MCID: MLY001
MIFTS: 36

Molybdenum Cofactor Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Molybdenum Cofactor Deficiency

About this section

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
 
Mocod 45 23
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 23
Deficiency of Molybdenum Cofactor 23


Classifications:



Summaries for Molybdenum Cofactor Deficiency

About this section
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 molybdenum cofactor deficiency a and xanthinuria, type i. 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:68 Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads... more...

Related Diseases for Molybdenum Cofactor Deficiency

About this section

Diseases related to Molybdenum Cofactor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1molybdenum cofactor deficiency a31.5GPHN, MOCS1, MOCS2
2xanthinuria, type i30.5AOX1, SUOX, XDH
3molybdenum cofactor deficiency c10.8
4molybdenum cofactor deficiency b10.8
5sulfite oxidase deficiency due to molybdenum cofactor deficiency10.7
6sulfite oxidase deficiency due to molybdenum cofactor deficiency type a10.6
7sulfite oxidase deficiency10.5
8metal metabolism disorder10.5
9nutritional deficiency disease10.5
10sulfite oxidase deficiency due to molybdenum cofactor deficiency type b10.5
11sulfite oxidase deficiency due to molybdenum cofactor deficiency type c10.5
12cerebritis10.4
13xanthinuria10.4
14encephalopathy10.4
15isolated sulfite oxidase deficiency10.4
16anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3
17cerebral palsy10.3
18homocystinuria10.3
19metabolic acidosis10.3
20autosomal genetic disease10.3
21autosomal recessive disease10.3
22dystonia10.3
23pyloric stenosis10.3
24developmental disabilities10.3
25hyperekplexia10.3
26dandy-walker complex10.3
27hereditary xanthinuria10.3
28acetazolamide-responsive myotonia10.1MOCS1, SUOX
29homocystinuria due to methylene tetrahydrofolate reductase deficiency10.1GPHN, MOCS1, MOCS2
30hyperekplexia, hereditary 1, autosomal dominant or recessive10.1GLRA1, GPHN
31xanthogranulomatous sialadenitis10.1AOX1, XDH
32vohwinkel syndrome10.1MOCS1, SUOX, XDH
33endocarditis10.1MOCS1, SUOX
34lissencephaly due to tuba1a mutation10.0AOX1, SUOX, XDH
35hyperkalemic periodic paralysis type 110.0GLRA1, GPHN, MOCS1
36branchiootic syndrome10.0AOX1, SUOX, XDH
37hprt-related gout10.0PNP, XDH
38chronobiology disease9.9GLRA1, GPHN
39purpura9.8DPYD, PNP, XDH
40momo syndrome8.4AOX1, DPYD, GLRA1, GPHN, MOCS1, MOCS2

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



Diseases related to molybdenum cofactor deficiency

Symptoms for Molybdenum Cofactor Deficiency

About this section

Drugs & Therapeutics for Molybdenum Cofactor Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MolybdenumPhase 2, Phase 1247439-98-7185498
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 ANot yet recruitingNCT02629393Phase 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

About this section

Genetic tests related to Molybdenum Cofactor Deficiency:

id Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency22 MOCS2
2 Combined Molybdoflavoprotein Enzyme Deficiency24

Anatomical Context for Molybdenum Cofactor Deficiency

About this section

MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

33
Brain, Testes

Animal Models for Molybdenum Cofactor Deficiency or affiliated genes

About this section

Publications for Molybdenum Cofactor Deficiency

About this section

Articles related to Molybdenum Cofactor Deficiency:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Treatments for rare diseases: molybdenum cofactor deficiency. (26343841)
2015
2
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. (25764214)
2015
3
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. (25709896)
2015
4
Choice of anesthesia in molybdenum cofactor deficiency: A case report. (25657759)
2014
5
Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. (24379235)
2014
6
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. (23250031)
2013
7
The association of molybdenum cofactor deficiency and pyloric stenosis. (23128059)
2012
8
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. (22403017)
2012
9
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. (23147983)
2012
10
Prenatal brain disruption in molybdenum cofactor deficiency. (21285035)
2011
11
Successful treatment of molybdenum cofactor deficiency type A with cPMP. (20385644)
2010
12
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency. (20865336)
2010
13
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic. (21187823)
2010
14
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. (19538746)
2009
15
Molybdenum cofactor deficiency in a Malaysian child. (19907877)
2009
16
Crystal structure of a molybdopterin synthase-precursor Z complex: insight into its sulfur transfer mechanism and its role in molybdenum cofactor deficiency. (18092812)
2008
17
Molybdenum cofactor deficiency: clinical features in a Turkish patient. (17158010)
2007
18
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. (17704913)
2007
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
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. (15115759)
2004
23
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. (12872846)
2003
24
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. (12732628)
2003
25
New insights into the neuropathogenesis of molybdenum cofactor deficiency. (11858544)
2002
26
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. (11746050)
2001
27
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (11095995)
2001
28
Diagnosis of molybdenum cofactor deficiency. (10030363)
1999
29
In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency. (10552066)
1999
30
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (10053004)
1999
31
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. (9634514)
1998
32
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (9921896)
1998
33
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (9731530)
1998
34
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant. (9459218)
1998
35
Hypouricemia and molybdenum-cofactor deficiency. (9003869)
1997
36
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. (8812740)
1996
37
Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. (8976115)
1996
38
CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. (8938304)
1996
39
Dextromethorphan in molybdenum cofactor deficiency. (8741046)
1996
40
Molybdenum-cofactor deficiency: CT and MR findings. (7791952)
1995
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
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. (8531042)
1995
44
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. (7660932)
1994
45
The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile. (8051926)
1994
46
Short-term response to dietary therapy in molybdenum cofactor deficiency. (7694543)
1993
47
Molybdenum cofactor deficiency in two siblings: diagnostic difficulties. (8404970)
1993
48
Biochemical investigation of a child with molybdenum cofactor deficiency. (2289312)
1990
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

About this section

Expression for genes affiliated with Molybdenum Cofactor Deficiency

About this section
Search GEO for disease gene expression data for Molybdenum Cofactor Deficiency.

Pathways for genes affiliated with Molybdenum Cofactor Deficiency

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MOCS1, MOCS2
29.4MOCS1, MOCS2, MOCS3
3
Show member pathways
8.8DPYD, PNP, XDH
4
Show member pathways
8.8AOX1, GPHN, MOCS1, MOCS2, MOCS3
5
Show member pathways
6.3AOX1, DPYD, GPHN, MOCS1, MOCS2, MOCS3

GO Terms for genes affiliated with Molybdenum Cofactor Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
1molybdopterin synthase complexGO:001900810.6MOCS1, MOCS2
2cytosolGO:00058296.6AOX1, DPYD, MOCS1, MOCS2, MOCS3, PNP

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1purine nucleotide catabolic processGO:000619510.2PNP, XDH
2purine nucleobase metabolic processGO:000614410.0PNP, XDH
3Mo-molybdopterin cofactor biosynthetic processGO:00067779.8GPHN, MOCS1, MOCS2, MOCS3
4molybdopterin cofactor biosynthetic processGO:00323249.8GPHN, MOCS1, MOCS2, MOCS3
5vitamin metabolic processGO:00067669.1AOX1, GPHN, MOCS1, MOCS2, MOCS3
6water-soluble vitamin metabolic processGO:00067679.1AOX1, GPHN, MOCS1, MOCS2, MOCS3
7nucleobase-containing small molecule metabolic processGO:00550868.9DPYD, PNP, XDH
8oxidation-reduction processGO:00551148.6AOX1, DPYD, SUOX, XDH
9small molecule metabolic processGO:00442816.2AOX1, DPYD, GPHN, MOCS1, MOCS2, MOCS3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1xanthine dehydrogenase activityGO:000485410.4AOX1, XDH
22 iron, 2 sulfur cluster bindingGO:005153710.3AOX1, XDH
3UDP-N-acetylmuramate dehydrogenase activityGO:000876210.2AOX1, XDH
4oxidoreductase activity, acting on CH-OH group of donorsGO:001661410.2AOX1, XDH
5molybdopterin cofactor bindingGO:004354610.0AOX1, SUOX, XDH
64 iron, 4 sulfur cluster bindingGO:00515399.7DPYD, MOCS1
7flavin adenine dinucleotide bindingGO:00506609.3AOX1, DPYD, XDH
8catalytic activityGO:00038249.3AOX1, MOCS1, PNP, XDH
9iron-sulfur cluster bindingGO:00515369.2AOX1, DPYD, MOCS1, XDH
10oxidoreductase activityGO:00164919.1AOX1, SUOX, XDH
11metal ion bindingGO:00468727.5AOX1, DPYD, GPHN, MOCS1, MOCS3, SUOX

Sources for Molybdenum Cofactor Deficiency

About this section
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