Sarcosinemia disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Sarcosinemia

Sources:
⁴CDC, ⁴⁶OMIM, ⁶⁴Wikipedia, ³²MalaCards
See all sources

OMIM:⁴⁶ Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of...268900 more...

MalaCards based summary: Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to severe acute respiratory syndrome and pneumonia, and has symptoms including autosomal recessive inheritanceand hypersarcosinemia. An important gene associated with Sarcosinemia is SARDH (sarcosine dehydrogenase), and among its related pathways are Glycine, serine and threonine metabolism and Metabolism. The compounds dimethylglycine and sarcosine have been mentioned in the context of this disorder.

CDC:⁴ Remembering the 2003 global SARS outbreak...More

Wikipedia:⁶⁴ Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Aliases & Classifications for Sarcosinemia

Sources:
⁴²NIH Rare Diseases, ²¹GeneTests, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁴⁶OMIM, ⁶¹UMLS, ³⁵MESH via Orphanet, ²⁷ICD10 via Orphanet, ⁶²UMLS via Orphanet
See all sources

Sarcosinemia, Aliases & Descriptions:

Name: Sarcosinemia ⁴² ²¹ ⁴⁴ ⁴⁸ ⁴⁶ ⁶¹

Sarcosine Dehydrogenase Complex Deficiency ⁴⁸ ⁶¹

Sardh Deficiency ⁴² ⁶¹

Sarcosin Dehydrogenase Complex, Deficiency of ⁴²

Hypersarcosinaemia ⁶¹

Hypersarcosinemia ⁴²

Sar Deficiency ⁴²

Sar ⁴²

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases

ICD10: ²⁷

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of glycine metabolism

Orphanet: ⁴⁸

Inborn errors of metabolism

Characteristics (Orphanet epidemiological data):

⁴⁸

sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal

External Ids:

OMIM⁴⁶ 268900

MESH via Orphanet³⁵ C537236

ICD10 via Orphanet²⁷ E72.5

UMLS via Orphanet⁶² C0268563

Related Diseases for Sarcosinemia

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases related to Sarcosinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)

id	Related Disease	Score	Top Affiliating Genes
1	severe acute respiratory syndrome	11.0
2	pneumonia	10.4
3	influenza	10.3
4	lymphopenia	10.3
5	osteonecrosis	10.2
6	dimethylglycine dehydrogenase deficiency	10.2	DMGDH
7	alcohol abuse	10.1
8	diabetic macular edema	10.1
9	avian influenza	10.1
10	neurogenic bladder	10.1
11	actinic keratosis	10.1
12	viral pneumonia	10.1
13	monkeypox	10.1
14	acute orbital inflammation	10.1
15	keratosis	10.1
16	melanoma	10.1
17	sars, progression of	10.1
18	sars infection, protection against	10.1
19	alzheimer's disease	9.9
20	duchenne muscular dystrophy	9.9
21	hepatitis	9.9
22	hiv-1	9.9
23	huntington's disease	9.9
24	leukemia	9.9
25	lung adenocarcinoma	9.9
26	malaria	9.9
27	obesity	9.9
28	schizophrenia	9.9
29	thrombocytopenia	9.9
30	orchitis	9.9
31	post-traumatic stress disorder	9.9
32	hyperuricemia	9.9
33	gaucher's disease	9.9
34	hepatitis c	9.9
35	parametritis	9.9
36	glanders	9.9
37	tick-borne relapsing fever	9.9
38	sleeping sickness	9.9
39	keratoconjunctivitis sicca	9.9
40	murray valley encephalitis	9.9
41	pneumonic plague	9.9
42	vaccinia	9.9
43	adenocarcinoma	9.9
44	encephalitis	9.9
45	keratoconjunctivitis	9.9
46	muscular dystrophy	9.9
47	plague	9.9
48	relapsing fever	9.9
49	smallpox	9.9
50	virus associated hemophagocytic syndrome	9.9

Graphical network of the top 20 diseases related to Sarcosinemia:

Symptoms for Sarcosinemia

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

Symptoms by clinical synopsis from OMIM:

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Clinical features from OMIM:

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HPO human phenotypes related to Sarcosinemia:

id	Description	Frequency	HPO Source Accession
1	autosomal recessive inheritance		HP:0000007
2	hypersarcosinemia		HP:0010896

Drugs & Therapeutics for Sarcosinemia

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Sarcosinemia

Search NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

Sources:
²¹GeneTests
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Genetic tests related to Sarcosinemia:

id	Genetic test	Affiliating Genes
1	Sarcosinemia²¹	SARDH

Anatomical Context for Sarcosinemia

Animal Models for Sarcosinemia or affiliated genes

Publications for Sarcosinemia

Sources:
⁵¹PubMed
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Articles related to Sarcosinemia:

id	Title	Authors	Year
1	A young adult with sarcosinemia. No benefit from long duration treatment with memantine. (23430553)	Benarrosh A.... Bakchine S.	2013
2	Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. (22825317)	Bar-Joseph I.... Anikster Y.	2012
3	Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor. (17095900)	Deutsch S.I.... Mastropaolo J.	2006
4	Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34]. (10876657)	Xia J.H.... Dai H.P.	1999
5	Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. (10444331)	Eschenbrenner M.... Jorns M.S.	1999
6	The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34. (8812433)	Brunialti A.L.... GuAcnet J.L.	1996
7	sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis. (1372986)	Harding C.O.... Wolff J.A.	1992
8	Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. (6207480)	Levy H.L.... Benjamin R.	1984
9	A Spanish family with sarcosinemia. (4677036)	Hariga J.... Delava S.	1972
10	Clinical and cellular studies of sarcosinemia. (5504071)	Scott C.R.... Swedberg K.R.	1970

Genes related to Sarcosinemia

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁷Clinvar, ⁴⁸Orphanet, ⁶³UniProtKB/Swiss-Prot, ²¹GeneTests
See all sources

Genes related to Sarcosinemia:

- Elite gene

id	Symbol	Description	Score	Implication
1	SARDH	sarcosine dehydrogenase	23.99	Pathogenic ⁷ Causative germline mutation ⁴⁸ Causative variation ⁶³ Genetic Tests ²¹ GeneCards inferred via : Disorders, Publications, Summaries (show sections)
2	PDP1	pyruvate dehyrogenase phosphatase catalytic subunit 1	16.61	GeneCards inferred via : Publications (show sections)
3	DMGDH	dimethylglycine dehydrogenase	9.95	GeneCards inferred via : Publications (show sections)

Products for genes related to Sarcosinemia disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	2	-	3	3
2	Novus Biologicals	1	1	3	-

Variations for Sarcosinemia

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar, ⁸dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

⁶³

id	Symbol	AA change	Variation ID	SNP ID
1	SARDH	p.Val71Phe	VAR_069272
2	SARDH	p.Pro287Leu	VAR_069273	rs149481147

Clinvar genetic disease variations for Sarcosinemia:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	SARDH	NM_007101.3(SARDH): c.211G> T (p.Val71Phe)	single nucleotide variant	Pathogenic	rs397514504	GRCh37	Chr 9, 136599085: 136599085
2	SARDH	NM_007101.3(SARDH): c.860C> T (p.Pro287Leu)	single nucleotide variant	Pathogenic	rs149481147	GRCh37	Chr 9, 136594942: 136594942
3	SARDH	NM_007101.3(SARDH): c.2167C> T (p.Arg723Ter)	single nucleotide variant	Pathogenic	rs149391396	GRCh37	Chr 9, 136536816: 136536816
4	SARDH	NM_007101.3(SARDH): c.1540C> T (p.Arg514Ter)	single nucleotide variant	Pathogenic	rs140559739	GRCh37	Chr 9, 136570084: 136570084

Expression for genes affiliated with Sarcosinemia

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sarcosinemia

Search GEO for disease gene expression data for Sarcosinemia.

Pathways for genes affiliated with Sarcosinemia

Sources:
⁴⁹PathCards, ³⁰KEGG, ³⁷NCBI BioSystems Database, ⁵⁴Reactome
See all sources

Pathways related to Sarcosinemia according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Glycine, serine and threonine metabolism³⁰ Show member pathways choline degradation I³⁷ glycine biosynthesis III³⁷ serine and glycine biosynthesis³⁷ glycine betaine degradation³⁷ glycine biosynthesis³⁷	9.3	SARDH, DMGDH
2	Metabolism⁵⁴ Show member pathways Metabolic pathways³⁰ Metabolism of lipids and lipoproteins⁵⁴	8.5	PDP1, SARDH, DMGDH

Compounds for genes affiliated with Sarcosinemia

Sources:
⁴⁴Novoseek, ²⁵HMDB, ²⁹IUPHAR, ¹²DrugBank
See all sources

Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	dimethylglycine⁴⁴ ²⁵	10.6	DMGDH, SARDH
2	sarcosine⁴⁴ ²⁵	10.6	DMGDH, SARDH
3	Norspermidine²⁵	9.6	DMGDH, SARDH
4	n1-acetylspermine⁴⁴ ²⁵	10.6	SARDH, DMGDH
5	putrescine⁴⁴ ²⁹ ²⁵ ¹²	12.5	DMGDH, SARDH
6	spermidine⁴⁴ ²⁹ ²⁵ ¹²	12.5	SARDH, DMGDH
7	spermine²⁹ ⁴⁴ ²⁵ ¹²	12.4	DMGDH, SARDH
8	formaldehyde⁴⁴ ²⁵	10.3	DMGDH, SARDH
9	FAD²⁵	9.2	SARDH, DMGDH
10	acyl-coa⁴⁴	9.2	DMGDH, PDP1
11	folate⁴⁴	9.0	SARDH, DMGDH
12	lactate⁴⁴	9.0	SARDH, PDP1
13	Water²⁵	8.7	SARDH, DMGDH, PDP1