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

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Aliases & Classifications for Dimethylglycine Dehydrogenase Deficiency

MalaCards integrated aliases for Dimethylglycine Dehydrogenase Deficiency:

Name: Dimethylglycine Dehydrogenase Deficiency ⁵⁷ ⁵⁸ ³⁶ ²⁹ ¹³ ⁶ ⁷⁰

Dmgdh Deficiency ⁵⁷ ⁵⁸ ⁷²

Dmgdhd ⁵⁷ ⁷²

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®:

⁵⁷ (Updated 20-May-2021)

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
Anatomical: Muscle 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® ⁵⁷ 605850

KEGG ³⁶ H01003

ICD10 via Orphanet ³³ E72.5

UMLS via Orphanet ⁷¹ C1853892

Orphanet ⁵⁸ ORPHA243343

MedGen ⁴¹ C1853892

SNOMED-CT via HPO ⁶⁸ 258211005 80449002

UMLS ⁷⁰ C1853892

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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 sarcosinemia and glycine n-methyltransferase deficiency, 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 : ⁷² 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

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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	9.6	SARDH DMGDH
2	glycine n-methyltransferase deficiency	9.5	SARDH DMGDH

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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®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

UMLS symptoms related to Dimethylglycine Dehydrogenase Deficiency:

fishy body odor

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Drugs & Therapeutics for Dimethylglycine Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Dimethylglycine Dehydrogenase Deficiency

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Genetic Tests for Dimethylglycine Dehydrogenase Deficiency

Genetic tests related to Dimethylglycine Dehydrogenase Deficiency:

#	Genetic test	Affiliating Genes
1	Dimethylglycine Dehydrogenase Deficiency ²⁹	DMGDH

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Anatomical Context for Dimethylglycine Dehydrogenase Deficiency

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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 ⁵⁷	Moolenaar SH...Wevers RA	10102904	1999
2	Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. ⁶¹ ⁶	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

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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	PubMed IDs
1	DMGDH	Dimethylglycine Dehydrogenase	Protein Coding	1677.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Publications Summaries Variants (show sections)	10102904 10767172 11231903
2	SARDH	Sarcosine Dehydrogenase	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)

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Variations for Dimethylglycine Dehydrogenase Deficiency

ClinVar genetic disease variations for Dimethylglycine Dehydrogenase Deficiency:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DMGDH	NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter)	SNV	Pathogenic	781998	rs139044238	GRCh37: 5:78340149-78340149 GRCh38: 5:79044326-79044326
2	DMGDH	NM_013391.3(DMGDH):c.901C>T (p.Arg301Ter)	SNV	Pathogenic	998308		GRCh37: 5:78340220-78340220 GRCh38: 5:79044397-79044397
3	DMGDH	NM_013391.3(DMGDH):c.1030C>T (p.Arg344Ter)	SNV	Pathogenic	1030285		GRCh37: 5:78338269-78338269 GRCh38: 5:79042446-79042446
4	DMGDH	NM_013391.3(DMGDH):c.1223_1229dup (p.Tyr410Ter)	Duplication	Pathogenic	1030286		GRCh37: 5:78329195-78329196 GRCh38: 5:79033372-79033373
5	DMGDH	NM_013391.3(DMGDH):c.326A>G (p.His109Arg)	SNV	Pathogenic	4742	rs121908331	GRCh37: 5:78351682-78351682 GRCh38: 5:79055859-79055859
6	DMGDH	NM_013391.3(DMGDH):c.856C>T (p.Arg286Ter)	SNV	Uncertain significance	225340	rs200216040	GRCh37: 5:78340265-78340265 GRCh38: 5:79044442-79044442
7	DMGDH	NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn)	SNV	Uncertain significance	548521	rs745629468	GRCh37: 5:78322315-78322315 GRCh38: 5:79026492-79026492

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

⁷²

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

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Expression for Dimethylglycine Dehydrogenase Deficiency

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

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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

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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

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Sources for Dimethylglycine Dehydrogenase Deficiency

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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