MCID: MLY008
MIFTS: 30

Molybdenum Cofactor Deficiency, Complementation Group a

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

Aliases & Classifications for Molybdenum Cofactor Deficiency, Complementation Group a

MalaCards integrated aliases for Molybdenum Cofactor Deficiency, Complementation Group a:

Name: Molybdenum Cofactor Deficiency, Complementation Group a 57 75 29 6 73
Molybdenum Cofactor Deficiency a 57 75 29
Mocoda 57 12 75
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type a 12 59
Mocod Type a 12 59
Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase, Combined Deficiency of 57
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase 75
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type a 59
Deficiency, Molybdenum Cofactor, Complementation Group a 40
Molybdenum Cofactor Deficiency Complementation Group a 12
Molybdenum Cofactor Deficiency, Type a 13
Molybdenum Cofactor Deficiency Type a 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 a:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Molybdenum Cofactor Deficiency, Complementation Group a

OMIM : 57 Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; 607633) and sulfite oxidase (SUOX; 606887), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). (252150)

MalaCards based summary : Molybdenum Cofactor Deficiency, Complementation Group a, also known as molybdenum cofactor deficiency a, is related to molybdenum cofactor deficiency and molybdenum cofactor deficiency, complementation group b, and has symptoms including opisthotonus An important gene associated with Molybdenum Cofactor Deficiency, Complementation Group a is MOCS1 (Molybdenum Cofactor Synthesis 1). Affiliated tissues include eye, and related phenotypes are microcephaly and macrocephaly

Disease Ontology : 12 A molybdenum cofactor deficiency that has material basis in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.

UniProtKB/Swiss-Prot : 75 Molybdenum cofactor deficiency, complementation group A: An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.

Related Diseases for Molybdenum Cofactor Deficiency, Complementation Group a

Diseases related to Molybdenum Cofactor Deficiency, Complementation Group a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 molybdenum cofactor deficiency 11.6
2 molybdenum cofactor deficiency, complementation group b 11.0

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency, Complementation Group a

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:

252150

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

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 macrocephaly 32 HP:0000256
3 long face 32 HP:0000276
4 full cheeks 32 HP:0000293
5 hypertelorism 32 HP:0000316
6 long philtrum 32 HP:0000343
7 nystagmus 32 HP:0000639
8 xanthine nephrolithiasis 32 HP:0000804
9 ectopia lentis 32 HP:0001083
10 intellectual disability 32 HP:0001249
11 seizures 32 HP:0001250
12 spastic tetraparesis 32 HP:0001285
13 growth delay 32 HP:0001510
14 frontal bossing 32 HP:0002007
15 cerebral atrophy 32 HP:0002059
16 hypoplasia of the corpus callosum 32 HP:0002079
17 ventriculomegaly 32 HP:0002119
18 gliosis 32 HP:0002171
19 opisthotonus 32 HP:0002179
20 spastic tetraplegia 32 HP:0002510
21 aldehyde oxidase deficiency 32 HP:0002932
22 increased urinary taurine 32 HP:0003166
23 short nose 32 HP:0003196
24 decreased urinary sulfate 32 HP:0003359
25 axonal loss 32 HP:0003447
26 reduced xanthine dehydrogenase activity 32 HP:0003534
27 hypouricemia 32 HP:0003537
28 molybdenum cofactor deficiency 32 HP:0003570
29 absent urinary urothione 32 HP:0003606
30 sulfite oxidase deficiency 32 HP:0003643
31 myoclonic spasms 32 HP:0003739
32 feeding difficulties in infancy 32 HP:0008872
33 xanthinuria 32 HP:0010934
34 peripheral demyelination 32 HP:0011096
35 increased urinary hypoxanthine 32 HP:0011814
36 decreased urinary urate 32 HP:0011935
37 increased urinary sulfite 32 HP:0011942
38 increased urinary thiosulfate 32 HP:0011943
39 thick vermilion border 32 HP:0012471

UMLS symptoms related to Molybdenum Cofactor Deficiency, Complementation Group a:


opisthotonus

Drugs & Therapeutics for Molybdenum Cofactor Deficiency, Complementation Group a

Search Clinical Trials , NIH Clinical Center for Molybdenum Cofactor Deficiency, Complementation Group a

Genetic Tests for Molybdenum Cofactor Deficiency, Complementation Group a

Genetic tests related to Molybdenum Cofactor Deficiency, Complementation Group a:

# Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency, Complementation Group a 29 MOCS1
2 Molybdenum Cofactor Deficiency a 29

Anatomical Context for Molybdenum Cofactor Deficiency, Complementation Group a

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

41
Eye

Publications for Molybdenum Cofactor Deficiency, Complementation Group a

Articles related to Molybdenum Cofactor Deficiency, Complementation Group a:

# Title Authors Year
1
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. ( 29696052 )
2018
2
Choice of anesthesia in molybdenum cofactor deficiency: A case report. ( 25657759 )
2014
3
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. ( 23430915 )
2012

Variations for Molybdenum Cofactor Deficiency, Complementation Group a

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

75
# Symbol AA change Variation ID SNP ID
1 MOCS1 p.Arg73Trp VAR_015658 rs104893970
2 MOCS1 p.Gly126Asp VAR_015659 rs372246702
3 MOCS1 p.Gly127Asp VAR_015660
4 MOCS1 p.Arg319Gln VAR_015661 rs104893969
5 MOCS1 p.Gly324Glu VAR_015662
6 MOCS1 p.Arg67Trp VAR_054823 rs754441164
7 MOCS1 p.Cys80Gly VAR_054824 rs151141411
8 MOCS1 p.Cys84Phe VAR_054825
9 MOCS1 p.Arg123Trp VAR_054826 rs779592342
10 MOCS1 p.Gly324Arg VAR_054827 rs762253951

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

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 MOCS1 NM_001075098.3(MOCS1): c.722delT (p.Leu241Argfs) deletion Pathogenic rs397518418 GRCh37 Chromosome 6, 39881096: 39881096
2 MOCS1 NM_001075098.3(MOCS1): c.722delT (p.Leu241Argfs) deletion Pathogenic rs397518418 GRCh38 Chromosome 6, 39913352: 39913352
3 MOCS1 NM_001075098.3(MOCS1): c.*365_*366delAG deletion Pathogenic rs397518419 GRCh37 Chromosome 6, 39874535: 39874536
4 MOCS1 NM_001075098.3(MOCS1): c.*365_*366delAG deletion Pathogenic rs397518419 GRCh38 Chromosome 6, 39906759: 39906760
5 MOCS1 NM_001075098.3(MOCS1): c.956G> A (p.Arg319Gln) single nucleotide variant Pathogenic rs104893969 GRCh37 Chromosome 6, 39880033: 39880033
6 MOCS1 NM_001075098.3(MOCS1): c.956G> A (p.Arg319Gln) single nucleotide variant Pathogenic rs104893969 GRCh38 Chromosome 6, 39912289: 39912289
7 MOCS1 NM_001075098.3(MOCS1): c.418+1G> A single nucleotide variant Pathogenic rs141982812 GRCh37 Chromosome 6, 39893421: 39893421
8 MOCS1 NM_001075098.3(MOCS1): c.418+1G> A single nucleotide variant Pathogenic rs141982812 GRCh38 Chromosome 6, 39925677: 39925677
9 MOCS1 NM_001075098.3(MOCS1): c.217C> T (p.Arg73Trp) single nucleotide variant Pathogenic rs104893970 GRCh37 Chromosome 6, 39895101: 39895101
10 MOCS1 NM_001075098.3(MOCS1): c.217C> T (p.Arg73Trp) single nucleotide variant Pathogenic rs104893970 GRCh38 Chromosome 6, 39927362: 39927362
11 MOCS1 NM_001075098.3(MOCS1): c.1015C> T (p.Arg339Trp) single nucleotide variant Uncertain significance rs148579886 GRCh37 Chromosome 6, 39877666: 39877666
12 MOCS1 NM_001075098.3(MOCS1): c.1015C> T (p.Arg339Trp) single nucleotide variant Uncertain significance rs148579886 GRCh38 Chromosome 6, 39909922: 39909922
13 MOCS1 NM_005943.5(MOCS1): c.853G> A (p.Glu285Lys) single nucleotide variant Uncertain significance rs140243105 GRCh37 Chromosome 6, 39880653: 39880653
14 MOCS1 NM_005943.5(MOCS1): c.853G> A (p.Glu285Lys) single nucleotide variant Uncertain significance rs140243105 GRCh38 Chromosome 6, 39912909: 39912909
15 MOCS1 NM_005943.5(MOCS1): c.330C> T (p.Leu110=) single nucleotide variant Benign/Likely benign rs61746375 GRCh38 Chromosome 6, 39925766: 39925766
16 MOCS1 NM_005943.5(MOCS1): c.330C> T (p.Leu110=) single nucleotide variant Benign/Likely benign rs61746375 GRCh37 Chromosome 6, 39893510: 39893510
17 MOCS1 NM_005943.5(MOCS1): c.55G> A (p.Gly19Ser) single nucleotide variant Likely benign rs45487695 GRCh37 Chromosome 6, 39895263: 39895263
18 MOCS1 NM_005943.5(MOCS1): c.55G> A (p.Gly19Ser) single nucleotide variant Likely benign rs45487695 GRCh38 Chromosome 6, 39927524: 39927524
19 GPHN NM_020806.4(GPHN): c.26C> G (p.Thr9Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150226537 GRCh38 Chromosome 14, 66508553: 66508553
20 GPHN NM_020806.4(GPHN): c.26C> G (p.Thr9Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150226537 GRCh37 Chromosome 14, 66975271: 66975271
21 GPHN NM_020806.4(GPHN): c.800A> G (p.Asn267Ser) single nucleotide variant Likely benign rs41285470 GRCh37 Chromosome 14, 67390981: 67390981
22 GPHN NM_020806.4(GPHN): c.800A> G (p.Asn267Ser) single nucleotide variant Likely benign rs41285470 GRCh38 Chromosome 14, 66924264: 66924264
23 MOCS1 NM_005943.5(MOCS1): c.717C> A (p.Leu239=) single nucleotide variant Likely benign GRCh38 Chromosome 6, 39913357: 39913357
24 MOCS1 NM_005943.5(MOCS1): c.717C> A (p.Leu239=) single nucleotide variant Likely benign GRCh37 Chromosome 6, 39881101: 39881101
25 MOCS1 NM_005943.5(MOCS1): c.162G> A (p.Ala54=) single nucleotide variant Likely benign rs200316862 GRCh37 Chromosome 6, 39895156: 39895156
26 MOCS1 NM_005943.5(MOCS1): c.162G> A (p.Ala54=) single nucleotide variant Likely benign rs200316862 GRCh38 Chromosome 6, 39927417: 39927417
27 MOCS1 NM_005943.5(MOCS1): c.1150G> A (p.Gly384Ser) single nucleotide variant Uncertain significance rs751603831 GRCh38 Chromosome 6, 39909055: 39909055
28 MOCS1 NM_005943.5(MOCS1): c.1150G> A (p.Gly384Ser) single nucleotide variant Uncertain significance rs751603831 GRCh37 Chromosome 6, 39876831: 39876831
29 MOCS1 NM_005943.5(MOCS1): c.1064T> C (p.Ile355Thr) single nucleotide variant Uncertain significance rs143912353 GRCh37 Chromosome 6, 39877617: 39877617
30 MOCS1 NM_005943.5(MOCS1): c.1064T> C (p.Ile355Thr) single nucleotide variant Uncertain significance rs143912353 GRCh38 Chromosome 6, 39909873: 39909873

Expression for Molybdenum Cofactor Deficiency, Complementation Group a

Search GEO for disease gene expression data for Molybdenum Cofactor Deficiency, Complementation Group a.

Pathways for Molybdenum Cofactor Deficiency, Complementation Group a

GO Terms for Molybdenum Cofactor Deficiency, Complementation Group a

Sources for Molybdenum Cofactor Deficiency, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....