MCID: HMC033
MIFTS: 26

Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Metabolic diseases, Blood diseases

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

About this section

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

Name: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 50 46 68
Methylcobalamin Deficiency, Cblg Type 23 12 66
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type 34 23
Methylcobalamin Deficiency Cblg Type 68 25
Methionine Synthase Deficiency 46 68
Cblg 46 23
 
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cblg Complementation Type 68
Functional Methionine Synthase Deficiency Type Cblg 52
Methylcobalamin Deficiency Cbl G Type 46
Methylcobalamin Deficiency Type Cblg 52
Arakawa Syndrome 2 66
Hmag 68

Characteristics:

Orphanet epidemiological data:

52
functional methionine synthase deficiency type cblg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

62
homocystinuria-megaloblastic anemia, cblg complementation type:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 250940
Orphanet52 ORPHA2170
ICD10 via Orphanet29 E72.1
MedGen35 C1855128
MeSH37 D008661

Summaries for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

About this section
OMIM:50 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, cblg type, is related to methylmalonic aciduria and homocystinuria type cblg and methylmalonic aciduria and homocystinuria, cbld type, and has symptoms including blindness, nystagmus and intellectual disability. An important gene associated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase).

NIH Rare Diseases:46 Methylcobalamin deficiency cbl g type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. in most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. methylcobalamin deficiency cbl g type is caused by changes (mutations) in the mtr gene and is inherited in an autosomal recessive manner. treatment generally includes regular doses of hydroxycobalamin (vitamin b12). some affected people may also require supplementation with folates and betaine. last updated: 12/3/2015

UniProtKB/Swiss-Prot:68 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria type cblg11.9
2methylmalonic aciduria and homocystinuria, cbld type11.1
3homocystinuria-megaloblastic anemia, cbl e type10.2
4hyperhomocysteinemia10.0

Symptoms for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

About this section

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 intellectual disability HP:0001249
4 seizures HP:0001250
5 muscular hypotonia HP:0001252
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 decreased methionine synthase activity HP:0003524
16 hypomethioninemia HP:0003658
17 feeding difficulties in infancy HP:0008872

UMLS symptoms related to Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:


seizures

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

About this section

Interventional clinical trials:

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

Genetic Tests for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

About this section

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

id Genetic test Affiliating Genes
1 Methylcobalamin Deficiency, Cblg Type25
2 Cblg23 MTR

Anatomical Context for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

About this section

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

About this section

Publications for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

About this section

Variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

About this section

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

68
id Symbol AA change Variation ID SNP ID
1MTRp.His920AspVAR_004330rs28933097
2MTRp.Pro1173LeuVAR_004331rs121913578

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

About this section
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

About this section

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

About this section

Sources for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet