Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency (MOCOD)

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

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

Mocod 58

Classifications:

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

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	Hannah-Shmouni F...Inbar-Feigenberg M	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	Arenas M...Marinaki AM	19544009	2009
3	New insights into the neuropathogenesis of molybdenum cofactor deficiency. 61	Salman MS...Becker L	11858544	2002
4	Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers. 61	Shalata A...Cohen N	10701843	2000
5	Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. 61	Shalata A...Cohen N	9634514	1998

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

⁶ (show top 50) (show all 129) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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>T	SNV	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>G	SNV	Conflicting interpretations of pathogenicity	353872	rs73756618	5:52394111-52394111	5:53098281-53098281
5	ITGA2 , MOCS2	NM_004531.5(MOCS2):c.*171G>C	SNV	Conflicting interpretations of pathogenicity	353873	rs191465075	5:52394261-52394261	5:53098431-53098431
6	ITGA2 , MOCS2	NM_004531.5(MOCS2):c.*44A>C	SNV	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>A	SNV	Uncertain significance	353883	rs373522800	5:52405533-52405533	5:53109703-53109703
9	MOCS2	NM_004531.5(MOCS2):c.-664C>A	SNV	Uncertain significance	353886	rs764809636	5:52405575-52405575	5:53109745-53109745
10	MOCS2	NM_004531.5(MOCS2):c.*532G>A	SNV	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>G	SNV	Uncertain significance	356628	rs886061386	6:39873495-39873495	6:39905719-39905719
14	MOCS1	NM_001358530.2(MOCS1):c.*423C>A	SNV	Uncertain significance	356633	rs886061387	6:39873710-39873710	6:39905934-39905934
15	MOCS1	NM_001358530.2(MOCS1):c.*400C>T	SNV	Uncertain significance	356634	rs764443066	6:39873733-39873733	6:39905957-39905957
16	MOCS1	NM_001358530.2(MOCS1):c.*135T>G	SNV	Uncertain significance	356637	rs370974142	6:39873998-39873998	6:39906222-39906222
17	MOCS1	NM_001358530.2(MOCS1):c.*759_*761dup	duplication	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>A	SNV	Uncertain significance	356591	rs886061378	6:39872255-39872255	6:39904479-39904479
20	MOCS1	NM_001358530.2(MOCS1):c.*1857G>A	SNV	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>T	SNV	Uncertain significance	356599	rs766403739	6:39872505-39872505	6:39904729-39904729
23	MOCS1	NM_001358530.2(MOCS1):c.*1433T>A	SNV	Uncertain significance	356602	rs745650301	6:39872700-39872700	6:39904924-39904924
24	MOCS1	NM_001358530.2(MOCS1):c.*1117A>C	SNV	Uncertain significance	356610	rs886061381	6:39873016-39873016	6:39905240-39905240
25	MOCS1	NM_001358530.2(MOCS1):c.*1062_*1063dup	duplication	Uncertain significance	356613	rs886061382	6:39873069-39873070	6:39905293-39905294
26	MOCS1	NM_001358530.2(MOCS1):c.*990T>C	SNV	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_99-5del	deletion	Uncertain significance	353880	rs779872271	5:52398059-52398062	5:53102229-53102232
30	MOCS2	NM_004531.5(MOCS2):c.-642C>T	SNV	Uncertain significance	353885	rs886060696	5:52405553-52405553	5:53109723-53109723
31	MOCS2	NM_004531.5(MOCS2):c.-10C>T	SNV	Uncertain significance	353881	rs146074751	5:52403014-52403014	5:53107184-53107184
32	MOCS2	NM_004531.5(MOCS2):c.-71G>A	SNV	Uncertain significance	353882	rs773035025	5:52404375-52404375	5:53108545-53108545
33	MOCS2	NM_004531.5(MOCS2):c.-635G>A	SNV	Uncertain significance	353884	rs572637154	5:52405546-52405546	5:53109716-53109716
34	MOCS1	NM_001358530.2(MOCS1):c.*1942C>T	SNV	Uncertain significance	356587	rs764671362	6:39872191-39872191	6:39904415-39904415
35	MOCS2	NM_004531.5(MOCS2):c.*372G>A	SNV	Uncertain significance	353871	rs753919594	5:52394060-52394060	5:53098230-53098230
36	MOCS1	NM_001358530.2(MOCS1):c.*1866_*1870dup	duplication	Uncertain significance	356592	rs370863199	6:39872262-39872263	6:39904486-39904487
37	MOCS1	NM_001358530.2(MOCS1):c.*1424C>G	SNV	Uncertain significance	356603	rs151159237	6:39872709-39872709	6:39904933-39904933
38	MOCS1	NM_001358530.2(MOCS1):c.*1305C>T	SNV	Uncertain significance	356608	rs7744483	6:39872828-39872828	6:39905052-39905052
39	MOCS1	NM_001358530.2(MOCS1):c.*1063T>A	SNV	Uncertain significance	356614	rs886061383	6:39873070-39873070	6:39905294-39905294
40	MOCS1	NM_001358530.2(MOCS1):c.*2A>G	SNV	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>A	SNV	Uncertain significance	353874	rs2233223	5:52394289-52394289	5:53098459-53098459
44	MOCS1	NM_001358530.2(MOCS1):c.*1445C>T	SNV	Uncertain significance	356600	rs575187638	6:39872688-39872688	6:39904912-39904912
45	MOCS1	NM_001358530.2(MOCS1):c.*1436C>T	SNV	Uncertain significance	356601	rs886061380	6:39872697-39872697	6:39904921-39904921
46	MOCS1	NM_001358530.2(MOCS1):c.*1067A>C	SNV	Uncertain significance	356612	rs754337805	6:39873066-39873066	6:39905290-39905290
47	MOCS1	NM_001358530.2(MOCS1):c.*1003G>A	SNV	Uncertain significance	356615	rs374341048	6:39873130-39873130	6:39905354-39905354
48	MOCS1	NM_001358530.2(MOCS1):c.*771_*772dup	duplication	Uncertain significance	356622	rs886061384	6:39873360-39873361	6:39905584-39905585
49	MOCS1	NM_001358530.2(MOCS1):c.*762G>A	SNV	Uncertain significance	356624	rs115429345	6:39873371-39873371	6:39905595-39905595
50	MOCS1	NM_001358530.2(MOCS1):c.*739C>T	SNV	Uncertain significance	356625	rs886061385	6:39873394-39873394	6:39905618-39905618