MCID: HMC033
MIFTS: 14

Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type malady

Genetic diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Rare diseases categories
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Summaries for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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47OMIM, 33MalaCards
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MalaCards: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type, is also known as functional methionine synthase deficiency type cblg An important gene associated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type is MTR (5-methyltetrahydrofolate-homocysteine methyltransferase).

Description from OMIM:47 250940

Aliases & Classifications for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
functional methionine synthase deficiency type cblg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

homocystinuria-megaloblastic anemia, cblg complementation type 47
functional methionine synthase deficiency type cblg 49
methylcobalamin deficiency type cblg 49


External Ids:

OMIM47 250940
ICD10 via Orphanet26 E72.1

Related Diseases for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Symptoms for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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47OMIM
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Symptoms by clinical synopsis from OMIM:

250940

Clinical features from OMIM:

250940

Drugs & Therapeutics for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Anatomical Context for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Animal Models for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type or affiliated genes

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Publications for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

64
id Symbol AA change Variation ID SNP ID
1MTRp.His920AspVAR_004330rs28933097
2MTRp.Pro1173LeuVAR_004331

Clinvar genetic disease variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1MTRNM_000254.2(MTR): c.3518C> T (p.Pro1173Leu)single nucleotide variantPathogenicrs121913578GRCh37Chr 1, 237058770: 237058770
2MTRMTR, 3-BP DEL, NT2926deletionPathogenic
3MTRNM_000254.2(MTR): c.2758C> G (p.His920Asp)single nucleotide variantPathogenicrs121913579GRCh37Chr 1, 237048502: 237048502
4MTRMTR, IVS3AS, A-G, -166single nucleotide variantPathogenic
5MTRMTR, 2-BP DEL, 2112TCdeletionPathogenic
6MTRMTR, IVS6AS, G-A, LYS203single nucleotide variantPathogenic
7MTRMTR, 1-BP INS, 3378AinsertionPathogenic
8MTRNM_000254.2(MTR): c.1753C> T (p.Arg585Ter)single nucleotide variantPathogenicrs121913580GRCh37Chr 1, 237015878: 237015878
9MTRNM_000254.2(MTR): c.3613G> T (p.Glu1205Ter)single nucleotide variantPathogenicrs121913581GRCh37Chr 1, 237060320: 237060320
10MTRNM_000254.2(MTR): c.1228G> C (p.Ala410Pro)single nucleotide variantPathogenicrs121913582GRCh37Chr 1, 236998886: 236998886

Expression for genes affiliated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Pathways for genes affiliated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Compounds for genes affiliated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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GO Terms for genes affiliated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Products for genes affiliated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet