DMGDHD
MCID: DMT001
MIFTS: 27

Dimethylglycine Dehydrogenase Deficiency (DMGDHD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Dimethylglycine Dehydrogenase Deficiency

MalaCards integrated aliases for Dimethylglycine Dehydrogenase Deficiency:

Name: Dimethylglycine Dehydrogenase Deficiency 56 58 36 29 13 6 71
Dmgdh Deficiency 56 58 73
Dmgdhd 56 73
Deficiency, Dimethylglycine Dehydrogenase 39
Dmg Dehydrogenase Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
dimethylglycine dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Miscellaneous:
fishy body odor

Inheritance:
autosomal recessive


HPO:

31
dimethylglycine dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 605850
KEGG 36 H01003
ICD10 via Orphanet 33 E72.5
UMLS via Orphanet 72 C1853892
Orphanet 58 ORPHA243343
MedGen 41 C1853892
SNOMED-CT via HPO 68 258211005 80449002
UMLS 71 C1853892

Summaries for Dimethylglycine Dehydrogenase Deficiency

KEGG : 36 Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism of choline.

MalaCards based summary : Dimethylglycine Dehydrogenase Deficiency, also known as dmgdh deficiency, is related to primary trimethylaminuria and sarcosinemia, 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 kinase and abnormal enzyme/coenzyme activity

UniProtKB/Swiss-Prot : 73 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.

More information 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 primary trimethylaminuria 10.1
2 sarcosinemia 9.2 SARDH DMGDH

Symptoms & Phenotypes for Dimethylglycine Dehydrogenase Deficiency

Human phenotypes related to Dimethylglycine Dehydrogenase Deficiency:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
2 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
3 increased muscle fatiguability 58 31 hallmark (90%) Very frequent (99-80%) HP:0003750
4 fish odor 58 31 hallmark (90%) Very frequent (99-80%) HP:0410020
5 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
6 elevated n,n-dimethylglycine level 31 HP:0031945
7 elevated urinary n,n-dimethylglycine level 31 HP:0031946

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
elevated serum creatine kinase
elevated serum n,n-dimethylglycine (dmg)
elevated urinary n,n-dimethylglycine (dmg)
dimethylglycine dehydrogenase (dmgdh) deficiency

Muscle Soft Tissue:
muscle fatigue

Clinical features from OMIM:

605850

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 PMID Year
1
Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. 6 56
10102904 1999
2
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. 6 61
11231903 2001
3
Structure and analysis of the human dimethylglycine dehydrogenase gene. 6
10767172 2000
4
[DMGDH gene-related dimethylglycine dehydrogenase deficiency in a case]. 61
28881522 2017
5
Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant. 61
27486859 2016
6
Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. 61
18937046 2008

Variations for Dimethylglycine Dehydrogenase Deficiency

ClinVar genetic disease variations for Dimethylglycine Dehydrogenase Deficiency:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMGDH NM_013391.3(DMGDH):c.326A>G (p.His109Arg)SNV Likely pathogenic 4742 rs121908331 5:78351682-78351682 5:79055859-79055859
2 DMGDH NM_013391.3(DMGDH):c.856C>T (p.Arg286Ter)SNV Uncertain significance 225340 rs200216040 5:78340265-78340265 5:79044442-79044442
3 DMGDH NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn)SNV Uncertain significance 548521 rs745629468 5:78322315-78322315 5:79026492-79026492

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

73
# Symbol AA change Variation ID SNP ID
1 DMGDH p.His109Arg VAR_011505 rs121908331

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:

36
# 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 SARDH DMGDH

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 SARDH DMGDH
2 choline catabolic process GO:0042426 8.62 SARDH DMGDH

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 SARDH DMGDH

Sources for Dimethylglycine Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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