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| Terms & Properties |
Note: The CUI C0268583 you searched for is obsolete.
Concept Unique Identifier (CUI): C0268583
NCI Thesaurus Code: C98986 (see NCI Thesaurus info)
Semantic Type: Disease or Syndrome
NCIt Definition: A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
GARD Definition:
Methylmalonic acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. Signs and symptoms usually appear in early infancy and vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, lethargy, hepatomegaly, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Without treatment, this condition can lead to coma and death in some cases. Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. It is inherited in an autosomal recessive fashion.
HPO Definition: Increased concentration of methylmalonic acid in the blood. [https://orcid.org/0000-0002-0736-9199, PMID:26101005]
Synonyms & Abbreviations: (see Synonym Details)
| Acidemia, methylmalonic |
| Elevated circulating methylmalonic acid concentration |
| Isolated Methylmalonic Acidemia |
| Methylmalonic acidaemia |
| Methylmalonic acidemia (disorder) |
| Methylmalonic Acidemia |
| Methylmalonic Aciduria |
| MMA - Methylmalonic aciduria |
| MMA |
| Vitamin B12-unresponsive methylmalonic acidemia |
External Source Codes:
| NCI Thesaurus Code | C98986 (see NCI Thesaurus info) |
Other Properties:
| Name | Value | Source |
|---|---|---|
| ACTIVE | 1 | SNOMEDCT_US |
| CASE_SIGNIFICANCE_ID | 900000000000017005 | SNOMEDCT_US |
| CASE_SIGNIFICANCE_ID | 900000000000448009 | SNOMEDCT_US |
| Contributing_Source | Cellosaurus | NCI |
| Contributing_Source | NICHD | NCI |
| CTV3ID | X40Ss | SNOMEDCT_US |
| DATE_CREATED | 2013-01-09T00:04:00 | GARD |
| DATE_CREATED | 2015-01-22T00:04:00 | GARD |
| DATE_LAST_MODIFIED | 2013-01-09T00:04:00 | GARD |
| DEFINITION_STATUS_ID | 900000000000074008 | SNOMEDCT_US |
| DID | 1849-1120 | CSP |
| DISEASE_IDENTIFIER_ID | 32026 | GARD |
| DISEASE_IDENTIFIER_ID | 4461 | GARD |
| DISEASE_IDENTIFIER_ID | 4462 | GARD |
| EFFECTIVE_TIME | 20020131 | SNOMEDCT_US |
| FR | 356 | MSH |
| HAS_GARD_PAGE | true | GARD |
| HM | D000592 | MSH |
| HPO_COMMENT | Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. | HPO |
| IDENTIFIER_SOURCE | Orp | GARD |
| IDENTIFIER_TYPE_ID | 1 | GARD |
| IS_ACTIVE | true | GARD |
| IS_RARE | true | GARD |
| IS_SPANISH | false | GARD |
| MDA | 20100825 | MSH |
| MMR | 20160705 | MSH |
| ORDER_NO | 04722 | ICD10CM |
| PRIMARY_PATH | 10088602$10021602$10027424$10010331$Methylmalonic acidaemia$Inborn errors of amino acid metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders | MDR |
| PRIMARY_SOC | 10010331 | MDR |
| PT_IN_VERSION | 26.0 | MDR |
| RARE_DISEASE_URL | http://rarediseases.info.nih.gov/gard/7033/methylmalonic-acidemia/resources/1 | GARD |
| RN | 0 | MSH |
| SC | 3 | MSH |
| SID | HP:0003123 | HPO |
| SID | HP:0008295 | HPO |
| SMQ_TERM_ADDVERSION | 26.0 | MDR |
| SMQ_TERM_CAT | A | MDR |
| SMQ_TERM_LEVEL | 4 | MDR |
| SMQ_TERM_LEVEL | 5 | MDR |
| SMQ_TERM_LMVERSION | 26.0 | MDR |
| SMQ_TERM_SCOPE | 2 | MDR |
| SMQ_TERM_STATUS | A | MDR |
| SMQ_TERM_WEIGHT | 0 | MDR |
| SOS | An inherited autosomal recessive disorder characterized by abnormalities in protein and lipid metabolism. From an early age, patients present with various symptoms that may include VOMITING; DEHYDRATION; HYPOTONIA; DEVELOPMENTAL DELAYS; HEPATOMEGALY; LETHARGY, and CHRONIC KIDNEY DISEASE. Germline mutations in the MUT (OMIM: 609058), MMAA (OMIM: 251100), MMAB (OMIM: 251110) , MMADHC (OMIM: 277410), and MCEE (OMIM: 251120) genes have been identified. Acidemia means presence in the blood, Aciduria means presence in the urine. | MSH |
| SUBSET_MEMBER | 900000000000497000~MAPTARGET~X40Ss | SNOMEDCT_US |
| TERMUI | T742318 | MSH |
| TERMUI | T742320 | MSH |
| TERMUI | T842001 | MSH |
| TH | GHR (2014) | MSH |
| TH | ORD (2010) | MSH |
| TYPE_ID | 900000000000003001 | SNOMEDCT_US |
| TYPE_ID | 900000000000013009 | SNOMEDCT_US |
Additional Concept Data: (none)
URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0268583
