MCID: MTH066
MIFTS: 14

Methylmalonic Acidemia with Homocystinuria Type Cbld malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria Type Cbld

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Sources:
24GeneTests, 31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria Type Cbld:

Name: Methylmalonic Acidemia with Homocystinuria Type Cbld 48
Methylmalonic Acidemia and Homocystinuria, Cbld Type 48 24
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cbld 48
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome 54
Methylmalonic Aciduria, Cbld Type, Variant 2, Included 48
Methylmalonic Acidemia with Homocystinuria, Type Cbld 48
Methylmalonic Aciduria with Homocystinuria, Type Cbld 48
Mehtylmalonic Acidemia with Homocystinuria Cbi D 48
Homocystinuria, Cbld Type, Variant 1, Included 48
 
Methylmalonic Acidemia, Cbld Type, Variant 2 24
Methylmalonic Aciduria, Cblh Type, Formerly 48
Methylmalonic Acidemia, Cblh Type, Formerly 48
Homocystinuria, Cbld Type, Variant 1 24
Scholte-Begeer-Van Essen Syndrome 54
Cobalamin D Defect 48
Cbld Defect 48
Cbld 24

Characteristics:

Orphanet epidemiological data:

54
intellectual disability-balding-patella luxation-acromicria syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA3041
ICD10 via Orphanet31 Q87.8
UMLS via Orphanet69 C1866985

Summaries for Methylmalonic Acidemia with Homocystinuria Type Cbld

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NIH Rare Diseases:48 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 bone.

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 type11.3

Symptoms & Phenotypes 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 Cbld24 MMADHC
2 Cbld (variant 1)24 MMADHC
3 Cbld (variant 2)24 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:

36
Bone

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)SNVPathogenicrs118204047GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet