MOCODC
MCID: MLY010
MIFTS: 41

Molybdenum Cofactor Deficiency, Complementation Group C (MOCODC)

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

Aliases & Classifications for Molybdenum Cofactor Deficiency, Complementation Group C

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

Name: Molybdenum Cofactor Deficiency, Complementation Group C 57 72 29 6 44 70
Molybdenum Cofactor Deficiency C 57 72 29
Mocodc 57 12 72
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type C 12 58
Molybdenum Cofactor Deficiency Type C 12 15
Mocod Type C 12 58
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type C 58
Deficiency, Molybdenum Cofactor, Complementation Group C 39
Molybdenum Cofactor Deficiency Complementation Group C 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
often results in death in childhood
onset at birth or early infancy
two unrelated families have been reported (last curated october 2013)


HPO:

31
molybdenum cofactor deficiency, complementation group c:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111166
OMIM® 57 615501
OMIM Phenotypic Series 57 PS252150
ICD10 via Orphanet 33 E72.1
UMLS via Orphanet 71 C1854990
Orphanet 58 ORPHA308400
MedGen 41 C1854990
UMLS 70 C1854990

Summaries for Molybdenum Cofactor Deficiency, Complementation Group C

UniProtKB/Swiss-Prot : 72 Molybdenum cofactor deficiency, complementation group C: A form of molybdenum cofactor deficiency, 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.

MalaCards based summary : Molybdenum Cofactor Deficiency, Complementation Group C, also known as molybdenum cofactor deficiency c, is related to molybdenum cofactor deficiency, complementation group b and hypomagnesemia 1, intestinal. An important gene associated with Molybdenum Cofactor Deficiency, Complementation Group C is GPHN (Gephyrin), and among its related pathways/superpathways are Metabolism and Biosynthesis of cofactors. Affiliated tissues include eye, brain and pons, and related phenotypes are hyperreflexia and global developmental delay

Disease Ontology : 12 A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.

More information from OMIM: 615501 PS252150

Related Diseases for Molybdenum Cofactor Deficiency, Complementation Group C

Graphical network of the top 20 diseases related to Molybdenum Cofactor Deficiency, Complementation Group C:



Diseases related to Molybdenum Cofactor Deficiency, Complementation Group C

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency, Complementation Group C

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 global developmental delay 31 HP:0001263
3 polymicrogyria 31 HP:0002126
4 cerebellar hypoplasia 31 HP:0001321
5 poor eye contact 31 HP:0000817
6 poor head control 31 HP:0002421
7 feeding difficulties 31 HP:0011968
8 cerebral atrophy 31 HP:0002059
9 generalized hypotonia 31 HP:0001290
10 generalized-onset seizure 31 HP:0002197
11 spontaneous abortion 31 HP:0005268
12 muscular hypotonia of the trunk 31 HP:0008936
13 increased urinary taurine 31 HP:0003166
14 hypoplasia of the pons 31 HP:0012110
15 opisthotonus 31 HP:0002179
16 hypouricemia 31 HP:0003537
17 sulfite oxidase deficiency 31 HP:0003643
18 bilateral tonic-clonic seizure 31 HP:0002069
19 molybdenum cofactor deficiency 31 HP:0003570

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
cerebellar hypoplasia
cerebral atrophy
opisthotonus
axial hypotonia
pontine hypoplasia
more
Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
no visual contact

Laboratory Abnormalities:
increased urinary taurine
hypouricemia
sulfite oxidase deficiency
molybdenum cofactor deficiency
increased urinary s-sulfocysteine
more
Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM®:

615501 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Molybdenum Cofactor Deficiency, Complementation Group C according to GeneCards Suite gene sharing:

26 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.98 MOCS2 MOCS3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.98 MOCS3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.98 AOX1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 9.98 MOCS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.98 MOCS3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.98 MOCS3 SUOX
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.98 AOX1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.98 MOCS2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.98 MOCS2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.98 MOCS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.98 MOCS3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.98 MOCS2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.98 SUOX
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.98 SUOX
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.98 AOX1 MOCS3 SUOX
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.98 SUOX
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.98 SUOX
18 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.75 SUOX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 AOX1 SUOX
20 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.75 MOCS3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.75 SUOX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.75 SUOX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.75 SUOX
24 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.75 SUOX
25 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.75 SUOX
26 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.75 SUOX
27 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.75 AOX1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.75 SUOX
29 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.75 SUOX
30 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.75 SUOX
31 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.75 SUOX
32 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.75 SUOX
33 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 AOX1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.75 AOX1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.75 MOCS3
36 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.75 MOCS3
37 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 MOCS3
38 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.75 AOX1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.75 MOCS3 SUOX
40 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.75 MOCS3
41 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 AOX1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.75 MOCS3

Drugs & Therapeutics for Molybdenum Cofactor Deficiency, Complementation Group C

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

Cochrane evidence based reviews: molybdenum cofactor deficiency, complementation group c

Genetic Tests for Molybdenum Cofactor Deficiency, Complementation Group C

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

# Genetic test Affiliating Genes
1 Molybdenum Cofactor Deficiency, Complementation Group C 29 GPHN
2 Molybdenum Cofactor Deficiency C 29

Anatomical Context for Molybdenum Cofactor Deficiency, Complementation Group C

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

40
Eye, Brain, Pons

Publications for Molybdenum Cofactor Deficiency, Complementation Group C

Articles related to Molybdenum Cofactor Deficiency, Complementation Group C:

# Title Authors PMID Year
1
A GPHN point mutation leading to molybdenum cofactor deficiency. 6 57
22040219 2011
2
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. 6 57
11095995 2001
3
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. 6
23393157 2013
4
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. 6
23184456 2013
5
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. 57
12754701 2003

Variations for Molybdenum Cofactor Deficiency, Complementation Group C

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

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPHN NM_020806.4(GPHN):c.1838A>C (p.Asp613Ala) SNV Pathogenic 88674 rs397518420 GRCh37: 14:67626133-67626133
GRCh38: 14:67159416-67159416
2 GPHN NC_000014.9:g.(?_66776444)_(66776541_?)del Deletion Pathogenic 831947 GRCh37: 14:67243162-67243259
GRCh38:
3 GPHN NC_000014.9:g.(?_66508508)_(66508611_?)del Deletion Pathogenic 831995 GRCh37: 14:66975226-66975329
GRCh38:
4 GPHN NC_000014.9:g.(?_67122236)_(67122397_?)del Deletion Pathogenic 833419 GRCh37: 14:67588953-67589114
GRCh38:
5 GPHN NC_000014.9:g.(?_66508508)_(66681205_?)del Deletion Pathogenic 833426 GRCh37: 14:66975226-67147923
GRCh38:
6 GPHN NM_020806.4(GPHN):c.1666C>T (p.Arg556Ter) SNV Pathogenic 653059 rs1595241291 GRCh37: 14:67589012-67589012
GRCh38: 14:67122295-67122295
7 GPHN NC_000014.8:g.(?_67243162)_(67391029_?)del Deletion Pathogenic 534558 GRCh37: 14:67243162-67391029
GRCh38:
8 GPHN NC_000014.8:g.(?_67243182)_(67432042_?)del Deletion Pathogenic 584128 GRCh37: 14:67243182-67432042
GRCh38:
9 GPHN NM_020806.4(GPHN):c.65-?_201+?del Deletion Pathogenic 5972 GRCh37: 14:66975310-67291191
GRCh38: 14:66508592-66824473
10 GPHN NC_000014.9:g.(?_66879919)_(66880053_?)del Deletion Pathogenic 655222 GRCh37: 14:67346637-67346771
GRCh38: 14:66879919-66880053
11 GPHN NC_000014.9:g.(?_66824474)_(66824566_?)del Deletion Likely pathogenic 495286 GRCh37: 14:67291192-67291284
GRCh38: 14:66824474-66824566
12 GPHN NC_000014.9:g.(?_66776464)_(66776521_?)del Deletion Likely pathogenic 495287 GRCh37: 14:67243182-67243239
GRCh38: 14:66776464-66776521
13 GPHN NC_000014.8:g.(?_67610059)_(67610186_?)dup Duplication Likely pathogenic 583531 GRCh37: 14:67610059-67610186
GRCh38: 14:67143342-67143469
14 GPHN NC_000014.9:g.(?_66915983)_(66916089_?)dup Duplication Likely pathogenic 831196 GRCh37: 14:67382700-67382806
GRCh38:
15 GPHN NC_000014.8:g.(?_67243157)_(67647704_?)del Deletion Likely pathogenic 495285 GRCh37: 14:67243157-67647704
GRCh38:
16 GPHN NM_020806.5(GPHN):c.2079+2T>C SNV Likely pathogenic 853103 GRCh37: 14:67635755-67635755
GRCh38: 14:67169038-67169038
17 GPHN NM_020806.5(GPHN):c.1989G>A (p.Ser663=) SNV Uncertain significance 859771 GRCh37: 14:67635663-67635663
GRCh38: 14:67168946-67168946
18 GPHN NM_020806.4(GPHN):c.390-3C>T SNV Uncertain significance 645767 rs527251241 GRCh37: 14:67382717-67382717
GRCh38: 14:66916000-66916000
19 GPHN NM_020806.4(GPHN):c.1333A>C (p.Thr445Pro) SNV Uncertain significance 655988 rs1595179146 GRCh37: 14:67576896-67576896
GRCh38: 14:67110179-67110179
20 GPHN NM_020806.4(GPHN):c.1766A>G (p.Asn589Ser) SNV Uncertain significance 665994 rs903197780 GRCh37: 14:67610096-67610096
GRCh38: 14:67143379-67143379
21 GPHN NM_020806.4(GPHN):c.1946G>T (p.Gly649Val) SNV Uncertain significance 466204 rs1555506781 GRCh37: 14:67631914-67631914
GRCh38: 14:67165197-67165197
22 GPHN NM_020806.4(GPHN):c.592A>C (p.Thr198Pro) SNV Uncertain significance 583151 rs776521403 GRCh37: 14:67389518-67389518
GRCh38: 14:66922801-66922801
23 GPHN NM_020806.4(GPHN):c.127G>A (p.Val43Ile) SNV Uncertain significance 566679 rs117256383 GRCh37: 14:67147887-67147887
GRCh38: 14:66681169-66681169
24 GPHN NM_020806.4(GPHN):c.144G>T (p.Leu48Phe) SNV Uncertain significance 573810 rs1381377609 GRCh37: 14:67243182-67243182
GRCh38: 14:66776464-66776464
25 GPHN NM_020806.4(GPHN):c.1831G>A (p.Glu611Lys) SNV Uncertain significance 417881 rs1060499577 GRCh37: 14:67610161-67610161
GRCh38: 14:67143444-67143444
26 GPHN NC_000014.9:g.(?_65957717)_(66508591_?)dup Duplication Uncertain significance 833027 GRCh37: 14:66424435-66975309
GRCh38:
27 GPHN NC_000014.9:g.(?_67058629)_(67180957_?)dup Duplication Uncertain significance 833179 GRCh37: 14:67525346-67647674
GRCh38:
28 GPHN NC_000014.9:g.(?_66965171)_(67100931_?)dup Duplication Uncertain significance 831939 GRCh37: 14:67431888-67567648
GRCh38:
29 GPHN NM_020806.5(GPHN):c.278G>A (p.Arg93Gln) SNV Uncertain significance 852719 GRCh37: 14:67291268-67291268
GRCh38: 14:66824550-66824550
30 GPHN NM_020806.5(GPHN):c.692C>G (p.Ser231Cys) SNV Uncertain significance 999331 GRCh37: 14:67389618-67389618
GRCh38: 14:66922901-66922901
31 GPHN NM_020806.5(GPHN):c.294+5G>A SNV Uncertain significance 1003704 GRCh37: 14:67291289-67291289
GRCh38: 14:66824571-66824571
32 GPHN NM_020806.5(GPHN):c.1819G>A (p.Val607Ile) SNV Uncertain significance 1005804 GRCh37: 14:67610149-67610149
GRCh38: 14:67143432-67143432
33 GPHN NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln) SNV Uncertain significance 1007658 GRCh37: 14:67576891-67576891
GRCh38: 14:67110174-67110174
34 GPHN NM_020806.5(GPHN):c.2176G>A (p.Gly726Ser) SNV Uncertain significance 1007857 GRCh37: 14:67646391-67646391
GRCh38: 14:67179674-67179674
35 GPHN NC_000014.8:g.(?_67490330)_(67635773_?)del Deletion Uncertain significance 1008187 GRCh37: 14:67490330-67635773
GRCh38:
36 GPHN NC_000014.8:g.(?_67431888)_(67567648_?)dup Duplication Uncertain significance 1008188 GRCh37: 14:67431888-67567648
GRCh38:
37 GPHN NM_020806.5(GPHN):c.148G>A (p.Gly50Ser) SNV Uncertain significance 1009436 GRCh37: 14:67243186-67243186
GRCh38: 14:66776468-66776468
38 GPHN NM_020806.5(GPHN):c.1930A>G (p.Thr644Ala) SNV Uncertain significance 1011614 GRCh37: 14:67631898-67631898
GRCh38: 14:67165181-67165181
39 GPHN NM_020806.4(GPHN):c.307G>A (p.Val103Ile) SNV Uncertain significance 534546 rs774132595 GRCh37: 14:67346669-67346669
GRCh38: 14:66879951-66879951
40 GPHN NM_020806.4(GPHN):c.543T>G (p.Asp181Glu) SNV Uncertain significance 569938 rs990423200 GRCh37: 14:67389469-67389469
GRCh38: 14:66922752-66922752
41 GPHN NM_020806.4(GPHN):c.1033G>A (p.Val345Met) SNV Uncertain significance 664311 rs774554831 GRCh37: 14:67525392-67525392
GRCh38: 14:67058675-67058675
42 GPHN NM_020806.5(GPHN):c.685G>A (p.Asp229Asn) SNV Uncertain significance 836564 GRCh37: 14:67389611-67389611
GRCh38: 14:66922894-66922894
43 GPHN NM_020806.5(GPHN):c.1092C>G (p.Ile364Met) SNV Uncertain significance 838750 GRCh37: 14:67525451-67525451
GRCh38: 14:67058734-67058734
44 GPHN NM_020806.5(GPHN):c.172A>T (p.Ile58Leu) SNV Uncertain significance 845070 GRCh37: 14:67243210-67243210
GRCh38: 14:66776492-66776492
45 GPHN NM_020806.5(GPHN):c.100C>T (p.Arg34Cys) SNV Uncertain significance 846899 GRCh37: 14:67147860-67147860
GRCh38: 14:66681142-66681142
46 GPHN NM_020806.5(GPHN):c.325C>A (p.Pro109Thr) SNV Uncertain significance 851393 GRCh37: 14:67346687-67346687
GRCh38: 14:66879969-66879969
47 GPHN NM_020806.5(GPHN):c.931C>T (p.Arg311Cys) SNV Uncertain significance 860759 GRCh37: 14:67432010-67432010
GRCh38: 14:66965293-66965293
48 GPHN NM_020806.5(GPHN):c.1048C>T (p.Arg350Cys) SNV Uncertain significance 934674 GRCh37: 14:67525407-67525407
GRCh38: 14:67058690-67058690
49 GPHN NM_020806.5(GPHN):c.715G>A (p.Ala239Thr) SNV Uncertain significance 955682 GRCh37: 14:67389641-67389641
GRCh38: 14:66922924-66922924
50 GPHN NM_020806.5(GPHN):c.1945G>A (p.Gly649Ser) SNV Uncertain significance 965457 GRCh37: 14:67631913-67631913
GRCh38: 14:67165196-67165196

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

72
# Symbol AA change Variation ID SNP ID
1 GPHN p.Asp580Ala VAR_070275 rs397518420
2 GPHN p.Gly375Asp VAR_075626

Expression for Molybdenum Cofactor Deficiency, Complementation Group C

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

Pathways for Molybdenum Cofactor Deficiency, Complementation Group C

GO Terms for Molybdenum Cofactor Deficiency, Complementation Group C

Cellular components related to Molybdenum Cofactor Deficiency, Complementation Group C 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 C according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.33 SUOX GPHN AOX1
2 metabolic process GO:0008152 9.26 MOCS3 GPHN
3 molybdopterin cofactor biosynthetic process GO:0032324 9.26 MOCS3 MOCS2 MOCS1 GPHN
4 Mo-molybdopterin cofactor biosynthetic process GO:0006777 8.92 MOCS3 MOCS2 MOCS1 GPHN

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.72 SUOX MOCS3 MOCS1 GPHN AOX1
2 nucleotide binding GO:0000166 9.56 MOCS3 MOCS2 MOCS1 GPHN
3 catalytic activity GO:0003824 9.33 MOCS3 MOCS1 GPHN
4 iron-sulfur cluster binding GO:0051536 8.96 MOCS1 AOX1
5 molybdopterin cofactor binding GO:0043546 8.8 SUOX GPHN AOX1

Sources for Molybdenum Cofactor Deficiency, Complementation Group C

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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