MCID: MLY005
MIFTS: 24

Molybdenum Cofactor Deficiency B

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

Aliases & Classifications for Molybdenum Cofactor Deficiency B

MalaCards integrated aliases for Molybdenum Cofactor Deficiency B:

Name: Molybdenum Cofactor Deficiency B 54 71
Molybdenum Cofactor Deficiency, Complementation Group B 71 29 69
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type B 56
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type B 56
Mocod Type B 56
Mocodb 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Molybdenum Cofactor Deficiency B

OMIM : 54
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 B, is also known as molybdenum cofactor deficiency, complementation group b, and has symptoms including nystagmus, ventriculomegaly and cerebral atrophy. An important gene associated with Molybdenum Cofactor Deficiency B is MOCS2 (Molybdenum Cofactor Synthesis 2). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 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 B

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency B

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
dislocated lenses
spherophakia
elongated palpebral fissures
widely spaced eyes

Head And Neck- Head:
microcephaly
frontal bossing
macrocephaly

Abdomen- Gastroin testinal:
poor feeding

Growth- Other:
poor growth

Skeletal- Skull:
asymmetric skull

Muscle Soft Tissue:
myoclonic spasms

Neurologic- Central Nervous System:
cerebral atrophy
spastic quadriplegia
seizures, intractable
enlarged ventricles
opisthotonos
more
Head And Neck- Face:
long face
long philtrum
puffy cheeks

Head And Neck- Mouth:
thick lips

Head And Neck- Nose:
small nose

Laboratory- Abnormalities:
xanthine stones
hypouricemia
increased urinary xanthine
increased urinary hypoxanthine
increased urinary s-sulfocysteine
more

Clinical features from OMIM:

252160

Human phenotypes related to Molybdenum Cofactor Deficiency B:

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

UMLS symptoms related to Molybdenum Cofactor Deficiency B:


opisthotonus

Drugs & Therapeutics for Molybdenum Cofactor Deficiency B

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

Genetic Tests for Molybdenum Cofactor Deficiency B

Genetic tests related to Molybdenum Cofactor Deficiency B:

id Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency, Complementation Group B 29

Anatomical Context for Molybdenum Cofactor Deficiency B

MalaCards organs/tissues related to Molybdenum Cofactor Deficiency B:

39
Eye

Publications for Molybdenum Cofactor Deficiency B

Variations for Molybdenum Cofactor Deficiency B

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

71
id 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 B:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MOCS2 NM_004531.4(MOCS2): c.539_540delAA (p.Lys180Argfs) deletion Pathogenic/Likely pathogenic rs398122797 GRCh37 Chromosome 5, 52394459: 52394460
2 MOCS2 NM_004531.4(MOCS2): c.502G> A (p.Glu168Lys) single nucleotide variant Pathogenic rs121908605 GRCh37 Chromosome 5, 52394497: 52394497
3 MOCS2 NM_004531.4(MOCS2): c.65dupC (p.Leu23Ilefs) duplication Pathogenic rs398122799 GRCh37 Chromosome 5, 52402940: 52402940
4 MOCS2 NM_004531.4(MOCS2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121908606 GRCh37 Chromosome 5, 52403002: 52403002
5 MOCS2 NM_176806.3(MOCS2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs121908607 GRCh37 Chromosome 5, 52405544: 52405544
6 MOCS2 NM_176806.3(MOCS2): c.19G> T (p.Val7Phe) single nucleotide variant Pathogenic rs121908608 GRCh37 Chromosome 5, 52404473: 52404473
7 MOCS2 NM_004531.4(MOCS2): c.567A> C (p.Ter189Tyr) single nucleotide variant Pathogenic rs121908609 GRCh37 Chromosome 5, 52394432: 52394432
8 MOCS2 NM_004531.4(MOCS2): c.-656_-634del23 deletion Pathogenic rs397518417 GRCh37 Chromosome 5, 52405545: 52405567

Expression for Molybdenum Cofactor Deficiency B

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

Pathways for Molybdenum Cofactor Deficiency B

GO Terms for Molybdenum Cofactor Deficiency B

Sources for Molybdenum Cofactor Deficiency B

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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