MOCOD
MCID: SLF012
MIFTS: 15

Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency (MOCOD)

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 58
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase 58
Mocod 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 E72.1
Orphanet 58 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 12.2
2 molybdenum cofactor deficiency, complementation group a 11.9
3 molybdenum cofactor deficiency, complementation group b 11.9
4 molybdenum cofactor deficiency, complementation group c 11.9

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:

40
Eye

Publications for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

Articles related to Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency:

# Title Authors PMID Year
1
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. 61
30619713 2019
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. 61
19544009 2009
3
New insights into the neuropathogenesis of molybdenum cofactor deficiency. 61
11858544 2002
4
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers. 61
10701843 2000
5
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. 61
9634514 1998

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 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 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

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