MOCODA
MCID: MLY008
MIFTS: 47

Molybdenum Cofactor Deficiency, Complementation Group a (MOCODA)

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

Aliases & Classifications for Molybdenum Cofactor Deficiency, Complementation Group a

MalaCards integrated aliases for Molybdenum Cofactor Deficiency, Complementation Group a:

Name: Molybdenum Cofactor Deficiency, Complementation Group a 57 72 29 6 44 70
Molybdenum Cofactor Deficiency a 57 72 29
Mocoda 57 12 72
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type a 12 58
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 72 6
Molybdenum Cofactor Deficiency Type a 12 15
Mocod Type a 12 58
Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase, Combined Deficiency of 57
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type a 58
Deficiency, Molybdenum Cofactor, Complementation Group a 39
Molybdenum Cofactor Deficiency Complementation Group a 12
Molybdenum Cofactor Deficiency, Type a 13

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or in early infancy
most affected patients die in childhood


HPO:

31
molybdenum cofactor deficiency, complementation group a:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

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


Summaries for Molybdenum Cofactor Deficiency, Complementation Group a

OMIM® : 57 Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; 607633) and sulfite oxidase (SUOX; 606887), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). (252150) (Updated 05-Apr-2021)

MalaCards based summary : Molybdenum Cofactor Deficiency, Complementation Group a, also known as molybdenum cofactor deficiency a, is related to molybdenum cofactor deficiency, complementation group c and molybdenum cofactor deficiency, complementation group b, and has symptoms including opisthotonus An important gene associated with Molybdenum Cofactor Deficiency, Complementation Group a is MOCS1 (Molybdenum Cofactor Synthesis 1), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. Affiliated tissues include eye, and related phenotypes are macrocephaly and intellectual disability

Disease Ontology : 12 A molybdenum cofactor deficiency that has material basis in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.

UniProtKB/Swiss-Prot : 72 Molybdenum cofactor deficiency, complementation group A: An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.

Related Diseases for Molybdenum Cofactor Deficiency, Complementation Group a

Diseases related to Molybdenum Cofactor Deficiency, Complementation Group a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency, complementation group c 32.5 SUOX MOCS2 MOCS1 GPHN
2 molybdenum cofactor deficiency, complementation group b 31.6 MOCS2 MOCS1
3 encephalomalacia 30.0 SUOX MOCS2 MOCS1
4 sulfite oxidase deficiency, isolated 29.7 SUOX MOCS2 MOCS1 GPHN
5 molybdenum cofactor deficiency 29.0 SUOX PNP MOCS2 MOCS1 GPHN DAAM2
6 microcephaly 10.2
7 encephalopathy 10.2
8 xanthinuria, type i 10.1
9 abdominal obesity-metabolic syndrome 1 10.1
10 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.1
11 hypomagnesemia 1, intestinal 10.1 MOCS2 MOCS1
12 autosomal recessive disease 10.1
13 inherited metabolic disorder 10.1
14 spasticity 10.1
15 neurometabolic disease 10.1
16 hereditary xanthinuria 10.0 SUOX APRT
17 cerebral creatine deficiency syndrome 2 9.9 SUOX ADSL
18 glycine encephalopathy 9.9 SUOX GPHN
19 multiple carboxylase deficiency 9.9 MOCS1 ADSL
20 hyperekplexia 9.9 SUOX MOCS1 GPHN
21 metal metabolism disorder 9.9 SUOX MOCS2 MOCS1
22 hyperprolinemia, type i 9.9 SUOX ADSL
23 adenine phosphoribosyltransferase deficiency 9.9 APRT ADSL
24 dihydropyrimidine dehydrogenase deficiency 9.9 SUOX ADSL
25 xanthinuria 9.8 SUOX MOCS1 APRT
26 arts syndrome 9.8 APRT ADSL
27 alkaptonuria 9.8 MOCS2 MOCS1 ADSL
28 biotinidase deficiency 9.8 SUOX MOCS1 ADSL
29 adenosine deaminase deficiency 9.8 PNP ADSL
30 homocystinuria 9.7 SUOX ADSL
31 purine nucleoside phosphorylase deficiency 9.6 PNP APRT ADSL
32 lesch-nyhan syndrome 9.6 PNP APRT ADSL
33 gout 9.6 APRT ADSL
34 phosphoribosylpyrophosphate synthetase superactivity 9.5 NT5C2 APRT ADSL
35 purine-pyrimidine metabolic disorder 9.4 SUOX PNP APRT ADSL

Graphical network of the top 20 diseases related to Molybdenum Cofactor Deficiency, Complementation Group a:



Diseases related to Molybdenum Cofactor Deficiency, Complementation Group a

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency, Complementation Group a

Human phenotypes related to Molybdenum Cofactor Deficiency, Complementation Group a:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 frontal bossing 31 HP:0002007
4 nystagmus 31 HP:0000639
5 hypertelorism 31 HP:0000316
6 short nose 31 HP:0003196
7 thick vermilion border 31 HP:0012471
8 microcephaly 31 HP:0000252
9 feeding difficulties in infancy 31 HP:0008872
10 spastic tetraplegia 31 HP:0002510
11 full cheeks 31 HP:0000293
12 growth delay 31 HP:0001510
13 lens luxation 31 HP:0012019
14 long face 31 HP:0000276
15 long philtrum 31 HP:0000343
16 ventriculomegaly 31 HP:0002119
17 hypoplasia of the corpus callosum 31 HP:0002079
18 spastic tetraparesis 31 HP:0001285
19 cerebral atrophy 31 HP:0002059
20 increased urinary taurine 31 HP:0003166
21 myoclonic spasms 31 HP:0003739
22 opisthotonus 31 HP:0002179
23 gliosis 31 HP:0002171
24 peripheral demyelination 31 HP:0011096
25 axonal loss 31 HP:0003447
26 decreased urinary urate 31 HP:0011935
27 hypouricemia 31 HP:0003537
28 xanthine nephrolithiasis 31 HP:0000804
29 aldehyde oxidase deficiency 31 HP:0002932
30 sulfite oxidase deficiency 31 HP:0003643
31 xanthinuria 31 HP:0010934
32 increased urinary hypoxanthine 31 HP:0011814
33 seizure 31 HP:0001250
34 decreased urinary sulfate 31 HP:0003359
35 reduced xanthine dehydrogenase level 31 HP:0003534
36 molybdenum cofactor deficiency 31 HP:0003570
37 absent urinary urothione 31 HP:0003606
38 increased urinary sulfite 31 HP:0011942
39 increased urinary thiosulfate 31 HP:0011943

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
frontal bossing
microcephaly

Head And Neck Face:
long face
long philtrum
puffy cheeks

Laboratory Abnormalities:
increased urinary taurine
hypouricemia
increased urinary hypoxanthine
molybdenum cofactor deficiency
increased urinary xanthine
more
Head And Neck Nose:
small nose

Abdomen Gastrointestinal:
poor feeding

Skeletal Skull:
asymmetric skull

Head And Neck Eyes:
nystagmus
dislocated lenses
spherophakia
elongated palpebral fissures
widely spaced eyes

Neurologic Central Nervous System:
cerebral atrophy
gliosis
axonal loss
enlarged ventricles
hypertonicity
more
Muscle Soft Tissue:
myoclonic spasms

Head And Neck Mouth:
thick lips

Growth Other:
poor growth

Clinical features from OMIM®:

252150 (Updated 05-Apr-2021)

UMLS symptoms related to Molybdenum Cofactor Deficiency, Complementation Group a:


opisthotonus

Drugs & Therapeutics for Molybdenum Cofactor Deficiency, Complementation Group a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2/3, Multicenter, Multinational, Open Label Study to Evaluate the Efficacy and Safety of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A Recruiting NCT02629393 Phase 2, Phase 3 ORGN001 (formerly ALXN1101)
2 A Phase 2, Multicenter, Multinational, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of ORGN001 (Formerly ALXN1101) in Pediatric Patients With Molybdenum Cofactor Deficiency (MoCD) Type A Currently Treated With Recombinant Escherichia Coli-derived Cyclic Pyranopterin Monophosphate (rcPMP) Active, not recruiting NCT02047461 Phase 2 ORGN001 (formerly ALXN1101)
3 A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
4 A Phase 1, Randomized, Blinded, Placebo-Controlled, Single-Dose, Sequential-Cohort, Dose-Escalation Study to Evaluate the Safety, Tolerability and Pharmacokinetics of ALXN1101 in Healthy Adult Subjects Completed NCT01894165 Phase 1 ALXN1101;Placebo
5 A Retrospective, Observational, Noninterventional Data Collection Study for Patients With Molybdenum Cofactor Deficiency Who Have Been Previously Treated With Cyclic Pyranopterin Monophosphate (cPMP) Completed NCT01640717
6 A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies Completed NCT01735188

Search NIH Clinical Center for Molybdenum Cofactor Deficiency, Complementation Group a

Cochrane evidence based reviews: molybdenum cofactor deficiency, complementation group a

Genetic Tests for Molybdenum Cofactor Deficiency, Complementation Group a

Genetic tests related to Molybdenum Cofactor Deficiency, Complementation Group a:

# Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency, Complementation Group a 29 MOCS1
2 Molybdenum Cofactor Deficiency a 29

Anatomical Context for Molybdenum Cofactor Deficiency, Complementation Group a

MalaCards organs/tissues related to Molybdenum Cofactor Deficiency, Complementation Group a:

40
Eye

Publications for Molybdenum Cofactor Deficiency, Complementation Group a

Articles related to Molybdenum Cofactor Deficiency, Complementation Group a:

(show all 25)
# Title Authors PMID Year
1
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 6 57
12754701 2003
2
Molybdenum cofactor deficiency: first prenatal genetic analysis. 57 6
10327149 1999
3
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. 57 6
9921896 1998
4
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. 6 57
9731530 1998
5
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. 57 6
9634514 1998
6
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. 6 57
7660932 1994
7
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. 57
25764214 2015
8
A GPHN point mutation leading to molybdenum cofactor deficiency. 57
22040219 2011
9
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. 6
21031595 2011
10
Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency. 57
17236133 2007
11
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. 57
15115759 2004
12
Molybdenum cofactor-deficient mice resemble the phenotype of human patients. 57
12471057 2002
13
Genetics of molybdenum cofactor deficiency. 57
10746556 2000
14
Spherophakia associated with molybdenum cofactor deficiency. 57
9415683 1997
15
Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions. 57
8355818 1993
16
Antenatal diagnosis of molybdenum cofactor deficiency. 57
2220930 1990
17
Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. 57
2522104 1989
18
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. 57
3215199 1988
19
Molybdenum co-factor deficiency: an easily missed inborn error of metabolism. 57
3169394 1988
20
Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor. 57
3104671 1986
21
Structural and metabolic relationship between the molybdenum cofactor and urothione. 57
6960353 1982
22
Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. 57
6997882 1980
23
Combined deficiency of xanthine oxidase and sulfite oxidase; ophthalmological findings in a 3-week-old girl. 57
6969337 1980
24
Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? 57
117254 1978
25
Inborn errors of purine metabolism: clinical update and therapies. 61
24972650 2014

Variations for Molybdenum Cofactor Deficiency, Complementation Group a

ClinVar genetic disease variations for Molybdenum Cofactor Deficiency, Complementation Group a:

6 (show top 50) (show all 230)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MOCS1 NM_001358530.2(MOCS1):c.722del (p.Leu241fs) Deletion Pathogenic 6117 rs397518418 GRCh37: 6:39881096-39881096
GRCh38: 6:39913352-39913352
2 MOCS2 NM_004531.5(MOCS2):c.-633C>T SNV Pathogenic 6113 rs121908607 GRCh37: 5:52405544-52405544
GRCh38: 5:53109714-53109714
3 MOCS1 NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs) Duplication Pathogenic 838147 GRCh37: 6:39877680-39877681
GRCh38: 6:39909936-39909937
4 MOCS1 NM_001358530.2(MOCS1):c.418+1G>A SNV Pathogenic 6120 rs141982812 GRCh37: 6:39893421-39893421
GRCh38: 6:39925677-39925677
5 MOCS1 NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) SNV Pathogenic 6119 rs104893969 GRCh37: 6:39880033-39880033
GRCh38: 6:39912289-39912289
6 MOCS1 NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) Microsatellite Likely pathogenic 6118 rs397518419 GRCh37: 6:39874535-39874536
GRCh38: 6:39906759-39906760
7 MOCS1 NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) SNV Likely pathogenic 692063 rs372246702 GRCh37: 6:39893463-39893463
GRCh38: 6:39925719-39925719
8 MOCS1 NM_001358530.2(MOCS1):c.1150+20G>A SNV Likely pathogenic 692068 rs752653792 GRCh37: 6:39876811-39876811
GRCh38: 6:39909035-39909035
9 MOCS1 NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) SNV Likely pathogenic 590815 rs1562085332 GRCh37: 6:39876855-39876855
GRCh38: 6:39909079-39909079
10 MOCS1 NM_001358530.2(MOCS1):c.124-69G>A SNV Conflicting interpretations of pathogenicity 374706 rs45487695 GRCh37: 6:39895263-39895263
GRCh38: 6:39927524-39927524
11 MOCS1 NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) SNV Conflicting interpretations of pathogenicity 242558 rs140243105 GRCh37: 6:39880653-39880653
GRCh38: 6:39912909-39912909
12 MOCS1 NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) SNV Conflicting interpretations of pathogenicity 242559 rs148579886 GRCh37: 6:39877666-39877666
GRCh38: 6:39909922-39909922
13 MOCS1 NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) SNV Uncertain significance 976608 GRCh37: 6:39883964-39883964
GRCh38: 6:39916220-39916220
14 MOCS1 NM_001358530.2(MOCS1):c.518G>C (p.Ser173Thr) SNV Uncertain significance 998497 GRCh37: 6:39883877-39883877
GRCh38: 6:39916133-39916133
15 MOCS1 NM_001358530.2(MOCS1):c.829G>A (p.Glu277Lys) SNV Uncertain significance 998685 GRCh37: 6:39880677-39880677
GRCh38: 6:39912933-39912933
16 MOCS1 NM_001358530.2(MOCS1):c.485G>T (p.Arg162Leu) SNV Uncertain significance 1005675 GRCh37: 6:39883910-39883910
GRCh38: 6:39916166-39916166
17 MOCS1 NM_001358530.2(MOCS1):c.4G>A (p.Ala2Thr) SNV Uncertain significance 1007267 GRCh37: 6:39902153-39902153
GRCh38: 6:39934414-39934414
18 MOCS1 NM_001358530.2(MOCS1):c.614A>G (p.Lys205Arg) SNV Uncertain significance 1007917 GRCh37: 6:39881549-39881549
GRCh38: 6:39913805-39913805
19 MOCS1 NM_001358530.2(MOCS1):c.758-3C>T SNV Uncertain significance 1010245 GRCh37: 6:39880751-39880751
GRCh38: 6:39913007-39913007
20 MOCS1 NC_000006.11:g.(?_39881041)_(39902176_?)dup Duplication Uncertain significance 1010550 GRCh37: 6:39881041-39902176
GRCh38:
21 MOCS1 NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp) SNV Uncertain significance 1010994 GRCh37: 6:39893506-39893506
GRCh38: 6:39925762-39925762
22 MOCS1 NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) SNV Uncertain significance 534543 rs143912353 GRCh37: 6:39877617-39877617
GRCh38: 6:39909873-39909873
23 MOCS1 NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu) SNV Uncertain significance 838827 GRCh37: 6:39881099-39881099
GRCh38: 6:39913355-39913355
24 MOCS1 NM_001358530.2(MOCS1):c.77C>T (p.Pro26Leu) SNV Uncertain significance 969332 GRCh37: 6:39902080-39902080
GRCh38: 6:39934341-39934341
25 MOCS1 NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) SNV Uncertain significance 356663 rs143573353 GRCh37: 6:39883875-39883875
GRCh38: 6:39916131-39916131
26 MOCS1 NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) SNV Uncertain significance 905775 GRCh37: 6:39876849-39876849
GRCh38: 6:39909073-39909073
27 MOCS1 NM_001358530.2(MOCS1):c.5C>A (p.Ala2Glu) SNV Uncertain significance 1013655 GRCh37: 6:39902152-39902152
GRCh38: 6:39934413-39934413
28 MOCS1 NM_001358530.2(MOCS1):c.136C>T (p.Arg46Trp) SNV Uncertain significance 1014682 GRCh37: 6:39895182-39895182
GRCh38: 6:39927443-39927443
29 MOCS1 NM_001358530.2(MOCS1):c.379G>A (p.Gly127Arg) SNV Uncertain significance 1016096 GRCh37: 6:39893461-39893461
GRCh38: 6:39925717-39925717
30 MOCS1 NM_001358530.2(MOCS1):c.1080C>T (p.Gly360=) SNV Uncertain significance 1018914 GRCh37: 6:39877601-39877601
GRCh38: 6:39909857-39909857
31 MOCS1 NM_001358530.2(MOCS1):c.137G>A (p.Arg46Gln) SNV Uncertain significance 1020264 GRCh37: 6:39895181-39895181
GRCh38: 6:39927442-39927442
32 MOCS1 NM_001358530.2(MOCS1):c.358G>A (p.Asp120Asn) SNV Uncertain significance 1020291 GRCh37: 6:39893482-39893482
GRCh38: 6:39925738-39925738
33 MOCS1 NM_001358530.2(MOCS1):c.757+4A>C SNV Uncertain significance 1021447 GRCh37: 6:39881057-39881057
GRCh38: 6:39913313-39913313
34 MOCS1 NM_001358530.2(MOCS1):c.646G>A (p.Val216Met) SNV Uncertain significance 1023181 GRCh37: 6:39881172-39881172
GRCh38: 6:39913428-39913428
35 MOCS1 NM_001358530.2(MOCS1):c.631T>C (p.Tyr211His) SNV Uncertain significance 1024261 GRCh37: 6:39881532-39881532
GRCh38: 6:39913788-39913788
36 MOCS1 NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) SNV Uncertain significance 578688 rs766904353 GRCh37: 6:39895162-39895162
GRCh38: 6:39927423-39927423
37 MOCS1 NM_001358530.2(MOCS1):c.616G>A (p.Ala206Thr) SNV Uncertain significance 941492 GRCh37: 6:39881547-39881547
GRCh38: 6:39913803-39913803
38 MOCS1 NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu) SNV Uncertain significance 960442 GRCh37: 6:39893442-39893442
GRCh38: 6:39925698-39925698
39 MOCS1 NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly) SNV Uncertain significance 1022098 GRCh37: 6:39881561-39881561
GRCh38: 6:39913817-39913817
40 MOCS1 NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys) SNV Uncertain significance 855439 GRCh37: 6:39876875-39876875
GRCh38: 6:39909099-39909099
41 MOCS1 NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) SNV Uncertain significance 6121 rs104893970 GRCh37: 6:39895101-39895101
GRCh38: 6:39927362-39927362
42 MOCS2 NM_004531.5(MOCS2):c.99-8_99-5del Deletion Uncertain significance 353880 rs779872271 GRCh37: 5:52398059-52398062
GRCh38: 5:53102229-53102232
43 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*321A>G SNV Uncertain significance 353872 rs73756618 GRCh37: 5:52394111-52394111
GRCh38: 5:53098281-53098281
44 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*44A>C SNV Uncertain significance 353875 rs367775935 GRCh37: 5:52394388-52394388
GRCh38: 5:53098558-53098558
45 MOCS1 NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) SNV Uncertain significance 356669 rs144238782 GRCh37: 6:39893576-39893576
GRCh38: 6:39925832-39925832
46 MOCS1 NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) SNV Uncertain significance 356666 rs368942024 GRCh37: 6:39883974-39883974
GRCh38: 6:39916230-39916230
47 MOCS1 NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) SNV Uncertain significance 356670 rs770756364 GRCh37: 6:39895143-39895143
GRCh38: 6:39927404-39927404
48 MOCS1 NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) SNV Uncertain significance 809931 rs377167949 GRCh37: 6:39893446-39893446
GRCh38: 6:39925702-39925702
49 MOCS1 NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) SNV Uncertain significance 907292 GRCh37: 6:39881111-39881111
GRCh38: 6:39913367-39913367
50 MOCS1 NM_001358530.2(MOCS1):c.1085A>G (p.Lys362Arg) SNV Uncertain significance 1034229 GRCh37: 6:39877596-39877596
GRCh38: 6:39909852-39909852

UniProtKB/Swiss-Prot genetic disease variations for Molybdenum Cofactor Deficiency, Complementation Group a:

72
# Symbol AA change Variation ID SNP ID
1 MOCS1 p.Arg73Trp VAR_015658 rs104893970
2 MOCS1 p.Gly126Asp VAR_015659 rs372246702
3 MOCS1 p.Gly127Asp VAR_015660
4 MOCS1 p.Arg319Gln VAR_015661 rs104893969
5 MOCS1 p.Gly324Glu VAR_015662 rs118768503
6 MOCS1 p.Arg67Trp VAR_054823 rs754441164
7 MOCS1 p.Cys80Gly VAR_054824 rs151141411
8 MOCS1 p.Cys84Phe VAR_054825
9 MOCS1 p.Arg123Trp VAR_054826 rs779592342
10 MOCS1 p.Gly324Arg VAR_054827 rs762253951

Expression for Molybdenum Cofactor Deficiency, Complementation Group a

Search GEO for disease gene expression data for Molybdenum Cofactor Deficiency, Complementation Group a.

Pathways for Molybdenum Cofactor Deficiency, Complementation Group a

Pathways related to Molybdenum Cofactor Deficiency, Complementation Group a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 SUOX PNP NT5C2 MOCS2 MOCS1 GPHN
2
Show member pathways
12.3 PNP NT5C2 APRT ADSL
3
Show member pathways
12.15 MOCS2 MOCS1 GPHN
4
Show member pathways
11.68 MOCS2 MOCS1 GPHN ADSL
5 10.85 PNP NT5C2 APRT ADSL
6
Show member pathways
10.59 MOCS2 MOCS1 GPHN

GO Terms for Molybdenum Cofactor Deficiency, Complementation Group a

Cellular components related to Molybdenum Cofactor Deficiency, Complementation Group a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 PNP NT5C2 MOCS2 MOCS1 GPHN APRT
2 molybdopterin synthase complex GO:0019008 8.62 MOCS2 MOCS1

Biological processes related to Molybdenum Cofactor Deficiency, Complementation Group a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.32 PNP APRT
2 purine-containing compound salvage GO:0043101 9.26 PNP APRT
3 purine nucleotide catabolic process GO:0006195 9.16 PNP NT5C2
4 molybdopterin cofactor biosynthetic process GO:0032324 9.13 MOCS2 MOCS1 GPHN
5 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.8 MOCS2 MOCS1 GPHN

Molecular functions related to Molybdenum Cofactor Deficiency, Complementation Group a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.02 PNP NT5C2 MOCS1 GPHN ADSL
2 molybdopterin cofactor binding GO:0043546 8.96 SUOX GPHN

Sources for Molybdenum Cofactor Deficiency, Complementation Group a

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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