Format

Send to:

Choose Destination

Posterior column ataxia with retinitis pigmentosa(AXPC1)

MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Synonyms: AXPC1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): FLVCR1 (1q32.3)
OMIM®: 609033
Orphanet: ORPHA88628

Definition

Posterior column ataxia with retinitis pigmentosa is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011). [from OMIM]

Clinical features

From HPO
Achalasia
MedGen UID:
5023
Concept ID:
C0014848
Disease or Syndrome
A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
An inability to see clearly in dim light; due to a deficiency of vitamin A or to a retinal disorder.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
A finding indicating the complete absence of neurological reflexes.
Skeletal muscle atrophy
MedGen UID:
902598
Concept ID:
C0234958
Disease or Syndrome
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Positive Romberg sign
MedGen UID:
66017
Concept ID:
C0240914
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Sensory ataxia
MedGen UID:
66020
Concept ID:
C0240991
Sign or Symptom
Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.
Recurrent UTI
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Scotoma
MedGen UID:
91021
Concept ID:
C0344233
Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Ring scotoma
MedGen UID:
140951
Concept ID:
C0438434
Sign or Symptom
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Finding
Blindness is the condition of lacking visual perception due to physiological or neurological factors.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
A decrease in the ability to perceive vibration in the legs.
Decreased sensory nerve conduction velocity
MedGen UID:
336512
Concept ID:
C1849148
Finding
Reduced speed of conduction of the action potential along a sensory nerve.
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
Distal muscle weakness
MedGen UID:
355271
Concept ID:
C1864696
Finding
Reduced strength of the musculature of the distal extremities.
Rod-cone dystrophy
MedGen UID:
892740
Concept ID:
C4072872
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior column ataxia with retinitis pigmentosa
Follow this link to review classifications for Posterior column ataxia with retinitis pigmentosa in Orphanet.

Recent clinical studies

Etiology

Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK
Ophthalmic Genet 2018 Dec;39(6):735-740. Epub 2018 Nov 16 doi: 10.1080/13816810.2018.1547913. PMID: 30444160
Yusuf IH, Shanks ME, Clouston P, MacLaren RE
Ophthalmic Genet 2018 Apr;39(2):263-267. Epub 2017 Dec 1 doi: 10.1080/13816810.2017.1408848. PMID: 29192808Free PMC Article
Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S
Neurogenetics 2011 May;12(2):117-21. Epub 2011 Jan 26 doi: 10.1007/s10048-010-0271-4. PMID: 21267618

Diagnosis

Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK
Ophthalmic Genet 2018 Dec;39(6):735-740. Epub 2018 Nov 16 doi: 10.1080/13816810.2018.1547913. PMID: 30444160

Prognosis

Yusuf IH, Shanks ME, Clouston P, MacLaren RE
Ophthalmic Genet 2018 Apr;39(2):263-267. Epub 2017 Dec 1 doi: 10.1080/13816810.2017.1408848. PMID: 29192808Free PMC Article
Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D
Am J Med Genet B Neuropsychiatr Genet 2017 Oct;174(7):732-739. Epub 2017 Aug 2 doi: 10.1002/ajmg.b.32570. PMID: 28766925
Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M
Int J Neurosci 2015 Jan;125(1):43-9. Epub 2014 May 16 doi: 10.3109/00207454.2014.904858. PMID: 24628582

Clinical prediction guides

Yusuf IH, Shanks ME, Clouston P, MacLaren RE
Ophthalmic Genet 2018 Apr;39(2):263-267. Epub 2017 Dec 1 doi: 10.1080/13816810.2017.1408848. PMID: 29192808Free PMC Article
Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M
Int J Neurosci 2015 Jan;125(1):43-9. Epub 2014 May 16 doi: 10.3109/00207454.2014.904858. PMID: 24628582
Khan AA, Quigley JG
Mol Aspects Med 2013 Apr-Jun;34(2-3):669-82. doi: 10.1016/j.mam.2012.07.013. PMID: 23506900Free PMC Article
Higgins JJ, Morton DH, Loveless JM
Neurology 1999 Jan 1;52(1):146-50. doi: 10.1212/wnl.52.1.146. PMID: 9921862

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center