MCID: DMT001
MIFTS: 25

Dimethylglycine Dehydrogenase Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Dimethylglycine Dehydrogenase Deficiency

MalaCards integrated aliases for Dimethylglycine Dehydrogenase Deficiency:

Name: Dimethylglycine Dehydrogenase Deficiency 57 59 37 29 13 6 40 73
Dmgdh Deficiency 57 59 75
Dmgdhd 57 75
Dimethylglycine Dehydrogenase 13
Dmg Dehydrogenase Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
dimethylglycine dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
fishy body odor


HPO:

32
dimethylglycine dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 605850
Orphanet 59 ORPHA243343
ICD10 via Orphanet 34 E72.5
UMLS via Orphanet 74 C1853892
MedGen 42 C1853892
KEGG 37 H01003
SNOMED-CT via HPO 69 258211005 80449002
UMLS 73 C1853892

Summaries for Dimethylglycine Dehydrogenase Deficiency

UniProtKB/Swiss-Prot : 75 DMGDH deficiency: Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine.

MalaCards based summary : Dimethylglycine Dehydrogenase Deficiency, also known as dmgdh deficiency, is related to sarcosinemia and polycystic kidney disease, and has symptoms including fishy body odor An important gene associated with Dimethylglycine Dehydrogenase Deficiency is DMGDH (Dimethylglycine Dehydrogenase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Glycerophospholipid biosynthesis. Related phenotypes are elevated serum creatine phosphokinase and abnormal enzyme/coenzyme activity

Description from OMIM: 605850

Related Diseases for Dimethylglycine Dehydrogenase Deficiency

Diseases related to Dimethylglycine Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sarcosinemia 30.2 DMGDH SARDH
2 polycystic kidney disease 10.2

Symptoms & Phenotypes for Dimethylglycine Dehydrogenase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle fatigue

Laboratory Abnormalities:
elevated serum creatine kinase
elevated serum n,n-dimethylglycine (dmg)
elevated urinary n,n-dimethylglycine (dmg)
dimethylglycine dehydrogenase (dmgdh) deficiency


Clinical features from OMIM:

605850

Human phenotypes related to Dimethylglycine Dehydrogenase Deficiency:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
2 abnormal enzyme/coenzyme activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0012379
3 increased muscle fatiguability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003750
4 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)

UMLS symptoms related to Dimethylglycine Dehydrogenase Deficiency:


fishy body odor

Drugs & Therapeutics for Dimethylglycine Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Dimethylglycine Dehydrogenase Deficiency

Genetic Tests for Dimethylglycine Dehydrogenase Deficiency

Genetic tests related to Dimethylglycine Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Dimethylglycine Dehydrogenase Deficiency 29 DMGDH

Anatomical Context for Dimethylglycine Dehydrogenase Deficiency

Publications for Dimethylglycine Dehydrogenase Deficiency

Articles related to Dimethylglycine Dehydrogenase Deficiency:

# Title Authors Year
1
Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. ( 18937046 )
2008
2
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. ( 11231903 )
2001

Variations for Dimethylglycine Dehydrogenase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Dimethylglycine Dehydrogenase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 DMGDH p.His109Arg VAR_011505 rs121908331

ClinVar genetic disease variations for Dimethylglycine Dehydrogenase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DMGDH NM_013391.3(DMGDH): c.326A> G (p.His109Arg) single nucleotide variant Likely pathogenic rs121908331 GRCh37 Chromosome 5, 78351682: 78351682
2 DMGDH NM_013391.3(DMGDH): c.326A> G (p.His109Arg) single nucleotide variant Likely pathogenic rs121908331 GRCh38 Chromosome 5, 79055859: 79055859
3 DMGDH NM_013391.3(DMGDH): c.856C> T (p.Arg286Ter) single nucleotide variant Uncertain significance rs200216040 GRCh38 Chromosome 5, 79044442: 79044442
4 DMGDH NM_013391.3(DMGDH): c.856C> T (p.Arg286Ter) single nucleotide variant Uncertain significance rs200216040 GRCh37 Chromosome 5, 78340265: 78340265

Expression for Dimethylglycine Dehydrogenase Deficiency

Search GEO for disease gene expression data for Dimethylglycine Dehydrogenase Deficiency.

Pathways for Dimethylglycine Dehydrogenase Deficiency

Pathways related to Dimethylglycine Dehydrogenase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260

GO Terms for Dimethylglycine Dehydrogenase Deficiency

Cellular components related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 DMGDH SARDH

Biological processes related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.96 DMGDH SARDH
2 choline catabolic process GO:0042426 8.62 DMGDH SARDH

Molecular functions related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 DMGDH SARDH

Sources for Dimethylglycine Dehydrogenase Deficiency

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
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