Dimethylglycine Dehydrogenase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of glycine metabolism

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

Sources

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

Sources

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

Sources

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

Sources

Drugs & Therapeutics for Dimethylglycine Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Dimethylglycine Dehydrogenase Deficiency

Sources

Genetic Tests for Dimethylglycine Dehydrogenase Deficiency

Genetic tests related to Dimethylglycine Dehydrogenase Deficiency:

#	Genetic test	Affiliating Genes
1	Dimethylglycine Dehydrogenase Deficiency ²⁹	DMGDH

Sources

Anatomical Context for Dimethylglycine Dehydrogenase Deficiency

Sources

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	Moolenaar SH...Wevers RA	10102904	1999
2	Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. ⁶ ⁶¹	Binzak BA...Vockley J	11231903	2001
3	Structure and analysis of the human dimethylglycine dehydrogenase gene. ⁶	Binzak BA...Vockley J	10767172	2000
4	[DMGDH gene-related dimethylglycine dehydrogenase deficiency in a case]. ⁶¹	Wang XL...Zhang GY	28881522	2017
5	Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant. ⁶¹	Augustin P...Macheroux P	27486859	2016
6	Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. ⁶¹	McAndrew RP...Kim JJ	18937046	2008

Sources

Genes for Dimethylglycine Dehydrogenase Deficiency

Genes related to Dimethylglycine Dehydrogenase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DMGDH	Dimethylglycine Dehydrogenase	Protein Coding	1276.52	Molecular basis known ⁵⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Publications Summaries Variants (show sections)
2	SARDH	Sarcosine Dehydrogenase	Protein Coding	6.65	GeneCards inferred via : Publications (show sections)

Sources

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

Sources

Expression for Dimethylglycine Dehydrogenase Deficiency

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

Sources

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

Pathways related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glycerophospholipid biosynthesis ⁶⁵ Show member pathways Acyl chain remodeling of CL ⁶⁵ Acyl chain remodeling of DAG and TAG ⁶⁵ Acyl chain remodelling of PG ⁶⁵ Acyl chain remodelling of PI ⁶⁵ Choline catabolism ⁶⁵ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁶ Hydrolysis of LPC ⁶⁵ Hydrolysis of LPE ⁶⁵ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁵ Phosphonate and phosphinate metabolism ³⁶ Synthesis of CL ⁶⁵ Synthesis of PE ⁶⁵ Synthesis of PG ⁶⁵ Synthesis of PI ⁶⁵ Synthesis of PS ⁶⁵	11.69	SARDH DMGDH
2	Glycine, serine and threonine metabolism ³⁶ Show member pathways glycine betaine degradation ¹ superpathway of choline degradation to L-serine ¹	10.34	SARDH DMGDH

Sources

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

Sources for Dimethylglycine Dehydrogenase Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Dimethylglycine Dehydrogenase Deficiency (DMGDHD)

Aliases & Classifications for Dimethylglycine Dehydrogenase Deficiency

MalaCards integrated aliases for Dimethylglycine Dehydrogenase Deficiency:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Dimethylglycine Dehydrogenase Deficiency

Related Diseases for Dimethylglycine Dehydrogenase Deficiency

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

Symptoms & Phenotypes for Dimethylglycine Dehydrogenase Deficiency

Human phenotypes related to Dimethylglycine Dehydrogenase Deficiency:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Dimethylglycine Dehydrogenase Deficiency:

Drugs & Therapeutics for Dimethylglycine Dehydrogenase Deficiency

Genetic Tests for Dimethylglycine Dehydrogenase Deficiency

Genetic tests related to Dimethylglycine Dehydrogenase Deficiency:

Anatomical Context for Dimethylglycine Dehydrogenase Deficiency

Publications for Dimethylglycine Dehydrogenase Deficiency

Articles related to Dimethylglycine Dehydrogenase Deficiency:

Genes for Dimethylglycine Dehydrogenase Deficiency

Genes related to Dimethylglycine Dehydrogenase Deficiency (1 elite genes):

Variations for Dimethylglycine Dehydrogenase Deficiency

ClinVar genetic disease variations for Dimethylglycine Dehydrogenase Deficiency:

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

Expression for Dimethylglycine Dehydrogenase Deficiency

Pathways for Dimethylglycine Dehydrogenase Deficiency

Pathways related to Dimethylglycine Dehydrogenase Deficiency according to KEGG:

Pathways related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

GO Terms for Dimethylglycine Dehydrogenase Deficiency

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

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

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

Sources for Dimethylglycine Dehydrogenase Deficiency