MOCODC
MCID: MLY010
MIFTS: 24

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 75 29 6 44 73
Mocodc 57 12 75
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type C 12 59
Molybdenum Cofactor Deficiency C 57 75
Mocod Type C 12 59
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type C 59
Deficiency, Molybdenum Cofactor, Complementation Group C 40
Molybdenum Cofactor Deficiency Complementation Group C 12
Molybdenum Cofactor Deficiency Type C 12

Characteristics:

OMIM:

57
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)


Classifications:



External Ids:

OMIM 57 615501
Disease Ontology 12 DOID:0111166
Orphanet 59 ORPHA308400
ICD10 via Orphanet 34 E72.1
UMLS via Orphanet 74 C1854990
MedGen 42 C1854990
UMLS 73 C1854990

Summaries for Molybdenum Cofactor Deficiency, Complementation Group C

UniProtKB/Swiss-Prot : 75 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, is also known as mocodc. An important gene associated with Molybdenum Cofactor Deficiency, Complementation Group C is GPHN (Gephyrin). 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.

Description from OMIM: 615501

Related Diseases for Molybdenum Cofactor Deficiency, Complementation Group C

Symptoms & Phenotypes for Molybdenum Cofactor Deficiency, Complementation Group C

Symptoms via clinical synopsis from OMIM:

57
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
increased urinary s-sulfocysteine
decreased xanthine dehydrogenase activity
molybdenum cofactor deficiency
more
Abdomen Gastrointestinal:
poor feeding


Clinical features from OMIM:

615501

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 HP:0001347
2 global developmental delay 32 HP:0001263
3 feeding difficulties 32 HP:0011968
4 generalized tonic-clonic seizures 32 HP:0002069
5 cerebellar hypoplasia 32 HP:0001321
6 polymicrogyria 32 HP:0002126
7 spontaneous abortion 32 HP:0005268
8 cerebral atrophy 32 HP:0002059
9 poor head control 32 HP:0002421
10 opisthotonus 32 HP:0002179
11 increased urinary taurine 32 HP:0003166
12 hypoplasia of the pons 32 HP:0012110
13 muscular hypotonia of the trunk 32 HP:0008936
14 poor eye contact 32 HP:0000817
15 hypouricemia 32 HP:0003537
16 molybdenum cofactor deficiency 32 HP:0003570
17 sulfite oxidase deficiency 32 HP:0003643

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

Anatomical Context for Molybdenum Cofactor Deficiency, Complementation Group C

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

41
Eye, Brain, Pons

Publications for Molybdenum Cofactor Deficiency, Complementation Group C

Variations for Molybdenum Cofactor Deficiency, Complementation Group C

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

75
# Symbol AA change Variation ID SNP ID
1 GPHN p.Asp580Ala VAR_070275 rs397518420
2 GPHN p.Gly375Asp VAR_075626

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

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPHN NM_020806.4(GPHN): c.65-?_201+?del deletion Pathogenic GRCh37 Chromosome 14, 66975310: 67291191
2 GPHN NM_020806.4(GPHN): c.65-?_201+?del deletion Pathogenic GRCh38 Chromosome 14, 66508592: 66824473
3 GPHN NM_020806.4(GPHN): c.28A> T (p.Asn10Tyr) single nucleotide variant Uncertain significance rs121908539 GRCh37 Chromosome 14, 66975273: 66975273
4 GPHN NM_020806.4(GPHN): c.28A> T (p.Asn10Tyr) single nucleotide variant Uncertain significance rs121908539 GRCh38 Chromosome 14, 66508555: 66508555
5 GPHN NM_020806.4(GPHN): c.1838A> C (p.Asp613Ala) single nucleotide variant Pathogenic rs397518420 GRCh37 Chromosome 14, 67626133: 67626133
6 GPHN NM_020806.4(GPHN): c.1838A> C (p.Asp613Ala) single nucleotide variant Pathogenic rs397518420 GRCh38 Chromosome 14, 67159416: 67159416
7 GPHN NM_020806.4(GPHN): c.127G> T (p.Val43Leu) single nucleotide variant Benign/Likely benign rs117256383 GRCh37 Chromosome 14, 67147887: 67147887
8 GPHN NM_020806.4(GPHN): c.127G> T (p.Val43Leu) single nucleotide variant Benign/Likely benign rs117256383 GRCh38 Chromosome 14, 66681169: 66681169
9 GPHN NM_020806.4(GPHN): c.1831G> A (p.Glu611Lys) single nucleotide variant Uncertain significance rs1060499577 GRCh37 Chromosome 14, 67610161: 67610161
10 GPHN NM_020806.4(GPHN): c.1831G> A (p.Glu611Lys) single nucleotide variant Uncertain significance rs1060499577 GRCh38 Chromosome 14, 67143444: 67143444
11 GPHN NM_020806.4(GPHN): c.1558A> T (p.Thr520Ser) single nucleotide variant Uncertain significance rs749747472 GRCh37 Chromosome 14, 67579820: 67579820
12 GPHN NM_020806.4(GPHN): c.1558A> T (p.Thr520Ser) single nucleotide variant Uncertain significance rs749747472 GRCh38 Chromosome 14, 67113103: 67113103
13 GPHN NM_020806.4(GPHN): c.1734T> C (p.Gly578=) single nucleotide variant Benign rs77465022 GRCh37 Chromosome 14, 67589080: 67589080
14 GPHN NM_020806.4(GPHN): c.1734T> C (p.Gly578=) single nucleotide variant Benign rs77465022 GRCh38 Chromosome 14, 67122363: 67122363
15 GPHN NM_020806.4(GPHN): c.2176+9T> C single nucleotide variant Benign rs74939746 GRCh37 Chromosome 14, 67646400: 67646400
16 GPHN NM_020806.4(GPHN): c.2176+9T> C single nucleotide variant Benign rs74939746 GRCh38 Chromosome 14, 67179683: 67179683
17 GPHN NM_020806.4(GPHN): c.26C> G (p.Thr9Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150226537 GRCh37 Chromosome 14, 66975271: 66975271
18 GPHN NM_020806.4(GPHN): c.26C> G (p.Thr9Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150226537 GRCh38 Chromosome 14, 66508553: 66508553
19 GPHN NM_020806.4(GPHN): c.271G> A (p.Ala91Thr) single nucleotide variant Uncertain significance rs140021399 GRCh37 Chromosome 14, 67291261: 67291261
20 GPHN NM_020806.4(GPHN): c.271G> A (p.Ala91Thr) single nucleotide variant Uncertain significance rs140021399 GRCh38 Chromosome 14, 66824543: 66824543
21 GPHN NM_020806.4(GPHN): c.633A> G (p.Gln211=) single nucleotide variant Likely benign rs151322023 GRCh37 Chromosome 14, 67389559: 67389559
22 GPHN NM_020806.4(GPHN): c.633A> G (p.Gln211=) single nucleotide variant Likely benign rs151322023 GRCh38 Chromosome 14, 66922842: 66922842
23 GPHN NM_020806.4(GPHN): c.2080-4G> T single nucleotide variant Likely benign rs760469629 GRCh37 Chromosome 14, 67646291: 67646291
24 GPHN NM_020806.4(GPHN): c.2080-4G> T single nucleotide variant Likely benign rs760469629 GRCh38 Chromosome 14, 67179574: 67179574
25 GPHN NM_020806.4(GPHN): c.716C> G (p.Ala239Gly) single nucleotide variant Uncertain significance rs746967730 GRCh37 Chromosome 14, 67389642: 67389642
26 GPHN NM_020806.4(GPHN): c.716C> G (p.Ala239Gly) single nucleotide variant Uncertain significance rs746967730 GRCh38 Chromosome 14, 66922925: 66922925
27 GPHN NM_020806.4(GPHN): c.1173T> C (p.Asp391=) single nucleotide variant Likely benign rs147709250 GRCh37 Chromosome 14, 67555728: 67555728
28 GPHN NM_020806.4(GPHN): c.1173T> C (p.Asp391=) single nucleotide variant Likely benign rs147709250 GRCh38 Chromosome 14, 67089011: 67089011
29 GPHN NM_020806.4(GPHN): c.1414-4A> C single nucleotide variant Benign rs111956954 GRCh37 Chromosome 14, 67578574: 67578574
30 GPHN NM_020806.4(GPHN): c.1414-4A> C single nucleotide variant Benign rs111956954 GRCh38 Chromosome 14, 67111857: 67111857
31 GPHN NM_020806.4(GPHN): c.1946G> T (p.Gly649Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 67631914: 67631914
32 GPHN NM_020806.4(GPHN): c.1946G> T (p.Gly649Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 67165197: 67165197
33 GPHN NM_020806.4(GPHN): c.1971A> C (p.Leu657=) single nucleotide variant Likely benign rs150799851 GRCh37 Chromosome 14, 67631939: 67631939
34 GPHN NM_020806.4(GPHN): c.1971A> C (p.Leu657=) single nucleotide variant Likely benign rs150799851 GRCh38 Chromosome 14, 67165222: 67165222
35 GPHN NM_020806.4(GPHN): c.327A> G (p.Pro109=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 67346689: 67346689
36 GPHN NM_020806.4(GPHN): c.327A> G (p.Pro109=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 66879971: 66879971
37 GPHN NM_020806.4(GPHN): c.800A> G (p.Asn267Ser) single nucleotide variant Likely benign rs41285470 GRCh37 Chromosome 14, 67390981: 67390981
38 GPHN NM_020806.4(GPHN): c.800A> G (p.Asn267Ser) single nucleotide variant Likely benign rs41285470 GRCh38 Chromosome 14, 66924264: 66924264
39 GPHN NM_020806.4(GPHN): c.963+10G> A single nucleotide variant Benign rs41310850 GRCh37 Chromosome 14, 67432052: 67432052
40 GPHN NM_020806.4(GPHN): c.963+10G> A single nucleotide variant Benign rs41310850 GRCh38 Chromosome 14, 66965335: 66965335
41 GPHN NM_020806.4(GPHN): c.1797T> C (p.Asp599=) single nucleotide variant Benign rs41285476 GRCh37 Chromosome 14, 67610127: 67610127
42 GPHN NM_020806.4(GPHN): c.1797T> C (p.Asp599=) single nucleotide variant Benign rs41285476 GRCh38 Chromosome 14, 67143410: 67143410
43 GPHN NC_000014.8: g.(?_67243157)_(67647704_?)del deletion Likely pathogenic GRCh37 Chromosome 14, 67243157: 67647704
44 GPHN NC_000014.9: g.(?_66776464)_(66776521_?)del deletion Likely pathogenic GRCh37 Chromosome 14, 67243182: 67243239
45 GPHN NC_000014.9: g.(?_66776464)_(66776521_?)del deletion Likely pathogenic GRCh38 Chromosome 14, 66776464: 66776521
46 GPHN NC_000014.9: g.(?_66824474)_(66824566_?)del deletion Likely pathogenic GRCh38 Chromosome 14, 66824474: 66824566
47 GPHN NC_000014.9: g.(?_66824474)_(66824566_?)del deletion Likely pathogenic GRCh37 Chromosome 14, 67291192: 67291284
48 GPHN NC_000014.8: g.(?_67243162)_(67391029_?)del deletion Pathogenic GRCh37 Chromosome 14, 67243162: 67391029
49 GPHN NM_020806.4(GPHN): c.1004C> A (p.Ala335Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 67490390: 67490390
50 GPHN NM_020806.4(GPHN): c.1004C> A (p.Ala335Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 67023673: 67023673

Expression for Molybdenum Cofactor Deficiency, Complementation Group C

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Pathways for Molybdenum Cofactor Deficiency, Complementation Group C

GO Terms for Molybdenum Cofactor Deficiency, Complementation Group C

Sources for Molybdenum Cofactor Deficiency, Complementation Group C

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