MCID: HMC036
MIFTS: 23

Homocystinuria Without Methylmalonic Aciduria

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

Aliases & Classifications for Homocystinuria Without Methylmalonic Aciduria

MalaCards integrated aliases for Homocystinuria Without Methylmalonic Aciduria:

Name: Homocystinuria Without Methylmalonic Aciduria 58 6
Functional Methionine Synthase Deficiency 58
Methylcobalamin Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
homocystinuria without methylmalonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Homocystinuria Without Methylmalonic Aciduria

MalaCards based summary : Homocystinuria Without Methylmalonic Aciduria, also known as functional methionine synthase deficiency, is related to homocystinuria-megaloblastic anemia, cblg complementation type and homocystinuria-megaloblastic anemia, cble complementation type. An important gene associated with Homocystinuria Without Methylmalonic Aciduria is MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase). Affiliated tissues include bone marrow and bone, and related phenotypes are muscular hypotonia and megaloblastic bone marrow

Related Diseases for Homocystinuria Without Methylmalonic Aciduria

Graphical network of the top 20 diseases related to Homocystinuria Without Methylmalonic Aciduria:



Diseases related to Homocystinuria Without Methylmalonic Aciduria

Symptoms & Phenotypes for Homocystinuria Without Methylmalonic Aciduria

Human phenotypes related to Homocystinuria Without Methylmalonic Aciduria:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 megaloblastic bone marrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0001980
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
8 psychosis 58 31 frequent (33%) Frequent (79-30%) HP:0000709
9 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
10 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
11 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
12 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
13 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254

Drugs & Therapeutics for Homocystinuria Without Methylmalonic Aciduria

Search Clinical Trials , NIH Clinical Center for Homocystinuria Without Methylmalonic Aciduria

Genetic Tests for Homocystinuria Without Methylmalonic Aciduria

Anatomical Context for Homocystinuria Without Methylmalonic Aciduria

MalaCards organs/tissues related to Homocystinuria Without Methylmalonic Aciduria:

40
Bone Marrow, Bone

Publications for Homocystinuria Without Methylmalonic Aciduria

Articles related to Homocystinuria Without Methylmalonic Aciduria:

(show all 20)
# Title Authors PMID Year
1
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. 6 61
12068375 2002
2
Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). 61 6
2860337 1985
3
Gene identification for the cblD defect of vitamin B12 metabolism. 6
18385497 2008
4
Disorders of Intracellular Cobalamin Metabolism 6
20301503 2008
5
Isolated Methylmalonic Acidemia 6
20301409 2005
6
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 6
15714522 2005
7
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. 6
12555939 2002
8
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. 6
10484769 1999
9
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. 6
9683607 1998
10
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 6
9501215 1998
11
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. 6
8968737 1996
12
Defects in human methionine synthase in cblG patients. 6
8968736 1996
13
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. 6
6700644 1984
14
Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. 6
1060915 1976
15
Homocystinuria with methylmalonic aciduria: two cases in a sibship. 6
5524089 1970
16
Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools. 61
30676783 2019
17
Methyl B12 protects PC12 cells against cytotoxicity induced by Aβ25-35. 61
30793354 2019
18
Hyperhomocysteinemia and functional cobalamin deficiency due to granulocytosis-induced alterations in the cobalamin-binding protein. 61
16531264 2006
19
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. 61
3384945 1988
20
Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency. 61
3812589 1987

Variations for Homocystinuria Without Methylmalonic Aciduria

ClinVar genetic disease variations for Homocystinuria Without Methylmalonic Aciduria:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTRR NC_000005.10:g.7875314C>Tundetermined variant Pathogenic 666994

Expression for Homocystinuria Without Methylmalonic Aciduria

Search GEO for disease gene expression data for Homocystinuria Without Methylmalonic Aciduria.

Pathways for Homocystinuria Without Methylmalonic Aciduria

GO Terms for Homocystinuria Without Methylmalonic Aciduria

Sources for Homocystinuria Without Methylmalonic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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