HMAG
MCID: HMC033
MIFTS: 26

Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type (HMAG) 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 52 48 70
Methylcobalamin Deficiency, Cblg Type 24 12 68
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type 36 24
Methylcobalamin Deficiency Cblg Type 70 27
Methionine Synthase Deficiency 48 70
Cblg 48 24
 
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cblg Complementation Type 70
Functional Methionine Synthase Deficiency Type Cblg 54
Methylcobalamin Deficiency Cbl G Type 48
Methylcobalamin Deficiency Type Cblg 54
Arakawa Syndrome 2 68
Hmag 70

Characteristics:

Orphanet epidemiological data:

54
functional methionine synthase deficiency type cblg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

64
homocystinuria-megaloblastic anemia, cblg complementation type:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 250940
Orphanet54 ORPHA2170
ICD10 via Orphanet31 E72.1
MedGen37 C1855128
MeSH39 D008661

Summaries for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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OMIM:52 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 homocystinuria-megaloblastic anemia, cbl e type, and has symptoms including seizures, seizures and blindness. An important gene associated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase).

NIH Rare Diseases:48 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:70 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 cblg11.8
2homocystinuria-megaloblastic anemia, cbl e type11.1
3methylmalonic aciduria and homocystinuria, cbld type11.0
4hyperhomocysteinemia9.8
5mthfr deficiency9.8
6cblf9.8

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



Diseases related to homocystinuria-megaloblastic anemia, cblg complementation type

Symptoms & Phenotypes for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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Symptoms by clinical synopsis from OMIM:

250940

Clinical features from OMIM:

250940

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

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 blindness64 HP:0000618
2 nystagmus64 HP:0000639
3 intellectual disability64 HP:0001249
4 seizures64 HP:0001250
5 muscular hypotonia64 HP:0001252
6 global developmental delay64 HP:0001263
7 gait disturbance64 HP:0001288
8 failure to thrive64 HP:0001508
9 megaloblastic anemia64 HP:0001889
10 cerebral atrophy64 HP:0002059
11 homocystinuria64 HP:0002156
12 hyperhomocystinemia64 HP:0002160
13 poor coordination64 HP:0002370
14 decreased methylcobalamin64 HP:0003223
15 decreased methionine synthase activity64 HP:0003524
16 hypomethioninemia64 HP:0003658
17 feeding difficulties in infancy64 HP:0008872

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 Methylcobalamin Deficiency, Cblg Type27
2 Cblg24 MTR

Anatomical Context for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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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:

70
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)SNVPathogenic/ Likely 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)SNVPathogenicrs121913579GRCh37Chr 1, 237048502: 237048502
4MTRMTR, IVS3AS, A-G, -166SNVPathogenic
5MTRNM_ 000254.2(MTR): c.2114_ 2115delTC (p.Leu705Glnfs)deletionPathogenicrs797044444GRCh37Chr 1, 237024495: 237024496
6MTRMTR, IVS6AS, G-A, LYS203SNVPathogenic
7MTRNM_ 000254.2(MTR): c.3380dupA (p.Ala1128Glyfs)duplicationPathogenicrs797044445GRCh37Chr 1, 237057832: 237057832
8MTRNM_ 000254.2(MTR): c.1753C> T (p.Arg585Ter)SNVPathogenicrs121913580GRCh37Chr 1, 237015878: 237015878
9MTRNM_ 000254.2(MTR): c.3613G> T (p.Glu1205Ter)SNVPathogenicrs121913581GRCh37Chr 1, 237060320: 237060320
10MTRNM_ 000254.2(MTR): c.1228G> C (p.Ala410Pro)SNVPathogenicrs121913582GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet