skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201706 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Alpers Syndrome (disorder) (CUI C0205710) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0205710

NCI Thesaurus Code: C35257  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely.

GARD Definition: Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).   Most often Alpers syndrome is caused by mutations in the POLG gene. - this information is from GARD/ORDR/NCATS.

NICHD Definition: A neurodegenerative disorder with autosomal recessive inheritance that presents in childhood and is characterized by spasticity, seizures, dementia, and liver disease.

Synonyms & Abbreviations: (see Synonym Details)
AHD
AHS
Alper Disease
Alper Syndrome
Alper's Disease
Alper's Syndrome
Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
Alpers disease
ALPERS DIS
Alpers Huttenlocher Disease
Alpers Huttenlocher Syndrome
Alpers progressive infantile poliodystrophy
Alpers progressive sclerosing poliodystrophy
Alpers Syndrome (disorder)
Alpers syndrome
Alpers' disease or gray-matter degeneration
Alpers' disease
Alpers' Syndrome
Alpers-Huttenlocher syndrome
Disease, Alpers'
Gray matter degeneration
Grey-matter degeneration
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
MTDPS4A
Neuronal degeneration of childhood with liver disease, progressive
PNDC
Poliodystrophy
Progressive neuronal degeneration of childhood with liver disease
Progressive neuronal degeneration with liver cirrhosis
Progressive Sclerosing Poliodystrophies
Progressive sclerosing poliodystrophy (disorder)
Progressive Sclerosing Poliodystrophy
Spongy glioneuronal dystrophy
Syndrome, Alpers-Huttenlocher
Syndrome, Alpers

External Source Codes: 
NCI Thesaurus Code C35257 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source MedDRA NCI
Contributing_Source NICHD NCI
CTV3ID F10y0 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 900000000000073002 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 17161 GARD
DISEASE_IDENTIFIER_ID 17162 GARD
DISEASE_IDENTIFIER_ID 17163 GARD
DISEASE_IDENTIFIER_ID 17167 GARD
DISEASE_IDENTIFIER_ID 17168 GARD
DISEASE_IDENTIFIER_ID 33710 GARD
DISEASE_IDENTIFIER_ID 33711 GARD
EFFECTIVE_TIME 20020731 SNOMEDCT_US
GENELOCUS ,1,5,q,2,5, OMIM
GENESYMBOL MIRAS OMIM
GENESYMBOL MTDPS4A OMIM
GENESYMBOL MTDPS4B OMIM
GENESYMBOL PEO OMIM
GENESYMBOL POLG1 OMIM
GENESYMBOL POLGA OMIM
GENESYMBOL POLG OMIM
GENESYMBOL SANDO OMIM
GENESYMBOL SCAE OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2011-02-02T00:00:00 GARD
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
NICHD_Hierarchy_Term Alpers Disease NCI
ORDER_NO 05883 ICD10CM
PRIMARY_PATH 10062943$10052637$10052635$10010331$Alpers' disease$Genetic mitochondrial abnormalities NEC$Cytoplasmic 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 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/5783/alpers-syndrome/resources/1 GARD
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMEDID DA-20160 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G31.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G31.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G31.81 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G31.81 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F10y0 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DA-20160 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T007433 MSH
TERMUI T007434 MSH
TERMUI T007435 MSH
TERMUI T752574 MSH
TERMUI T752575 MSH
TERMUI T769475 MSH
TERMUI T769476 MSH
TERMUI T769477 MSH
TERMUI T812087 MSH
TERMUI T840857 MSH
TH GHR (2014) MSH
TH NLM (1993) MSH
TH NLM (2010) MSH
TH NLM (2011) MSH
TH NLM (2014) 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=C0205710

Mainbox Bottom