MCID: MTH062
MIFTS: 21

Methylmalonic Acidemia with Homocystinuria, Type Cbld malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Sources:
22GeneTests, 45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria, Type Cbld:

Name: Methylmalonic Acidemia with Homocystinuria, Type Cbld 45 51
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cbld 45 51
Methylmalonic Aciduria with Homocystinuria, Type Cbld 45 51
Methylmalonic Acidemia and Homocystinuria, Cbld Type 45 22
Cobalamin D Defect 45 51
Cbld Defect 45 51
Methylmalonic Aciduria, Cbld Type, Variant 2, Included 45
 
Mehtylmalonic Acidemia with Homocystinuria Cbi D 45
Homocystinuria, Cbld Type, Variant 1, Included 45
Methylmalonic Acidemia, Cbld Type, Variant 2 22
Methylmalonic Acidemia, Cblh Type, Formerly 45
Methylmalonic Aciduria, Cblh Type, Formerly 45
Homocystinuria, Cbld Type, Variant 1 22
Cbld 22

Characteristics:

Orphanet epidemiological data:

51
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

Classifications:



External Ids:

Orphanet51 79283
ICD10 via Orphanet28 E72.1

Summaries for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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NIH Rare Diseases:45 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 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld, is related to methylmalonic aciduria and homocystinuria, cbld type and methylmalonic acidemia, and has symptoms including abnormal gait, movement disorder and seizures/epilepsy/absences/spasms/status epilepticus. 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 type11.5
2methylmalonic acidemia10.0

Symptoms for Methylmalonic Acidemia with Homocystinuria, Type Cbld

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Symptoms:

 51 (show all 12)
  • abnormal gait
  • movement disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • anorexia
  • megaloblastic anemia
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • asthenia/fatigue/weakness
  • pallor

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 Cbld22 MMADHC
2 Cbld (variant 1)22 MMADHC
3 Cbld (variant 2)22 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:

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet