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

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

Name: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 49 45 67
Methylcobalamin Deficiency, Cblg Type 11 22 65
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type 33 22
Methylcobalamin Deficiency Cblg Type 67 24
Methionine Synthase Deficiency 45 67
Cblg 45 22
 
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cblg Complementation Type 67
Functional Methionine Synthase Deficiency Type Cblg 51
Methylcobalamin Deficiency Cbl G Type 45
Methylcobalamin Deficiency Type Cblg 51
Arakawa Syndrome 2 65
Hmag 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
homocystinuria-megaloblastic anemia, cblg complementation type:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 250940
Orphanet51 2170
ICD10 via Orphanet28 E72.1
MedGen34 C1855128
MeSH36 D008661
UMLS65 C0268611, C1855128

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, cblg type, is related to methylmalonic aciduria and homocystinuria type cblg and noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, and has symptoms including nystagmus, blindness and feeding difficulties in infancy. An important gene associated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase). Affiliated tissues include t cells.

NIH Rare Diseases:45 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: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
1methylmalonic aciduria and homocystinuria type cblg11.9
2noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia11.1
3homocystinuria without methylmalonic aciduria11.1
4methylcobalamin deficiency type cbldv111.1
5homocystinuria-megaloblastic anemia, cbl e type10.2
6hyperhomocysteinemia10.0
7pulmonary hypertension9.8
8megaloblastic anemia9.8
9homocystinuria9.8

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 17)
id Description Frequency HPO Source Accession
1 nystagmus rare (5%) HP:0000639
2 blindness rare (5%) HP:0000618
3 feeding difficulties in infancy HP:0008872
4 hypomethioninemia HP:0003658
5 decreased methionine synthase activity HP:0003524
6 decreased methylcobalamin HP:0003223
7 poor coordination HP:0002370
8 hyperhomocystinemia HP:0002160
9 homocystinuria HP:0002156
10 cerebral atrophy HP:0002059
11 megaloblastic anemia HP:0001889
12 failure to thrive HP:0001508
13 gait disturbance HP:0001288
14 global developmental delay HP:0001263
15 muscular hypotonia HP:0001252
16 seizures HP:0001250
17 intellectual disability HP:0001249

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


seizures

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 Cblg22 MTR

Anatomical Context for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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MalaCards organs/tissues related to Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

33
T cells

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