MOCODB
MCID: MLY009
MIFTS: 36

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 57 74 29 6 44 72
Molybdenum Cofactor Deficiency B 57 74 29
Mocodb 57 12 74
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type B 12 59
Molybdenum Cofactor Deficiency Type B 12 15
Mocod Type B 12 59
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type B 59
Deficiency, Molybdenum Cofactor, Complementation Group B 40
Molybdenum Cofactor Deficiency Complementation Group B 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
molybdenum cofactor deficiency, complementation group b:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111163
ICD10 via Orphanet 34 E72.1
UMLS via Orphanet 73 C1854989
Orphanet 59 ORPHA308393
MedGen 42 C1854989
UMLS 72 C1854989

Summaries for Molybdenum Cofactor Deficiency, Complementation Group B

OMIM : 57 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 molybdenum cofactor deficiency b, is related to molybdenum cofactor deficiency and encephalomalacia, 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 : 74 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 30.2 MOCS2 MOCS1
2 encephalomalacia 29.6 MOCS2 MOCS1
3 inherited metabolic disorder 10.3
4 sulfite oxidase deficiency, isolated 10.2
5 autosomal recessive disease 10.2
6 visual epilepsy 10.2
7 seizure disorder 10.2
8 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.2
9 molybdenum cofactor deficiency, complementation group a 9.4 MOCS2 MOCS1

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



Diseases related to Molybdenum Cofactor Deficiency, Complementation Group B

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency, Complementation Group B

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

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 frontal bossing 32 HP:0002007
4 nystagmus 32 HP:0000639
5 seizures 32 HP:0001250
6 short nose 32 HP:0003196
7 thick vermilion border 32 HP:0012471
8 microcephaly 32 HP:0000252
9 spastic tetraplegia 32 HP:0002510
10 full cheeks 32 HP:0000293
11 long philtrum 32 HP:0000343
12 feeding difficulties 32 HP:0011968
13 growth delay 32 HP:0001510
14 ventriculomegaly 32 HP:0002119
15 ectopia lentis 32 HP:0001083
16 lens luxation 32 HP:0012019
17 long face 32 HP:0000276
18 myoclonic spasms 32 HP:0003739
19 hypoplasia of the corpus callosum 32 HP:0002079
20 peripheral demyelination 32 HP:0011096
21 cerebral atrophy 32 HP:0002059
22 gliosis 32 HP:0002171
23 opisthotonus 32 HP:0002179
24 axonal loss 32 HP:0003447
25 increased urinary taurine 32 HP:0003166
26 hypouricemia 32 HP:0003537
27 xanthine nephrolithiasis 32 HP:0000804
28 molybdenum cofactor deficiency 32 HP:0003570
29 xanthinuria 32 HP:0010934
30 increased urinary hypoxanthine 32 HP:0011814

Symptoms via clinical synopsis from OMIM:

57
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
molybdenum cofactor deficiency
increased urinary hypoxanthine
increased urinary xanthine
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 29 MOCS2
2 Molybdenum Cofactor Deficiency B 29

Anatomical Context for Molybdenum Cofactor Deficiency, Complementation Group B

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

41
Eye

Publications for Molybdenum Cofactor Deficiency, Complementation Group B

Articles related to Molybdenum Cofactor Deficiency, Complementation Group B:

(show all 14)
# Title Authors PMID Year
1
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 38 8 71
10053004 1999
2
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 8 71
16737835 2006
3
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. 8 71
16021469 2005
4
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 8 71
12754701 2003
5
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 8 71
11746050 2001
6
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. 71
12732628 2003
7
Genetics of molybdenum cofactor deficiency. 8
10746556 2000
8
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. 71
10053003 1999
9
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. 71
1427786 1992
10
Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. 8
2522104 1989
11
Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections. 38
30810871 2019
12
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. 38
30619713 2019
13
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. 38
27138983 2016
14
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. 38
22759696 2012

Variations for Molybdenum Cofactor Deficiency, Complementation Group B

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

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MOCS2 NM_004531.5(MOCS2): c.65dup (p.Leu23fs) duplication Pathogenic rs398122799 5:52402940-52402940 5:53107110-53107110
2 MOCS2 NM_004531.5(MOCS2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121908606 5:52403002-52403002 5:53107172-53107172
3 MOCS2 NM_176806.4(MOCS2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs121908607 5:52405544-52405544 5:53109714-53109714
4 MOCS2 NM_176806.4(MOCS2): c.19G> T (p.Val7Phe) single nucleotide variant Pathogenic rs121908608 5:52404473-52404473 5:53108643-53108643
5 MOCS2 NM_004531.5(MOCS2): c.567A> C (p.Ter189Tyr) single nucleotide variant Pathogenic rs121908609 5:52394432-52394432 5:53098602-53098602
6 MOCS2 NM_176806.4(MOCS2): c.-8_15del (p.Met1fs) deletion Pathogenic rs397518417 5:52405545-52405567 5:53109715-53109737
7 MOCS2 NM_004531.5(MOCS2): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic 5:52403003-52403003 5:53107173-53107173
8 MOCS2 NM_004531.5(MOCS2): c.502G> A (p.Glu168Lys) single nucleotide variant Pathogenic rs121908605 5:52394497-52394497 5:53098667-53098667
9 MOCS2 NM_004531.5(MOCS2): c.539_540del (p.Lys180fs) deletion Likely pathogenic rs398122797 5:52394459-52394460 5:53098629-53098630
10 MOCS2 NM_004531.5(MOCS2): c.108G> A (p.Met36Ile) single nucleotide variant Uncertain significance rs140563222 5:52398045-52398045 5:53102215-53102215
11 MOCS2 NM_004531.5(MOCS2): c.346_349del (p.Val116fs) deletion Uncertain significance rs398122798 5:52397217-52397220 5:53101387-53101390
12 MOCS2 NM_176806.4(MOCS2): c.134A> C (p.His45Pro) single nucleotide variant Uncertain significance 5:52404358-52404358 5:53108528-53108528

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

74
# Symbol AA change Variation ID SNP ID
1 MOCS2 p.Glu168Lys VAR_012765 rs121908605
2 MOCS2 p.Val7Phe VAR_054854 rs121908608

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 MOCS2 MOCS1

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 MOCS2 MOCS1
2 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.62 MOCS2 MOCS1

Sources for Molybdenum Cofactor Deficiency, Complementation Group B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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