MCID: MLY001
MIFTS: 37

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 45 22 23 47
Combined Molybdoflavoprotein Enzyme Deficiency 23 24 65
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 45 23
 
Deficiency of Molybdenum Cofactor 23 24
Mocod 45 23
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 23

Classifications:



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UMLS65 C0268119

Summaries for Molybdenum Cofactor Deficiency

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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 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 are Folate biosynthesis and Sulfur relay system. Affiliated tissues include brain, breast and heart.

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

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

(show top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
1xanthinuria, type i31.0AOX1, SUOX, XDH
2molybdenum cofactor deficiency a12.9
3molybdenum cofactor deficiency c12.9
4molybdenum cofactor deficiency b12.9
5sulfite oxidase deficiency due to molybdenum cofactor deficiency type a12.6
6sulfite oxidase deficiency due to molybdenum cofactor deficiency type b12.6
7sulfite oxidase deficiency due to molybdenum cofactor deficiency type c12.6
8sulfite oxidase deficiency due to molybdenum cofactor deficiency12.6
9lymphoma10.5
10arthritis10.4
11hepatitis10.4
12down syndrome10.4
13myopathy10.4
14pneumonia10.4
15neuronitis10.4
16endotheliitis10.4
17rheumatoid arthritis10.2
18parathyroid carcinoma10.2
19wolf-hirschhorn syndrome10.2
20alcohol dependence10.2
21bloom syndrome10.2
22cataract10.2
23follicular lymphoma10.2
24gastric cancer10.2
25glycogen storage disease10.2
26leukemia10.2
27thalassemia10.2
28exanthema subitum10.2
29sleep apnea10.2
30obstructive sleep apnea10.2
31ameloblastoma10.2
32cutaneous t cell lymphoma10.2
33congenital myopathy10.2
34osteomyelitis10.2
35dermatomyositis10.2
36berylliosis10.2
37lymphoblastic leukemia10.2
38imperforate anus10.2
39hypertrophic cardiomyopathy10.2
40arachnoiditis10.2
41bile reflux10.2
42shigellosis10.2
43porphyria10.2
44chancroid10.2
45neuronal ceroid lipofuscinosis10.2
46melanoma10.2
47klinefelter's syndrome10.2
48granulomatous hepatitis10.2
49pharyngitis10.2
50kernicterus10.2

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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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 1257439-98-7185498
Synonyms:
Mo
Molybdaen
Molybdene
 
Molybdenum atom
Molybdenum elemental
Molybdenum insoluble compounds
Molybdenum metallic
2Trace ElementsPhase 2, Phase 33900
3MicronutrientsPhase 2, Phase 33901

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 DeficienciesActive, not recruitingNCT01735188

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 Molybdenum Cofactor Deficiency22 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency

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MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

33
Brain, Breast, Heart, T cells, Neutrophil, Temporal lobe, Endothelial

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 90)
idTitleAuthorsYear
1
Post-Operative Multiple Thrombosis Associated with Patent Foramen Ovale: Embolic Stroke, Right Atrial Thrombi, Pulmonary Embolism and Deep Vein Thrombosis. (26448826)
2015
2
Surgery for adult spondylolisthesis: a systematic review of the evidence. (26363561)
2015
3
Intrahepatic cholestasis of pregnancy. (25411748)
2014
4
Multidisciplinary care as a holistic approach to the management of vascular disease. (25294291)
2014
5
Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy. (23626743)
2013
6
GP perspectives of irritable bowel syndrome--an accepted illness, but management deviates from guidelines: a qualitative study. (23805998)
2013
7
Isolated cardiac sarcoidosis: establishing the diagnosis with electroanatomic mapping-guided endomyocardial biopsy. (23246240)
2013
8
The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism. (23412840)
2013
9
Radiotherapy for optic nerve sheath meningioma: a case for earlier intervention? (23489873)
2013
10
HIV-associated multicentric Castleman's disease. (23087796)
2012
11
Off-pump complete pericardiectomy for an unusual case of annular constrictive pericarditis. (22818335)
2012
12
Urban legends: recurrent aphthous stomatitis. (21812866)
2011
13
Associations between vitamin D receptor polymorphisms and susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis. (21110115)
2011
14
The translational science of Marfan syndrome. (21742617)
2011
15
A critical role for GRP78/BiP in the tumor microenvironment for neovascularization during tumor growth and metastasis. (21467168)
2011
16
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. (21361872)
2011
17
Correlation of clinicopathological parameters with HGF, c-Met, EGFR, and IGF-1R expression in uveal melanoma. (20061986)
2010
18
Interleukin-1 receptor antagonist (IL-1Ra) and IL-1Ra producing mesenchymal stem cells as modulators of diabetogenesis. (19845478)
2010
19
Mediastinal seminoma with multiple KIT gene mutations. (20001354)
2009
20
Drug-metabolising enzymes are down-regulated by hypoxia in differentiated human hepatoma HepaRG cells: HIF-1alpha involvement in CYP3A4 repression. (19695866)
2009
21
Lymphomatous pericardial effusion positive for Mycobacterium tuberculosis by PCR analysis. (18406651)
2008
22
Regular gaits and optimal velocities for motor proteins. (18556760)
2008
23
Modulation of the antioxidant defence in different developmental stages of Schistosoma mansoni by praziquantel and artemether. (18236739)
2007
24
The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease. (17291198)
2007
25
In situ hybridization studies confirming recent findings of the existence of a local nonneuronal catecholamine production in human patellar tendinosis. (17661370)
2007
26
Metabolism of collagen is altered in hypertensives with increased intima media thickness. (16864157)
2006
27
Serine-phosphorylated STAT1 is a prosurvival factor in Wilms' tumor pathogenesis. (16799645)
2006
28
Renal cell carcinoma and the use of sorafenib. (18360584)
2006
29
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. (16762626)
2006
30
Cervical chordoma masquerading as a thyroid neoplasm: a case report. (15830368)
2005
31
Enhancement of ATRA-induced cell differentiation by inhibition of calcium accumulation into the endoplasmic reticulum: cross-talk between RAR alpha and calcium-dependent signaling. (12515718)
2003
32
Elevated expression levels of NCOA3, TOP1, and TFAP2C in breast tumors as predictors of poor prognosis. (12833450)
2003
33
The Tat/TAR-dependent phosphorylation of RNA polymerase II C-terminal domain stimulates cotranscriptional capping of HIV-1 mRNA. (14569024)
2003
34
Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome. (11527897)
2001
35
Antileukemic activity of Flt3 ligand in murine leukemia. (10766177)
2000
36
The neuroprotective effect of inflammation: implications for the therapy of multiple sclerosis. (10854651)
2000
37
Antifungal resistance in yeast vaginitis. (10907778)
1999
38
Inflammatory demyelinating polyneuropathy in a kidney transplant patient with cytomegalovirus infection. (10489240)
1999
39
Vasodilatory effects of B-type natriuretic peptide are impaired in patients with chronic heart failure. (9506326)
1998
40
Partial V(D)J recombination activity leads to Omenn syndrome. (9630231)
1998
41
Intrinsic mineralization defect in Hyp mouse osteoblasts. (9755091)
1998
42
The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. (9043501)
1997
43
Monokine products as predictors of AIDS dementia. (8931783)
1996
44
The first detection of complete androgen insensitivity with no mutation in the coding sequence of the androgen receptor gene. (9159192)
1996
45
A study on expression of tumor suppressor gene p53 in endometrial carcinoma]. (8745486)
1995
46
Class II MHC typing in pemphigoid gestationis. (8565245)
1995
47
HNF-1 shares three sequence motifs with the POU domain proteins and is identical to LF-B1 and APF. (1970973)
1990
48
Meconium peritonitis due to meconium ileus presenting as fetal ascites: a case report. (2667511)
1989
49
Thrombocythemia in the myeloproliferative disorder of Down's syndrome. (4229443)
1967
50
Lower Rio Grande valley outbreak of St. Louis encephalitis. (13835654)
1959

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
19.9MOCS1, MOCS2
29.4MOCS1, MOCS2, MOCS3
3
Show member pathways
8.8DPYD, PNP, XDH
4
Show member pathways
8.1AOX1, GPHN, MOCS1, MOCS2, MOCS3, TTR
5
Show member pathways
5.7AOX1, DPYD, GPHN, MOCS1, MOCS2, MOCS3

GO Terms for genes affiliated with Molybdenum Cofactor Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1molybdopterin cofactor biosynthetic processGO:003232410.4MOCS1, MOCS3
2xanthine catabolic processGO:000911510.1AOX1, XDH
3purine nucleobase metabolic processGO:00061449.9PNP, XDH
4small molecule metabolic processGO:00442818.6DPYD, MOCS1, TPI1, XDH

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

idNameGO IDScoreTop Affiliating Genes
1iron-sulfur cluster bindingGO:005153610.1AOX1, MOCS1
2molybdopterin cofactor bindingGO:00435469.8AOX1, SUOX
3flavin adenine dinucleotide bindingGO:00506609.8AOX1, XDH

Sources for Molybdenum Cofactor Deficiency

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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