MOCODB
MCID: MLY009
MIFTS: 39

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 72 29 6 44 70
Molybdenum Cofactor Deficiency B 57 72 29
Mocodb 57 12 72
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®:

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 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® : 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) (Updated 05-Apr-2021)

MalaCards based summary : Molybdenum Cofactor Deficiency, Complementation Group B, also known as molybdenum cofactor deficiency b, is related to encephalomalacia and xanthinuria, 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 Biosynthesis of cofactors and Folate biosynthesis. Affiliated tissues include eye, and related phenotypes are macrocephaly and frontal bossing

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 : 72 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

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 macrocephaly 31 HP:0000256
2 frontal bossing 31 HP:0002007
3 nystagmus 31 HP:0000639
4 hypertelorism 31 HP:0000316
5 short nose 31 HP:0003196
6 thick vermilion border 31 HP:0012471
7 microcephaly 31 HP:0000252
8 spastic tetraplegia 31 HP:0002510
9 full cheeks 31 HP:0000293
10 growth delay 31 HP:0001510
11 ectopia lentis 31 HP:0001083
12 lens luxation 31 HP:0012019
13 long face 31 HP:0000276
14 long philtrum 31 HP:0000343
15 ventriculomegaly 31 HP:0002119
16 hypoplasia of the corpus callosum 31 HP:0002079
17 feeding difficulties 31 HP:0011968
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 xanthine nephrolithiasis 31 HP:0000804
27 xanthinuria 31 HP:0010934
28 increased urinary hypoxanthine 31 HP:0011814
29 seizure 31 HP:0001250
30 molybdenum cofactor deficiency 31 HP:0003570

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®:

252160 (Updated 05-Apr-2021)

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 11)
# Title Authors PMID Year
1
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 57 6
16737835 2006
2
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 57
16021469 2005
3
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 6 57
12754701 2003
4
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 57 6
11746050 2001
5
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 6 57
10053004 1999
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. 57
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. 57
2522104 1989
11
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene. 61
33066491 2020

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 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MOCS2 NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) SNV Pathogenic 6109 rs121908605 GRCh37: 5:52394497-52394497
GRCh38: 5:53098667-53098667
2 MOCS2 NM_004531.5(MOCS2):c.346_349del (p.Val116fs) Deletion Pathogenic 6110 rs398122798 GRCh37: 5:52397217-52397220
GRCh38: 5:53101387-53101390
3 MOCS2 NM_004531.5(MOCS2):c.65dup (p.Leu23fs) Duplication Pathogenic 6111 rs398122799 GRCh37: 5:52402939-52402940
GRCh38: 5:53107109-53107110
4 MOCS2 NM_004531.5(MOCS2):c.3G>A (p.Met1Ile) SNV Pathogenic 6112 rs121908606 GRCh37: 5:52403002-52403002
GRCh38: 5:53107172-53107172
5 MOCS2 NM_004531.5(MOCS2):c.-633C>T SNV Pathogenic 6113 rs121908607 GRCh37: 5:52405544-52405544
GRCh38: 5:53109714-53109714
6 MOCS2 NM_004531.5(MOCS2):c.-169G>T SNV Pathogenic 6114 rs121908608 GRCh37: 5:52404473-52404473
GRCh38: 5:53108643-53108643
7 MOCS2 NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) SNV Pathogenic 587508 rs772575104 GRCh37: 5:52403003-52403003
GRCh38: 5:53107173-53107173
8 MOCS2 NM_004531.5(MOCS2):c.-656_-634del Deletion Pathogenic 6116 rs397518417 GRCh37: 5:52405545-52405567
GRCh38: 5:53109715-53109737
9 MOCS2 NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) SNV Pathogenic 6115 rs121908609 GRCh37: 5:52394432-52394432
GRCh38: 5:53098602-53098602
10 MOCS2 NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) Deletion Likely pathogenic 6108 rs398122797 GRCh37: 5:52394459-52394460
GRCh38: 5:53098629-53098630
11 MOCS2 NM_004531.5(MOCS2):c.-163GTATT[1] Microsatellite Likely pathogenic 930940 GRCh37: 5:52404458-52404462
GRCh38: 5:53108628-53108632
12 MOCS2 NM_004531.5(MOCS2):c.*876T>C SNV Uncertain significance 907209 GRCh37: 5:52393556-52393556
GRCh38: 5:53097726-53097726
13 MOCS2 NM_004531.5(MOCS2):c.*837T>C SNV Uncertain significance 907210 GRCh37: 5:52393595-52393595
GRCh38: 5:53097765-53097765
14 MOCS2 NM_176806.3(MOCS2):c.-37T>C SNV Uncertain significance 353887 rs757181179 GRCh37: 5:52405596-52405596
GRCh38: 5:53109766-53109766
15 MOCS2 NM_004531.5(MOCS2):c.*1658G>A SNV Uncertain significance 906213 GRCh37: 5:52392774-52392774
GRCh38: 5:53096944-53096944
16 MOCS2 NM_004531.5(MOCS2):c.*1545G>A SNV Uncertain significance 906214 GRCh37: 5:52392887-52392887
GRCh38: 5:53097057-53097057
17 MOCS2 NM_004531.5(MOCS2):c.*1483C>T SNV Uncertain significance 906216 GRCh37: 5:52392949-52392949
GRCh38: 5:53097119-53097119
18 MOCS2 NM_004531.5(MOCS2):c.*1424G>A SNV Uncertain significance 907205 GRCh37: 5:52393008-52393008
GRCh38: 5:53097178-53097178
19 MOCS2 NM_004531.5(MOCS2):c.*1284C>G SNV Uncertain significance 907206 GRCh37: 5:52393148-52393148
GRCh38: 5:53097318-53097318
20 MOCS2 NM_004531.5(MOCS2):c.*1167G>A SNV Uncertain significance 907207 GRCh37: 5:52393265-52393265
GRCh38: 5:53097435-53097435
21 MOCS2 NM_004531.5(MOCS2):c.-54A>C SNV Uncertain significance 587578 rs1561177917 GRCh37: 5:52404358-52404358
GRCh38: 5:53108528-53108528
22 MOCS2 NM_004531.5(MOCS2):c.-630G>T SNV Uncertain significance 870563 GRCh37: 5:52405541-52405541
GRCh38: 5:53109711-53109711
23 MOCS2 NM_004531.5(MOCS2):c.*722T>C SNV Uncertain significance 903860 GRCh37: 5:52393710-52393710
GRCh38: 5:53097880-53097880
24 MOCS2 NM_004531.5(MOCS2):c.*673A>T SNV Uncertain significance 903861 GRCh37: 5:52393759-52393759
GRCh38: 5:53097929-53097929
25 MOCS2 NM_004531.5(MOCS2):c.*651G>A SNV Uncertain significance 903862 GRCh37: 5:52393781-52393781
GRCh38: 5:53097951-53097951
26 MOCS2 NM_004531.5(MOCS2):c.*518C>T SNV Uncertain significance 903864 GRCh37: 5:52393914-52393914
GRCh38: 5:53098084-53098084
27 MOCS2 NM_004531.5(MOCS2):c.*344C>T SNV Uncertain significance 905757 GRCh37: 5:52394088-52394088
GRCh38: 5:53098258-53098258
28 MOCS2 NM_004531.5(MOCS2):c.*122G>A SNV Uncertain significance 905758 GRCh37: 5:52394310-52394310
GRCh38: 5:53098480-53098480
29 MOCS2 NM_004531.5(MOCS2):c.*32C>G SNV Uncertain significance 905759 GRCh37: 5:52394400-52394400
GRCh38: 5:53098570-53098570
30 MOCS2 NM_004531.5(MOCS2):c.-664C>A SNV Uncertain significance 353886 rs764809636 GRCh37: 5:52405575-52405575
GRCh38: 5:53109745-53109745
31 MOCS2 NM_004531.5(MOCS2):c.*372G>A SNV Uncertain significance 353871 rs753919594 GRCh37: 5:52394060-52394060
GRCh38: 5:53098230-53098230
32 MOCS2 NM_004531.5(MOCS2):c.*143G>A SNV Uncertain significance 353874 rs2233223 GRCh37: 5:52394289-52394289
GRCh38: 5:53098459-53098459
33 MOCS2 NM_004531.5(MOCS2):c.-71G>A SNV Uncertain significance 353882 rs773035025 GRCh37: 5:52404375-52404375
GRCh38: 5:53108545-53108545
34 MOCS2 NM_004531.5(MOCS2):c.-642C>T SNV Uncertain significance 353885 rs886060696 GRCh37: 5:52405553-52405553
GRCh38: 5:53109723-53109723
35 MOCS2 NM_004531.5(MOCS2):c.*532G>A SNV Uncertain significance 353869 rs886060695 GRCh37: 5:52393900-52393900
GRCh38: 5:53098070-53098070
36 MOCS2 NM_004531.5(MOCS2):c.-622G>A SNV Uncertain significance 353883 rs373522800 GRCh37: 5:52405533-52405533
GRCh38: 5:53109703-53109703
37 MOCS2 NM_004531.5(MOCS2):c.261C>T (p.Val87=) SNV Uncertain significance 353877 rs777565219 GRCh37: 5:52397305-52397305
GRCh38: 5:53101475-53101475
38 MOCS2 NM_004531.5(MOCS2):c.-10C>T SNV Uncertain significance 353881 rs146074751 GRCh37: 5:52403014-52403014
GRCh38: 5:53107184-53107184
39 MOCS2 NM_004531.5(MOCS2):c.-646G>A SNV Uncertain significance 813890 rs1273139451 GRCh37: 5:52405557-52405557
GRCh38: 5:53109727-53109727
40 MOCS2 NM_004531.5(MOCS2):c.-16G>A SNV Uncertain significance 1034387 GRCh37: 5:52403020-52403020
GRCh38: 5:53107190-53107190
41 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*171G>C SNV Uncertain significance 353873 rs191465075 GRCh37: 5:52394261-52394261
GRCh38: 5:53098431-53098431
42 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*44A>C SNV Uncertain significance 353875 rs367775935 GRCh37: 5:52394388-52394388
GRCh38: 5:53098558-53098558
43 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*2045G>A SNV Uncertain significance 903790 GRCh37: 5:52392387-52392387
GRCh38: 5:53096557-53096557
44 MOCS2 , ITGA2 NM_002203.4(ITGA2):c.*3813G>A SNV Uncertain significance 905632 GRCh37: 5:52390242-52390242
GRCh38: 5:53094412-53094412
45 MOCS2 NM_004531.5(MOCS2):c.*1918A>G SNV Uncertain significance 905688 GRCh37: 5:52392514-52392514
GRCh38: 5:53096684-53096684
46 MOCS2 NM_004531.5(MOCS2):c.*2877G>T SNV Uncertain significance 907141 GRCh37: 5:52391555-52391555
GRCh38: 5:53095725-53095725
47 MOCS2 NM_004531.5(MOCS2):c.*2675A>C SNV Uncertain significance 907142 GRCh37: 5:52391757-52391757
GRCh38: 5:53095927-53095927
48 MOCS2 NM_004531.5(MOCS2):c.*2672G>C SNV Uncertain significance 907143 GRCh37: 5:52391760-52391760
GRCh38: 5:53095930-53095930
49 MOCS2 NM_004531.5(MOCS2):c.*2609G>C SNV Uncertain significance 907145 GRCh37: 5:52391823-52391823
GRCh38: 5:53095993-53095993
50 MOCS2 NM_004531.5(MOCS2):c.-635G>A SNV Uncertain significance 353884 rs572637154 GRCh37: 5:52405546-52405546
GRCh38: 5:53109716-53109716

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.18 MOCS2 MOCS1
2
Show member pathways
10.09 MOCS2 MOCS1

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

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

# Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 8.62 XDH 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
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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