MCID: HMC033
MIFTS: 14

Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type malady

Genetic diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Rare diseases categories

Summaries for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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48OMIM, 34MalaCards
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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:48 250940

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

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48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
functional methionine synthase deficiency type cblg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

homocystinuria-megaloblastic anemia, cblg complementation type 48
functional methionine synthase deficiency type cblg 50
methylcobalamin deficiency type cblg 50


External Ids:

OMIM48 250940
ICD10 via Orphanet27 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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet