MCID: MTH054
MIFTS: 38

Methylmalonic Aciduria and Homocystinuria, Cblc Type malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases categories

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Methylmalonic Aciduria and Homocystinuria, Cblc Type, Aliases & Descriptions:

Name: Methylmalonic Aciduria and Homocystinuria, Cblc Type 45 10
Cblc Defect 41 20 47
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc 41 47
Methylmalonic Aciduria with Homocystinuria, Type Cblc 41 47
Methylmalonic Acidemia with Homocystinuria, Type Cblc 41 47
Cobalamin C Disease 41 60
Cobalamin C Defect 41 47
 
Methylmalonic Aciduria and Homocystinuria Type Cblc 9
Methylmalonic Acidemia and Homocystinuria Cblc Type 41
Methylmalonic Acidemia and Homocystinuria Cblc 41
Methylmalonic Aciduria and Homocystinuria Cblc 41
Cobalamin C Deficiency 9
Cblc 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
cblc defect:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 277400
Disease Ontology9 DOID:0050715
Orphanet47 79282
ICD10 via Orphanet26 E72.1

Summaries for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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OMIM:45 Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl;... (277400) more...

MalaCards based summary: Methylmalonic Aciduria and Homocystinuria, Cblc Type, also known as cblc defect, is related to homocystinuria and methylmalonic acidemia, and has symptoms including hydrocephalus, microcephaly and retinopathy. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblc Type is MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria), and among its related pathways is Metabolism. The compounds vitamin b12 and cobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye.

Disease Ontology:9 A methylmalonic acidemia that has material basis in deficiency in synthesis of both adocbl and mecbl (cblc) and is characterized by decreased levels of the coenzymes adenosylcobalamin (adocbl) and methylcobalamin (mecbl), which results in decreased activity of the respective enzymes methylmalonyl-coa mutase.

NIH Rare Diseases:41 Methylmalonic academia with homocystinuria (mma+hcu) cblc is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). as a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. treatment should begin as soon as possible. in general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin b12 shots. most us states now offer newborn screening for mma+hcu, allowing for early detection and treatment. however even with early treatment, most children with mma+hcu experience some symptoms affecting vision, growth, and learning. mma+hcu cblc type is caused by changes in the mmachc gene. it is inherited in an autosomal recessive fashion. last updated: 6/11/2014

Related Diseases for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Graphical network of diseases related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:



Diseases related to methylmalonic aciduria and homocystinuria, cblc type

Symptoms for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Symptoms by clinical synopsis from OMIM:

277400

Clinical features from OMIM:

277400

Symptoms:

 47 (show all 11)
  • microcephaly
  • retinopathy
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • anorexia
  • megaloblastic anemia
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • asthenia/fatigue/weakness
  • pallor

HPO human phenotypes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

(show all 53)
id Description Frequency HPO Source Accession
1 hydrocephalus hallmark (90%) HP:0000238
2 microcephaly hallmark (90%) HP:0000252
3 retinopathy hallmark (90%) HP:0000488
4 pallor hallmark (90%) HP:0000980
5 seizures hallmark (90%) HP:0001250
6 megaloblastic anemia hallmark (90%) HP:0001889
7 anorexia hallmark (90%) HP:0002039
8 reduced consciousness/confusion hallmark (90%) HP:0004372
9 autosomal recessive inheritance HP:0000007
10 renal insufficiency HP:0000083
11 proteinuria HP:0000093
12 nephropathy HP:0000112
13 hydrocephalus HP:0000238
14 microcephaly HP:0000252
15 long face HP:0000276
16 smooth philtrum HP:0000319
17 high forehead HP:0000348
18 low-set ears HP:0000369
19 macrotia HP:0000400
20 visual impairment HP:0000505
21 pigmentary retinopathy HP:0000580
22 nystagmus HP:0000639
23 dementia HP:0000726
24 hematuria HP:0000790
25 intellectual disability HP:0001249
26 seizures HP:0001250
27 muscular hypotonia HP:0001252
28 lethargy HP:0001254
29 global developmental delay HP:0001263
30 confusion HP:0001289
31 tremor HP:0001337
32 failure to thrive HP:0001508
33 thrombocytopenia HP:0001873
34 neutropenia HP:0001875
35 megaloblastic anemia HP:0001889
36 thromboembolism HP:0001907
37 metabolic acidosis HP:0001942
38 abnormality of extrapyramidal motor function HP:0002071
39 cerebral cortical atrophy HP:0002120
40 homocystinuria HP:0002156
41 hyperhomocystinemia HP:0002160
42 methylmalonic acidemia HP:0002912
43 decreased adenosylcobalamin HP:0003145
44 cystathioninuria HP:0003153
45 decreased methylmalonyl-coa mutase activity HP:0003210
46 decreased methylcobalamin HP:0003223
47 cystathioninemia HP:0003286
48 decreased methionine synthase activity HP:0003524
49 infantile onset HP:0003593
50 hypomethioninemia HP:0003658
51 hemolytic-uremic syndrome HP:0005575
52 feeding difficulties in infancy HP:0008872
53 methylmalonic aciduria HP:0012120

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Drug clinical trials:

Search ClinicalTrials for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Search NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Genetic Tests for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Genetic tests related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

id Genetic test Affiliating Genes
1 Cblc20 MMACHC

Anatomical Context for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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MalaCards organs/tissues related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

31
Eye

Animal Models for Methylmalonic Aciduria and Homocystinuria, Cblc Type or affiliated genes

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Publications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Articles related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

idTitleAuthorsYear
1
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. (24974159)
2014
2
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China. (22560872)
2012
3
Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. (21835369)
2011
4
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. (19836982)
2010
5
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. (20610126)
2010
6
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. (18164228)
2008
7
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). (17768669)
2007
8
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay. (16963011)
2007
9
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (16311595)
2006

Variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1MMACHCp.Gln27ArgVAR_024770
2MMACHCp.Leu116ProVAR_024771
3MMACHCp.His122ArgVAR_024772
4MMACHCp.Tyr130HisVAR_024773
5MMACHCp.Gly147AlaVAR_024774rs140522266
6MMACHCp.Gly147AspVAR_024775
7MMACHCp.Gly156AspVAR_024776
8MMACHCp.Trp157CysVAR_024777
9MMACHCp.Arg161GlyVAR_024778
10MMACHCp.Arg161GlnVAR_024779
11MMACHCp.Arg189SerVAR_024780
12MMACHCp.Leu193ProVAR_024781
13MMACHCp.Arg206ProVAR_024782
14MMACHCp.Arg206TrpVAR_024783

Clinvar genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MMACHCMMACHC, 1-BP DUP, 271AduplicationPathogenic
2MMACHCNM_015506.2(MMACHC): c.347T> C (p.Leu116Pro)single nucleotide variantPathogenicrs121918240GRCh37Chr 1, 45973954: 45973954
3MMACHCNM_015506.2(MMACHC): c.394C> T (p.Arg132Ter)single nucleotide variantPathogenicrs121918241GRCh37Chr 1, 45974001: 45974001
4MMACHCNM_015506.2(MMACHC): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs121918242GRCh37Chr 1, 45973938: 45973938
5MMACHCNM_015506.2(MMACHC): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs121918243GRCh37Chr 1, 45974520: 45974520
6MMACHCNM_015506.2(MMACHC): c.609G> A (p.Trp203Ter)single nucleotide variantPathogenicGRCh37Chr 1, 45974647: 45974647
7MMACHCMMACHC, 3-BP DEL, 658AAGdeletionPathogenic

Expression for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria, Cblc Type.

Pathways for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Pathways related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CBS, MMACHC

Compounds for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1vitamin b12439.1CBS, MMACHC
2cobalamin43 249.8CBS, MMACHC

GO Terms for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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Cellular components related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058299.1CBS, MMACHC

Biological processes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442819.1CBS, MMACHC

Products for genes affiliated with Methylmalonic Aciduria and Homocystinuria, Cblc Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Methylmalonic Aciduria and Homocystinuria, Cblc Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet