MCID: SLF014
MIFTS: 38

Sulfite Oxidase Deficiency, Isolated

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

Aliases & Classifications for Sulfite Oxidase Deficiency, Isolated

MalaCards integrated aliases for Sulfite Oxidase Deficiency, Isolated:

Name: Sulfite Oxidase Deficiency, Isolated 57 29 6
Sulfite Oxidase Deficiency 57 76 53 37 29 13 55 6 40 73
Sulfocysteinuria 57 24 53 25 59 75 73
Isolated Sulfite Oxidase Deficiency 24 25 59 75
Isod 57 25 59 75
Encephalopathy Due to Sulfite Oxidase Deficiency 25 59
Sulfite Oxidase 13

Characteristics:

Orphanet epidemiological data:

59
encephalopathy due to sulfite oxidase deficiency
Inheritance: Autosomal recessive; Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

32
sulfite oxidase deficiency, isolated:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sulfite Oxidase Deficiency, Isolated

Genetics Home Reference : 25 Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.

MalaCards based summary : Sulfite Oxidase Deficiency, Isolated, also known as sulfite oxidase deficiency, is related to sulfite oxidase deficiency due to molybdenum cofactor deficiency and molybdenum cofactor deficiency, complementation group a, and has symptoms including ataxia and seizures. An important gene associated with Sulfite Oxidase Deficiency, Isolated is SUOX (Sulfite Oxidase), and among its related pathways/superpathways is Sulfur metabolism. The drugs Molybdenum and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are seizures and ataxia

UniProtKB/Swiss-Prot : 75 Isolated sulfite oxidase deficiency: Characterized by neurological abnormalities including multicystic leukoencephalopathy with brain atrophy. Patients often suffer from seizures. Often leads to death at an early age.

Wikipedia : 76 Sulfite oxidase (EC 1.8.3.1) is an enzyme in the mitochondria of all eukaryotes.[citation needed] It... more...

Description from OMIM: 272300
GeneReviews: NBK453433

Related Diseases for Sulfite Oxidase Deficiency, Isolated

Diseases related to Sulfite Oxidase Deficiency, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sulfite oxidase deficiency due to molybdenum cofactor deficiency 12.2
2 molybdenum cofactor deficiency, complementation group a 11.2
3 molybdenum cofactor deficiency, complementation group b 11.2
4 molybdenum cofactor deficiency, complementation group c 11.2
5 molybdenum cofactor deficiency 10.1
6 leigh syndrome 10.0
7 hyperekplexia 10.0
8 infantile epileptic encephalopathy 10.0
9 neuronitis 10.0
10 encephalopathy 10.0

Graphical network of the top 20 diseases related to Sulfite Oxidase Deficiency, Isolated:



Diseases related to Sulfite Oxidase Deficiency, Isolated

Symptoms & Phenotypes for Sulfite Oxidase Deficiency, Isolated

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
hypertonia
choreoathetosis
generalized dystonia
more
Skin Nails Hair Hair:
fine hair

Skin Nails Hair Skin:
mild eczema

Laboratory Abnormalities:
decreased sulfite oxidase activity in fibroblasts
increased urinary sulfite
decreased urinary sulfate

Head And Neck Eyes:
ectopia lentis

Head And Neck Teeth:
delayed teething

Neurologic Behavioral Psychiatric Manifestations:
restlessness, agitation, crying under stress


Clinical features from OMIM:

272300

Human phenotypes related to Sulfite Oxidase Deficiency, Isolated:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
4 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
9 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
10 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
11 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
12 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
13 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
14 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
15 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
16 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
17 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
18 ectopia lentis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001083
19 spastic tetraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001285
20 abnormal pattern of respiration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002793
21 spasticity 59 Very frequent (99-80%)
22 global developmental delay 32 HP:0001263
23 hypertonia 32 HP:0001276
24 delayed eruption of teeth 32 HP:0000684
25 agitation 32 HP:0000713
26 fine hair 32 HP:0002213
27 eczema 32 HP:0000964
28 choreoathetosis 32 HP:0001266
29 hemiplegia 32 HP:0002301
30 generalized dystonia 32 HP:0007325
31 generalized hypotonia 32 HP:0001290
32 infantile muscular hypotonia 32 HP:0008947
33 increased urinary sulfite 32 HP:0011942
34 decreased urinary sulfate 32 HP:0003359
35 sulfite oxidase deficiency 32 HP:0003643

UMLS symptoms related to Sulfite Oxidase Deficiency, Isolated:


ataxia, seizures

Drugs & Therapeutics for Sulfite Oxidase Deficiency, Isolated

Drugs for Sulfite Oxidase Deficiency, Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Molybdenum Approved 7439-98-7 185498
2 Micronutrients
3 Trace Elements

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies Completed NCT01735188

Search NIH Clinical Center for Sulfite Oxidase Deficiency, Isolated

Genetic Tests for Sulfite Oxidase Deficiency, Isolated

Genetic tests related to Sulfite Oxidase Deficiency, Isolated:

# Genetic test Affiliating Genes
1 Sulfite Oxidase Deficiency 29 SUOX
2 Sulfite Oxidase Deficiency, Isolated 29

Anatomical Context for Sulfite Oxidase Deficiency, Isolated

MalaCards organs/tissues related to Sulfite Oxidase Deficiency, Isolated:

41
Brain, Eye, Testes

Publications for Sulfite Oxidase Deficiency, Isolated

Articles related to Sulfite Oxidase Deficiency, Isolated:

(show top 50) (show all 54)
# Title Authors Year
1
Bezafibrate prevents mitochondrial dysfunction, antioxidant system disturbance, glial reactivity and neuronal damage induced by sulfite administration in striatum of rats: Implications for a possible therapeutic strategy for sulfite oxidase deficiency. ( 28529047 )
2017
2
A compound heterozygote case of isolated sulfite oxidase deficiency. ( 28725568 )
2017
3
Prenatal brain disruption in isolated sulfite oxidase deficiency. ( 28629418 )
2017
4
Isolated sulfite oxidase deficiency. ( 25758000 )
2015
5
Oxygen reactivity of mammalian sulfite oxidase provides a concept for the treatment of sulfite oxidase deficiency. ( 26171830 )
2015
6
Neurologic injury in isolated sulfite oxidase deficiency. ( 24384336 )
2014
7
Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion. ( 24938149 )
2014
8
Sulfite oxidase deficiency - An unusual late and mild presentation. ( 23452914 )
2014
9
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. ( 24756183 )
2014
10
Sulfite oxidase deficiency in a newborn. ( 25073245 )
2014
11
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. ( 23994568 )
2013
12
Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency. ( 24035933 )
2013
13
Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency. ( 23250141 )
2013
14
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. ( 23414711 )
2013
15
a8^a8^mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency. ( 22704016 )
2012
16
Clinical and imaging observations in isolated sulfite oxidase deficiency. ( 21572056 )
2011
17
Spinal reflexes in normal and sulfite oxidase deficient rats: effect of sulfite exposure. ( 18842692 )
2008
18
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. ( 17607604 )
2007
19
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. ( 17940249 )
2007
20
Visual evoked potentials in normal and sulfite oxidase deficient rats exposed to ingested sulfite. ( 16150492 )
2006
21
Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. ( 16970890 )
2006
22
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. ( 15952210 )
2005
23
Structural insights into sulfite oxidase deficiency. ( 16048997 )
2005
24
Effect of sulfite on red blood cell deformability ex vivo and in normal and sulfite oxidase-deficient rats in vivo. ( 15827731 )
2005
25
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. ( 16140720 )
2005
26
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. ( 16234925 )
2005
27
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. ( 12533804 )
2003
28
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. ( 12112661 )
2002
29
Isolated sulfite oxidase deficiency: MR imaging features. ( 11901024 )
2002
30
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis. ( 12001203 )
2002
31
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography. ( 11825068 )
2002
32
Isolated sulfite oxidase deficiency: review of two cases in one family. ( 10519592 )
1999
33
Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. ( 9600976 )
1998
34
[Isolated sulfite oxidase deficiency]. ( 9645040 )
1998
35
Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. ( 9428520 )
1997
36
Isolated sulfite oxidase deficiency. ( 9050047 )
1996
37
Screening for sulfite oxidase deficiency with urinary thiosulfate/sulfate ratios determined by anion chromatography. ( 8605694 )
1996
38
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. ( 8531042 )
1995
39
[Sulfite oxidase deficiency presenting as Leigh syndrome]. ( 7834040 )
1994
40
Isolated Sulfite Oxidase Deficiency ( 28933809 )
1993
41
Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. ( 2915798 )
1989
42
A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency. ( 3888441 )
1985
43
Ampicillin interference with test for sulfite oxidase deficiency. ( 6848268 )
1983
44
Iodine-Azide spot test in screening for sulfite-oxidase deficiency. ( 7074847 )
1982
45
Sulfite oxidase deficiency: a high risk factor in SO2, sulfite, and bisulfite toxicity? ( 7219240 )
1981
46
2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency. ( 6784974 )
1981
47
Simultaneous occurrence of xanthine oxidase and sulfite oxidase deficiency. A molybdenum dependent inborn error of metabolism? ( 583402 )
1979
48
A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of SAPrbo's method. ( 509724 )
1979
49
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. ( 302914 )
1977
50
Sulfite oxidase deficiency. ( 869598 )
1977

Variations for Sulfite Oxidase Deficiency, Isolated

UniProtKB/Swiss-Prot genetic disease variations for Sulfite Oxidase Deficiency, Isolated:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 SUOX p.Arg217Gln VAR_002200 rs121908007
2 SUOX p.Ala265Asp VAR_002201 rs121908008
3 SUOX p.Ser427Tyr VAR_002202
4 SUOX p.Gly530Asp VAR_002203 rs121908009
5 SUOX p.Ile258Leu VAR_015724
6 SUOX p.Arg268Gln VAR_015725 rs1041681662Isolated
7 SUOX p.Gly362Ser VAR_015726 rs757559168
8 SUOX p.Arg366His VAR_015727 rs776690106
9 SUOX p.Lys379Arg VAR_015728 rs777114729
10 SUOX p.Gln396Arg VAR_015729
11 SUOX p.Trp450Arg VAR_015730

ClinVar genetic disease variations for Sulfite Oxidase Deficiency, Isolated:

6
(show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 SUOX NM_000456.2(SUOX): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic rs121908007 GRCh37 Chromosome 12, 56397823: 56397823
2 SUOX NM_000456.2(SUOX): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic rs121908007 GRCh38 Chromosome 12, 56004039: 56004039
3 SUOX NM_000456.2(SUOX): c.794C> A (p.Ala265Asp) single nucleotide variant Pathogenic rs121908008 GRCh37 Chromosome 12, 56397967: 56397967
4 SUOX NM_000456.2(SUOX): c.794C> A (p.Ala265Asp) single nucleotide variant Pathogenic rs121908008 GRCh38 Chromosome 12, 56004183: 56004183
5 SUOX SUOX, SER370TYR single nucleotide variant Pathogenic
6 SUOX NM_000456.2(SUOX): c.1589G> A (p.Gly530Asp) single nucleotide variant Pathogenic rs121908009 GRCh37 Chromosome 12, 56398762: 56398762
7 SUOX NM_000456.2(SUOX): c.1589G> A (p.Gly530Asp) single nucleotide variant Pathogenic rs121908009 GRCh38 Chromosome 12, 56004978: 56004978
8 SUOX SUOX, 1-BP DEL, 1244G deletion Pathogenic
9 SUOX NM_000456.2(SUOX): c.332T> A (p.Val111Asp) single nucleotide variant Likely pathogenic rs794729211 GRCh37 Chromosome 12, 56397505: 56397505
10 SUOX NM_000456.2(SUOX): c.332T> A (p.Val111Asp) single nucleotide variant Likely pathogenic rs794729211 GRCh38 Chromosome 12, 56003721: 56003721
11 SUOX NM_000456.2(SUOX): c.1358G> A (p.Gly453Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs76537761 GRCh38 Chromosome 12, 56004747: 56004747
12 SUOX NM_000456.2(SUOX): c.1358G> A (p.Gly453Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs76537761 GRCh37 Chromosome 12, 56398531: 56398531
13 SUOX NM_000456.2(SUOX): c.-326A> T single nucleotide variant Uncertain significance rs143315090 GRCh38 Chromosome 12, 55997259: 55997259
14 SUOX NM_000456.2(SUOX): c.-326A> T single nucleotide variant Uncertain significance rs143315090 GRCh37 Chromosome 12, 56391043: 56391043
15 SUOX NM_000456.2(SUOX): c.-158C> T single nucleotide variant Likely benign rs705703 GRCh38 Chromosome 12, 55997702: 55997702
16 SUOX NM_000456.2(SUOX): c.-158C> T single nucleotide variant Likely benign rs705703 GRCh37 Chromosome 12, 56391486: 56391486
17 SUOX NM_000456.2(SUOX): c.-151G> C single nucleotide variant Uncertain significance rs886049680 GRCh37 Chromosome 12, 56391493: 56391493
18 SUOX NM_000456.2(SUOX): c.-151G> C single nucleotide variant Uncertain significance rs886049680 GRCh38 Chromosome 12, 55997709: 55997709
19 SUOX NM_000456.2(SUOX): c.23T> C (p.Val8Ala) single nucleotide variant Uncertain significance rs537720526 GRCh38 Chromosome 12, 56002244: 56002244
20 SUOX NM_000456.2(SUOX): c.23T> C (p.Val8Ala) single nucleotide variant Uncertain significance rs537720526 GRCh37 Chromosome 12, 56396028: 56396028
21 SUOX NM_000456.2(SUOX): c.50+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368327991 GRCh38 Chromosome 12, 56002280: 56002280
22 SUOX NM_000456.2(SUOX): c.50+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368327991 GRCh37 Chromosome 12, 56396064: 56396064
23 SUOX NM_000456.2(SUOX): c.1050T> C (p.Tyr350=) single nucleotide variant Uncertain significance rs184819190 GRCh38 Chromosome 12, 56004439: 56004439
24 SUOX NM_000456.2(SUOX): c.1050T> C (p.Tyr350=) single nucleotide variant Uncertain significance rs184819190 GRCh37 Chromosome 12, 56398223: 56398223
25 SUOX NM_000456.2(SUOX): c.1281G> T (p.Ser427=) single nucleotide variant Likely benign rs773115 GRCh37 Chromosome 12, 56398454: 56398454
26 SUOX NM_000456.2(SUOX): c.1281G> T (p.Ser427=) single nucleotide variant Likely benign rs773115 GRCh38 Chromosome 12, 56004670: 56004670
27 SUOX NM_000456.2(SUOX): c.1282G> A (p.Ala428Thr) single nucleotide variant Uncertain significance rs553699159 GRCh37 Chromosome 12, 56398455: 56398455
28 SUOX NM_000456.2(SUOX): c.1282G> A (p.Ala428Thr) single nucleotide variant Uncertain significance rs553699159 GRCh38 Chromosome 12, 56004671: 56004671
29 SUOX NM_000456.2(SUOX): c.*187G> T single nucleotide variant Uncertain significance rs886049684 GRCh37 Chromosome 12, 56398998: 56398998
30 SUOX NM_000456.2(SUOX): c.*187G> T single nucleotide variant Uncertain significance rs886049684 GRCh38 Chromosome 12, 56005214: 56005214
31 SUOX NM_000456.2(SUOX): c.-322C> T single nucleotide variant Uncertain significance rs886049678 GRCh38 Chromosome 12, 55997263: 55997263
32 SUOX NM_000456.2(SUOX): c.-322C> T single nucleotide variant Uncertain significance rs886049678 GRCh37 Chromosome 12, 56391047: 56391047
33 SUOX NM_000456.2(SUOX): c.-211G> A single nucleotide variant Uncertain significance rs773650494 GRCh38 Chromosome 12, 55997649: 55997649
34 SUOX NM_000456.2(SUOX): c.-211G> A single nucleotide variant Uncertain significance rs773650494 GRCh37 Chromosome 12, 56391433: 56391433
35 SUOX NM_000456.2(SUOX): c.228G> T (p.Arg76Ser) single nucleotide variant Uncertain significance rs202085145 GRCh38 Chromosome 12, 56002720: 56002720
36 SUOX NM_000456.2(SUOX): c.228G> T (p.Arg76Ser) single nucleotide variant Uncertain significance rs202085145 GRCh37 Chromosome 12, 56396504: 56396504
37 SUOX NM_000456.2(SUOX): c.279C> T (p.His93=) single nucleotide variant Uncertain significance rs763253683 GRCh38 Chromosome 12, 56003668: 56003668
38 SUOX NM_000456.2(SUOX): c.279C> T (p.His93=) single nucleotide variant Uncertain significance rs763253683 GRCh37 Chromosome 12, 56397452: 56397452
39 SUOX NM_000456.2(SUOX): c.507C> T (p.Thr169=) single nucleotide variant Uncertain significance rs765012855 GRCh38 Chromosome 12, 56003896: 56003896
40 SUOX NM_000456.2(SUOX): c.507C> T (p.Thr169=) single nucleotide variant Uncertain significance rs765012855 GRCh37 Chromosome 12, 56397680: 56397680
41 SUOX NM_000456.2(SUOX): c.889C> T (p.Arg297Trp) single nucleotide variant Uncertain significance rs767916239 GRCh38 Chromosome 12, 56004278: 56004278
42 SUOX NM_000456.2(SUOX): c.889C> T (p.Arg297Trp) single nucleotide variant Uncertain significance rs767916239 GRCh37 Chromosome 12, 56398062: 56398062
43 SUOX NM_000456.2(SUOX): c.*155C> T single nucleotide variant Uncertain significance rs530553316 GRCh37 Chromosome 12, 56398966: 56398966
44 SUOX NM_000456.2(SUOX): c.*155C> T single nucleotide variant Uncertain significance rs530553316 GRCh38 Chromosome 12, 56005182: 56005182
45 SUOX NM_000456.2(SUOX): c.-184C> A single nucleotide variant Uncertain significance rs886049679 GRCh38 Chromosome 12, 55997676: 55997676
46 SUOX NM_000456.2(SUOX): c.-184C> A single nucleotide variant Uncertain significance rs886049679 GRCh37 Chromosome 12, 56391460: 56391460
47 SUOX NM_000456.2(SUOX): c.-136-6T> G single nucleotide variant Uncertain significance rs534066397 GRCh38 Chromosome 12, 55999327: 55999327
48 SUOX NM_000456.2(SUOX): c.-136-6T> G single nucleotide variant Uncertain significance rs534066397 GRCh37 Chromosome 12, 56393111: 56393111
49 SUOX NM_000456.2(SUOX): c.-74T> A single nucleotide variant Uncertain significance rs886049681 GRCh38 Chromosome 12, 55999395: 55999395
50 SUOX NM_000456.2(SUOX): c.-74T> A single nucleotide variant Uncertain significance rs886049681 GRCh37 Chromosome 12, 56393179: 56393179

Expression for Sulfite Oxidase Deficiency, Isolated

Search GEO for disease gene expression data for Sulfite Oxidase Deficiency, Isolated.

Pathways for Sulfite Oxidase Deficiency, Isolated

Pathways related to Sulfite Oxidase Deficiency, Isolated according to KEGG:

37
# Name Kegg Source Accession
1 Sulfur metabolism hsa00920

GO Terms for Sulfite Oxidase Deficiency, Isolated

Sources for Sulfite Oxidase Deficiency, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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40 LOVD
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45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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