MCID: MTH062
MIFTS: 13

Methylmalonic Acidemia with Homocystinuria, Type Cbld malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria, Type Cbld:

Name: Methylmalonic Acidemia with Homocystinuria, Type Cbld 46
Methylmalonic Acidemia and Homocystinuria, Cbld Type 46 23
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cbld 46
Methylmalonic Aciduria, Cbld Type, Variant 2, Included 46
Methylmalonic Aciduria with Homocystinuria, Type Cbld 46
Mehtylmalonic Acidemia with Homocystinuria Cbi D 46
Homocystinuria, Cbld Type, Variant 1, Included 46
 
Methylmalonic Acidemia, Cbld Type, Variant 2 23
Methylmalonic Acidemia, Cblh Type, Formerly 46
Methylmalonic Aciduria, Cblh Type, Formerly 46
Homocystinuria, Cbld Type, Variant 1 23
Cobalamin D Defect 46
Cbld Defect 46
Cbld 23

Classifications:



Summaries for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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NIH Rare Diseases:46 Methylmalonic acidemia with homocystinuria, type cbld is an inherited condition in which the body is unable to metabolize certain proteins and fats properly. signs and symptoms generally develop in the first few months of life and may include failure to thrive, lethargy, vomiting, dehydration, hypotonia, developmental delay, seizures, ataxia (problems with muscle control), feeding difficulties, and an enlarged liver (hepatomegaly). intellectual disability is a long-term consequence. methylmalonic acidemia with homocystinuria, type cbld is caused by changes (mutations) in the mmadhc gene and is inherited in an autosomal recessive manner. there is no cure for the condition. treatments are focused on alleviating some of the associated symptoms and may include various medications and/or supplements. last updated: 11/9/2015

MalaCards based summary: Methylmalonic Acidemia with Homocystinuria, Type Cbld, also known as methylmalonic acidemia and homocystinuria, cbld type, is related to methylmalonic aciduria and homocystinuria, cbld type. An important gene associated with Methylmalonic Acidemia with Homocystinuria, Type Cbld is MMADHC (Methylmalonic Aciduria And Homocystinuria, CblD Type). Affiliated tissues include liver.

Related Diseases for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Diseases related to Methylmalonic Acidemia with Homocystinuria, Type Cbld via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cbld type11.4

Symptoms for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria, Type Cbld

Genetic Tests for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Genetic tests related to Methylmalonic Acidemia with Homocystinuria, Type Cbld:

id Genetic test Affiliating Genes
1 Cbld23 MMADHC
2 Cbld (variant 1)23 MMADHC
3 Cbld (variant 2)23 MMADHC

Anatomical Context for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria, Type Cbld:

34
Liver

Animal Models for Methylmalonic Acidemia with Homocystinuria, Type Cbld or affiliated genes

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Publications for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Variations for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Clinvar genetic disease variations for Methylmalonic Acidemia with Homocystinuria, Type Cbld:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MMADHCNM_015702.2(MMADHC): c.57_64delCTCTTTAG (p.Ser20Terfs)deletionPathogenicrs397509361GRCh37Chr 2, 150438731: 150438738
2MMADHCNM_015702.2(MMADHC): c.160C> T (p.Arg54Ter)single nucleotide variantPathogenicrs118204047GRCh37Chr 2, 150436157: 150436157
3MMADHCNM_015702.2(MMADHC): c.307_324dup18 (p.Ser108_Ser109insLeuAlaGluProLeuSer)duplicationPathogenicrs397509362GRCh37Chr 2, 150435993: 150436010

Expression for genes affiliated with Methylmalonic Acidemia with Homocystinuria, Type Cbld

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

Pathways for genes affiliated with Methylmalonic Acidemia with Homocystinuria, Type Cbld

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GO Terms for genes affiliated with Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Sources for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet