MCID: MLY001
MIFTS: 37

Molybdenum Cofactor Deficiency

Categories: Rare diseases

Aliases & Classifications for Molybdenum Cofactor Deficiency

MalaCards integrated aliases for Molybdenum Cofactor Deficiency:

Name: Molybdenum Cofactor Deficiency 49 24 28 51
Combined Molybdoflavoprotein Enzyme Deficiency 24 28 69
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 49 24
Mocod 49 24
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 24
Deficiency of Molybdenum Cofactor 24

Classifications:



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UMLS 69 C0268119

Summaries for Molybdenum Cofactor Deficiency

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 xanthinuria. An important gene associated with Molybdenum Cofactor Deficiency is MOCS1 (Molybdenum Cofactor Synthesis 1), and among its related pathways/superpathways are Metabolism and Purine metabolism. 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):


# 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:


# 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:

# Genetic test Affiliating Genes
1 Combined Molybdoflavoprotein Enzyme Deficiency 28
2 Molybdenum Cofactor Deficiency 28

Anatomical Context for Molybdenum Cofactor Deficiency

MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

38
Brain, Testes

Publications for Molybdenum Cofactor Deficiency

Articles related to Molybdenum Cofactor Deficiency:

(show top 50) (show all 99)
# Title Authors Year
1
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. ( 29368224 )
2018
2
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI. ( 29274890 )
2017
3
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. ( 28544736 )
2017
4
S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency. ( 29106383 )
2017
5
Critical appraisal of genotype assessment in molybdenum cofactor deficiency. ( 28900816 )
2017
6
Molybdenum cofactor deficiency causes translucent integument, male-biased lethality, and flaccid paralysis in the silkworm Bombyx mori. ( 27041280 )
2016
7
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. ( 27138983 )
2016
8
Molybdenum cofactor deficiency. ( 26653176 )
2016
9
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. ( 26343839 )
2015
10
Child Neurology: Molybdenum cofactor deficiency. ( 26644055 )
2015
11
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. ( 25709896 )
2015
12
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. ( 25764214 )
2015
13
Treatments for rare diseases: molybdenum cofactor deficiency. ( 26343841 )
2015
14
Choice of anesthesia in molybdenum cofactor deficiency: A case report. ( 25657759 )
2014
15
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. ( 24379235 )
2014
16
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). ( 23122324 )
2013
17
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. ( 23250031 )
2013
18
Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome. ( 23436702 )
2013
19
Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine. ( 23392866 )
2013
20
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. ( 22759696 )
2012
21
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. ( 23430915 )
2012
22
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. ( 23147983 )
2012
23
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. ( 22403017 )
2012
24
The association of molybdenum cofactor deficiency and pyloric stenosis. ( 23128059 )
2012
25
Timing of cerebral developmental disruption in molybdenum cofactor deficiency. ( 21775622 )
2011
26
Prenatal brain disruption in molybdenum cofactor deficiency. ( 21285035 )
2011
27
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. ( 21031595 )
2011
28
Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. ( 21907887 )
2011
29
A GPHN point mutation leading to molybdenum cofactor deficiency. ( 22040219 )
2011
30
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. ( 21187823 )
2010
31
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. ( 20865336 )
2010
32
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. ( 20573177 )
2010
33
Successful treatment of molybdenum cofactor deficiency type A with cPMP. ( 20385644 )
2010
34
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
35
Molybdenum cofactor deficiency in a Malaysian child. ( 19907877 )
2009
36
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. ( 19538746 )
2009
37
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. ( 18092812 )
2008
38
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
39
Molybdenum cofactor deficiency: clinical features in a Turkish patient. ( 17158010 )
2007
40
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. ( 17704913 )
2007
41
A Turkish case with molybdenum cofactor deficiency. ( 17065069 )
2006
42
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. ( 15862276 )
2005
43
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. ( 15794186 )
2005
44
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. ( 16429380 )
2005
45
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. ( 15317939 )
2004
46
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. ( 15115759 )
2004
47
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. ( 12732628 )
2003
48
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. ( 12533804 )
2003
49
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. ( 12872846 )
2003
50
Molybdenum cofactor-deficient mice resemble the phenotype of human patients. ( 12471057 )
2002

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

Pathways related to Molybdenum Cofactor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 AOX1 DPYD GPHN MOCS1 MOCS2 MOCS3
2
Show member pathways
11.93 DPYD PNP XDH
3
Show member pathways
11.71 AOX1 GPHN MOCS1 MOCS2 MOCS3 TTR
4 10.8 AOX1 XDH
5
Show member pathways
10.79 GPHN MOCS1 MOCS2
6 10.22 AOX1 XDH
7 10.16 MOCS2 MOCS3

GO Terms for Molybdenum Cofactor Deficiency

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.65 AOX1 DPYD GPHN SUOX XDH
2 purine nucleotide catabolic process GO:0006195 9.32 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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