MCID: MTH021
MIFTS: 13

Methylmalonic Acidemia with Homocystinuria malady

Rare diseases category

Summaries for Methylmalonic Acidemia with Homocystinuria

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34MalaCards
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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

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44NIH Rare Diseases, 23GTR
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Classifications:

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


Aliases & Descriptions:

methylmalonic acidemia with homocystinuria 44 23
methylmalonic acidemia and homocystinemia 44


Related Diseases for Methylmalonic Acidemia with Homocystinuria

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18GeneCards, 19GeneDecks
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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

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Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Methylmalonic Acidemia with Homocystinuria

Drug clinical trials:

Search ClinicalTrials for Methylmalonic Acidemia with Homocystinuria

Search NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria

Search CenterWatch for Methylmalonic Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

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23GTR
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Genetic tests related to Methylmalonic Acidemia with Homocystinuria:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia with Homocystinuria23

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

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Animal Models for Methylmalonic Acidemia with Homocystinuria or affiliated genes

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Publications for Methylmalonic Acidemia with Homocystinuria

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Variations for Methylmalonic Acidemia with Homocystinuria

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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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

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Sources:
16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Methylmalonic Acidemia with Homocystinuria.

Pathways for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Compounds for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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GO Terms for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Products for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Methylmalonic Acidemia with Homocystinuria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet