Disease #01026 (HARP (HARP syndrome), OMIM:607236)

Official abbreviation HARP
Name HARP syndrome
OMIM ID 607236
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 22
Phenotype entries for this disease 22
Associated with 1 gene PANK2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00410348 1 (R.B.) PubMed: Sakpichaisakul 2019 - F no Thailand South East Asian - - - - HARP - PANK2 PANK2 1 1 LOVD
00410349 2 (M.Y.) PubMed: Sakpichaisakul 2019 - M no Thailand South East Asian - - - - HARP - PANK2 PANK2 1 1 LOVD
00410350 3 (K.M.) PubMed: Sakpichaisakul 2019 - M no Thailand South East Asian - - - - HARP - PANK2 PANK2 1 1 LOVD
00410351 4 (A.M.) PubMed: Sakpichaisakul 2019 - M yes Thailand Myanmarese - - - - HARP - PANK2 PANK2 1 1 LOVD
00410352 5 (C.O.) PubMed: Sakpichaisakul 2019 - M no Thailand South East Asian - - - - HARP - PANK2 PANK2 2 1 LOVD
00410353 ? PubMed: Han 2016 - F - - - - - - - HARP 10y: postural instability (frequent stumbling), followed by cognitive impairment and progressive dystonia (walking on toes); child complained of a tingling sensation below her ankles and observed recurrent episodes of mood lability; no history of consanguinity or family history of ophthalmologic or neurologic disease; visual acuity: 20/40 both eyes; funduscopy: bilateral temporal optic disc pallor; neurological examination: intact toe gait, but abnormal heel gait; finger-to-nose testing was normal but tandem gait revealed swaying to both sides, which may have been due to lower extremity weakness; Romberg test: negative; electroencephalography, electromyography with motor and sensory velocity studies, and visual evoked potentials: normal limits; biochemical laboratory tests including blood and urine levels of copper, ceruloplasmin, ferritin, complete blood count, liver function, lactate and pyruvate levels, and amino acid and organic acid screenings: normal, with the exception of elevated serum creatine kinase (300 IU/L; normal, 135 IU/L); genetic analysis of mitochondrial DNA and the dominant optic atrophy (OPA1) gene, early-onset torsion dystonia (GAC deletion c.901_903 delGAG), dopa-responsive dystonia (GCH1), and myotonic dystrophy (DM kinase CAG repeats): no mutations; magnetic resonance imaging: unremarkable; 8months later reevaluation because of deterioration of cognitive and motor function, and progression of visual impairment; visual acuity: 20/80 bilaterally, pupillary reactions and eye movements: normal; bilateral temporal optic disc pallor; optical coherence tomography: retinal nerve fiber layer loss; electroretinogram: normal; neurological examination: tendency toward dystonic posturing of the right hand and gait ataxia; repeat brain MRI: symmetric T2 hypointensity without focal hyperintensity that involved the globi pallidi and substantia nigra bilaterally PANK2 PANK2 1 1 LOVD
00410361 1 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: could not perform; color vision: could not perform; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: PANK2 PANK2 2 1 LOVD
00410362 2 PubMed: Egan 2005 - M yes - - - - - - HARP visual acuity: normal; color vision: abnormal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: no*; abnormal saccaades: no; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: PANK2 PANK2 1 1 LOVD
00410363 3 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: yes; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: PANK2 PANK2 2 1 LOVD
00410364 4 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes PANK2 PANK2 2 1 LOVD
00410365 5 PubMed: Egan 2005 - M - - - - - - - HARP electroretinogram: normal; ""eye-of-the-tiger"" sign: yes PANK2 PANK2 2 1 LOVD
00410366 6 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: could not perform; color vision: could not perform; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: nd; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: PANK2 PANK2 2 1 LOVD
00410367 7 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: normal; ""eye-of-the-tiger"" sign: yes PANK2 PANK2 2 1 LOVD
00410368 8 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: no; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: PANK2 PANK2 2 1 LOVD
00410369 9 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: no; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: y PANK2 PANK2 1 1 LOVD
00410370 10 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: abnormal; electroretinogram loss pattern: moderate rod-cone; ""eye-of-the-tiger"" sign: yes PANK2 PANK2 2 1 LOVD
00410371 11 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: abnormal; electroretinogram loss pattern: mild rod-cone; ""eye-of-the-tiger"" sign: yes PANK2 PANK2 2 1 LOVD
00410372 12 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: noelectroretinogram: normal; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: no*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: yes; abnormal convergence: no; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: PANK2 PANK2 2 1 LOVD
00410373 13 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: could not perform; color vision: could not perform; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: nd; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: yes; blepharospasm: y PANK2 PANK2 1 1 LOVD
00410374 14 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: nasal depression; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: moderate rod-cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: PANK2 PANK2 2 1 LOVD
00410375 15 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: normal; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: PANK2 PANK2 1 1 LOVD
00410376 16 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: normal; ""eye-of-the-tiger"" sign: yes PANK2 PANK2 2 1 LOVD
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