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 58 60 38 30 13 6 74
Dmgdh Deficiency 58 60 76
Dmgdhd 58 76
Deficiency, Dimethylglycine Dehydrogenase 41
Dimethylglycine Dehydrogenase 13
Dmg Dehydrogenase Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
dimethylglycine dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Miscellaneous:
fishy body odor

Inheritance:
autosomal recessive


HPO:

33
dimethylglycine dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 605850
KEGG 38 H01003
ICD10 via Orphanet 35 E72.5
UMLS via Orphanet 75 C1853892
Orphanet 60 ORPHA243343
MedGen 43 C1853892
SNOMED-CT via HPO 70 258211005 80449002
UMLS 74 C1853892

Summaries for Dimethylglycine Dehydrogenase Deficiency

UniProtKB/Swiss-Prot : 76 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. Affiliated tissues include kidney, and related phenotypes are abnormal enzyme/coenzyme activity and increased muscle fatiguability

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 31.3 DMGDH SARDH
2 polycystic kidney disease 10.4

Symptoms & Phenotypes for Dimethylglycine Dehydrogenase Deficiency

Human phenotypes related to Dimethylglycine Dehydrogenase Deficiency:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 60 33 hallmark (90%) Very frequent (99-80%) HP:0012379
2 increased muscle fatiguability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003750
3 fish odor 60 33 hallmark (90%) Very frequent (99-80%) HP:0410020
4 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
5 abnormality of metabolism/homeostasis 60 Very frequent (99-80%)
6 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
7 elevated n,n-dimethylglycine level 33 HP:0031945
8 elevated urinary n,n-dimethylglycine level 33 HP:0031946

Symptoms via clinical synopsis from OMIM:

58
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 30 DMGDH

Anatomical Context for Dimethylglycine Dehydrogenase Deficiency

MalaCards organs/tissues related to Dimethylglycine Dehydrogenase Deficiency:

42
Kidney

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
3
Structure and analysis of the human dimethylglycine dehydrogenase gene. ( 10767172 )
2000
4
Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. ( 10102904 )
1999

Variations for Dimethylglycine Dehydrogenase Deficiency

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

76
# 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
5 DMGDH NM_013391.3(DMGDH): c.2122G> A (p.Asp708Asn) single nucleotide variant Uncertain significance rs745629468 GRCh37 Chromosome 5, 78322315: 78322315
6 DMGDH NM_013391.3(DMGDH): c.2122G> A (p.Asp708Asn) single nucleotide variant Uncertain significance rs745629468 GRCh38 Chromosome 5, 79026492: 79026492

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:

38
# 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 mitochondrion GO:0005739 8.96 DMGDH SARDH
2 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....