MOCOD
MCID: SLF012
MIFTS: 16

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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MOCS1 NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)SNV Conflicting interpretations of pathogenicity 242558 rs140243105 6:39880653-39880653 6:39912909-39912909
2 MOCS1 NM_001358530.2(MOCS1):c.758-9C>TSNV Conflicting interpretations of pathogenicity 356656 rs368402544 6:39880757-39880757 6:39913013-39913013
3 MOCS1 NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg)SNV Conflicting interpretations of pathogenicity 356664 rs61732596 6:39883876-39883876 6:39916132-39916132
4 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*321A>GSNV Conflicting interpretations of pathogenicity 353872 rs73756618 5:52394111-52394111 5:53098281-53098281
5 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*171G>CSNV Conflicting interpretations of pathogenicity 353873 rs191465075 5:52394261-52394261 5:53098431-53098431
6 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*44A>CSNV Conflicting interpretations of pathogenicity 353875 rs367775935 5:52394388-52394388 5:53098558-53098558
7 MOCS2 NM_004531.5(MOCS2):c.296C>T (p.Ala99Val)SNV Uncertain significance 353876 rs2233217 5:52397270-52397270 5:53101440-53101440
8 MOCS2 NM_004531.5(MOCS2):c.-622G>ASNV Uncertain significance 353883 rs373522800 5:52405533-52405533 5:53109703-53109703
9 MOCS2 NM_004531.5(MOCS2):c.-664C>ASNV Uncertain significance 353886 rs764809636 5:52405575-52405575 5:53109745-53109745
10 MOCS2 NM_004531.5(MOCS2):c.*532G>ASNV Uncertain significance 353869 rs886060695 5:52393900-52393900 5:53098070-53098070
11 MOCS1 NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu)SNV Uncertain significance 356666 rs368942024 6:39883974-39883974 6:39916230-39916230
12 MOCS1 NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser)SNV Uncertain significance 356670 rs770756364 6:39895143-39895143 6:39927404-39927404
13 MOCS1 NM_001358530.2(MOCS1):c.*638C>GSNV Uncertain significance 356628 rs886061386 6:39873495-39873495 6:39905719-39905719
14 MOCS1 NM_001358530.2(MOCS1):c.*423C>ASNV Uncertain significance 356633 rs886061387 6:39873710-39873710 6:39905934-39905934
15 MOCS1 NM_001358530.2(MOCS1):c.*400C>TSNV Uncertain significance 356634 rs764443066 6:39873733-39873733 6:39905957-39905957
16 MOCS1 NM_001358530.2(MOCS1):c.*135T>GSNV Uncertain significance 356637 rs370974142 6:39873998-39873998 6:39906222-39906222
17 MOCS1 NM_001358530.2(MOCS1):c.*759_*761dupduplication Uncertain significance 356623 rs543804008 6:39873371-39873372 6:39905595-39905596
18 MOCS1 NM_001358530.2(MOCS1):c.426C>T (p.Leu142=)SNV Uncertain significance 356665 rs375882259 6:39883969-39883969 6:39916225-39916225
19 MOCS1 NM_001358530.2(MOCS1):c.*1878G>ASNV Uncertain significance 356591 rs886061378 6:39872255-39872255 6:39904479-39904479
20 MOCS1 NM_001358530.2(MOCS1):c.*1857G>ASNV Uncertain significance 356593 rs193217053 6:39872276-39872276 6:39904500-39904500
21 MOCS1 NM_001358530.2(MOCS1):c.*1660_*1663ATAG[3]short repeat Uncertain significance 356596 rs112059918 6:39872465-39872466 6:39904689-39904690
22 MOCS1 NM_001358530.2(MOCS1):c.*1628C>TSNV Uncertain significance 356599 rs766403739 6:39872505-39872505 6:39904729-39904729
23 MOCS1 NM_001358530.2(MOCS1):c.*1433T>ASNV Uncertain significance 356602 rs745650301 6:39872700-39872700 6:39904924-39904924
24 MOCS1 NM_001358530.2(MOCS1):c.*1117A>CSNV Uncertain significance 356610 rs886061381 6:39873016-39873016 6:39905240-39905240
25 MOCS1 NM_001358530.2(MOCS1):c.*1062_*1063dupduplication Uncertain significance 356613 rs886061382 6:39873069-39873070 6:39905293-39905294
26 MOCS1 NM_001358530.2(MOCS1):c.*990T>CSNV Uncertain significance 356617 rs192141515 6:39873143-39873143 6:39905367-39905367
27 MOCS2 NM_004531.5(MOCS2):c.346_349del (p.Val116fs)deletion Uncertain significance 6110 rs398122798 5:52397217-52397220 5:53101387-53101390
28 MOCS2 NM_004531.5(MOCS2):c.261C>T (p.Val87=)SNV Uncertain significance 353877 rs777565219 5:52397305-52397305 5:53101475-53101475
29 MOCS2 NM_004531.5(MOCS2):c.99-8_99-5deldeletion Uncertain significance 353880 rs779872271 5:52398059-52398062 5:53102229-53102232
30 MOCS2 NM_004531.5(MOCS2):c.-642C>TSNV Uncertain significance 353885 rs886060696 5:52405553-52405553 5:53109723-53109723
31 MOCS2 NM_004531.5(MOCS2):c.-10C>TSNV Uncertain significance 353881 rs146074751 5:52403014-52403014 5:53107184-53107184
32 MOCS2 NM_004531.5(MOCS2):c.-71G>ASNV Uncertain significance 353882 rs773035025 5:52404375-52404375 5:53108545-53108545
33 MOCS2 NM_004531.5(MOCS2):c.-635G>ASNV Uncertain significance 353884 rs572637154 5:52405546-52405546 5:53109716-53109716
34 MOCS1 NM_001358530.2(MOCS1):c.*1942C>TSNV Uncertain significance 356587 rs764671362 6:39872191-39872191 6:39904415-39904415
35 MOCS2 NM_004531.5(MOCS2):c.*372G>ASNV Uncertain significance 353871 rs753919594 5:52394060-52394060 5:53098230-53098230
36 MOCS1 NM_001358530.2(MOCS1):c.*1866_*1870dupduplication Uncertain significance 356592 rs370863199 6:39872262-39872263 6:39904486-39904487
37 MOCS1 NM_001358530.2(MOCS1):c.*1424C>GSNV Uncertain significance 356603 rs151159237 6:39872709-39872709 6:39904933-39904933
38 MOCS1 NM_001358530.2(MOCS1):c.*1305C>TSNV Uncertain significance 356608 rs7744483 6:39872828-39872828 6:39905052-39905052
39 MOCS1 NM_001358530.2(MOCS1):c.*1063T>ASNV Uncertain significance 356614 rs886061383 6:39873070-39873070 6:39905294-39905294
40 MOCS1 NM_001358530.2(MOCS1):c.*2A>GSNV Uncertain significance 356639 rs767003803 6:39874131-39874131 6:39906355-39906355
41 MOCS1 NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=)SNV Uncertain significance 356641 rs200764011 6:39874256-39874256 6:39906480-39906480
42 MOCS1 NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His)SNV Uncertain significance 356643 rs41273140 6:39874329-39874329 6:39906553-39906553
43 MOCS2 NM_004531.5(MOCS2):c.*143G>ASNV Uncertain significance 353874 rs2233223 5:52394289-52394289 5:53098459-53098459
44 MOCS1 NM_001358530.2(MOCS1):c.*1445C>TSNV Uncertain significance 356600 rs575187638 6:39872688-39872688 6:39904912-39904912
45 MOCS1 NM_001358530.2(MOCS1):c.*1436C>TSNV Uncertain significance 356601 rs886061380 6:39872697-39872697 6:39904921-39904921
46 MOCS1 NM_001358530.2(MOCS1):c.*1067A>CSNV Uncertain significance 356612 rs754337805 6:39873066-39873066 6:39905290-39905290
47 MOCS1 NM_001358530.2(MOCS1):c.*1003G>ASNV Uncertain significance 356615 rs374341048 6:39873130-39873130 6:39905354-39905354
48 MOCS1 NM_001358530.2(MOCS1):c.*771_*772dupduplication Uncertain significance 356622 rs886061384 6:39873360-39873361 6:39905584-39905585
49 MOCS1 NM_001358530.2(MOCS1):c.*762G>ASNV Uncertain significance 356624 rs115429345 6:39873371-39873371 6:39905595-39905595
50 MOCS1 NM_001358530.2(MOCS1):c.*739C>TSNV Uncertain significance 356625 rs886061385 6:39873394-39873394 6:39905618-39905618

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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