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 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

Inheritance:
autosomal recessive

Miscellaneous:
fishy body odor

HPO:

³³

dimethylglycine dehydrogenase deficiency:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of glycine metabolism

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

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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. Related phenotypes are abnormal enzyme/coenzyme activity and increased muscle fatiguability

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	31.2	DMGDH SARDH
2	polycystic kidney disease	10.4

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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

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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 ³⁰	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	1287.26	Molecular basis known ⁵⁸ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Publications Summaries Variants (show sections)
2	SARDH	Sarcosine Dehydrogenase	Protein Coding	17.17	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:

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

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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:

³⁸

#	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 ⁶⁷ Show member pathways Acyl chain remodeling of CL ⁶⁷ Acyl chain remodeling of DAG and TAG ⁶⁷ Acyl chain remodelling of PG ⁶⁷ Acyl chain remodelling of PI ⁶⁷ Choline catabolism ⁶⁷ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁸ Hydrolysis of LPC ⁶⁷ Hydrolysis of LPE ⁶⁷ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁷ Phosphonate and phosphinate metabolism ³⁸ Synthesis of CL ⁶⁷ Synthesis of PE ⁶⁷ Synthesis of PG ⁶⁷ Synthesis of PI ⁶⁷ Synthesis of PS ⁶⁷	11.69	DMGDH SARDH
2	Glycine, serine and threonine metabolism ³⁸ 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	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

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Sources for Dimethylglycine Dehydrogenase Deficiency

¹ BioSystems

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³⁸ KEGG

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⁴⁰ LncRNADisease

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⁴⁵ MeSH

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

ClinVar 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