MCID: MTH021
MIFTS: 26

Methylmalonic Acidemia with Homocystinuria malady

Rare diseases, Metabolic diseases, Blood diseases categories

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

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Sources:
41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Methylmalonic Acidemia with Homocystinuria, Aliases & Descriptions:

Name: Methylmalonic Acidemia with Homocystinuria 41 47 22 60
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis 47
 
Methylmalonic Aciduria with Homocystinuria 47
Methylmalonic Acidemia and Homocystinemia 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Metabolic diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
methylmalonic acidemia with homocystinuria:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: All ages


External Ids:

Orphanet47 26
MESH via Orphanet34 C537359
ICD10 via Orphanet26 E72.1
UMLS via Orphanet61 C1848561

Summaries for Methylmalonic Acidemia with Homocystinuria

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MalaCards based summary: Methylmalonic Acidemia with Homocystinuria, also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, is related to methylmalonic aciduria and homocystinuria, cblf type and methylmalonic acidemia with homocystinuria, type cblj, and has symptoms including abnormality of the oral cavity, microcephaly and retinopathy. An important gene associated with Methylmalonic Acidemia with Homocystinuria is MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria). Affiliated tissues include heart, skin and kidney.

Related Diseases for Methylmalonic Acidemia with Homocystinuria

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Graphical network of diseases related to Methylmalonic Acidemia with Homocystinuria:



Diseases related to methylmalonic acidemia with homocystinuria

Symptoms for Methylmalonic Acidemia with Homocystinuria

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Symptoms:

 47 (show all 17)
  • microcephaly
  • retinopathy
  • enanthema/aphtosa/aphta/leukoplakia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • megaloblastic anemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • asthenia/fatigue/weakness
  • congenital cardiac anomaly/malformation/cardiopathy
  • hydrocephaly
  • abnormal gait
  • movement disorder
  • psychic/behavioural troubles
  • cutaneous rash

HPO human phenotypes related to Methylmalonic Acidemia with Homocystinuria:

(show all 14)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 microcephaly hallmark (90%) HP:0000252
3 retinopathy hallmark (90%) HP:0000488
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 megaloblastic anemia hallmark (90%) HP:0001889
7 reduced consciousness/confusion hallmark (90%) HP:0004372
8 feeding difficulties in infancy hallmark (90%) HP:0008872
9 cognitive impairment hallmark (90%) HP:0100543
10 hydrocephalus typical (50%) HP:0000238
11 behavioral abnormality typical (50%) HP:0000708
12 gait disturbance typical (50%) HP:0001288
13 malformation of the heart and great vessels typical (50%) HP:0002564
14 skin rash occasional (7.5%) HP:0000988

Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

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Drug clinical trials:

Search ClinicalTrials for Methylmalonic Acidemia with Homocystinuria

Search NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

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Genetic tests related to Methylmalonic Acidemia with Homocystinuria:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia with Homocystinuria22

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

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MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria:

31
Heart, Skin, Kidney

Animal Models for Methylmalonic Acidemia with Homocystinuria or affiliated genes

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Publications for Methylmalonic Acidemia with Homocystinuria

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Articles related to Methylmalonic Acidemia with Homocystinuria:

idTitleAuthorsYear
1
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. (25036075)
2014

Variations for Methylmalonic Acidemia with Homocystinuria

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Clinvar genetic disease variations for Methylmalonic Acidemia with Homocystinuria:

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 Acidemia with Homocystinuria

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

Pathways for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Compounds for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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GO Terms for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Products for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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

Sources for Methylmalonic Acidemia with Homocystinuria

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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