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

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

Name: Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 54 50 66
Methylcobalamin Deficiency, Cblg Type 24 13 69
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type 39 24
Methylcobalamin Deficiency Cblg Type 66 29
Methionine Synthase Deficiency 50 66
Cblg 50 24
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cblg Complementation Type 66
Functional Methionine Synthase Deficiency Type Cblg 56
Methylcobalamin Deficiency Cbl G Type 50
Methylcobalamin Deficiency Type Cblg 56
Arakawa Syndrome 2 69
Hmag 66

Characteristics:

Orphanet epidemiological data:

56
methylcobalamin deficiency type cblg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

HPO:

32
homocystinuria-megaloblastic anemia, cblg complementation type:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 250940
Orphanet 56 ORPHA2170
ICD10 via Orphanet 34 E72.1
MedGen 40 C1855128
MeSH 42 D008661

Summaries for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

OMIM : 54 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, nystagmus and intellectual disability. An important gene associated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase).

NIH Rare Diseases : 50 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria type cblg 11.8
2 homocystinuria-megaloblastic anemia, cbl e type 11.1
3 methylmalonic aciduria and homocystinuria, cbld type 11.0
4 hyperhomocysteinemia 9.8
5 mthfr deficiency 9.8
6 cblf 9.8

Graphical network of the top 20 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

Symptoms by clinical synopsis from OMIM:

250940

Clinical features from OMIM:

250940

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

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 nystagmus 32 HP:0000639
3 intellectual disability 32 HP:0001249
4 muscular hypotonia 32 HP:0001252
5 gait disturbance 32 HP:0001288
6 failure to thrive 32 HP:0001508
7 global developmental delay 32 HP:0001263
8 blindness 32 HP:0000618
9 feeding difficulties in infancy 32 HP:0008872
10 poor coordination 32 HP:0002370
11 cerebral atrophy 32 HP:0002059
12 megaloblastic anemia 32 HP:0001889
13 decreased methylcobalamin 32 HP:0003223
14 homocystinuria 32 HP:0002156
15 hyperhomocystinemia 32 HP:0002160
16 decreased methionine synthase activity 32 HP:0003524
17 hypomethioninemia 32 HP:0003658

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


seizures

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

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

Genetic Tests for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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

id Genetic test Affiliating Genes
1 Methylcobalamin Deficiency, Cblg Type 29
2 Cblg 24 MTR

Anatomical Context for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

Publications for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

Variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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

66
id Symbol AA change Variation ID SNP ID
1 MTR p.His920Asp VAR_004330 rs28933097
2 MTR p.Pro1173Leu VAR_004331 rs121913578

ClinVar genetic disease variations for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 MTR NM_000254.2(MTR): c.3518C> T (p.Pro1173Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913578 GRCh37 Chromosome 1, 237058770: 237058770
2 MTR NM_000254.2(MTR): c.2640_2642delAAT (p.Ile881del) deletion Pathogenic rs797044443 GRCh37 Chromosome 1, 237044100: 237044102
3 MTR NM_000254.2(MTR): c.2758C> G (p.His920Asp) single nucleotide variant Pathogenic rs121913579 GRCh37 Chromosome 1, 237048502: 237048502
4 MTR MTR, IVS3AS, A-G, -166 single nucleotide variant Pathogenic
5 MTR NM_000254.2(MTR): c.2114_2115delTC (p.Leu705Glnfs) deletion Pathogenic rs797044444 GRCh37 Chromosome 1, 237024495: 237024496
6 MTR MTR, IVS6AS, G-A, LYS203 single nucleotide variant Pathogenic
7 MTR NM_000254.2(MTR): c.3380dupA (p.Ala1128Glyfs) duplication Pathogenic rs797044445 GRCh37 Chromosome 1, 237057832: 237057832
8 MTR NM_000254.2(MTR): c.1753C> T (p.Arg585Ter) single nucleotide variant Pathogenic rs121913580 GRCh37 Chromosome 1, 237015878: 237015878
9 MTR NM_000254.2(MTR): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs121913581 GRCh37 Chromosome 1, 237060320: 237060320
10 MTR NM_000254.2(MTR): c.1228G> C (p.Ala410Pro) single nucleotide variant Pathogenic rs121913582 GRCh37 Chromosome 1, 236998886: 236998886
11 MTR NM_000254.2(MTR): c.2669_2670delTG (p.Val890Glyfs) deletion Pathogenic rs794727395 GRCh37 Chromosome 1, 237044129: 237044130

Expression for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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

Pathways for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

GO Terms for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

Sources for Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

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