oxidoreductase activity, acting on CH-OH group of donorsGO:00166149.8AOX1, XDH
4molybdopterin cofactor bindingGO:00435469.8AOX1, GPHN, SUOX, XDH
5xanthine dehydrogenase activityGO:00048549.8AOX1, XDH
6flavin adenine dinucleotide bindingGO:00506609.7AOX1, DPYD, XDH
7oxidoreductase activity, acting on the aldehyde or oxo group of donorsGO:00169039.7AOX1, XDH
8iron-sulfur cluster bindingGO:00515369.4AOX1, DPYD, MOCS1, XDH
9oxidoreductase activityGO:00164918.9AOX1, DPYD, SUOX, XDH
10catalytic activityGO:00038248.4DPYD, GPHN, MOCS1, MOCS3, PNP, XDH
11metal ion bindingGO:00468727.7AOX1, DPYD, GLRA1, GPHN, MOCS1, MOCS3

Sources for Molybdenum Cofactor Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet