ISOD
MCID: SLF014
MIFTS: 53

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 57 73
Sulfite Oxidase Deficiency 57 74 20 36 13 54 44 39 71
Sulfocysteinuria 57 12 25 20 43 58 73 71
Isolated Sulfite Oxidase Deficiency 12 25 43 58 29 6 15
Isod 57 43 58 73
Encephalopathy Due to Sulfite Oxidase Deficiency 43 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®:

57 (Updated 05-Mar-2021)
Miscellaneous:
death in infancy

Inheritance:
autosomal recessive


HPO:

31
sulfite oxidase deficiency, isolated:
Onset and clinical course 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

MedlinePlus Genetics : 43 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. The drug Molybdenum has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and lung, and related phenotypes are nausea and vomiting and ataxia

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, with exception of the... 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 55)
# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency, complementation group b 32.3 MOCS2 MOCS1
2 molybdenum cofactor deficiency, complementation group a 32.1 SUOX MOCS2 MOCS1 GPHN
3 molybdenum cofactor deficiency, complementation group c 31.7 SUOX MOCS3 MOCS2 MOCS1 GPHN AOX1
4 isolated ectopia lentis 31.0 SUOX ADAMTSL4 ADAMTS10
5 encephalomalacia 30.9 SUOX MOCS2 MOCS1
6 hereditary xanthinuria 30.7 SUOX AOX1
7 xanthinuria 30.7 SUOX AOX1
8 lens subluxation 30.5 SUOX ADAMTSL4 ADAMTS10
9 hyperekplexia 30.3 SUOX MOCS1 GPHN
10 molybdenum cofactor deficiency 29.9 SUOX PNPO MOCS3 MOCS2 MOCS1 GPHN
11 sulfite oxidase deficiency due to molybdenum cofactor deficiency 11.3
12 autosomal recessive disease 10.5
13 microcephaly 10.4
14 encephalopathy 10.4
15 neurometabolic disease 10.3
16 xanthinuria, type i 10.3 SUOX AOX1
17 movement disease 10.3
18 hypotonia 10.3
19 hyperlysinemia, type i 10.3 SUOX ADAMTSL4
20 hypomagnesemia 1, intestinal 10.2 MOCS2 MOCS1
21 metal metabolism disorder 10.2 SUOX MOCS2 MOCS1
22 ataxia and polyneuropathy, adult-onset 10.2
23 alacrima, achalasia, and mental retardation syndrome 10.2
24 hemiplegia 10.2
25 spastic quadriplegia 10.2
26 quadriplegia 10.2
27 dystonia 10.2
28 cerebral atrophy 10.2
29 hypertonia 10.2
30 spasticity 10.2
31 purine-pyrimidine metabolic disorder 10.2 SUOX AOX1
32 tracheal stenosis 10.2 ADAMTSL4 ADAMTS10
33 encephalopathy, ethylmalonic 10.2 SUOX SQOR ETHE1
34 tracheal disease 10.1 ADAMTSL4 ADAMTS10
35 ectopia lentis 1, isolated, autosomal dominant 10.1 SUOX ADAMTSL4 ADAMTS10
36 ectopia lentis 2, isolated, autosomal recessive 10.1 SUOX ADAMTSL4 ADAMTS10
37 gastroesophageal reflux 10.0
38 leigh syndrome 10.0
39 yemenite deaf-blind hypopigmentation syndrome 10.0
40 west syndrome 10.0
41 aspiration pneumonia 10.0
42 cerebellar hypoplasia 10.0
43 status epilepticus 10.0
44 inherited metabolic disorder 10.0
45 homocystinuria 10.0
46 seizure disorder 10.0
47 paternal uniparental disomy 10.0
48 hyperprolinemia, type ii 10.0 PNPO MOCS2
49 stiff skin syndrome 10.0 ADAMTSL4 ADAMTS10
50 cerebral creatine deficiency syndrome 2 10.0 SUOX PNPO

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 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
6 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
7 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
8 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
9 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
10 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
11 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
12 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
13 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
14 ectopia lentis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001083
15 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
16 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
17 spastic tetraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001285
18 abnormal pattern of respiration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002793
19 seizure 31 hallmark (90%) HP:0001250
20 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
21 seizures 58 Very frequent (99-80%)
22 spasticity 58 Very frequent (99-80%)
23 global developmental delay 31 HP:0001263
24 hypertonia 31 HP:0001276
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 sulfite oxidase deficiency 31 HP:0003643
35 decreased urinary sulfate 31 HP:0003359
36 increased urinary sulfite 31 HP:0011942

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
ataxia
hypertonia
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 (Updated 05-Mar-2021)

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 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-101 9.88 SQOR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.88 CTU1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.88 NDOR1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.88 ADAMTSL4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.88 NDOR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.88 SQOR
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.88 NDOR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.88 NDOR1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.88 CTU1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.88 ADAMTSL4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.88 CTU1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-162 9.88 CTU1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.88 AOX1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.88 CTU1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.88 ADAMTSL4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.88 SUOX
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.88 AOX1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.88 SUOX
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.88 SQOR
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.88 SUOX
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.88 RAB5B
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.88 NDOR1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.88 RAB5B
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-51 9.88 NDOR1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.88 ADAMTSL4
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.88 SQOR
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.88 AOX1 SUOX
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.88 SUOX
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.88 SUOX
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.88 ADAMTSL4

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

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

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 Isolated Sulfite Oxidase Deficiency 29 SUOX

Anatomical Context for Sulfite Oxidase Deficiency, Isolated

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

40
Brain, Eye, Lung

Publications for Sulfite Oxidase Deficiency, Isolated

Articles related to Sulfite Oxidase Deficiency, Isolated:

(show top 50) (show all 125)
# Title Authors PMID Year
1
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. 6 25 54 61 57
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. 57 54 61 6
9600976 1998
3
Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency. 57 6 61
31127934 2019
4
Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. 61 57 6
9428520 1997
5
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. 61 25 54
17940249 2007
6
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. 25 54 61
17607604 2007
7
Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. 61 54 25
16970890 2006
8
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. 61 54 25
16234925 2005
9
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. 61 25 54
16140720 2005
10
Isolated sulfite oxidase deficiency: review of two cases in one family. 25 61 54
10519592 1999
11
Isolated sulfite oxidase deficiency. 25 54 61
9050047 1996
12
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. 25 54 61
8531042 1995
13
A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method. 61 57
509724 1979
14
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. 57 61
302914 1977
15
Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system. 61 57
956384 1976
16
Sulfite oxidase deficiency in man: demonstration of the enzymatic defect. 57 61
6025118 1967
17
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. 6
29590070 2018
18
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. 25 61
27289259 2016
19
Isolated sulfite oxidase deficiency. 61 25
25758000 2015
20
Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion. 25 61
24938149 2014
21
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. 25 61
24756183 2014
22
Sulfite oxidase deficiency--an unusual late and mild presentation. 61 25
23452914 2014
23
Neurologic injury in isolated sulfite oxidase deficiency. 25 61
24384336 2014
24
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. 25 61
23994568 2013
25
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. 61 25
23414711 2013
26
Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency. 25 61
23250141 2013
27
⁹⁹mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency. 25 61
22704016 2012
28
A GPHN point mutation leading to molybdenum cofactor deficiency. 6
22040219 2011
29
Clinical and imaging observations in isolated sulfite oxidase deficiency. 61 25
21572056 2011
30
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. 61 25
19793632 2010
31
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 6
19339519 2009
32
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 6
16737835 2006
33
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
34
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. 6
12732628 2003
35
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 6
12754701 2003
36
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 6
11746050 2001
37
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. 57
10682307 2000
38
Molybdenum cofactor deficiency: first prenatal genetic analysis. 6
10327149 1999
39
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 6
10053004 1999
40
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. 6
10053003 1999
41
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. 6
9921896 1998
42
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. 6
9731530 1998
43
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. 6
9634514 1998
44
A mild form of infantile isolated sulphite oxidase deficiency. 57
8719749 1995
45
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. 6
7660932 1994
46
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. 6
1427786 1992
47
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion. 57
2044591 1991
48
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome. 57
3149702 1988
49
A sulphite oxidase-deficient rat model: reproductive toxicology of sulphite in the female. 57
6540737 1984
50
The nature of the ocular zonule. 57
6763807 1982

Variations for Sulfite Oxidase Deficiency, Isolated

ClinVar genetic disease variations for Sulfite Oxidase Deficiency, Isolated:

6 (show top 50) (show all 443)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MOCS1 NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) SNV Pathogenic 6121 rs104893970 6:39895101-39895101 6:39927362-39927362
2 GPHN NM_020806.4(GPHN):c.1838A>C (p.Asp613Ala) SNV Pathogenic 88674 rs397518420 14:67626133-67626133 14:67159416-67159416
3 GPHN NC_000014.9:g.(?_66776444)_(66776541_?)del Deletion Pathogenic 831947 14:67243162-67243259
4 GPHN NC_000014.9:g.(?_66508508)_(66508611_?)del Deletion Pathogenic 831995 14:66975226-66975329
5 GPHN NC_000014.9:g.(?_67122236)_(67122397_?)del Deletion Pathogenic 833419 14:67588953-67589114
6 GPHN NC_000014.9:g.(?_66508508)_(66681205_?)del Deletion Pathogenic 833426 14:66975226-67147923
7 MOCS1 NM_001358530.2(MOCS1):c.722del (p.Leu241fs) Deletion Pathogenic 6117 rs397518418 6:39881096-39881096 6:39913352-39913352
8 MOCS1 NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) SNV Pathogenic 6119 rs104893969 6:39880033-39880033 6:39912289-39912289
9 GPHN NM_020806.4(GPHN):c.1666C>T (p.Arg556Ter) SNV Pathogenic 653059 rs1595241291 14:67589012-67589012 14:67122295-67122295
10 GPHN NC_000014.8:g.(?_67243162)_(67391029_?)del Deletion Pathogenic 534558 14:67243162-67391029
11 MOCS2 NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) SNV Pathogenic 6109 rs121908605 5:52394497-52394497 5:53098667-53098667
12 MOCS2 NM_004531.5(MOCS2):c.346_349del (p.Val116fs) Deletion Pathogenic 6110 rs398122798 5:52397217-52397220 5:53101387-53101390
13 MOCS2 NM_004531.5(MOCS2):c.65dup (p.Leu23fs) Duplication Pathogenic 6111 rs398122799 5:52402939-52402940 5:53107109-53107110
14 MOCS2 NM_004531.5(MOCS2):c.3G>A (p.Met1Ile) SNV Pathogenic 6112 rs121908606 5:52403002-52403002 5:53107172-53107172
15 MOCS2 NM_004531.5(MOCS2):c.-633C>T SNV Pathogenic 6113 rs121908607 5:52405544-52405544 5:53109714-53109714
16 MOCS2 NM_004531.5(MOCS2):c.-169G>T SNV Pathogenic 6114 rs121908608 5:52404473-52404473 5:53108643-53108643
17 MOCS2 NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) SNV Pathogenic 6115 rs121908609 5:52394432-52394432 5:53098602-53098602
18 GPHN NC_000014.8:g.(?_67243182)_(67432042_?)del Deletion Pathogenic 584128 14:67243182-67432042
19 MOCS2 NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) SNV Pathogenic 587508 rs772575104 5:52403003-52403003 5:53107173-53107173
20 MOCS1 NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs) Duplication Pathogenic 838147 6:39877680-39877681 6:39909936-39909937
21 MOCS2 NM_004531.5(MOCS2):c.-633C>T SNV Pathogenic 6113 rs121908607 5:52405544-52405544 5:53109714-53109714
22 MOCS2 NM_004531.5(MOCS2):c.-656_-634del Deletion Pathogenic 6116 rs397518417 5:52405545-52405567 5:53109715-53109737
23 MOCS1 NM_001358530.2(MOCS1):c.418+1G>A SNV Pathogenic 6120 rs141982812 6:39893421-39893421 6:39925677-39925677
24 GPHN NM_020806.4(GPHN):c.65-?_201+?del Deletion Pathogenic 5972 14:66975310-67291191 14:66508592-66824473
25 GPHN NC_000014.9:g.(?_66879919)_(66880053_?)del Deletion Pathogenic 655222 14:67346637-67346771 14:66879919-66880053
26 SUOX S370Y SNV Pathogenic 3822
27 SUOX SUOX, 1-BP DEL, 1244G Deletion Pathogenic 3824
28 SUOX NM_001032386.2(SUOX):c.363dup (p.Pro122fs) Duplication Pathogenic 529473 rs1555198521 12:56397530-56397531 12:56003746-56003747
29 SUOX NM_001032386.2(SUOX):c.98del (p.Asn33fs) Deletion Pathogenic 529474 rs773937413 12:56396372-56396372 12:56002588-56002588
30 SUOX NM_001032386.2(SUOX):c.1521_1524del (p.Cys508fs) Microsatellite Pathogenic 988664 12:56398690-56398693 12:56004906-56004909
31 SUOX NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser) SNV Pathogenic 992188 12:56398257-56398257 12:56004473-56004473
32 SUOX NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp) SNV Pathogenic 3821 rs121908008 12:56397967-56397967 12:56004183-56004183
33 SUOX NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) SNV Pathogenic 619593 rs747461754 12:56398373-56398373 12:56004589-56004589
34 SUOX NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp) SNV Pathogenic 3823 rs121908009 12:56398762-56398762 12:56004978-56004978
35 SUOX NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) Indel Pathogenic 623470 rs1565799723 12:56398453-56398454 12:56004669-56004670
36 SUOX NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) SNV Pathogenic/Likely pathogenic 623385 rs1565799921 12:56398561-56398561 12:56004777-56004777
37 SUOX NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) SNV Likely pathogenic 638376 rs776356158 12:56398549-56398549 12:56004765-56004765
38 SUOX NM_001032386.2(SUOX):c.520del (p.Asp174fs) Deletion Likely pathogenic 619592 rs1565798380 12:56397693-56397693 12:56003909-56003909
39 MOCS1 NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) Microsatellite Likely pathogenic 6118 rs397518419 6:39874535-39874536 6:39906759-39906760
40 SUOX NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) SNV Likely pathogenic 3820 rs121908007 12:56397823-56397823 12:56004039-56004039
41 SUOX NM_001032386.2(SUOX):c.810dup (p.Glu271Ter) Duplication Likely pathogenic 978451 12:56397982-56397983 12:56004198-56004199
42 SUOX NM_001032386.2(SUOX):c.599C>T (p.Pro200Leu) SNV Likely pathogenic 930742 12:56397772-56397772 12:56003988-56003988
43 SUOX NM_001032386.2(SUOX):c.1313_1316del (p.Val438fs) Deletion Likely pathogenic 938805 12:56398486-56398489 12:56004702-56004705
44 SUOX NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) SNV Likely pathogenic 802863 rs144064367 12:56397969-56397969 12:56004185-56004185
45 SUOX NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys) SNV Likely pathogenic 802864 rs781081194 12:56398299-56398299 12:56004515-56004515
46 SUOX NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) SNV Likely pathogenic 802865 rs770792767 12:56398707-56398707 12:56004923-56004923
47 SUOX NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) SNV Likely pathogenic 202185 rs794729211 12:56397505-56397505 12:56003721-56003721
48 GPHN NC_000014.9:g.(?_66824474)_(66824566_?)del Deletion Likely pathogenic 495286 14:67291192-67291284 14:66824474-66824566
49 GPHN NC_000014.9:g.(?_66776464)_(66776521_?)del Deletion Likely pathogenic 495287 14:67243182-67243239 14:66776464-66776521
50 MOCS2 NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) Deletion Likely pathogenic 6108 rs398122797 5:52394459-52394460 5:53098629-53098630

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 TRMT112 SUOX SQOR PNPO NDOR1 MOCS3
2
Show member pathways
11.88 PNPO MOCS2 MOCS1 GPHN COQ5
3
Show member pathways
11.77 PNPO MOCS3 MOCS2 MOCS1 MMADHC GPHN
4
Show member pathways
11.71 SUOX SQOR ETHE1
5
Show member pathways
11.01 MOCS2 MOCS1 GPHN
6
Show member pathways
10.45 PNPO AOX1
7 10.33 SUOX SQOR ETHE1
8 10.03 MOCS3 MOCS2 CTU1

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 9.8 SUOX SQOR PNPO NDOR1 GPHN ETHE1
2 tRNA wobble uridine modification GO:0002098 9.48 MOCS3 CTU1
3 tRNA thio-modification GO:0034227 9.46 MOCS3 CTU1
4 protein urmylation GO:0032447 9.43 MOCS3 CTU1
5 tRNA wobble position uridine thiolation GO:0002143 9.4 MOCS3 CTU1
6 vitamin B6 metabolic process GO:0042816 9.37 PNPO AOX1
7 sulfide oxidation, using sulfide:quinone oxidoreductase GO:0070221 9.33 SUOX SQOR ETHE1
8 hydrogen sulfide metabolic process GO:0070813 9.32 SQOR ETHE1
9 molybdopterin cofactor biosynthetic process GO:0032324 9.26 MOCS3 MOCS2 MOCS1 GPHN
10 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 oxidoreductase activity GO:0016491 9.43 SUOX SQOR PNPO NDOR1 ETHE1 AOX1
2 FMN binding GO:0010181 9.16 PNPO NDOR1
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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