MCID: HMC033
MIFTS: 28

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:
49OMIM, 67UniProtKB/Swiss-Prot, 33MalaCards, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 49 67
Methylcobalamin Deficiency Type Cblg 51 24
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type 33
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cblg Complementation Type 67
Functional Methionine Synthase Deficiency Type Cblg 51
 
Methylcobalamin Deficiency, Cblg Type 11
Methylcobalamin Deficiency Cbl G Type 45
Methylcobalamin Deficiency Cblg Type 67
Methionine Synthase Deficiency 67
Hmag 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
methylcobalamin deficiency type cblg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM49 250940
Orphanet51 2170
ICD10 via Orphanet28 E72.1
MedGen34 C1855128
MeSH36 D008661

Summaries for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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OMIM:49 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, also known as methylcobalamin deficiency type cblg, is related to cblg and noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 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).

UniProtKB/Swiss-Prot:67 Homocystinuria-megaloblastic anemia, cblG complementation type: An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.

Related Diseases for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Diseases related to Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cblg10.8
2noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia10.2
3pulmonary hypertension10.2
4megaloblastic anemia10.2
5hyperhomocysteinemia10.2
6homocystinuria10.2
7arakawa's syndrome 210.2
8homocystinuria without methylmalonic aciduria10.2
9methylcobalamin deficiency type cbldv110.2

Graphical network of diseases related to Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:



Diseases related to homocystinuria-megaloblastic anemia, cblg complementation type

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 19)
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 muscular hypotonia HP:0001252
7 global developmental delay HP:0001263
8 gait disturbance HP:0001288
9 failure to thrive HP:0001508
10 megaloblastic anemia HP:0001889
11 cerebral atrophy HP:0002059
12 homocystinuria HP:0002156
13 hyperhomocystinemia HP:0002160
14 poor coordination HP:0002370
15 decreased methylcobalamin HP:0003223
16 decreased methionine synthase activity HP:0003524
17 infantile onset HP:0003593
18 hypomethioninemia HP:0003658
19 feeding difficulties in infancy HP:0008872

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Type24

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:

67
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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1MTRNM_000254.2(MTR): c.3518C> T (p.Pro1173Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121913578GRCh37Chr 1, 237058770: 237058770
2MTRNM_000254.2(MTR): c.2640_2642delAAT (p.Ile881del)deletionPathogenicrs797044443GRCh37Chr 1, 237044100: 237044102
3MTRNM_000254.2(MTR): c.2758C> G (p.His920Asp)single nucleotide variantPathogenicrs121913579GRCh37Chr 1, 237048502: 237048502
4MTRMTR, IVS3AS, A-G, -166single nucleotide variantPathogenic
5MTRNM_000254.2(MTR): c.2114_2115delTC (p.Leu705Glnfs)deletionPathogenicrs797044444GRCh37Chr 1, 237024495: 237024496
6MTRMTR, IVS6AS, G-A, LYS203single nucleotide variantPathogenic
7MTRNM_000254.2(MTR): c.3380dupA (p.Ala1128Glyfs)duplicationPathogenicrs797044445GRCh37Chr 1, 237057832: 237057832
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
11MTRNM_000254.2(MTR): c.2669_2670delTG (p.Val890Glyfs)deletionPathogenicrs794727395GRCh37Chr 1, 237044129: 237044130

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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet