MCID: MLY001
MIFTS: 37

Molybdenum Cofactor Deficiency

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Molybdenum Cofactor Deficiency

MalaCards integrated aliases for Molybdenum Cofactor Deficiency:

Name: Molybdenum Cofactor Deficiency 50 24 25 29 52
Combined Molybdoflavoprotein Enzyme Deficiency 25 29 69
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 50 25
Mocod 50 25
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 25
Deficiency of Molybdenum Cofactor 25

Classifications:



Summaries for Molybdenum Cofactor Deficiency

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 xanthinuria, type i and molybdenum cofactor deficiency a. An important gene associated with Molybdenum Cofactor Deficiency is MOCS2 (Molybdenum Cofactor Synthesis 2), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Molybdenum and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include brain and testes.

Wikipedia : 72 Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads... more...

Related Diseases for Molybdenum Cofactor Deficiency

Graphical network of the top 20 diseases related to Molybdenum Cofactor Deficiency:



Diseases related to Molybdenum Cofactor Deficiency

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency

Drugs & Therapeutics for Molybdenum Cofactor Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Molybdenum Approved Phase 2, Phase 3,Phase 1 7439-98-7 185498
2 Micronutrients Phase 2, Phase 3,Phase 1
3 Trace Elements Phase 2, Phase 3,Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of ALXN1101 in Neonates With Molybdenum Cofactor Deficiency (MOCD) Type A Active, not recruiting NCT02629393 Phase 2, Phase 3 ALXN1101
2 Safety & Efficacy Study of ALXN1101 in Pediatric Patients With MoCD Type A Currently Treated With rcPMP Active, not recruiting NCT02047461 Phase 2 ALXN1101
3 Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
4 Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers Completed NCT01894165 Phase 1 ALXN1101;Placebo
5 A Retrospective, Observational, Noninterventional Data Collection Study for Patients With Molybdenum Cofactor Deficiency Who Have Been Previously Treated With Cyclic Pyranopterin Monophosphate (cPMP) Completed NCT01640717
6 A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies Completed NCT01735188

Search NIH Clinical Center for Molybdenum Cofactor Deficiency

Genetic Tests for Molybdenum Cofactor Deficiency

Genetic tests related to Molybdenum Cofactor Deficiency:

id Genetic test Affiliating Genes
1 Combined Molybdoflavoprotein Enzyme Deficiency 29
2 Molybdenum Cofactor Deficiency 29 24 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency

MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

39
Brain, Testes

Publications for Molybdenum Cofactor Deficiency

Articles related to Molybdenum Cofactor Deficiency:

(show top 50) (show all 96)
id Title Authors Year
1
Critical appraisal of genotype assessment in molybdenum cofactor deficiency. ( 28900816 )
2017
2
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. ( 28544736 )
2017
3
Molybdenum cofactor deficiency causes translucent integument, male-biased lethality, and flaccid paralysis in the silkworm Bombyx mori. ( 27041280 )
2016
4
Molybdenum cofactor deficiency. ( 26653176 )
2016
5
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. ( 27138983 )
2016
6
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. ( 26343839 )
2015
7
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. ( 25764214 )
2015
8
Treatments for rare diseases: molybdenum cofactor deficiency. ( 26343841 )
2015
9
Child Neurology: Molybdenum cofactor deficiency. ( 26644055 )
2015
10
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. ( 25709896 )
2015
11
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. ( 24379235 )
2014
12
Choice of anesthesia in molybdenum cofactor deficiency: A case report. ( 25657759 )
2014
13
Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine. ( 23392866 )
2013
14
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). ( 23122324 )
2013
15
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. ( 23250031 )
2013
16
Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome. ( 23436702 )
2013
17
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. ( 23430915 )
2012
18
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. ( 23147983 )
2012
19
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. ( 22759696 )
2012
20
The association of molybdenum cofactor deficiency and pyloric stenosis. ( 23128059 )
2012
21
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. ( 22403017 )
2012
22
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. ( 21031595 )
2011
23
Timing of cerebral developmental disruption in molybdenum cofactor deficiency. ( 21775622 )
2011
24
Prenatal brain disruption in molybdenum cofactor deficiency. ( 21285035 )
2011
25
Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. ( 21907887 )
2011
26
A GPHN point mutation leading to molybdenum cofactor deficiency. ( 22040219 )
2011
27
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. ( 20865336 )
2010
28
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. ( 20573177 )
2010
29
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. ( 21187823 )
2010
30
Successful treatment of molybdenum cofactor deficiency type A with cPMP. ( 20385644 )
2010
31
Molybdenum cofactor deficiency in a Malaysian child. ( 19907877 )
2009
32
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. ( 19538746 )
2009
33
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
34
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. ( 18092812 )
2008
35
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. ( 17704913 )
2007
36
Molybdenum cofactor deficiency: clinical features in a Turkish patient. ( 17158010 )
2007
37
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
38
A Turkish case with molybdenum cofactor deficiency. ( 17065069 )
2006
39
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. ( 15862276 )
2005
40
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. ( 16429380 )
2005
41
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. ( 15794186 )
2005
42
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. ( 15317939 )
2004
43
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. ( 15115759 )
2004
44
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. ( 12732628 )
2003
45
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. ( 12872846 )
2003
46
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. ( 12533804 )
2003
47
Molybdenum cofactor-deficient mice resemble the phenotype of human patients. ( 12471057 )
2002
48
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
49
New insights into the neuropathogenesis of molybdenum cofactor deficiency. ( 11858544 )
2002
50
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. ( 11746050 )
2001

Variations for Molybdenum Cofactor Deficiency

Expression for Molybdenum Cofactor Deficiency

Search GEO for disease gene expression data for Molybdenum Cofactor Deficiency.

Pathways for Molybdenum Cofactor Deficiency

GO Terms for Molybdenum Cofactor Deficiency

Cellular components related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 molybdopterin synthase complex GO:0019008 8.62 MOCS1 MOCS2

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 AOX1 DPYD GPHN SUOX XDH
2 purine nucleotide catabolic process GO:0006195 9.26 PNP XDH
3 molybdopterin cofactor biosynthetic process GO:0032324 9.26 GPHN MOCS1 MOCS2 MOCS3
4 xanthine catabolic process GO:0009115 9.16 AOX1 XDH
5 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.92 GPHN MOCS1 MOCS2 MOCS3

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.76 AOX1 DPYD SUOX XDH
2 flavin adenine dinucleotide binding GO:0050660 9.5 AOX1 DPYD XDH
3 4 iron, 4 sulfur cluster binding GO:0051539 9.48 DPYD MOCS1
4 iron-sulfur cluster binding GO:0051536 9.46 AOX1 DPYD MOCS1 XDH
5 catalytic activity GO:0003824 9.43 DPYD GPHN MOCS1 MOCS3 PNP XDH
6 2 iron, 2 sulfur cluster binding GO:0051537 9.4 AOX1 XDH
7 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.37 AOX1 XDH
8 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 9.26 AOX1 XDH
9 molybdopterin cofactor binding GO:0043546 8.92 AOX1 GPHN SUOX XDH
10 metal ion binding GO:0046872 10.03 AOX1 DPYD GLRA1 GPHN MOCS1 MOCS3

Sources for Molybdenum Cofactor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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51 NINDS
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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