MOCODB
MCID: MLY009
MIFTS: 38

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 56 73 29 6 43 71
Molybdenum Cofactor Deficiency B 56 73 29
Mocodb 56 12 73
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type B 12 58
Molybdenum Cofactor Deficiency Type B 12 15
Mocod Type B 12 58
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type B 58
Deficiency, Molybdenum Cofactor, Complementation Group B 39
Molybdenum Cofactor Deficiency Complementation Group B 12

Characteristics:

OMIM:

56
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 b:
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 B

OMIM : 56 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 sulfite oxidase deficiency, isolated and molybdenum cofactor deficiency, 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 hypertelorism and macrocephaly

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 : 73 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 sulfite oxidase deficiency, isolated 29.6 MOCS2 MOCS1
2 molybdenum cofactor deficiency 29.3 MOCS2 MOCS1 ITGA2
3 inherited metabolic disorder 10.3
4 autosomal recessive disease 10.2
5 visual epilepsy 10.2
6 encephalomalacia 10.2
7 seizure disorder 10.2
8 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.2
9 molybdenum cofactor deficiency, complementation group c 9.6 MOCS2 MOCS1
10 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:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 macrocephaly 31 HP:0000256
3 short nose 31 HP:0003196
4 thick vermilion border 31 HP:0012471
5 microcephaly 31 HP:0000252
6 spastic tetraplegia 31 HP:0002510
7 full cheeks 31 HP:0000293
8 feeding difficulties 31 HP:0011968
9 nystagmus 31 HP:0000639
10 frontal bossing 31 HP:0002007
11 growth delay 31 HP:0001510
12 ectopia lentis 31 HP:0001083
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 cerebral atrophy 31 HP:0002059
19 increased urinary taurine 31 HP:0003166
20 myoclonic spasms 31 HP:0003739
21 opisthotonus 31 HP:0002179
22 gliosis 31 HP:0002171
23 peripheral demyelination 31 HP:0011096
24 axonal loss 31 HP:0003447
25 hypouricemia 31 HP:0003537
26 seizure 31 HP:0001250
27 xanthine nephrolithiasis 31 HP:0000804
28 molybdenum cofactor deficiency 31 HP:0003570
29 xanthinuria 31 HP:0010934
30 increased urinary hypoxanthine 31 HP:0011814

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
microcephaly
frontal bossing

Head And Neck Face:
long face
long philtrum
puffy cheeks

Laboratory Abnormalities:
increased urinary taurine
hypouricemia
molybdenum cofactor deficiency
increased urinary hypoxanthine
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:

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:

40
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. 6 56 61
10053004 1999
2
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 6 56
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. 56 6
16021469 2005
4
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 56 6
12754701 2003
5
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 56 6
11746050 2001
6
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. 6
12732628 2003
7
Genetics of molybdenum cofactor deficiency. 56
10746556 2000
8
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. 6
10053003 1999
9
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. 6
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. 56
2522104 1989
11
Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections. 61
30810871 2019
12
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. 61
30619713 2019
13
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. 61
27138983 2016
14
Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis. 61
22759696 2012

Variations for Molybdenum Cofactor Deficiency, Complementation Group B

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

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MOCS2 NM_004531.5(MOCS2):c.2T>G (p.Met1Arg)SNV Pathogenic 587508 rs772575104 5:52403003-52403003 5:53107173-53107173
2 MOCS2 NM_004531.5(MOCS2):c.65dup (p.Leu23fs)duplication Pathogenic 6111 rs398122799 5:52402939-52402940 5:53107109-53107110
3 MOCS2 NM_004531.5(MOCS2):c.3G>A (p.Met1Ile)SNV Pathogenic 6112 rs121908606 5:52403002-52403002 5:53107172-53107172
4 MOCS2 NM_004531.5(MOCS2):c.-633C>TSNV Pathogenic 6113 rs121908607 5:52405544-52405544 5:53109714-53109714
5 MOCS2 NM_004531.5(MOCS2):c.-169G>TSNV Pathogenic 6114 rs121908608 5:52404473-52404473 5:53108643-53108643
6 MOCS2 NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)SNV Pathogenic 6115 rs121908609 5:52394432-52394432 5:53098602-53098602
7 MOCS2 NM_004531.5(MOCS2):c.-656_-634deldeletion Pathogenic 6116 rs397518417 5:52405545-52405567 5:53109715-53109737
8 MOCS2 NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys)SNV Pathogenic 6109 rs121908605 5:52394497-52394497 5:53098667-53098667
9 MOCS2 NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)deletion Likely pathogenic 6108 rs398122797 5:52394459-52394460 5:53098629-53098630
10 MOCS2 NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)SNV Conflicting interpretations of pathogenicity 218640 rs2233218 5:52397199-52397199 5:53101369-53101369
11 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*321A>GSNV Conflicting interpretations of pathogenicity 353872 rs73756618 5:52394111-52394111 5:53098281-53098281
12 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*171G>CSNV Conflicting interpretations of pathogenicity 353873 rs191465075 5:52394261-52394261 5:53098431-53098431
13 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*44A>CSNV Conflicting interpretations of pathogenicity 353875 rs367775935 5:52394388-52394388 5:53098558-53098558
14 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*2045G>ASNV Conflicting interpretations of pathogenicity 903790 5:52392387-52392387 5:53096557-53096557
15 MOCS2 NM_004531.5(MOCS2):c.*1658G>ASNV Uncertain significance 906213 5:52392774-52392774 5:53096944-53096944
16 MOCS2 NM_004531.5(MOCS2):c.*1545G>ASNV Uncertain significance 906214 5:52392887-52392887 5:53097057-53097057
17 MOCS2 NM_004531.5(MOCS2):c.*1483C>TSNV Uncertain significance 906216 5:52392949-52392949 5:53097119-53097119
18 MOCS2 NM_004531.5(MOCS2):c.*1424G>ASNV Uncertain significance 907205 5:52393008-52393008 5:53097178-53097178
19 MOCS2 NM_004531.5(MOCS2):c.*1284C>GSNV Uncertain significance 907206 5:52393148-52393148 5:53097318-53097318
20 MOCS2 NM_004531.5(MOCS2):c.*1167G>ASNV Uncertain significance 907207 5:52393265-52393265 5:53097435-53097435
21 MOCS2 NM_004531.5(MOCS2):c.*722T>CSNV Uncertain significance 903860 5:52393710-52393710 5:53097880-53097880
22 MOCS2 NM_004531.5(MOCS2):c.*673A>TSNV Uncertain significance 903861 5:52393759-52393759 5:53097929-53097929
23 MOCS2 NM_004531.5(MOCS2):c.*651G>ASNV Uncertain significance 903862 5:52393781-52393781 5:53097951-53097951
24 MOCS2 NM_004531.5(MOCS2):c.*518C>TSNV Uncertain significance 903864 5:52393914-52393914 5:53098084-53098084
25 MOCS2 NM_004531.5(MOCS2):c.*344C>TSNV Uncertain significance 905757 5:52394088-52394088 5:53098258-53098258
26 MOCS2 NM_004531.5(MOCS2):c.*122G>ASNV Uncertain significance 905758 5:52394310-52394310 5:53098480-53098480
27 MOCS2 NM_004531.5(MOCS2):c.*32C>GSNV Uncertain significance 905759 5:52394400-52394400 5:53098570-53098570
28 MOCS2 NM_004531.5(MOCS2):c.-54A>CSNV Uncertain significance 587578 rs1561177917 5:52404358-52404358 5:53108528-53108528
29 MOCS2 NM_004531.5(MOCS2):c.415G>A (p.Val139Met)SNV Uncertain significance 809757 5:52396327-52396327 5:53100497-53100497
30 MOCS2 NM_004531.5(MOCS2):c.-646G>ASNV Uncertain significance 813890 5:52405557-52405557 5:53109727-53109727
31 MOCS2 NM_004531.5(MOCS2):c.-630G>TSNV Uncertain significance 870563 5:52405541-52405541 5:53109711-53109711
32 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3813G>ASNV Uncertain significance 905632 5:52390242-52390242 5:53094412-53094412
33 MOCS2 NM_004531.5(MOCS2):c.*2877G>TSNV Uncertain significance 907141 5:52391555-52391555 5:53095725-53095725
34 MOCS2 NM_004531.5(MOCS2):c.*2675A>CSNV Uncertain significance 907142 5:52391757-52391757 5:53095927-53095927
35 MOCS2 NM_004531.5(MOCS2):c.*2672G>CSNV Uncertain significance 907143 5:52391760-52391760 5:53095930-53095930
36 MOCS2 NM_004531.5(MOCS2):c.*2609G>CSNV Uncertain significance 907145 5:52391823-52391823 5:53095993-53095993
37 MOCS2 NM_004531.5(MOCS2):c.*1918A>GSNV Uncertain significance 905688 5:52392514-52392514 5:53096684-53096684
38 MOCS2 NM_004531.5(MOCS2):c.296C>T (p.Ala99Val)SNV Uncertain significance 353876 rs2233217 5:52397270-52397270 5:53101440-53101440
39 MOCS2 NM_004531.5(MOCS2):c.-622G>ASNV Uncertain significance 353883 rs373522800 5:52405533-52405533 5:53109703-53109703
40 MOCS2 NM_004531.5(MOCS2):c.-664C>ASNV Uncertain significance 353886 rs764809636 5:52405575-52405575 5:53109745-53109745
41 MOCS2 NM_004531.5(MOCS2):c.*143G>ASNV Uncertain significance 353874 rs2233223 5:52394289-52394289 5:53098459-53098459
42 MOCS2 NM_176806.3(MOCS2):c.-37T>CSNV Uncertain significance 353887 rs757181179 5:52405596-52405596 5:53109766-53109766
43 MOCS2 NM_004531.5(MOCS2):c.261C>T (p.Val87=)SNV Uncertain significance 353877 rs777565219 5:52397305-52397305 5:53101475-53101475
44 MOCS2 NM_004531.5(MOCS2):c.-642C>TSNV Uncertain significance 353885 rs886060696 5:52405553-52405553 5:53109723-53109723
45 MOCS2 NM_004531.5(MOCS2):c.*372G>ASNV Uncertain significance 353871 rs753919594 5:52394060-52394060 5:53098230-53098230
46 MOCS2 NM_004531.5(MOCS2):c.-10C>TSNV Uncertain significance 353881 rs146074751 5:52403014-52403014 5:53107184-53107184
47 MOCS2 NM_004531.5(MOCS2):c.-71G>ASNV Uncertain significance 353882 rs773035025 5:52404375-52404375 5:53108545-53108545
48 MOCS2 NM_004531.5(MOCS2):c.-635G>ASNV Uncertain significance 353884 rs572637154 5:52405546-52405546 5:53109716-53109716
49 MOCS2 NM_004531.5(MOCS2):c.*532G>ASNV Uncertain significance 353869 rs886060695 5:52393900-52393900 5:53098070-53098070
50 MOCS2 NM_004531.5(MOCS2):c.346_349del (p.Val116fs)deletion Uncertain significance 6110 rs398122798 5:52397217-52397220 5:53101387-53101390

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

73
# 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 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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