MOCODB
MCID: MLY009
MIFTS: 35

Molybdenum Cofactor Deficiency, Complementation Group B (MOCODB)

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

Aliases & Classifications for Molybdenum Cofactor Deficiency, Complementation Group B

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

Name: Molybdenum Cofactor Deficiency, Complementation Group B 58 76 30 6 45 74
Mocodb 58 12 76
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type B 12 60
Molybdenum Cofactor Deficiency Type B 12 15
Molybdenum Cofactor Deficiency B 58 76
Mocod Type B 12 60
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type B 60
Deficiency, Molybdenum Cofactor, Complementation Group B 41
Molybdenum Cofactor Deficiency Complementation Group B 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
molybdenum cofactor deficiency, complementation group b:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Molybdenum Cofactor Deficiency, Complementation Group B

OMIM : 58 Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (252150), which is clinically indistinguishable from MOCODB. (252160)

MalaCards based summary : Molybdenum Cofactor Deficiency, Complementation Group B, also known as mocodb, is related to molybdenum cofactor deficiency and seizure disorder, and has symptoms including opisthotonus An important gene associated with Molybdenum Cofactor Deficiency, Complementation Group B is MOCS2 (Molybdenum Cofactor Synthesis 2), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate biosynthesis. Affiliated tissues include eye, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 A molybdenum cofactor deficiency that has material basis in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.

UniProtKB/Swiss-Prot : 76 Molybdenum cofactor deficiency, complementation group B: An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood.

Related Diseases for Molybdenum Cofactor Deficiency, Complementation Group B

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

# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency 30.4 MOCS1 MOCS2
2 seizure disorder 10.2
3 encephalomalacia 9.7 MOCS1 MOCS2
4 molybdenum cofactor deficiency, complementation group a 9.6 MOCS1 MOCS2

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency, Complementation Group B

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

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 frontal bossing 33 HP:0002007
4 nystagmus 33 HP:0000639
5 seizures 33 HP:0001250
6 short nose 33 HP:0003196
7 thick vermilion border 33 HP:0012471
8 microcephaly 33 HP:0000252
9 spastic tetraplegia 33 HP:0002510
10 full cheeks 33 HP:0000293
11 long philtrum 33 HP:0000343
12 feeding difficulties 33 HP:0011968
13 growth delay 33 HP:0001510
14 ventriculomegaly 33 HP:0002119
15 ectopia lentis 33 HP:0001083
16 lens luxation 33 HP:0012019
17 long face 33 HP:0000276
18 myoclonic spasms 33 HP:0003739
19 hypoplasia of the corpus callosum 33 HP:0002079
20 peripheral demyelination 33 HP:0011096
21 cerebral atrophy 33 HP:0002059
22 gliosis 33 HP:0002171
23 opisthotonus 33 HP:0002179
24 axonal loss 33 HP:0003447
25 increased urinary taurine 33 HP:0003166
26 hypouricemia 33 HP:0003537
27 increased urinary hypoxanthine 33 HP:0011814
28 molybdenum cofactor deficiency 33 HP:0003570
29 xanthinuria 33 HP:0010934
30 xanthine nephrolithiasis 33 HP:0000804

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
frontal bossing
microcephaly

Head And Neck Face:
long philtrum
long face
puffy cheeks

Neurologic Central Nervous System:
cerebral atrophy
gliosis
axonal loss
enlarged ventricles
hypertonicity
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

Muscle Soft Tissue:
myoclonic spasms

Laboratory Abnormalities:
increased urinary taurine
hypouricemia
increased urinary xanthine
increased urinary hypoxanthine
increased urinary s-sulfocysteine
more
Head And Neck Mouth:
thick lips

Growth Other:
poor growth

Clinical features from OMIM:

252160

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


opisthotonus

Drugs & Therapeutics for Molybdenum Cofactor Deficiency, Complementation Group B

Search Clinical Trials , NIH Clinical Center for Molybdenum Cofactor Deficiency, Complementation Group B

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

Genetic Tests for Molybdenum Cofactor Deficiency, Complementation Group B

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

# Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency, Complementation Group B 30 MOCS2

Anatomical Context for Molybdenum Cofactor Deficiency, Complementation Group B

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

42
Eye

Publications for Molybdenum Cofactor Deficiency, Complementation Group B

Articles related to Molybdenum Cofactor Deficiency, Complementation Group B:

(show all 11)
# Title Authors Year
1
Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections. ( 30810871 )
2019
2
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. ( 30619713 )
2019
3
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. ( 27138983 )
2016
4
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. ( 16737835 )
2006
5
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. ( 16021469 )
2005
6
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. ( 12754701 )
2003
7
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. ( 12732628 )
2003
8
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. ( 11746050 )
2001
9
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. ( 10053004 )
1999
10
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. ( 10053003 )
1999
11
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. ( 1427786 )
1992

Variations for Molybdenum Cofactor Deficiency, Complementation Group B

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

76
# Symbol AA change Variation ID SNP ID
1 MOCS2 p.Glu168Lys VAR_012765 rs121908605
2 MOCS2 p.Val7Phe VAR_054854 rs121908608

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 MOCS2 NM_176806.3(MOCS2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs121908607 GRCh37 Chromosome 5, 52405544: 52405544
2 MOCS2 NM_176806.3(MOCS2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs121908607 GRCh38 Chromosome 5, 53109714: 53109714
3 MOCS2 NM_176806.3(MOCS2): c.19G> T (p.Val7Phe) single nucleotide variant Pathogenic rs121908608 GRCh37 Chromosome 5, 52404473: 52404473
4 MOCS2 NM_176806.3(MOCS2): c.19G> T (p.Val7Phe) single nucleotide variant Pathogenic rs121908608 GRCh38 Chromosome 5, 53108643: 53108643
5 MOCS2 NM_004531.4(MOCS2): c.567A> C (p.Ter189Tyr) single nucleotide variant Pathogenic rs121908609 GRCh37 Chromosome 5, 52394432: 52394432
6 MOCS2 NM_004531.4(MOCS2): c.567A> C (p.Ter189Tyr) single nucleotide variant Pathogenic rs121908609 GRCh38 Chromosome 5, 53098602: 53098602
7 MOCS2 NM_004531.4(MOCS2): c.-656_-634del23 deletion Pathogenic rs397518417 GRCh37 Chromosome 5, 52405545: 52405567
8 MOCS2 NM_004531.4(MOCS2): c.-656_-634del23 deletion Pathogenic rs397518417 GRCh38 Chromosome 5, 53109715: 53109737
9 MOCS2 NM_004531.4(MOCS2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121908606 GRCh38 Chromosome 5, 53107172: 53107172
10 MOCS2 NM_004531.4(MOCS2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121908606 GRCh37 Chromosome 5, 52403002: 52403002
11 MOCS2 NM_176806.3(MOCS2): c.252dupC (p.Ile85Hisfs) duplication Pathogenic rs398122799 GRCh38 Chromosome 5, 53107110: 53107110
12 MOCS2 NM_176806.3(MOCS2): c.252dupC (p.Ile85Hisfs) duplication Pathogenic rs398122799 GRCh37 Chromosome 5, 52402940: 52402940
13 MOCS2 NM_176806.3(MOCS2): c.*266_*269delGTCA deletion Uncertain significance rs398122798 GRCh38 Chromosome 5, 53101387: 53101390
14 MOCS2 NM_176806.3(MOCS2): c.*266_*269delGTCA deletion Uncertain significance rs398122798 GRCh37 Chromosome 5, 52397217: 52397220
15 MOCS2 NM_004531.4(MOCS2): c.502G> A (p.Glu168Lys) single nucleotide variant Pathogenic rs121908605 GRCh38 Chromosome 5, 53098667: 53098667
16 MOCS2 NM_004531.4(MOCS2): c.502G> A (p.Glu168Lys) single nucleotide variant Pathogenic rs121908605 GRCh37 Chromosome 5, 52394497: 52394497
17 MOCS2 NM_004531.4(MOCS2): c.539_540delAA (p.Lys180Argfs) deletion Likely pathogenic rs398122797 GRCh38 Chromosome 5, 53098629: 53098630
18 MOCS2 NM_004531.4(MOCS2): c.539_540delAA (p.Lys180Argfs) deletion Likely pathogenic rs398122797 GRCh37 Chromosome 5, 52394459: 52394460
19 MOCS2 NM_176806.3(MOCS2): c.134A> C (p.His45Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 52404358: 52404358
20 MOCS2 NM_176806.3(MOCS2): c.134A> C (p.His45Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 53108528: 53108528
21 MOCS2 NM_176806.3(MOCS2): c.189T> G (p.Tyr63Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 52403003: 52403003
22 MOCS2 NM_176806.3(MOCS2): c.189T> G (p.Tyr63Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 53107173: 53107173
23 MOCS2 NM_004531.4(MOCS2): c.108G> A (p.Met36Ile) single nucleotide variant Uncertain significance rs140563222 GRCh38 Chromosome 5, 53102215: 53102215
24 MOCS2 NM_004531.4(MOCS2): c.108G> A (p.Met36Ile) single nucleotide variant Uncertain significance rs140563222 GRCh37 Chromosome 5, 52398045: 52398045

Expression for Molybdenum Cofactor Deficiency, Complementation Group B

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

Pathways for Molybdenum Cofactor Deficiency, Complementation Group B

GO Terms for Molybdenum Cofactor Deficiency, Complementation Group B

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

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

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

# Name GO ID Score Top Affiliating Genes
1 molybdopterin cofactor biosynthetic process GO:0032324 8.96 MOCS1 MOCS2
2 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.62 MOCS1 MOCS2

Sources for Molybdenum Cofactor Deficiency, Complementation Group B

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75 UMLS via Orphanet
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