MCID: MTH021
MIFTS: 13

Methylmalonic Acidemia with Homocystinuria malady

Rare diseases category
Download this MalaCard

Summaries for Methylmalonic Acidemia with Homocystinuria

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Methylmalonic Acidemia with Homocystinuria, also known as methylmalonic acidemia and homocystinemia, is related to methylmalonic aciduria and homocystinuria type cblf and methylmalonic aciduria and homocystinuria type cblc.

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

About this section
Sources:
43NIH Rare Diseases, 22GTR
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

methylmalonic acidemia with homocystinuria 43 22
methylmalonic acidemia and homocystinemia 43


Related Diseases for Methylmalonic Acidemia with Homocystinuria

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Methylmalonic Acidemia with Homocystinuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria type cblf10.6
2methylmalonic aciduria and homocystinuria type cblc10.4
3methylmalonicacidemia with homocystinuria cbl d10.4
4homocystinuria, cbld type, variant 110.4
5methylmalonic aciduria and homocystinuria, cblj type10.4
6mental retardation, x-linked 310.4

Graphical network of diseases related to Methylmalonic Acidemia with Homocystinuria:



Diseases related to methylmalonic acidemia with homocystinuria

Symptoms for Methylmalonic Acidemia with Homocystinuria

About this section

Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Methylmalonic Acidemia with Homocystinuria

Search NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

About this section
Sources:
22GTR
See all sources

Genetic tests related to Methylmalonic Acidemia with Homocystinuria:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia with Homocystinuria22

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

About this section

Animal Models for Methylmalonic Acidemia with Homocystinuria or affiliated genes

About this section

Publications for Methylmalonic Acidemia with Homocystinuria

About this section

Variations for Methylmalonic Acidemia with Homocystinuria

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Methylmalonic Acidemia with Homocystinuria:

1
id Gene Name Type Significance SNP ID Assembly Location
1MMACHCNM_015506.2(MMACHC): c.347T> C (p.Leu116Pro)single nucleotide variantPathogenicrs121918240GRCh37Chr 1, 45973954: 45973954
2MMACHCNM_015506.2(MMACHC): c.394C> T (p.Arg132Ter)single nucleotide variantPathogenicrs121918241GRCh37Chr 1, 45974001: 45974001
3MMACHCNM_015506.2(MMACHC): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs121918242GRCh37Chr 1, 45973938: 45973938
4MMACHCNM_015506.2(MMACHC): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs121918243GRCh37Chr 1, 45974520: 45974520
5MMACHCNM_015506.2(MMACHC): c.609G> A (p.Trp203Ter)single nucleotide variantPathogenicGRCh37Chr 1, 45974647: 45974647

Expression for genes affiliated with Methylmalonic Acidemia with Homocystinuria

About this section
Sources:
15Gene Expression Omnibus DataSets
See all sources

Search GEO for disease gene expression data for Methylmalonic Acidemia with Homocystinuria.

Pathways for genes affiliated with Methylmalonic Acidemia with Homocystinuria

About this section

Compounds for genes affiliated with Methylmalonic Acidemia with Homocystinuria

About this section

GO Terms for genes affiliated with Methylmalonic Acidemia with Homocystinuria

About this section

Products for genes affiliated with Methylmalonic Acidemia with Homocystinuria

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Methylmalonic Acidemia with Homocystinuria

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet