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 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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of glycine metabolism

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

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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

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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	30.2	DMGDH SARDH
2	polycystic kidney disease	10.2

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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

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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	Year
1	Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. ( 18937046 )	McAndrew R.P....Kim J.J.	2008
2	Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. ( 11231903 )	Binzak B.A....Vockley J.	2001

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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	PubmedIds
1	DMGDH	Dimethylglycine Dehydrogenase	Protein Coding	1287.27	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Publications Summaries Variants (show sections)
2	SARDH	Sarcosine Dehydrogenase	Protein Coding	17.25	GeneCards inferred via : Publications (show sections)

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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

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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:

³⁷

#	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 ⁶⁶ Show member pathways Acyl chain remodeling of CL ⁶⁶ Acyl chain remodeling of DAG and TAG ⁶⁶ Acyl chain remodelling of PG ⁶⁶ Acyl chain remodelling of PI ⁶⁶ Choline catabolism ⁶⁶ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁷ Hydrolysis of LPC ⁶⁶ Hydrolysis of LPE ⁶⁶ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁶ Phosphonate and phosphinate metabolism ³⁷ Synthesis of CL ⁶⁶ Synthesis of PE ⁶⁶ Synthesis of PG ⁶⁶ Synthesis of PI ⁶⁶ Synthesis of PS ⁶⁶	11.69	DMGDH SARDH
2	Glycine, serine and threonine metabolism ³⁷ Show member pathways glycine betaine degradation ¹ superpathway of choline degradation to L-serine ¹	10.34	DMGDH SARDH

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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	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

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Sources for Dimethylglycine Dehydrogenase Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

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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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia