MCID: MLY009
MIFTS: 27

Molybdenum Cofactor Deficiency, Complementation Group B

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal 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 75 29 6 73
Mocodb 57 12 75
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type B 12 59
Molybdenum Cofactor Deficiency B 57 75
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
Molybdenum Cofactor Deficiency Type 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:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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 mocodb, is related to 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). 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 : 75 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 28.8 LOC257396 MOCS2

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency, Complementation Group B

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

Laboratory Abnormalities:
increased urinary taurine
hypouricemia
increased urinary xanthine
increased urinary hypoxanthine
increased urinary s-sulfocysteine
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

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

32 (show all 28)
# 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 short nose 32 HP:0003196
6 thick vermilion border 32 HP:0012471
7 microcephaly 32 HP:0000252
8 spastic tetraplegia 32 HP:0002510
9 full cheeks 32 HP:0000293
10 long philtrum 32 HP:0000343
11 feeding difficulties 32 HP:0011968
12 growth delay 32 HP:0001510
13 ventriculomegaly 32 HP:0002119
14 ectopia lentis 32 HP:0001083
15 long face 32 HP:0000276
16 hypoplasia of the corpus callosum 32 HP:0002079
17 peripheral demyelination 32 HP:0011096
18 cerebral atrophy 32 HP:0002059
19 opisthotonus 32 HP:0002179
20 gliosis 32 HP:0002171
21 axonal loss 32 HP:0003447
22 increased urinary taurine 32 HP:0003166
23 myoclonic spasms 32 HP:0003739
24 hypouricemia 32 HP:0003537
25 increased urinary hypoxanthine 32 HP:0011814
26 molybdenum cofactor deficiency 32 HP:0003570
27 xanthinuria 32 HP:0010934
28 xanthine nephrolithiasis 32 HP:0000804

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

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

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:

# Title Authors Year
1
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. ( 27138983 )
2016
2
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. ( 10053004 )
1999

Variations for Molybdenum Cofactor Deficiency, Complementation Group B

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

75
# 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 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MOCS2 NM_004531.4(MOCS2): c.539_540delAA (p.Lys180Argfs) deletion Likely pathogenic rs398122797 GRCh37 Chromosome 5, 52394459: 52394460
2 MOCS2 NM_004531.4(MOCS2): c.539_540delAA (p.Lys180Argfs) deletion Likely pathogenic rs398122797 GRCh38 Chromosome 5, 53098629: 53098630
3 MOCS2 NM_004531.4(MOCS2): c.502G> A (p.Glu168Lys) single nucleotide variant Pathogenic rs121908605 GRCh37 Chromosome 5, 52394497: 52394497
4 MOCS2 NM_004531.4(MOCS2): c.502G> A (p.Glu168Lys) single nucleotide variant Pathogenic rs121908605 GRCh38 Chromosome 5, 53098667: 53098667
5 MOCS2 NM_004531.4(MOCS2): c.65dupC (p.Leu23Ilefs) duplication Pathogenic rs398122799 GRCh37 Chromosome 5, 52402940: 52402940
6 MOCS2 NM_004531.4(MOCS2): c.65dupC (p.Leu23Ilefs) duplication Pathogenic rs398122799 GRCh38 Chromosome 5, 53107110: 53107110
7 MOCS2 NM_004531.4(MOCS2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121908606 GRCh37 Chromosome 5, 52403002: 52403002
8 MOCS2 NM_004531.4(MOCS2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121908606 GRCh38 Chromosome 5, 53107172: 53107172
9 MOCS2 NM_176806.3(MOCS2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs121908607 GRCh37 Chromosome 5, 52405544: 52405544
10 MOCS2 NM_176806.3(MOCS2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs121908607 GRCh38 Chromosome 5, 53109714: 53109714
11 MOCS2 NM_176806.3(MOCS2): c.19G> T (p.Val7Phe) single nucleotide variant Pathogenic rs121908608 GRCh37 Chromosome 5, 52404473: 52404473
12 MOCS2 NM_176806.3(MOCS2): c.19G> T (p.Val7Phe) single nucleotide variant Pathogenic rs121908608 GRCh38 Chromosome 5, 53108643: 53108643
13 MOCS2 NM_004531.4(MOCS2): c.567A> C (p.Ter189Tyr) single nucleotide variant Pathogenic rs121908609 GRCh37 Chromosome 5, 52394432: 52394432
14 MOCS2 NM_004531.4(MOCS2): c.567A> C (p.Ter189Tyr) single nucleotide variant Pathogenic rs121908609 GRCh38 Chromosome 5, 53098602: 53098602
15 MOCS2 NM_004531.4(MOCS2): c.-656_-634del23 deletion Pathogenic rs397518417 GRCh37 Chromosome 5, 52405545: 52405567
16 MOCS2 NM_004531.4(MOCS2): c.-656_-634del23 deletion Pathogenic rs397518417 GRCh38 Chromosome 5, 53109715: 53109737

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

Sources for Molybdenum Cofactor Deficiency, Complementation Group B

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