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MOCOD
MCID: SLF012
MIFTS: 17

Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency (MOCOD)

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Variations Tissues Related diseases Publications
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Aliases & Classifications for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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

Name: Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 59
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase 59
Mocod 59

Classifications:

MalaCards categories:
Global: Metabolic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 34 E72.1
Orphanet 59 ORPHA99732
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Summaries for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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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.

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Related Diseases for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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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

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

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

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

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Genetic Tests for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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Anatomical Context for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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

41
Eye
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Publications for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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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. 38
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. 38
19544009 2009
3
New insights into the neuropathogenesis of molybdenum cofactor deficiency. 38
11858544 2002
4
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers. 38
10701843 2000
5
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. 38
9634514 1998
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Variations for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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

6 (show top 50) (show all 129)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ITGA2 ; MOCS2 NM_004531.5(MOCS2): c.*321A> G single nucleotide variant Conflicting interpretations of pathogenicity rs73756618 5:52394111-52394111 5:53098281-53098281
2 ITGA2 ; MOCS2 NM_004531.5(MOCS2): c.*171G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191465075 5:52394261-52394261 5:53098431-53098431
3 ITGA2 ; MOCS2 NM_004531.5(MOCS2): c.*44A> C single nucleotide variant Conflicting interpretations of pathogenicity rs367775935 5:52394388-52394388 5:53098558-53098558
4 MOCS2 NM_004531.5(MOCS2): c.296C> T (p.Ala99Val) single nucleotide variant Uncertain significance rs2233217 5:52397270-52397270 5:53101440-53101440
5 MOCS2 NM_004531.5(MOCS2): c.-622G> A single nucleotide variant Uncertain significance rs373522800 5:52405533-52405533 5:53109703-53109703
6 MOCS2 NM_004531.5(MOCS2): c.-664C> A single nucleotide variant Uncertain significance rs764809636 5:52405575-52405575 5:53109745-53109745
7 MOCS2 NM_004531.5(MOCS2): c.*532G> A single nucleotide variant Uncertain significance rs886060695 5:52393900-52393900 5:53098070-53098070
8 MOCS1 NM_001075098.4(MOCS1): c.*1406C> G single nucleotide variant Uncertain significance rs886061386 6:39873495-39873495 6:39905719-39905719
9 MOCS1 NM_001075098.4(MOCS1): c.*1191C> A single nucleotide variant Uncertain significance rs886061387 6:39873710-39873710 6:39905934-39905934
10 MOCS1 NM_001075098.4(MOCS1): c.*1168C> T single nucleotide variant Uncertain significance rs764443066 6:39873733-39873733 6:39905957-39905957
11 MOCS1 NM_001075098.4(MOCS1): c.*903T> G single nucleotide variant Uncertain significance rs370974142 6:39873998-39873998 6:39906222-39906222
12 MOCS1 NM_001075098.4(MOCS1): c.519T> G (p.Ser173Arg) single nucleotide variant Uncertain significance rs61732596 6:39883876-39883876 6:39916132-39916132
13 MOCS1 NM_001075098.4(MOCS1): c.421C> G (p.Gln141Glu) single nucleotide variant Uncertain significance rs368942024 6:39883974-39883974 6:39916230-39916230
14 MOCS1 NM_001075098.4(MOCS1): c.175G> T (p.Ala59Ser) single nucleotide variant Uncertain significance rs770756364 6:39895143-39895143 6:39927404-39927404
15 MOCS1 NM_001075098.4(MOCS1): c.*1527_*1529dup duplication Uncertain significance rs543804008 6:39873372-39873374 6:39905596-39905598
16 MOCS1 NM_001075098.4(MOCS1): c.758-9C> T single nucleotide variant Uncertain significance rs368402544 6:39880757-39880757 6:39913013-39913013
17 MOCS1 NM_001075098.4(MOCS1): c.426C> T (p.Leu142=) single nucleotide variant Uncertain significance rs375882259 6:39883969-39883969 6:39916225-39916225
18 MOCS1 NM_001075098.4(MOCS1): c.*2646G> A single nucleotide variant Uncertain significance rs886061378 6:39872255-39872255 6:39904479-39904479
19 MOCS1 NM_001075098.4(MOCS1): c.*2625G> A single nucleotide variant Uncertain significance rs193217053 6:39872276-39872276 6:39904500-39904500
20 MOCS1 NM_001075098.4(MOCS1): c.*2428_*2431ATAG[3] short repeat Uncertain significance rs112059918 6:39872466-39872469 6:39904690-39904693
21 MOCS1 NM_001075098.4(MOCS1): c.*2396C> T single nucleotide variant Uncertain significance rs766403739 6:39872505-39872505 6:39904729-39904729
22 MOCS1 NM_001075098.4(MOCS1): c.*2201T> A single nucleotide variant Uncertain significance rs745650301 6:39872700-39872700 6:39904924-39904924
23 MOCS1 NM_001075098.4(MOCS1): c.*1885A> C single nucleotide variant Uncertain significance rs886061381 6:39873016-39873016 6:39905240-39905240
24 MOCS1 NM_001075098.4(MOCS1): c.*1830_*1831dup duplication Uncertain significance rs886061382 6:39873070-39873071 6:39905294-39905295
25 MOCS1 NM_001075098.4(MOCS1): c.*1758T> C single nucleotide variant Uncertain significance rs192141515 6:39873143-39873143 6:39905367-39905367
26 MOCS2 NM_004531.5(MOCS2): c.346_349del (p.Val116fs) deletion Uncertain significance rs398122798 5:52397217-52397220 5:53101387-53101390
27 MOCS1 NM_001075098.4(MOCS1): c.853G> A (p.Glu285Lys) single nucleotide variant Uncertain significance rs140243105 6:39880653-39880653 6:39912909-39912909
28 MOCS2 NM_004531.5(MOCS2): c.261C> T (p.Val87=) single nucleotide variant Uncertain significance rs777565219 5:52397305-52397305 5:53101475-53101475
29 MOCS2 NM_176806.3(MOCS2): c.*19-8_*19-5delATTT deletion Uncertain significance rs779872271 5:52398059-52398062 5:53102229-53102232
30 MOCS2 NM_176806.4(MOCS2): c.7C> T (p.Pro3Ser) single nucleotide variant Uncertain significance rs886060696 5:52405553-52405553 5:53109723-53109723
31 MOCS2 NM_176806.4(MOCS2): c.178C> T (p.Arg60Cys) single nucleotide variant Uncertain significance rs146074751 5:52403014-52403014 5:53107184-53107184
32 MOCS2 NM_176806.4(MOCS2): c.117G> A (p.Lys39=) single nucleotide variant Uncertain significance rs773035025 5:52404375-52404375 5:53108545-53108545
33 MOCS2 NM_176806.4(MOCS2): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance rs572637154 5:52405546-52405546 5:53109716-53109716
34 MOCS1 NM_001075098.4(MOCS1): c.*2710C> T single nucleotide variant Uncertain significance rs764671362 6:39872191-39872191 6:39904415-39904415
35 MOCS2 NM_004531.5(MOCS2): c.*372G> A single nucleotide variant Uncertain significance rs753919594 5:52394060-52394060 5:53098230-53098230
36 MOCS1 NM_001075098.4(MOCS1): c.*2634_*2638dup duplication Uncertain significance rs370863199 6:39872263-39872267 6:39904487-39904491
37 MOCS1 NM_001075098.4(MOCS1): c.*2192C> G single nucleotide variant Uncertain significance rs151159237 6:39872709-39872709 6:39904933-39904933
38 MOCS1 NM_001075098.4(MOCS1): c.*2073C> T single nucleotide variant Uncertain significance rs7744483 6:39872828-39872828 6:39905052-39905052
39 MOCS1 NM_001075098.4(MOCS1): c.*1831T> A single nucleotide variant Uncertain significance rs886061383 6:39873070-39873070 6:39905294-39905294
40 MOCS1 NM_001075098.4(MOCS1): c.*770A> G single nucleotide variant Uncertain significance rs767003803 6:39874131-39874131 6:39906355-39906355
41 MOCS1 NM_001075098.4(MOCS1): c.*645T> G single nucleotide variant Uncertain significance rs200764011 6:39874256-39874256 6:39906480-39906480
42 MOCS1 NM_001075098.4(MOCS1): c.*572G> A single nucleotide variant Uncertain significance rs41273140 6:39874329-39874329 6:39906553-39906553
43 MOCS2 NM_004531.5(MOCS2): c.*143G> A single nucleotide variant Uncertain significance rs2233223 5:52394289-52394289 5:53098459-53098459
44 MOCS1 NM_001075098.4(MOCS1): c.*2213C> T single nucleotide variant Uncertain significance rs575187638 6:39872688-39872688 6:39904912-39904912
45 MOCS1 NM_001075098.4(MOCS1): c.*2204C> T single nucleotide variant Uncertain significance rs886061380 6:39872697-39872697 6:39904921-39904921
46 MOCS1 NM_001075098.4(MOCS1): c.*1835A> C single nucleotide variant Uncertain significance rs754337805 6:39873066-39873066 6:39905290-39905290
47 MOCS1 NM_001075098.4(MOCS1): c.*1771G> A single nucleotide variant Uncertain significance rs374341048 6:39873130-39873130 6:39905354-39905354
48 MOCS1 NM_001075098.4(MOCS1): c.*1539_*1540dup duplication Uncertain significance rs886061384 6:39873361-39873362 6:39905585-39905586
49 MOCS1 NM_001075098.4(MOCS1): c.*1530G> A single nucleotide variant Uncertain significance rs115429345 6:39873371-39873371 6:39905595-39905595
50 MOCS1 NM_001075098.4(MOCS1): c.*1507C> T single nucleotide variant Uncertain significance rs886061385 6:39873394-39873394 6:39905618-39905618
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Expression for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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

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GO Terms for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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Sources for Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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