MCID: MTH021
MIFTS: 15

Methylmalonic Acidemia with Homocystinuria malady

Rare diseases category
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Summaries for Methylmalonic Acidemia with Homocystinuria

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MalaCards based summary: Methylmalonic Acidemia with Homocystinuria, also known as methylmalonic acidemia and homocystinemia, is related to methylmalonic aciduria and homocystinuria type cblf and homocystinuria. An important gene associated with Methylmalonic Acidemia with Homocystinuria is MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria). Affiliated tissues include kidney.

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

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Methylmalonic Acidemia with Homocystinuria, Aliases & Descriptions:

Name: Methylmalonic Acidemia with Homocystinuria 42 22 62
 
Methylmalonic Acidemia and Homocystinemia 42


Classifications:

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


Related Diseases for Methylmalonic Acidemia with Homocystinuria

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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 cblf10.7
2homocystinuria10.4
3methylmalonic aciduria and homocystinuria type cblc10.4
4methylmalonic acidemia10.4
5methylmalonicacidemia with homocystinuria cbl d10.4
6homocystinuria, cbld type, variant 110.4
7methylmalonic aciduria and homocystinuria, cblj type10.4
8mental 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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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

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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

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MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria:

32
Kidney

Animal Models for Methylmalonic Acidemia with Homocystinuria or affiliated genes

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Publications for Methylmalonic Acidemia with Homocystinuria

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Articles related to Methylmalonic Acidemia with Homocystinuria:

idTitleAuthorsYear
1
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. (25036075)
2014

Variations for Methylmalonic Acidemia with Homocystinuria

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Clinvar genetic disease variations for Methylmalonic Acidemia with Homocystinuria:

6
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.609G> A (p.Trp203Ter)single nucleotide variantPathogenicGRCh37Chr 1, 45974647: 45974647

Expression for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Expression patterns in normal tissues for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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

Sources for Methylmalonic Acidemia with Homocystinuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet