ISOD
MCID: SLF014
MIFTS: 49

Sulfite Oxidase Deficiency, Isolated (ISOD)

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

Aliases & Classifications for Sulfite Oxidase Deficiency, Isolated

MalaCards integrated aliases for Sulfite Oxidase Deficiency, Isolated:

Name: Sulfite Oxidase Deficiency, Isolated 56 73 6
Sulfite Oxidase Deficiency 56 74 52 36 29 13 54 6 43 39 71
Sulfocysteinuria 56 12 24 52 25 58 73 71
Isolated Sulfite Oxidase Deficiency 12 24 25 58 15
Isod 56 25 58 73
Encephalopathy Due to Sulfite Oxidase Deficiency 25 58

Characteristics:

Orphanet epidemiological data:

58
encephalopathy due to sulfite oxidase deficiency
Inheritance: Autosomal recessive; Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

31
sulfite oxidase deficiency, isolated:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

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


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. Classic ISOD appears within the first few days after birth with signs and symptoms of brain dysfunction (encephalopathy) that quickly get worse. Babies with classic ISOD have seizures that are difficult to treat and feeding difficulties. They have muscle stiffness that results in paralysis of the arms and legs (spastic quadriplegia) and episodes of muscle spasms that cause backward arching of the spine (opisthotonus). Because development of the brain is impaired, the head does not grow at the same rate as the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Abnormalities in facial features also become increasingly pronounced with lack of normal head growth. These facial differences include a relatively long and narrow face; deep-set, widely-spaced eyes; elongated openings of the eyes (palpebral fissures); puffy cheeks; a small nose; a large space between the nose and upper lip (a long philtrum); and thick lips. Babies with classic ISOD do not respond to their environment except to startle easily in response to noises, and they do not develop any motor skills such as turning over or sitting up. They usually do not live for more than a few months. Affected individuals who survive past infancy usually develop displacement of the lenses of the eyes (ectopia lentis). Because these individuals do not react to visual stimuli (are behaviorally blind) due to the brain damage associated with classic ISOD, the ectopia lentis has no further impact on their vision. Late-onset ISOD usually begins between the ages of 6 and 18 months, often after an illness involving fever. Individuals with this form of the disorder may not have the seizures and ectopia lentis that usually occur in the classic form. They have developmental delay and may lose skills that they had already developed (developmental regression). Movement problems occur in this form of the disorder, including muscle tensing (dystonia), uncontrolled movements of the limbs (choreoathetosis), and difficulty with coordination (ataxia). The signs and symptoms of late-onset ISOD can gradually get worse (progress), or they can be episodic, which means that they come and go. Some individuals with this form of ISOD survive into childhood or adolescence; because of the rarity of this disorder, their life expectancy is unknown.

MalaCards based summary : Sulfite Oxidase Deficiency, Isolated, also known as sulfite oxidase deficiency, is related to molybdenum cofactor deficiency, complementation group b and molybdenum cofactor deficiency, complementation group a, and has symptoms including seizures and ataxia. An important gene associated with Sulfite Oxidase Deficiency, Isolated is SUOX (Sulfite Oxidase), and among its related pathways/superpathways are Sulfur metabolism and Metabolism. Affiliated tissues include eye, brain and testes, and related phenotypes are short nose and thick vermilion border

Disease Ontology : 12 An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has material basis in homozygous or compound heterozygous mutation in SUOX on 12q13.2.

KEGG : 36 Sulfite oxidase deficiency is a rare inherited disease with severe neurological symptoms such as intractable neonatal or infantile seizures, hypotonia or hypertonia, feeding difficulties, profound developmental delay, and dislocated lens. Isolated sulfite oxidase deficiency results from defects in the enzyme sulfite oxidase, which is responsible for the oxidation of sulfite to sulfate. Several mutations have been identified from patients suffering from isolated sulfite oxidase deficiency. The more common molybdenum cofactor deficiency [DS:H00192] leads to combined defects in xanthine dehydrogenase and sulfite oxidase, as sulfite oxidase is 1 of 3 enzymes in humans that requires molybdenum as a cofactor, the other 2 being xanthine oxidase and aldehyde oxidase. The seizures in isolated sulfite oxidase deficiency may even begin prenatally, and are much more severe compared with those in molybdenum cofactor deficiency.

UniProtKB/Swiss-Prot : 73 Sulfite oxidase deficiency, isolated: A life-threatening, autosomal recessive neurometabolic disorder characterized by severe neurological impairment. Classic ISOD manifests in the first few hours to days of life and is characterized by intractable seizures, feeding difficulties, rapidly progressive encephalopathy, microcephaly, and profound intellectual disability. Children usually die during the first few months of life. Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic stroke.

Wikipedia : 74 Sulfite oxidase (EC 1.8.3.1) is an enzyme in the mitochondria of all eukaryotes.[citation needed] It... more...

More information 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:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency, complementation group b 32.5 MOCS2 MOCS1
2 molybdenum cofactor deficiency, complementation group a 31.9 SUOX MOCS2 MOCS1 GPHN
3 molybdenum cofactor deficiency, complementation group c 31.1 SUOX MOCS3 MOCS2 MOCS1 GPHN AOX1
4 encephalomalacia 30.7 SUOX MOCS1
5 hereditary xanthinuria 30.7 SUOX AOX1
6 xanthinuria 30.7 SUOX AOX1
7 isolated ectopia lentis 30.1 SUOX ADAMTSL4 ADAMTS10
8 hyperekplexia 30.0 SUOX MOCS1 GPHN
9 lens subluxation 29.7 SUOX ADAMTSL4 ADAMTS10
10 molybdenum cofactor deficiency 29.0 SUOX MOCS3 MOCS2 MOCS1 GPHN AOX1
11 sulfite oxidase deficiency due to molybdenum cofactor deficiency 12.5
12 autosomal recessive disease 10.5
13 microcephaly 10.4
14 encephalopathy 10.4
15 neurometabolic disease 10.4
16 movement disease 10.3
17 prader-willi syndrome 10.3
18 hypotonia 10.3
19 ataxia and polyneuropathy, adult-onset 10.2
20 alacrima, achalasia, and mental retardation syndrome 10.2
21 hemiplegia 10.2
22 spastic quadriplegia 10.2
23 visual epilepsy 10.2
24 quadriplegia 10.2
25 dystonia 10.2
26 hypertonia 10.2
27 seizure disorder 10.2
28 spasticity 10.2
29 xanthinuria, type i 10.2 SUOX AOX1
30 purine-pyrimidine metabolic disorder 10.2 SUOX AOX1
31 cerebral atrophy 10.1
32 biotinidase deficiency 10.1 SUOX MOCS1
33 gastroesophageal reflux 10.1
34 hydrocephalus, congenital, 1 10.1
35 leigh syndrome 10.1
36 yemenite deaf-blind hypopigmentation syndrome 10.1
37 west syndrome 10.1
38 aspiration pneumonia 10.1
39 cerebellar hypoplasia 10.1
40 respiratory failure 10.1
41 status epilepticus 10.1
42 inherited metabolic disorder 10.1
43 homocystinuria 10.1
44 paternal uniparental disomy 10.1
45 multiple carboxylase deficiency 10.0 SUOX MOCS1
46 encephalopathy, ethylmalonic 10.0 SUOX ETHE1
47 tracheal stenosis 9.7 ADAMTSL4 ADAMTS10
48 acromicric dysplasia 9.7 ADAMTSL4 ADAMTS10
49 stiff skin syndrome 9.6 ADAMTSL4 ADAMTS10
50 ectopia lentis 1, isolated, autosomal dominant 9.6 SUOX ADAMTSL4 ADAMTS10

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

Human phenotypes related to Sulfite Oxidase Deficiency, Isolated:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
2 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
5 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
6 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
7 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
8 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
9 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
10 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
11 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
12 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
13 abnormal pattern of respiration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002793
14 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
15 ectopia lentis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001083
16 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
17 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
18 spastic tetraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001285
19 seizure 31 hallmark (90%) HP:0001250
20 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
21 global developmental delay 31 HP:0001263
22 seizures 58 Very frequent (99-80%)
23 hypertonia 31 HP:0001276
24 spasticity 58 Very frequent (99-80%)
25 delayed eruption of teeth 31 HP:0000684
26 fine hair 31 HP:0002213
27 eczema 31 HP:0000964
28 generalized dystonia 31 HP:0007325
29 choreoathetosis 31 HP:0001266
30 generalized hypotonia 31 HP:0001290
31 hemiplegia 31 HP:0002301
32 infantile muscular hypotonia 31 HP:0008947
33 agitation 31 HP:0000713
34 decreased urinary sulfate 31 HP:0003359
35 sulfite oxidase deficiency 31 HP:0003643
36 increased urinary sulfite 31 HP:0011942

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hypertonia
ataxia
generalized dystonia
choreoathetosis
more
Skin Nails Hair Hair:
fine hair

Head And Neck Teeth:
delayed teething

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

Head And Neck Eyes:
ectopia lentis

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

Skin Nails Hair Skin:
mild eczema

Clinical features from OMIM:

272300

UMLS symptoms related to Sulfite Oxidase Deficiency, Isolated:


seizures, ataxia

GenomeRNAi Phenotypes related to Sulfite Oxidase Deficiency, Isolated according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.75 SUOX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 AOX1 SUOX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.75 MOCS3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.75 SUOX
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.75 SUOX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.75 SUOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.75 SUOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.75 SUOX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.75 SUOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.75 AOX1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.75 SUOX
12 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.75 SUOX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.75 SUOX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.75 SUOX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.75 SUOX
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 AOX1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.75 AOX1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.75 MOCS3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.75 MOCS3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 MOCS3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.75 AOX1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.75 MOCS3 SUOX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.75 MOCS3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 AOX1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.75 MOCS3

Drugs & Therapeutics for Sulfite Oxidase Deficiency, Isolated

Search Clinical Trials , NIH Clinical Center for Sulfite Oxidase Deficiency, Isolated

Cochrane evidence based reviews: sulfite oxidase deficiency

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

Anatomical Context for Sulfite Oxidase Deficiency, Isolated

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

40
Eye, Brain, Testes, Lung

Publications for Sulfite Oxidase Deficiency, Isolated

Articles related to Sulfite Oxidase Deficiency, Isolated:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. 61 56 24 54 6
15952210 2005
2
Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. 6 56 54 61
9600976 1998
3
Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. 6 56 61
9428520 1997
4
Isolated Sulfite Oxidase Deficiency 61 6
28933809 2017
5
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. 24 61 54
17940249 2007
6
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. 24 61 54
17607604 2007
7
Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. 54 24 61
16970890 2006
8
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. 61 54 24
16234925 2005
9
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. 54 24 61
16140720 2005
10
Isolated sulfite oxidase deficiency: review of two cases in one family. 24 61 54
10519592 1999
11
Isolated sulfite oxidase deficiency. 61 54 24
9050047 1996
12
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. 24 61 54
8531042 1995
13
A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method. 61 56
509724 1979
14
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. 56 61
302914 1977
15
Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system. 61 56
956384 1976
16
Sulfite oxidase deficiency in man: demonstration of the enzymatic defect. 61 56
6025118 1967
17
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. 61 24
27289259 2016
18
Isolated sulfite oxidase deficiency. 61 24
25758000 2015
19
Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion. 61 24
24938149 2014
20
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. 61 24
24756183 2014
21
Sulfite oxidase deficiency--an unusual late and mild presentation. 61 24
23452914 2014
22
Neurologic injury in isolated sulfite oxidase deficiency. 24 61
24384336 2014
23
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. 61 24
23994568 2013
24
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. 61 24
23414711 2013
25
Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency. 24 61
23250141 2013
26
⁹⁹mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency. 61 24
22704016 2012
27
A GPHN point mutation leading to molybdenum cofactor deficiency. 6
22040219 2011
28
Clinical and imaging observations in isolated sulfite oxidase deficiency. 61 24
21572056 2011
29
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. 61 24
19793632 2010
30
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 6
16737835 2006
31
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. 6
16021469 2005
32
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. 6
12732628 2003
33
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 6
12754701 2003
34
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 6
11746050 2001
35
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. 6
11095995 2001
36
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. 56
10682307 2000
37
Molybdenum cofactor deficiency: first prenatal genetic analysis. 6
10327149 1999
38
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 6
10053004 1999
39
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. 6
10053003 1999
40
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. 6
9921896 1998
41
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. 6
9731530 1998
42
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. 6
9634514 1998
43
A mild form of infantile isolated sulphite oxidase deficiency. 56
8719749 1995
44
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. 6
7660932 1994
45
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. 6
1427786 1992
46
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion. 56
2044591 1991
47
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome. 56
3149702 1988
48
A sulphite oxidase-deficient rat model: reproductive toxicology of sulphite in the female. 56
6540737 1984
49
The nature of the ocular zonule. 56
6763807 1982
50
A collagen defect in homocystinuria. 56
4729050 1973

Variations for Sulfite Oxidase Deficiency, Isolated

ClinVar genetic disease variations for Sulfite Oxidase Deficiency, Isolated:

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SUOX NM_001032386.2(SUOX):c.520del (p.Asp174fs)deletion Pathogenic 619592 rs1565798380 12:56397693-56397693 12:56003909-56003909
2 SUOX NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter)SNV Pathogenic 619593 rs747461754 12:56398373-56398373 12:56004589-56004589
3 SUOX NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr)indel Pathogenic 623470 rs1565799723 12:56398453-56398454 12:56004669-56004670
4 SUOX NM_001032386.2(SUOX):c.363dup (p.Pro122fs)duplication Pathogenic 529473 rs1555198521 12:56397530-56397531 12:56003746-56003747
5 SUOX NM_001032386.2(SUOX):c.98del (p.Asn33fs)deletion Pathogenic 529474 rs773937413 12:56396372-56396372 12:56002588-56002588
6 SUOX SUOX, 1-BP DEL, 1244Gdeletion Pathogenic 3824
7 SUOX NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp)SNV Pathogenic 3821 rs121908008 12:56397967-56397967 12:56004183-56004183
8 SUOX SUOX, SER370TYRSNV Pathogenic 3822
9 SUOX NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp)SNV Pathogenic 3823 rs121908009 12:56398762-56398762 12:56004978-56004978
10 SUOX NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe)SNV Pathogenic/Likely pathogenic 623385 rs1565799921 12:56398561-56398561 12:56004777-56004777
11 SUOX NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln)SNV Likely pathogenic 638376 12:56398549-56398549 12:56004765-56004765
12 SUOX NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)SNV Likely pathogenic 802863 12:56397969-56397969 12:56004185-56004185
13 SUOX NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys)SNV Likely pathogenic 802864 12:56398299-56398299 12:56004515-56004515
14 SUOX NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)SNV Likely pathogenic 802865 12:56398707-56398707 12:56004923-56004923
15 SUOX NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)SNV Likely pathogenic 3820 rs121908007 12:56397823-56397823 12:56004039-56004039
16 SUOX NM_001032386.2(SUOX):c.332T>A (p.Val111Asp)SNV Likely pathogenic 202185 rs794729211 12:56397505-56397505 12:56003721-56003721
17 SUOX NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp)SNV Conflicting interpretations of pathogenicity 212329 rs76537761 12:56398531-56398531 12:56004747-56004747
18 SUOX NM_001032386.2(SUOX):c.50+9G>ASNV Conflicting interpretations of pathogenicity 309831 rs368327991 12:56396064-56396064 12:56002280-56002280
19 SUOX NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)SNV Conflicting interpretations of pathogenicity 309833 rs202085145 12:56396504-56396504 12:56002720-56002720
20 SUOX NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp)SNV Conflicting interpretations of pathogenicity 737018 12:56397747-56397747 12:56003963-56003963
21 SUOX NM_001032386.2(SUOX):c.119G>A (p.Arg40His)SNV Conflicting interpretations of pathogenicity 645240 12:56396395-56396395 12:56002611-56002611
22 SUOX NM_001032386.2(SUOX):c.1333A>G (p.Ile445Val)SNV Uncertain significance 651218 12:56398506-56398506 12:56004722-56004722
23 SUOX NM_001032386.2(SUOX):c.1388_1389CT[1] (p.Leu464fs)short repeat Uncertain significance 650585 12:56398560-56398561 12:56004776-56004777
24 SUOX NM_001032386.2(SUOX):c.199G>C (p.Val67Leu)SNV Uncertain significance 836283 12:56396475-56396475 12:56002691-56002691
25 SUOX NM_001032386.2(SUOX):c.890G>A (p.Arg297Gln)SNV Uncertain significance 862847 12:56398063-56398063 12:56004279-56004279
26 SUOX NM_001032386.2(SUOX):c.1527G>A (p.Lys509=)SNV Uncertain significance 859657 12:56398700-56398700 12:56004916-56004916
27 SUOX NM_001032386.2(SUOX):c.228+1G>ASNV Uncertain significance 856291 12:56396505-56396505 12:56002721-56002721
28 SUOX NM_001032386.2(SUOX):c.-129A>GSNV Uncertain significance 883740 12:56391114-56391114 12:55997330-55997330
29 SUOX NM_001032386.2(SUOX):c.186A>T (p.Leu62Phe)SNV Uncertain significance 568542 rs1347179760 12:56396462-56396462 12:56002678-56002678
30 SUOX NM_001032386.2(SUOX):c.931G>A (p.Glu311Lys)SNV Uncertain significance 576378 rs778950352 12:56398104-56398104 12:56004320-56004320
31 SUOX NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu)SNV Uncertain significance 596740 rs143457531 12:56398141-56398141 12:56004357-56004357
32 SUOX NM_001032386.2(SUOX):c.89G>C (p.Cys30Ser)SNV Uncertain significance 881843 12:56396365-56396365 12:56002581-56002581
33 SUOX NM_001032386.2(SUOX):c.621C>T (p.Tyr207=)SNV Uncertain significance 883003 12:56397794-56397794 12:56004010-56004010
34 SUOX NM_001032386.2(SUOX):c.713C>T (p.Pro238Leu)SNV Uncertain significance 883004 12:56397886-56397886 12:56004102-56004102
35 SUOX NM_001032386.2(SUOX):c.1137A>G (p.Lys379=)SNV Uncertain significance 883794 12:56398310-56398310 12:56004526-56004526
36 SUOX NM_001032386.2(SUOX):c.1612C>T (p.Arg538Cys)SNV Uncertain significance 881461 12:56398785-56398785 12:56005001-56005001
37 SUOX NM_001032386.2(SUOX):c.*47A>CSNV Uncertain significance 881462 12:56398858-56398858 12:56005074-56005074
38 SUOX NM_001032386.2(SUOX):c.*311A>GSNV Uncertain significance 881463 12:56399122-56399122 12:56005338-56005338
39 SUOX NM_001032386.2(SUOX):c.*369G>ASNV Uncertain significance 881901 12:56399180-56399180 12:56005396-56005396
40 SUOX NM_001032386.2(SUOX):c.*479T>CSNV Uncertain significance 881902 12:56399290-56399290 12:56005506-56005506
41 SUOX NM_001032386.2(SUOX):c.51-14G>ASNV Uncertain significance 881842 12:56396313-56396313 12:56002529-56002529
42 SUOX NC_000012.12:g.56005531G>CSNV Uncertain significance 881903 12:56399315-56399315 12:56005531-56005531
43 SUOX NM_001032386.2(SUOX):c.279C>T (p.His93=)SNV Uncertain significance 309834 rs763253683 12:56397452-56397452 12:56003668-56003668
44 SUOX NM_001032386.2(SUOX):c.507C>T (p.Thr169=)SNV Uncertain significance 309836 rs765012855 12:56397680-56397680 12:56003896-56003896
45 SUOX NM_001032386.2(SUOX):c.889C>T (p.Arg297Trp)SNV Uncertain significance 309838 rs767916239 12:56398062-56398062 12:56004278-56004278
46 SUOX NM_001032386.2(SUOX):c.*155C>TSNV Uncertain significance 309846 rs530553316 12:56398966-56398966 12:56005182-56005182
47 SUOX NM_001032386.2(SUOX):c.-58C>ASNV Uncertain significance 309823 rs886049679 12:56391460-56391460 12:55997676-55997676
48 SUOX NM_001032386.2(SUOX):c.-11+1672T>ASNV Uncertain significance 309828 rs886049681 12:56393179-56393179 12:55999395-55999395
49 SUOX NM_001032386.2(SUOX):c.-11+1723G>ASNV Uncertain significance 309829 rs373341778 12:56393230-56393230 12:55999446-55999446
50 SUOX NM_001032386.2(SUOX):c.192C>T (p.Leu64=)SNV Uncertain significance 309832 rs577360771 12:56396468-56396468 12:56002684-56002684

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

73 (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 rs104168166
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

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:

36
# Name Kegg Source Accession
1 Sulfur metabolism hsa00920

GO Terms for Sulfite Oxidase Deficiency, Isolated

Cellular components related to Sulfite Oxidase Deficiency, Isolated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molybdopterin synthase complex GO:0019008 8.62 MOCS2 MOCS1

Biological processes related to Sulfite Oxidase Deficiency, Isolated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 SUOX GPHN ETHE1 AOX1
2 molybdopterin cofactor biosynthetic process GO:0032324 9.26 MOCS3 MOCS2 MOCS1 GPHN
3 sulfide oxidation, using sulfide:quinone oxidoreductase GO:0070221 9.16 SUOX ETHE1
4 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.92 MOCS3 MOCS2 MOCS1 GPHN

Molecular functions related to Sulfite Oxidase Deficiency, Isolated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.56 SUOX MOCS3 MOCS1 IKZF4 GPHN ETHE1
2 iron-sulfur cluster binding GO:0051536 9.16 MOCS1 AOX1
3 molybdopterin cofactor binding GO:0043546 8.8 SUOX GPHN AOX1

Sources for Sulfite Oxidase Deficiency, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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