MCID: HMC033
MIFTS: 21

Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type malady

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

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

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Sources:
46OMIM, 31MalaCards, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

Name: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 46
Methylcobalamin Deficiency Type Cblg 42 48 22
Functional Methionine Synthase Deficiency Type Cblg 42 48
 
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type 31
Methylcobalamin Deficiency Cbl G Type 42
Methylcobalamin Deficiency, Cblg Type 9


Classifications:



Characteristics (Orphanet epidemiological data):

48
methylcobalamin deficiency type cblg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM46 250940
Orphanet48 2170
ICD10 via Orphanet26 E72.1

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 methylcobalamin 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).

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

Search NIH Clinical Center for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

Genetic Tests for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Genetic tests related to Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

id Genetic test Affiliating Genes
1 Methylcobalamin Deficiency, Cblg Type22

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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type.

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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Sources for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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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