MCID: HMC033
MIFTS: 17

Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type malady

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

Summaries for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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OMIM:46 Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in...250940 more...

MalaCards based summary: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type, is also known as functional methionine synthase deficiency type cblg, and has symptoms including blindness, nystagmus and autosomal recessive inheritance. An important gene associated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type is MTR (5-methyltetrahydrofolate-homocysteine methyltransferase).

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

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Sources:
46OMIM, 48Orphanet, 27ICD10 via Orphanet
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Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type, Aliases & Descriptions:

Name: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 46
Functional Methionine Synthase Deficiency Type Cblg 48
 
Methylcobalamin Deficiency Type Cblg 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
functional methionine synthase deficiency type cblg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 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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Symptoms by clinical synopsis from OMIM:

250940

Clinical features from OMIM:

250940

HPO human phenotypes related to Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

(show all 17)
id Description Frequency HPO Source Accession
1 blindness rare (5%) HP:0000618
2 nystagmus rare (5%) HP:0000639
3 autosomal recessive inheritance HP:0000007
4 intellectual disability HP:0001249
5 seizures HP:0001250
6 global developmental delay HP:0001263
7 gait disturbance HP:0001288
8 failure to thrive HP:0001508
9 megaloblastic anemia HP:0001889
10 cerebral atrophy HP:0002059
11 homocystinuria HP:0002156
12 hyperhomocystinemia HP:0002160
13 poor coordination HP:0002370
14 decreased methylcobalamin HP:0003223
15 infantile onset HP:0003593
16 hypomethioninemia HP:0003658
17 feeding difficulties in infancy HP:0008872

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

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Drug clinical trials:

Search ClinicalTrials for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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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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UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

63
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:

7
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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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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Sources for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet