MOCOD
MCID: MLY001
MIFTS: 40

Molybdenum Cofactor Deficiency (MOCOD)

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Molybdenum Cofactor Deficiency

MalaCards integrated aliases for Molybdenum Cofactor Deficiency:

Name: Molybdenum Cofactor Deficiency 12 74 52 25 36 54 15
Combined Molybdoflavoprotein Enzyme Deficiency 25 29 6 71
Mocod 12 52 25
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 52 25
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase 12
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency 25
Deficiency of Molybdenum Cofactor 25
Deficiency, Molybdenum Cofactor 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0111165
KEGG 36 H02311
ICD10 32 E72.1
UMLS 71 C0268119

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." Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood. Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.

MalaCards based summary : Molybdenum Cofactor Deficiency, also known as combined molybdoflavoprotein enzyme deficiency, is related to molybdenum cofactor deficiency, complementation group b and molybdenum cofactor deficiency, complementation group c. An important gene associated with Molybdenum Cofactor Deficiency is MOCS1 (Molybdenum Cofactor Synthesis 1), and among its related pathways/superpathways are Folate biosynthesis and Metabolism. Affiliated tissues include testes and brain.

Disease Ontology : 12 A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.

KEGG : 36 Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations result in the simultaneous loss of all MoCo-dependent enzyme activities, that include sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. MOCOD results in neonatal seizures and other neurological symptoms identical to those of sulphite oxidase deficiency [DS:H01237].

Wikipedia : 74 Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdopterin - and... more...

Related Diseases for Molybdenum Cofactor Deficiency

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency, complementation group b 34.9 MOCS2 MOCS1 ITGA2
2 molybdenum cofactor deficiency, complementation group c 33.9 SUOX MOCS3 MOCS2 MOCS1 GPHN AOX1
3 molybdenum cofactor deficiency, complementation group a 33.6 XDH SUOX PNP MOCS2 MOCS1 GPHN
4 xanthinuria, type i 32.8 XDH SUOX AOX1
5 sulfite oxidase deficiency, isolated 32.2 SUOX MOCS3 MOCS2 MOCS1 GPHN AOX1
6 hereditary xanthinuria 30.7 XDH SUOX AOX1
7 xanthinuria 30.7 XDH SUOX AOX1
8 encephalomalacia 30.6 SUOX MOCS1
9 hyperekplexia 29.4 SUOX MOCS1 GPHN GLRA1 ARHGEF9
10 sulfite oxidase deficiency due to molybdenum cofactor deficiency 12.7
11 autosomal recessive disease 10.7
12 encephalopathy 10.6
13 inherited metabolic disorder 10.5
14 microcephaly 10.5
15 visual epilepsy 10.4
16 seizure disorder 10.4
17 dandy-walker syndrome 10.3
18 hemiplegia 10.3
19 epilepsy, pyridoxine-dependent 10.2
20 abdominal obesity-metabolic syndrome 1 10.2
21 isolated ectopia lentis 10.2
22 lactic acidosis 10.2
23 dystonia 10.2
24 cerebral atrophy 10.2
25 hypotonia 10.2
26 spasticity 10.2
27 hyperekplexia 1 10.2 GPHN GLRA1
28 xanthinuria, type ii 10.2 XDH AOX1
29 hydrocephalus, congenital, 1 10.1
30 alacrima, achalasia, and mental retardation syndrome 10.1
31 metabolic acidosis 10.1
32 apraxia 10.1
33 pontocerebellar hypoplasia 10.1
34 spastic quadriplegia 10.1
35 hypertrophic pyloric stenosis 10.1
36 pyloric stenosis 10.1
37 quadriplegia 10.1
38 epilepsy 10.1
39 cerebral palsy 10.1
40 bronchitis 10.1
41 learning disability 10.1
42 homocystinuria 10.1
43 hypertonia 10.1
44 neurometabolic disease 10.1
45 ritscher-schinzel syndrome 2 10.0 GPHN ARHGEF9
46 hyperprolinemia, type ii 9.8 PNPO MOCS2
47 stiff-person syndrome 9.8 GPHN GLRA1
48 cerebral creatine deficiency syndrome 2 9.8 SUOX PNPO
49 cerebral creatine deficiency syndrome 9.7 SUOX PNPO
50 phosphoserine aminotransferase deficiency 9.7 SUOX PNPO

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2/3, Multicenter, Multinational, Open Label Study to Evaluate the Efficacy and Safety of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A Recruiting NCT02629393 Phase 2, Phase 3 ORGN001 (formerly ALXN1101)
2 A Phase 2, Multicenter, Multinational, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of ORGN001 (Formerly ALXN1101) in Pediatric Patients With Molybdenum Cofactor Deficiency (MoCD) Type A Currently Treated With Recombinant Escherichia Coli-derived Cyclic Pyranopterin Monophosphate (rcPMP) Enrolling by invitation NCT02047461 Phase 2 ORGN001 (formerly ALXN1101)
3 A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
4 A Phase 1, Randomized, Blinded, Placebo-Controlled, Single-Dose, Sequential-Cohort, Dose-Escalation Study to Evaluate the Safety, Tolerability and Pharmacokinetics of ALXN1101 in Healthy Adult Subjects 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 29

Anatomical Context for Molybdenum Cofactor Deficiency

MalaCards organs/tissues related to Molybdenum Cofactor Deficiency:

40
Testes, Brain

Publications for Molybdenum Cofactor Deficiency

Articles related to Molybdenum Cofactor Deficiency:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Successful treatment of molybdenum cofactor deficiency type A with cPMP. 61 54
20385644 2010
2
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency. 54 61
19544009 2009
3
A Turkish case with molybdenum cofactor deficiency. 54 61
17065069 2006
4
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. 54 61
16140720 2005
5
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. 61 54
15794186 2005
6
New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. 61 54
15025809 2004
7
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. 61 54
12684523 2003
8
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. 54 61
12732628 2003
9
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 61 54
12754701 2003
10
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. 61 54
12533804 2003
11
[Detection and identification of variant and abnormally modified proteins by soft ionization mass spectrometry, unrivaled technique for clinical diagnosis]. 61 54
12652689 2003
12
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. 54 61
12385777 2002
13
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 54 61
11746050 2001
14
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. 54 61
10759467 2000
15
Detection by mass spectrometry of highly increased amount of S-sulfonated transthyretin in serum from a patient with molybdenum cofactor deficiency. 61 54
10759156 2000
16
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers. 61 54
10701843 2000
17
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. 54 61
9921896 1998
18
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. 61 54
9634514 1998
19
Spherophakia associated with molybdenum cofactor deficiency. 54 61
9415683 1997
20
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 54 61
9153281 1997
21
Isolated sulfite oxidase deficiency. 61 54
9050047 1996
22
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. 61 54
8976115 1996
23
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. 61 54
8812740 1996
24
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. 54 61
8531042 1995
25
Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. 61 54
7474893 1995
26
Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples. 54 61
1779653 1991
27
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion. 61 54
2044591 1991
28
Biochemical investigation of a child with molybdenum cofactor deficiency. 54 61
2289312 1990
29
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. 61
32014857 2020
30
Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature. 61
32099439 2020
31
The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations. 61
31201073 2019
32
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature. 61
30900395 2019
33
The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A. 61
30695801 2019
34
Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections. 61
30810871 2019
35
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. 61
30619713 2019
36
Molybdenum cofactor deficiency: Neuroimaging findings. 61
30108670 2018
37
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI. 61
29274890 2018
38
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. 61
29368224 2018
39
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. 61
29696052 2018
40
Isolated sulfite oxidase deficiency. 61
28980090 2018
41
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy. 61
29899766 2018
42
S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency. 61
29106383 2017
43
Critical appraisal of genotype assessment in molybdenum cofactor deficiency. 61
28900816 2017
44
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series. 61
28877755 2017
45
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. 61
28544736 2017
46
[Novel therapies in neurometabolic diseases: the importance of early intervention]. 61
28524215 2017
47
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. 61
27106218 2016
48
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. 61
27289259 2016
49
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. 61
27138983 2016
50
Molybdenum cofactor deficiency causes translucent integument, male-biased lethality, and flaccid paralysis in the silkworm Bombyx mori. 61
27041280 2016

Variations for Molybdenum Cofactor Deficiency

ClinVar genetic disease variations for Molybdenum Cofactor Deficiency:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MOCS1 NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg)SNV Conflicting interpretations of pathogenicity 356664 rs61732596 6:39883876-39883876 6:39916132-39916132
2 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*321A>GSNV Conflicting interpretations of pathogenicity 353872 rs73756618 5:52394111-52394111 5:53098281-53098281
3 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*171G>CSNV Conflicting interpretations of pathogenicity 353873 rs191465075 5:52394261-52394261 5:53098431-53098431
4 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*44A>CSNV Conflicting interpretations of pathogenicity 353875 rs367775935 5:52394388-52394388 5:53098558-53098558
5 MOCS1 NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu)SNV Uncertain significance 356666 rs368942024 6:39883974-39883974 6:39916230-39916230
6 MOCS1 NM_001358530.2(MOCS1):c.*759_*761dupduplication Uncertain significance 356623 rs543804008 6:39873371-39873372 6:39905595-39905596
7 MOCS1 NM_001358530.2(MOCS1):c.426C>T (p.Leu142=)SNV Uncertain significance 356665 rs375882259 6:39883969-39883969 6:39916225-39916225
8 MOCS1 NM_001358530.2(MOCS1):c.*1660_*1663ATAG[3]short repeat Uncertain significance 356596 rs112059918 6:39872465-39872466 6:39904689-39904690
9 MOCS1 NM_001358530.2(MOCS1):c.*1433T>ASNV Uncertain significance 356602 rs745650301 6:39872700-39872700 6:39904924-39904924
10 MOCS1 NM_001358530.2(MOCS1):c.*1062_*1063dupduplication Uncertain significance 356613 rs886061382 6:39873069-39873070 6:39905293-39905294
11 MOCS1 NM_001358530.2(MOCS1):c.*423C>ASNV Uncertain significance 356633 rs886061387 6:39873710-39873710 6:39905934-39905934
12 MOCS2 NM_004531.5(MOCS2):c.346_349del (p.Val116fs)deletion Uncertain significance 6110 rs398122798 5:52397217-52397220 5:53101387-53101390
13 MOCS2 NM_004531.5(MOCS2):c.99-8_99-5deldeletion Uncertain significance 353880 rs779872271 5:52398059-52398062 5:53102229-53102232
14 MOCS1 NM_001358530.2(MOCS1):c.*1866_*1870dupduplication Uncertain significance 356592 rs370863199 6:39872262-39872263 6:39904486-39904487
15 MOCS1 NM_001358530.2(MOCS1):c.*771_*772dupduplication Uncertain significance 356622 rs886061384 6:39873360-39873361 6:39905584-39905585
16 MOCS1 NM_001358530.2(MOCS1):c.*1711G>ASNV Uncertain significance 356595 rs886061379 6:39872422-39872422 6:39904646-39904646
17 MOCS1 NM_001358530.2(MOCS1):c.*908_*911AATC[5]short repeat Uncertain significance 356619 rs3839624 6:39873209-39873210 6:39905433-39905434
18 MOCS1 NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu)SNV Uncertain significance 356644 rs777476892 6:39874357-39874357 6:39906581-39906581
19 MOCS1 NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr)SNV Uncertain significance 356663 rs143573353 6:39883875-39883875 6:39916131-39916131
20 MOCS1 NM_001358530.2(MOCS1):c.*523_*527TCCTG[4]short repeat Likely benign 356630 rs138907488 6:39873595-39873596 6:39905819-39905820
21 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*1764deldeletion Likely benign 353809 rs3212655 5:52388187-52388187 5:53092357-53092357
22 MOCS2 NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala)SNV Likely benign 353879 rs2233213 5:52398005-52398005 5:53102175-53102175
23 MOCS2 NM_004531.5(MOCS2):c.255A>G (p.Lys85=)SNV Likely benign 353878 rs2233216 5:52397311-52397311 5:53101481-53101481
24 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2570C>ASNV Likely benign 353827 rs1900182 5:52388999-52388999 5:53093169-53093169
25 MOCS1 NM_001358530.2(MOCS1):c.*1660_*1663ATAG[1]short repeat Likely benign 356597 rs112059918 6:39872466-39872469 6:39904690-39904693
26 MOCS1 NM_001358530.2(MOCS1):c.*1389dupduplication Likely benign 356605 rs144859841 6:39872743-39872744 6:39904967-39904968
27 MOCS1 NM_001358530.2(MOCS1):c.*1348_*1351dupduplication Likely benign 356606 rs397953334 6:39872781-39872782 6:39905005-39905006
28 MOCS1 NM_001358530.2(MOCS1):c.*908_*911AATC[3]short repeat Likely benign 356620 rs3839624 6:39873210-39873213 6:39905434-39905437
29 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3918G>CSNV Benign/Likely benign 353860 rs10471829 5:52390347-52390347 5:53094517-53094517
30 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*4045_*4047AGT[1]short repeat Benign/Likely benign 353867 rs71727762 5:52390473-52390475 5:53094643-53094645
31 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*413deldeletion Benign/Likely benign 353870 rs3839261 5:52394019-52394019 5:53098189-53098189
32 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2570C>TSNV Benign/Likely benign 353828 rs1900182 5:52388999-52388999 5:53093169-53093169
33 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2574C>GSNV Benign/Likely benign 353829 rs75427194 5:52389003-52389003 5:53093173-53093173
34 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3164G>ASNV Benign/Likely benign 353846 rs7737412 5:52389593-52389593 5:53093763-53093763
35 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*4098C>GSNV Benign/Likely benign 353868 rs10471830 5:52390527-52390527 5:53094697-53094697
36 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3763_*3764deldeletion Benign/Likely benign 353857 rs145759303 5:52390191-52390192 5:53094361-53094362
37 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*760_*761insTTATinsertion Benign/Likely benign 353797 rs3212652 5:52387187-52387188 5:53091357-53091358
38 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*1252G>ASNV Benign/Likely benign 353803 rs1042324 5:52387681-52387681 5:53091851-53091851
39 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2505_*2508CAAA[3]short repeat Benign/Likely benign 353824 rs72277253 5:52388934-52388937 5:53093104-53093107
40 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2939C>TSNV Benign/Likely benign 353838 rs7700416 5:52389368-52389368 5:53093538-53093538
41 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2999A>GSNV Benign 353840 rs6880055 5:52389428-52389428 5:53093598-53093598
42 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3385_*3386insGAAAinsertion Benign 353851 rs59915734 5:52389811-52389812 5:53093981-53093982
43 MOCS1 NM_001358530.2(MOCS1):c.*1775_*1778dupduplication Benign 356594 rs112997952 6:39872354-39872355 6:39904578-39904579
44 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3986A>CSNV Benign 353861 rs7725246 5:52390415-52390415 5:53094585-53094585
45 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*721A>CSNV Benign 353796 rs1109527 5:52387150-52387150 5:53091320-53091320
46 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*894C>TSNV Benign 353800 rs1109526 5:52387323-52387323 5:53091493-53091493
47 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2940G>ASNV Benign 353839 rs6898333 5:52389369-52389369 5:53093539-53093539
48 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3026A>GSNV Benign 353841 rs7719848 5:52389455-52389455 5:53093625-53093625
49 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*2041deldeletion Benign 353814 rs35863692 5:52388455-52388455 5:53092625-53092625
50 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*475_*477deldeletion Benign 353792 rs199677547 5:52386902-52386904 5:53091072-53091074

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 KEGG:

36
# Name Kegg Source Accession
1 Folate biosynthesis hsa00790

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 cytosol GO:0005829 9.7 XDH TPI1 PNPO PNP MOCS3 MOCS2
2 molybdopterin synthase complex GO:0019008 8.62 MOCS2 MOCS1

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 9.8 XDH SUOX PNPO GPHN DPYD AOX1
2 purine nucleotide catabolic process GO:0006195 9.37 XDH PNP
3 vitamin B6 metabolic process GO:0042816 9.26 PNPO AOX1
4 molybdopterin cofactor biosynthetic process GO:0032324 9.26 MOCS3 MOCS2 MOCS1 GPHN
5 xanthine catabolic process GO:0009115 9.16 XDH AOX1
6 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.92 MOCS3 MOCS2 MOCS1 GPHN

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.11 XDH SUOX MOCS3 MOCS1 ITGA2 GPHN
2 protein homodimerization activity GO:0042803 9.8 XDH TPI1 PNPO DPYD AOX1
3 oxidoreductase activity GO:0016491 9.77 XDH SUOX PNPO DPYD AOX1
4 catalytic activity GO:0003824 9.63 TPI1 PNP MOCS3 MOCS1 GPHN DPYD
5 flavin adenine dinucleotide binding GO:0050660 9.5 XDH DPYD AOX1
6 FAD binding GO:0071949 9.48 XDH AOX1
7 2 iron, 2 sulfur cluster binding GO:0051537 9.43 XDH AOX1
8 xanthine dehydrogenase activity GO:0004854 9.26 XDH AOX1
9 iron-sulfur cluster binding GO:0051536 9.26 XDH MOCS1 DPYD AOX1
10 molybdopterin cofactor binding GO:0043546 8.92 XDH SUOX GPHN AOX1

Sources for Molybdenum Cofactor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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