MCID: SLF012
MIFTS: 10

Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

MalaCards integrated aliases for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency:

Name: Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 60
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase 60
Mocod 60

Classifications:



External Ids:

ICD10 via Orphanet 35 E72.1
Orphanet 60 ORPHA99732

Summaries for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

MalaCards based summary : Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency, also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase, is related to molybdenum cofactor deficiency and molybdenum cofactor deficiency, complementation group a. Affiliated tissues include eye.

Related Diseases for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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

# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency 12.1
2 molybdenum cofactor deficiency, complementation group a 11.7
3 molybdenum cofactor deficiency, complementation group b 11.7
4 molybdenum cofactor deficiency, complementation group c 11.7

Symptoms & Phenotypes for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Drugs & Therapeutics for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Search Clinical Trials , NIH Clinical Center for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Genetic Tests for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Anatomical Context for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

MalaCards organs/tissues related to Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency:

42
Eye

Publications for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Variations for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

ClinVar genetic disease variations for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency:

6 (show top 50) (show all 258)
# Gene Variation Type Significance SNP ID Assembly Location
1 MOCS2 NM_176806.3(MOCS2): c.*266_*269delGTCA deletion Uncertain significance rs398122798 GRCh37 Chromosome 5, 52397217: 52397220
2 MOCS2 NM_176806.3(MOCS2): c.*266_*269delGTCA deletion Uncertain significance rs398122798 GRCh38 Chromosome 5, 53101387: 53101390
3 MOCS1 NM_005943.5(MOCS1): c.853G> A (p.Glu285Lys) single nucleotide variant Uncertain significance rs140243105 GRCh37 Chromosome 6, 39880653: 39880653
4 MOCS1 NM_005943.5(MOCS1): c.853G> A (p.Glu285Lys) single nucleotide variant Uncertain significance rs140243105 GRCh38 Chromosome 6, 39912909: 39912909
5 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*721A> C single nucleotide variant Benign rs1109527 GRCh37 Chromosome 5, 52387150: 52387150
6 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*721A> C single nucleotide variant Benign rs1109527 GRCh38 Chromosome 5, 53091320: 53091320
7 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*894C> T single nucleotide variant Benign rs1109526 GRCh37 Chromosome 5, 52387323: 52387323
8 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*894C> T single nucleotide variant Benign rs1109526 GRCh38 Chromosome 5, 53091493: 53091493
9 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> A single nucleotide variant Likely benign rs1900182 GRCh38 Chromosome 5, 53093169: 53093169
10 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> A single nucleotide variant Likely benign rs1900182 GRCh37 Chromosome 5, 52388999: 52388999
11 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> T single nucleotide variant Benign/Likely benign rs1900182 GRCh38 Chromosome 5, 53093169: 53093169
12 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> T single nucleotide variant Benign/Likely benign rs1900182 GRCh37 Chromosome 5, 52388999: 52388999
13 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2574C> G single nucleotide variant Benign/Likely benign rs75427194 GRCh38 Chromosome 5, 53093173: 53093173
14 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2574C> G single nucleotide variant Benign/Likely benign rs75427194 GRCh37 Chromosome 5, 52389003: 52389003
15 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2940G> A single nucleotide variant Benign rs6898333 GRCh38 Chromosome 5, 53093539: 53093539
16 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2940G> A single nucleotide variant Benign rs6898333 GRCh37 Chromosome 5, 52389369: 52389369
17 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3026A> G single nucleotide variant Benign rs7719848 GRCh37 Chromosome 5, 52389455: 52389455
18 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3026A> G single nucleotide variant Benign rs7719848 GRCh38 Chromosome 5, 53093625: 53093625
19 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3164G> A single nucleotide variant Benign/Likely benign rs7737412 GRCh37 Chromosome 5, 52389593: 52389593
20 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3164G> A single nucleotide variant Benign/Likely benign rs7737412 GRCh38 Chromosome 5, 53093763: 53093763
21 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3986A> C single nucleotide variant Benign rs7725246 GRCh37 Chromosome 5, 52390415: 52390415
22 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3986A> C single nucleotide variant Benign rs7725246 GRCh38 Chromosome 5, 53094585: 53094585
23 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*4098C> G single nucleotide variant Benign/Likely benign rs10471830 GRCh38 Chromosome 5, 53094697: 53094697
24 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*4098C> G single nucleotide variant Benign/Likely benign rs10471830 GRCh37 Chromosome 5, 52390527: 52390527
25 MOCS2 NM_176806.3(MOCS2): c.*181C> T single nucleotide variant Uncertain significance rs777565219 GRCh37 Chromosome 5, 52397305: 52397305
26 MOCS2 NM_176806.3(MOCS2): c.*181C> T single nucleotide variant Uncertain significance rs777565219 GRCh38 Chromosome 5, 53101475: 53101475
27 MOCS2 NM_176806.3(MOCS2): c.*19-8_*19-5delATTT deletion Uncertain significance rs779872271 GRCh37 Chromosome 5, 52398059: 52398062
28 MOCS2 NM_176806.3(MOCS2): c.*19-8_*19-5delATTT deletion Uncertain significance rs779872271 GRCh38 Chromosome 5, 53102229: 53102232
29 MOCS2 NM_176806.3(MOCS2): c.7C> T (p.Pro3Ser) single nucleotide variant Uncertain significance rs886060696 GRCh37 Chromosome 5, 52405553: 52405553
30 MOCS2 NM_176806.3(MOCS2): c.7C> T (p.Pro3Ser) single nucleotide variant Uncertain significance rs886060696 GRCh38 Chromosome 5, 53109723: 53109723
31 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*760_*761insTTAT insertion Benign/Likely benign rs3212652 GRCh38 Chromosome 5, 53091359: 53091360
32 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*760_*761insTTAT insertion Benign/Likely benign rs3212652 GRCh37 Chromosome 5, 52387189: 52387190
33 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*1252G> A single nucleotide variant Benign/Likely benign rs1042324 GRCh37 Chromosome 5, 52387681: 52387681
34 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*1252G> A single nucleotide variant Benign/Likely benign rs1042324 GRCh38 Chromosome 5, 53091851: 53091851
35 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2517_*2520delCAAA deletion Benign/Likely benign rs72277253 GRCh37 Chromosome 5, 52388946: 52388949
36 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2517_*2520delCAAA deletion Benign/Likely benign rs72277253 GRCh38 Chromosome 5, 53093116: 53093119
37 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3385_*3386insGAAA insertion Benign rs59915734 GRCh38 Chromosome 5, 53093984: 53093985
38 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3385_*3386insGAAA insertion Benign rs59915734 GRCh37 Chromosome 5, 52389814: 52389815
39 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3763_*3764delAA deletion Benign/Likely benign rs145759303 GRCh38 Chromosome 5, 53094362: 53094363
40 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*3763_*3764delAA deletion Benign/Likely benign rs145759303 GRCh37 Chromosome 5, 52390192: 52390193
41 MOCS2 NM_176806.3(MOCS2): c.*859G> A single nucleotide variant Uncertain significance rs753919594 GRCh37 Chromosome 5, 52394060: 52394060
42 MOCS2 NM_176806.3(MOCS2): c.*859G> A single nucleotide variant Uncertain significance rs753919594 GRCh38 Chromosome 5, 53098230: 53098230
43 MOCS2 NM_176806.3(MOCS2): c.*68A> G single nucleotide variant Likely benign rs2233213 GRCh37 Chromosome 5, 52398005: 52398005
44 MOCS2 NM_176806.3(MOCS2): c.*68A> G single nucleotide variant Likely benign rs2233213 GRCh38 Chromosome 5, 53102175: 53102175
45 MOCS2 NM_176806.3(MOCS2): c.178C> T (p.Arg60Cys) single nucleotide variant Uncertain significance rs146074751 GRCh37 Chromosome 5, 52403014: 52403014
46 MOCS2 NM_176806.3(MOCS2): c.178C> T (p.Arg60Cys) single nucleotide variant Uncertain significance rs146074751 GRCh38 Chromosome 5, 53107184: 53107184
47 MOCS2 NM_176806.3(MOCS2): c.117G> A (p.Lys39=) single nucleotide variant Uncertain significance rs773035025 GRCh37 Chromosome 5, 52404375: 52404375
48 MOCS2 NM_176806.3(MOCS2): c.117G> A (p.Lys39=) single nucleotide variant Uncertain significance rs773035025 GRCh38 Chromosome 5, 53108545: 53108545
49 MOCS2 NM_176806.3(MOCS2): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance rs572637154 GRCh37 Chromosome 5, 52405546: 52405546
50 MOCS2 NM_176806.3(MOCS2): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance rs572637154 GRCh38 Chromosome 5, 53109716: 53109716

Expression for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Search GEO for disease gene expression data for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency.

Pathways for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

GO Terms for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Sources for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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