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Friedreich Ataxia (CUI C0016719) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0016719

NCI Thesaurus Code: C84718  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.

RADLEX Definition: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include gait ataxia, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; n engl j med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of gaa repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, n engl j med 1996 Oct 17;335(16):1169-75) [MeSH]

GARD Definition: Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include

  • Difficulty walking
  • Muscle weakness
  • Speech problems
  • Involuntary eye movements
  • Scoliosis (curving of the spine to one side)
  • Heart palpitations, from the heart disease which can happen along with Friedreich's ataxia

People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy.

NIH: National Institute of Neurological Disorders and Stroke

CSP Definition: inherited disease with degenerative changes in the dorsal half of spinal cord and cerebellum; characterized by ataxia of extremities and trunk, speech impairment, and lateral curvature of the spine.

MSH Definition: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)

Synonyms & Abbreviations: (see Synonym Details)
Ataxia, Friedreich Familial
Ataxia, Friedreich Hereditary
Ataxia, Friedreich Spinocerebellar
Ataxia, Friedreich's Familial
Ataxia, Friedreich's Hereditary
Ataxia, Friedreich's
ATAXIA, FRIEDREICH
Ataxias, Friedreich's Hereditary
Ataxias, Friedreich
Disease, Friedreich's
Disease, Friedreich
FA - Friedreich ataxia
Familial Ataxia, Friedreich's
Familial Ataxia, Friedreich
Familial ataxia
family ataxia
FA
FRDA
Friedreich Ataxia [Disease/Finding]
Friedreich Ataxias
Friedreich ataxia
Friedreich Ataxie
Friedreich Disease
FRIEDREICH DIS
Friedreich Familial Ataxia
Friedreich Hereditary Ataxia
Friedreich Hereditary Spinal Ataxia
Friedreich Spinocerebellar Ataxia
Friedreich's ataxia (disorder)
Friedreich's ataxia
Friedreich's disease
Friedreich's Familial Ataxia
Friedreich's Hereditary Ataxias
Friedreich's Hereditary Ataxia
Friedreich's Hereditary Spinal Ataxia
Friedreich's tabes
FRIEDREICHS ATAXIA
FRIEDREICHS DIS
Friedreichs Familial Ataxia
Friedreichs Hereditary Ataxia
Friedrich's ataxia
Friedrick's Ataxia
Hereditary Ataxia, Friedreich's
Hereditary Ataxia, Friedreich
Hereditary Ataxias, Friedreich's
Hereditary Spinal Ataxia, Friedreich's
Hereditary Spinal Ataxia, Friedreich
Hereditary Spinal Ataxia
Hereditary Spinal Scleroses
Hereditary spinal sclerosis
Scleroses, Hereditary Spinal
Sclerosis, Hereditary Spinal
Spinal Scleroses, Hereditary
spinal sclerosis hereditary
Spinal Sclerosis, Hereditary
Spinocerebellar ataxia, Friedreich

External Source Codes: 
NCI Thesaurus Code C84718 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F140. SNOMEDCT_US
DATE_CREATED 04/18/2006 MEDLINEPLUS
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 0485-3493 CSP
DISEASE_IDENTIFIER_ID 18656 GARD
DISEASE_IDENTIFIER_ID 18657 GARD
DISEASE_IDENTIFIER_ID 18658 GARD
DISEASE_IDENTIFIER_ID 18659 GARD
DISEASE_IDENTIFIER_ID 18660 GARD
DISEASE_IDENTIFIER_ID 34641 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 0 MSH
HAS_GARD_PAGE true GARD
HM D013132/Q000151 MSH
HN 2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MDA 20100825 MSH
MESH_DEFINITION An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) NDFRT
MESH_DUI D005621 NDFRT
MESH_NAME Friedreich Ataxia NDFRT
MESH_UI M0008844 NDFRT
MMR 20130708 MSH
MMR 20131106 MSH
MN C10.228.140.252.700.150 MSH
MN C10.228.854.787.200 MSH
MN C10.574.500.825.200 MSH
MN C16.320.400.780.200 MSH
MN C18.452.660.300 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/friedreichsataxia.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/friedreichsataxia.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001292 NDFRT
PM 2000; see FRIEDREICH'S ATAXIA 1966-1999; for FRIEDREICH'S DISEASE see MYOCLONUS 1997-1999 MSH
PRIMARY_PATH 10017374$10052633$10029299$10010331$Friedreich's ataxia$Cerebellar disorders congenital$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 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/6468/friedreich-ataxia/resources/1 GARD
REF orcid.org/0000-0001-5889-4463 HPO
RN 0 MSH
RXAUI 3161625 RXNORM
RXAUI 3161626 RXNORM
RXAUI 3161628 RXNORM
RXAUI 3161629 RXNORM
RXAUI 3161630 RXNORM
RXAUI 3161631 RXNORM
RXAUI 3161632 RXNORM
RXAUI 3161633 RXNORM
RXAUI 3161634 RXNORM
RXAUI 3161635 RXNORM
RXAUI 3161636 RXNORM
RXAUI 3161638 RXNORM
RXAUI 3172489 RXNORM
RXAUI 3172490 RXNORM
RXAUI 3172492 RXNORM
RXAUI 3236922 RXNORM
RXCUI 1025756 RXNORM
SC 3 MSH
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
SNOMED_CID 10394003 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G11.1 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~G11.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G11.1 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~G11.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F140. 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 T017014 MSH
TERMUI T017015 MSH
TERMUI T017016 MSH
TERMUI T027457 MSH
TERMUI T027458 MSH
TERMUI T364819 MSH
TERMUI T368108 MSH
TERMUI T368109 MSH
TERMUI T368113 MSH
TERMUI T368114 MSH
TERMUI T368115 MSH
TERMUI T368116 MSH
TERMUI T368118 MSH
TERMUI T373517 MSH
TERMUI T373518 MSH
TERMUI T727232 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (1997) MSH
TH NLM (2000) MSH
TH ORD (2010) MSH
TH UNK (19XX) 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=C0016719

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