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, 30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria Type Cbld:

Name: Methylmalonic Acidemia with Homocystinuria Type Cbld 47
Methylmalonic Acidemia and Homocystinuria, Cbld Type 47 24
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cbld 47
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome 53
Methylmalonic Aciduria, Cbld Type, Variant 2, Included 47
Methylmalonic Acidemia with Homocystinuria, Type Cbld 47
Methylmalonic Aciduria with Homocystinuria, Type Cbld 47
Mehtylmalonic Acidemia with Homocystinuria Cbi D 47
Homocystinuria, Cbld Type, Variant 1, Included 47
 
Methylmalonic Acidemia, Cbld Type, Variant 2 24
Methylmalonic Aciduria, Cblh Type, Formerly 47
Methylmalonic Acidemia, Cblh Type, Formerly 47
Homocystinuria, Cbld Type, Variant 1 24
Scholte-Begeer-Van Essen Syndrome 53
Cobalamin D Defect 47
Cbld Defect 47
Cbld 24

Characteristics:

Orphanet epidemiological data:

53
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:

Orphanet53 ORPHA3041
ICD10 via Orphanet30 Q87.8
UMLS via Orphanet68 C1866985

Summaries for Methylmalonic Acidemia with Homocystinuria Type Cbld

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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 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:

35
Bone

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)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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet