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| Terms & Properties |
Concept Unique Identifier (CUI): C0037231
NCI Thesaurus Code: C85070 (see NCI Thesaurus info)
Semantic Type: Congenital Abnormality
Semantic Type: Disease or Syndrome
NCIt Definition: An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability.
GARD Definition: Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), mental retardation, and spasticity (stiffness and involuntary muscle spasms). The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. Treatment is symptomatic. - this information is from GARD/ORDR/NCATS.
MSH Definition: An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.
Synonyms & Abbreviations: (see Synonym Details)
| Congenital Icthyosis Mental Retardation Spasticity Syndrome |
| FADH deficiency |
| FALDH deficiency |
| FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency |
| FAO deficiency |
| Fatty acid alcohol oxidoreductase deficiency |
| Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency |
| Fatty Alcohol:NAD+ Oxidoreductase Deficiency |
| FATTY ALDEHYDE DEHYDROGENASE DEFIC DIS |
| Fatty Aldehyde Dehydrogenase Deficiency Disease |
| Fatty aldehyde dehydrogenase deficiency |
| Ichthyosis Oligophrenia Syndrome |
| Ichthyosis, spastic neurologic disorder, and oligophrenia |
| Sjoegren-Larsson syndrome |
| Sjogren Larsson syndrome |
| Sjogren-Larsson Syndrome |
| Sjögren-Larsson syndrome |
| Sjögren-Larsson syndrome (disorder) |
| Sjögren-Larsson Syndrome |
| SLS |
External Source Codes:
| NCI Thesaurus Code | C85070 (see NCI Thesaurus info) |
Other Properties:
| Name | Value | Source |
|---|---|---|
| ACTIVE | 1 | SNOMEDCT_US |
| AN | do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sjögren-Larsson | MSH |
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI | MSH |
| CASE_SIGNIFICANCE_ID | 900000000000017005 | SNOMEDCT_US |
| CASE_SIGNIFICANCE_ID | 900000000000448009 | SNOMEDCT_US |
| Contributing_Source | Cellosaurus | NCI |
| CTV3ID | X50IH | 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 |
| DC | 1 | MSH |
| DEFINITION_STATUS_ID | 900000000000074008 | SNOMEDCT_US |
| DID | 0726-9470 | CSP |
| DID | 1840-2225 | CSP |
| DID | 2057-3666 | CSP |
| DISEASE_IDENTIFIER_ID | 34141 | GARD |
| DISEASE_IDENTIFIER_ID | 5807 | GARD |
| DISEASE_IDENTIFIER_ID | 5808 | GARD |
| DISEASE_IDENTIFIER_ID | 5809 | GARD |
| DISEASE_IDENTIFIER_ID | 5810 | GARD |
| DISEASE_IDENTIFIER_ID | 5811 | GARD |
| DISEASE_IDENTIFIER_ID | 5812 | GARD |
| DISEASE_IDENTIFIER_ID | 5813 | GARD |
| DISEASE_IDENTIFIER_ID | 5814 | GARD |
| DX | 19910101 | MSH |
| EFFECTIVE_TIME | 20020131 | SNOMEDCT_US |
| GENELOCUS | 17p11.2 | OMIM |
| GENESYMBOL | ALDH10 | OMIM |
| GENESYMBOL | ALDH3A2 | OMIM |
| GENESYMBOL | FALDH | OMIM |
| GENESYMBOL | SLS | OMIM |
| HAS_GARD_PAGE | true | GARD |
| HN | 1991; use ICHTHYOSIS 1984-1990 | MSH |
| IDENTIFIER_SOURCE | Orp | GARD |
| IDENTIFIER_TYPE_ID | 1 | GARD |
| IS_ACTIVE | true | GARD |
| IS_RARE | true | GARD |
| IS_SPANISH | false | GARD |
| LAST_REVIEW_DATE | 2009-12-15T00:00:00 | GARD |
| MDA | 19900606 | MSH |
| MIMTYPE | 3 | OMIM |
| MIMTYPEMEANING | Phenotype description, molecular basis known. | OMIM |
| MIMTYPEVALUE | pound | OMIM |
| MMR | 20210701 | MSH |
| MN | C16.131.831.512.723 | MSH |
| MN | C16.320.565.398.641.723 | MSH |
| MN | C16.320.850.820 | MSH |
| MN | C16.614.492.723 | MSH |
| MN | C17.800.428.333.723 | MSH |
| MN | C17.800.804.512.723 | MSH |
| MN | C17.800.827.820 | MSH |
| MN | C18.452.584.563.641.723 | MSH |
| MN | C18.452.648.398.641.723 | MSH |
| PM | 1991; see ICHTHYOSIS 1984-1990 | MSH |
| PRIMARY_PATH | 10048676$10029300$10029299$10010331$Sjogren-Larsson syndrome$Neurological disorders congenital NEC$Neurological disorders congenital$Congenital, familial and genetic disorders | MDR |
| PRIMARY_SOC | 10010331 | MDR |
| PT_IN_VERSION | 10.0 | MDR |
| PT_IN_VERSION | 10.1 | MDR |
| PT_IN_VERSION | 11.0 | MDR |
| PT_IN_VERSION | 11.1 | MDR |
| PT_IN_VERSION | 12.0 | MDR |
| PT_IN_VERSION | 12.1 | MDR |
| PT_IN_VERSION | 13.0 | MDR |
| PT_IN_VERSION | 13.1 | MDR |
| PT_IN_VERSION | 14.0 | MDR |
| PT_IN_VERSION | 14.1 | MDR |
| PT_IN_VERSION | 15.0 | MDR |
| PT_IN_VERSION | 15.1 | MDR |
| PT_IN_VERSION | 16.0 | MDR |
| PT_IN_VERSION | 16.1 | MDR |
| PT_IN_VERSION | 17.0 | MDR |
| PT_IN_VERSION | 17.1 | MDR |
| PT_IN_VERSION | 18.0 | MDR |
| PT_IN_VERSION | 18.1 | MDR |
| PT_IN_VERSION | 19.0 | MDR |
| PT_IN_VERSION | 19.1 | MDR |
| PT_IN_VERSION | 20.0 | MDR |
| PT_IN_VERSION | 20.1 | MDR |
| PT_IN_VERSION | 21.0 | MDR |
| PT_IN_VERSION | 21.1 | MDR |
| PT_IN_VERSION | 22.0 | MDR |
| PT_IN_VERSION | 22.1 | MDR |
| PT_IN_VERSION | 23.0 | MDR |
| PT_IN_VERSION | 23.1 | MDR |
| PT_IN_VERSION | 24.0 | MDR |
| PT_IN_VERSION | 24.1 | MDR |
| PT_IN_VERSION | 25.0 | MDR |
| PT_IN_VERSION | 25.1 | MDR |
| PT_IN_VERSION | 26.0 | MDR |
| PT_IN_VERSION | 8.0 | MDR |
| PT_IN_VERSION | 8.1 | MDR |
| PT_IN_VERSION | 9.0 | MDR |
| PT_IN_VERSION | 9.1 | MDR |
| RARE_DISEASE_URL | http://rarediseases.info.nih.gov/gard/7654/sjogren-larsson-syndrome/resources/1 | GARD |
| SMQ_TERM_ADDVERSION | 10.0 | MDR |
| SMQ_TERM_CAT | A | MDR |
| SMQ_TERM_LEVEL | 4 | MDR |
| SMQ_TERM_LEVEL | 5 | MDR |
| SMQ_TERM_LMVERSION | 14.0 | MDR |
| SMQ_TERM_SCOPE | 2 | MDR |
| SMQ_TERM_STATUS | A | MDR |
| SMQ_TERM_WEIGHT | 0 | MDR |
| SOS | Caused by mutation in the aldehyde dehydrogenase 3 family, member A2 gene (ALDH3A2, 609523.0001) [MOLECULAR BASIS] | OMIM |
| SOS | Onset of neurologic symptoms often by 30 months [MISCELLANEOUS] | OMIM |
| SOS | Prevalent in Sweden [MISCELLANEOUS] | OMIM |
| SUBSET_MEMBER | 900000000000497000~MAPTARGET~X50IH | SNOMEDCT_US |
| TERMUI | T047868 | MSH |
| TERMUI | T647940 | MSH |
| TERMUI | T752534 | MSH |
| TERMUI | T752535 | MSH |
| TERMUI | T752536 | MSH |
| TERMUI | T752537 | MSH |
| TERMUI | T842461 | MSH |
| TERMUI | T842462 | MSH |
| TERMUI | T842463 | MSH |
| TH | GHR (2014) | MSH |
| TH | NLM (1991) | MSH |
| TH | NLM (2007) | MSH |
| TH | NLM (2010) | MSH |
| TH | OMIM (2013) | 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=C0037231
