MCID: HMC015
MIFTS: 21

Homocysteinemia Due to Mthfr Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Homocysteinemia Due to Mthfr Deficiency

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Sources:
61UMLS, 42NIH Rare Diseases, 22GTR, 48Orphanet, 20GeneTests, 44Novoseek, 26ICD10 via Orphanet
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Aliases & Descriptions for Homocysteinemia Due to Mthfr Deficiency:

Name: Homocysteinemia Due to Mthfr Deficiency 42 22
Mthfr Deficiency 42 20 48
Homocystinuria Due to Methylene Tetrahydrofolate Reductase Deficiency 42 48
Methylene Tetrahydrofolate Reductase Deficiency 42 48
Methylenetetrahydrofolate Reductase Deficiency 44 61
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 61
 
Homocysteinemia Due to Methylenetetrahydro-Folate Reductase Deficiency 42
Homocysteinuria Due to Methylenetetrahydro-Folate Reductase Deficiency 42
5,10-Alpha-Methylenetetrahydro-Folate Reductase Deficiency 42
5,10 Alpha Methylenetetrahydro-Folate Reductase Deficiency 42
Methylenetetrahydro-Folate Reductase Deficiency 42
Homocysteinuria Due to Mthfr Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
mthfr deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet48 395
ICD10 via Orphanet26 E72.1

Summaries for Homocysteinemia Due to Mthfr Deficiency

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NIH Rare Diseases:42 Homocysteinemia due to mthfr deficiency is a metabolic condition characterized by neurological problems, such as developmental delay, seizures, and microcephaly. signs and symptoms of vary from no symptoms to severe neurologic and blood vessel disease. it is inherited in an autosomal recessive fashion and is caused by mutations in the mthfr gene . these mutations may cause a mild to severe loss of activity of the mthfr enzyme and result in elevated levels of homocysteine in the blood (homocysteinemia) or urine (homocysteinuria). the most common mthfr gene mutation is the c677t mutation. health problems tend not to be related to whether someone has a mthfr gene mutation or even a mthfr enzyme deficiency, but whether the deficiency is leading to elevated levels of homocysteine in the blood (homocysteinemia) or urine. last updated: 7/20/2011

MalaCards based summary: Homocysteinemia Due to Mthfr Deficiency, also known as mthfr deficiency, is related to homocystinuria due to mthfr deficiency and angelman syndrome. An important gene associated with Homocysteinemia Due to Mthfr Deficiency is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)).

Related Diseases for Homocysteinemia Due to Mthfr Deficiency

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Diseases related to Homocysteinemia Due to Mthfr Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1homocystinuria due to mthfr deficiency10.4
2angelman syndrome10.2
3hypertriglyceridemia10.2
4breast reconstruction10.2
5paraplegia10.2
6pulmonary embolism10.2
7malaria10.0
8homocystinuria10.0
9hyperhomocysteinemia10.0
10cerebritis10.0
11neuropathy10.0
12peripheral neuropathy10.0
13retinitis10.0
14mthfr thermolabile variant10.0
15cytomegalovirus infection10.0
16endotheliitis10.0

Graphical network of diseases related to Homocysteinemia Due to Mthfr Deficiency:



Diseases related to homocysteinemia due to mthfr deficiency

Symptoms for Homocysteinemia Due to Mthfr Deficiency

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Drugs & Therapeutics for Homocysteinemia Due to Mthfr Deficiency

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Drug clinical trials:

Search ClinicalTrials for Homocysteinemia Due to Mthfr Deficiency

Search NIH Clinical Center for Homocysteinemia Due to Mthfr Deficiency

Genetic Tests for Homocysteinemia Due to Mthfr Deficiency

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Genetic tests related to Homocysteinemia Due to Mthfr Deficiency:

id Genetic test Affiliating Genes
1 Mthfr Deficiency20 MTHFR
2 Homocysteinemia Due to Mthfr Deficiency22

Anatomical Context for Homocysteinemia Due to Mthfr Deficiency

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Animal Models for Homocysteinemia Due to Mthfr Deficiency or affiliated genes

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Publications for Homocysteinemia Due to Mthfr Deficiency

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Variations for Homocysteinemia Due to Mthfr Deficiency

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Clinvar genetic disease variations for Homocysteinemia Due to Mthfr Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MTHFRNM_005957.4(MTHFR): c.1743G> A (p.Met581Ile)single nucleotide variantPathogenicrs45590836GRCh37Chr 1, 11851273: 11851273

Expression for genes affiliated with Homocysteinemia Due to Mthfr Deficiency

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Search GEO for disease gene expression data for Homocysteinemia Due to Mthfr Deficiency.

Pathways for genes affiliated with Homocysteinemia Due to Mthfr Deficiency

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Compounds for genes affiliated with Homocysteinemia Due to Mthfr Deficiency

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GO Terms for genes affiliated with Homocysteinemia Due to Mthfr Deficiency

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Sources for Homocysteinemia Due to Mthfr Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet