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

Summaries for Sarcosinemia

Sources:
³CDC, ⁶³Wikipedia, ⁴⁶OMIM, ³²MalaCards
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Wikipedia:⁶³ Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

MalaCards: Sarcosinemia, also known as sarcosin dehydrogenase complex, deficiency of, is related to severe acute respiratory syndrome and pneumonia. An important gene associated with Sarcosinemia is SARDH (sarcosine dehydrogenase), and among its related pathways are Pyruvate metabolism and glycine betaine degradation. The compounds dimethylglycine and sarcosine have been mentioned in the context of this disorder.

CDC:³ Remembering the 2003 global SARS outbreak...More

Description from OMIM:⁴⁶ 268900

Aliases & Classifications for Sarcosinemia

Sources:
⁴²NIH Rare Diseases, ²⁰GeneTests, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁴⁶OMIM, ⁶⁰UMLS, ³⁵MESH via Orphanet, ²⁶ICD10 via Orphanet, ⁵⁷SNOMED-CT via Orphanet, ⁶¹UMLS via Orphanet
See all sources

Classifications:

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

ICD10: ²⁶

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of glycine metabolism

Characteristics (Orphanet epidemiological data):

⁴⁸

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

Aliases & Descriptions:

sarcosinemia ⁴² ²⁰ ⁴⁴ ⁴⁸ ⁴⁶ ⁶⁰

sarcosin dehydrogenase complex, deficiency of ⁴²

sarcosine dehydrogenase complex deficiency ⁴⁸

hypersarcosinemia ⁴²

sardh deficiency ⁴²

sar deficiency ⁴²

sar ⁴²

External Ids:

OMIM⁴⁶ 268900

MESH via Orphanet³⁵ C537236

ICD10 via Orphanet²⁶ E72.5

SNOMED-CT via Orphanet⁵⁷ 64852002

UMLS via Orphanet⁶¹ C0268563

Related Diseases for Sarcosinemia

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 63)

id	Related Disease	Score	Top Affiliating Genes
1	severe acute respiratory syndrome	10.9
2	pneumonia	10.3
3	n syndrome	10.3
4	influenza	10.3
5	lymphopenia	10.3
6	osteonecrosis	10.2
7	hyperuricemia	10.1
8	alcohol abuse	10.0
9	actinic keratosis	10.0
10	monkeypox	10.0
11	avian influenza	10.0
12	neurogenic bladder	10.0
13	viral pneumonia	10.0
14	diabetic macular edema	10.0
15	appendicitis	10.0
16	tonsillitis	10.0
17	adult syndrome	10.0
18	down syndrome	10.0
19	acute orbital inflammation	10.0
20	hypertension	10.0
21	keratosis	10.0
22	malaria	10.0
23	melanoma	10.0
24	myositis	10.0
25	prostatitis	10.0
26	skin melanoma	10.0
27	thyroiditis	10.0
28	sars, progression of	10.0
29	sars infection, protection against	10.0
30	dimethylglycine dehydrogenase deficiency	10.0	DMGDH
31	tick-borne relapsing fever	9.9
32	parametritis	9.9
33	hepatitis c	9.9
34	sleeping sickness	9.9
35	vaccinia	9.9
36	huntington's disease	9.9
37	keratoconjunctivitis sicca	9.9
38	glanders	9.9
39	cerebritis	9.9
40	murray valley encephalitis	9.9
41	orchitis	9.9
42	duchenne muscular dystrophy	9.9
43	alzheimer's disease	9.9
44	post-traumatic stress disorder	9.9
45	pneumonic plague	9.9
46	alcohol dependence	9.9
47	adenocarcinoma	9.9
48	allergic contact dermatitis	9.9
49	contact dermatitis	9.9
50	dermatitis	9.9

Graphical network of the top 20 diseases related to Sarcosinemia:

Clinical Features for Sarcosinemia

Sources:
⁴⁶OMIM
See all sources

Clinical features from OMIM:

268900

Clinical synopsis from OMIM:

268900

Drugs & Therapeutics for Sarcosinemia

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Sarcosinemia

Drug clinical trials:

Search ClinicalTrials for Sarcosinemia

Search NIH Clinical Center for Sarcosinemia

Search CenterWatch for Sarcosinemia

Genetic Tests for Sarcosinemia

Sources:
²⁰GeneTests
See all sources

Genetic tests related to Sarcosinemia:

id	Genetic test	Affiliating Genes
1	Sarcosinemia²⁰	SARDH

Anatomical Context for Sarcosinemia

Animal Models for Sarcosinemia or affiliated genes

Publications for Sarcosinemia

Genes related to Sarcosinemia

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
See all sources

Genes related to Sarcosinemia:

id	Symbol	Description	Score	Implication
1	SARDH	sarcosine dehydrogenase	22.39	Causative germline mutation ⁴⁸ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Disorders, Summaries (show sections)
2	PDP1	pyruvate dehyrogenase phosphatase catalytic subunit 1	17.96	GeneCards inferred : Publications, Disorders (show sections)
3	DMGDH	dimethylglycine dehydrogenase	13.96	GeneCards inferred : Publications, Disorders (show sections)
4	ENSG00000214331		9.98	GeneCards inferred : Disorders (show sections)
5	PDPR	pyruvate dehydrogenase phosphatase regulatory subunit	5.96	GeneCards inferred : Disorders (show sections)

Products for genes related to Sarcosinemia disease:

id	Company	Antibodies	Proteins	Lysates
1	Novus Biologicals	3	2	2
2	LSBio	5	-	-

Genetic Variations for Sarcosinemia

Sources:
⁶²UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Sarcosinemia:

⁶²

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

Expression for genes affiliated with Sarcosinemia

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

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:
⁵³Reactome, ³⁷NCBI BioSystems Database, ²⁹KEGG
See all sources

Pathways related to Sarcosinemia according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Pyruvate metabolism⁵³ Hide members Pyruvate metabolism and Citric Acid (TCA) cycle⁵³ Regulation of pyruvate dehydrogenase (PDH) complex⁵³	9.4	PDPR, PDP1
2	glycine betaine degradation³⁷	9.4	DMGDH, SARDH
3	Glycine, serine and threonine metabolism²⁹	9.4	SARDH, DMGDH
4	Metabolism⁵³ Hide members Metabolic pathways²⁹	8.4	PDP1, PDPR, DMGDH, SARDH

Compounds for genes affiliated with Sarcosinemia

Sources:
⁴⁴Novoseek, ²⁴HMDB, ²⁸IUPHAR, ¹¹DrugBank
See all sources

Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	dimethylglycine⁴⁴ ²⁴	10.5	SARDH, DMGDH
2	sarcosine⁴⁴ ²⁴	10.4	DMGDH, SARDH
3	folate⁴⁴	9.4	SARDH, DMGDH
4	acyl-coa⁴⁴	9.2	PDP1, DMGDH
5	formaldehyde⁴⁴ ²⁴	10.1	SARDH, DMGDH
6	n1-acetylspermine⁴⁴ ²⁴	10.1	DMGDH, SARDH, PDPR
7	putrescine⁴⁴ ²⁸ ¹¹ ²⁴	12.1	PDPR, SARDH, DMGDH
8	spermidine⁴⁴ ²⁸ ¹¹ ²⁴	12.0	DMGDH, SARDH, PDPR
9	spermine⁴⁴ ²⁸ ¹¹ ²⁴	12.0	PDPR, DMGDH, SARDH

GO Terms for genes affiliated with Sarcosinemia

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Sarcosinemia according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:005759	8.4	DMGDH, PDPR, PDP1, SARDH

Biological processes related to Sarcosinemia according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular metabolic process	GO:044237	9.4	PDPR, PDP1
2	regulation of acetyl-CoA biosynthetic process from pyruvate	GO:010510	9.3	PDPR, PDP1
3	pyruvate metabolic process	GO:006090	9.1	PDPR, PDP1
4	glycine catabolic process	GO:006546	8.9	DMGDH, PDPR, SARDH

Molecular functions related to Sarcosinemia according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	aminomethyltransferase activity	GO:004047	8.9	DMGDH, PDPR, SARDH

Products for genes affiliated with Sarcosinemia

Antibodies
Proteins
Lysates

Antibodies

Sources for Sarcosinemia

¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

²⁹KEGG

³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

SAR MCID: SRC015 MIFTS: 36	Sarcosinemia (SAR) malady Metabolic diseases category
1 symptom, 5 genes, 63 related diseases, clinical trials, genetic tests.

Sarcosinemia (SAR) malady