Disease #00168 (PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)), OMIM:612674)

Official abbreviation PHARC
Name polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)
OMIM ID 612674
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 32
Phenotype entries for this disease 26
Associated with 1 gene ABHD12
Associated tissues -
Disease features -
Remarks -


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00001632 24027063-FamPatIII1 PubMed: Chen 2013 3-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Germany;British - 0 - - PHARC see paper; ... ABHD12 ABHD12, GINS1 2 1 Dong-Hui Chen
00059898 20797687-Fam6Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - United Arab Emirates Arab - 0 - - PHARC pec cavus from childhood, absent tendon reflexes; abnormal neurography and EMG ; 14y-deaf; mild ataxia; brain MR/CT normal; Indifferent plantar response; 20-ies Retinitis Pigmentosa; 15y-cataract; ABHD12 ABHD12 1 3 Jacopo Celli
00059899 20797687-Fam6Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - United Arab Emirates Arab - 0 - - PHARC 4y-pes cavus, absent tendon reflexes; demyelinating polyneuropathy; 6y-sensorineural hearing loss; 2y-gait, limb, speech ataxia; 10y-wheelchair-bound; Cerebellar atrophy (age 3); Extensor plantar response; Retinitis Pigmentosa; cataract; ABHD12 ABHD12 1 1 Jacopo Celli
00059900 20797687-Fam6Pat3 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - United Arab Emirates Arab - 0 - - PHARC absent tendon reflexes; sensorineural hearing loss; speech and limb ataxia; Cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059901 19005174-FamPatIV1 PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009 5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/relatives F - Norway Norwegian - 0 - - PHARC 38y-pes cavus, sensory loss, absent ankle reflexes; demyelinating polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; 38y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 28y-cataract ABHD12 ABHD12 1 3 Jacopo Celli
00059902 19005174-FamPatIV2 PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009 brother PatIV2 M - Norway Norwegian - 0 - - PHARC 37y-pes cavus from childhood; demyelinating polyneuropathy; 30-ies sensorineural hearing loss; 37y-gait ataxia; brain MR/CT normal; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 37y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 37y-cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059903 19005174-FamPatIV4 PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009 third cousin PatIV4 M - Norway Norwegian - 0 - - PHARC 38y-no pes cavus, sensory loss distally; demyelinating polyneuropathy; childhood sensorineural hearing loss; 43y-gait ataxia, upper limb intention tremor; Cerebellar atrophy; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 46y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 25y-cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059904 20797687-Fam2Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 2.2 M - Norway Norwegian - 0 - - PHARC 53y-pes cavus, normal sensibility, reduced tendon reflexes; 20-ies sensorineural hearing loss; no ataxia; no pyramidal tract signs ; 25y-Retinitis Pigmentosa ; ERG flat; 25y-cataract ABHD12 ABHD12 1 2 Jacopo Celli
00059905 20797687-Fam2Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 2.1 F - Norway Norwegian - 0 - - PHARC 51y-pes cavus, sensory loss, reduced tendon reflexes; demyelinating/axonal polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; Cerebellar atrophy; Extensor plantar response at lower limbs; 35y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 26y-cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059906 20797687-Fam3Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - Norway Norwegian - 0 - - PHARC pes cavus, normal sensibility, reduced tendon reflexes in lower limbs; demyelinating polyneuropathy; 10y-deaf; ataxia; Atrophy of vermis and medulla oblongata; Extensor plantar response at right side; spasticity; 36y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 32y-cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059907 20797687-Fam4Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - Norway Norwegian - 0 - - PHARC pec cavus, hammertoes, reduced tendon reflexes in upper and lower limbs; demyelinating polyneuropathy; late in teens sensorineural hearing loss; no ataxia; Slight ventricular assymmetry.No cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; ERG normal; 15y-cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059908 20797687-Fam5Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - Norway Norwegian - 0 - - PHARC pes cavus, reduced sensibility, reduced tendon reflexes in upper limbs, absent in lower limbs ; demyelinating polyneuropathy; 13y-sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; no Retinitis Pigmentosa; ERG normal; 16y-cataract (slight) ABHD12 ABHD12 1 1 Jacopo Celli
00059909 20797687-Fam8Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 8.2 M - Algeria - - 0 - - PHARC absent tendon reflexes of lower limbs, normal sensibility; no sensorineural hearing loss; 4-5y-gait ataxia; Vermian atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract ABHD12 ABHD12 1 2 Jacopo Celli
00059910 20797687-Fam8Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 8.1 F - Algeria - - 0 - - PHARC absent tendon reflexes, moderate muscle weakness of lower limbs, normal sensibility; no sensorineural hearing loss; 3-4y-limb and gait ataxia, horizontal nystagmus, dysarthria, dysmetria upper and lower limbs; 15m-delayed walking; action and intention tremor ; Cerebellar atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059911 20797687-Fam9Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 9.2 M - Algeria - - 0 - - PHARC pes cavus, sensory loss, reduced tendon reflexes at upper limbs/ absent at lower limbs ; severe demyelinating polyneuropathy; deaf; 4–9y-gait and limb ataxia, horizontal nystagmus, moderate dysarthria, dysmetria at upper and lower limbs ; Vermian atrophy; Extensor plantar response at lower limbs; tongue fasciculations; Retinitis Pigmentosa; cataract; ABHD12 ABHD12 1 2 Jacopo Celli
00059912 20797687-Fam9Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 9.1 F - Algeria - - 0 - - PHARC pes cavus, sensory loss, absent tendon reflexes at lower limbs, scoliosis; demyelinating polyneuropathy; sensorineural hearing loss; 7–10y-gait and limb ataxia, cerebellar dysarthria, dysmetria at upper limbs with adiadocokinesia, head titubation ; Vermian atrophy; Extensor plantar response at lower limbs; macroglossia; amblyopia ABHD12 ABHD12 1 1 Jacopo Celli
00059913 20797687-Fam10Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 10.2 F - Algeria - - 0 - - PHARC 12y-pes cavus, sensory loss, absent tendon reflexes at upper and lower limbs; no sensorineural hearing loss ABHD12 ABHD12 1 2 Jacopo Celli
00059914 20797687-Fam10Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 10.1 F - Algeria - - 0 - - PHARC pes cavus, sensory loss, absent tendon reflexes; severe demyelinating polyneuropathy on nerve biopsy; 6y-sensorineural hearing loss; 6–12y-gait and limb ataxia; brain MR/CT normal; Indifferent plantar response; no Retinitis Pigmentosa; no cataract; ABHD12 ABHD12 1 1 Jacopo Celli
00059915 20797687-Fam11Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - Algeria - - 0 - - PHARC pes cavus, sensory loss and absent tendon reflexes at lower limbs; axonal polyneuropathy; sensorineural hearing loss; 16–20y-gait ataxia, dysarthria, dysmetria at upper limbs; Cerebellar atrophy; Extensor plantar response at lower limbs; decreased visual acuity and amblyopia; no cataract ABHD12 ABHD12 1 1 Jacopo Celli
00059916 20797687-Fam7Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - United States - - 0 - - PHARC 34y-pes cavus, hammertoes, sensibility slightly reduced; abnormal neurography and EMG ; 17y-sensorineural hearing loss; 18y-dysarthria, gait ataxia, jerky eye movements, tremor in hands; Cerebellar atrophy Increased signal in periventricular white matter.; Flexor plantar response; spasticity; preserved reflexes; 20-ies Retinitis Pigmentosa; 22y-cataract; ABHD12 ABHD12 1 1 Jacopo Celli
00151792 15B135 PubMed: Lerat 2017,Journal: Lerat 2017 - M yes France - 36y 0 - no PHARC bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519) ABHD12 ABHD12 1 1 Justine Lerat
00151822 24697911-FamRP-1292PatII4 PubMed: Nishiguchi 2014 2-generation family, 4 affecteds (2F, 2M), unaffected carrier parents, PatII4 F no Spain - - 0 - - PHARC - ABHD12 ABHD12 2 4 Johan den Dunnen
00151823 24697911-FamRP-1292PatII5 PubMed: Nishiguchi 2014 PatII5 M no Spain - - 0 - - PHARC - ABHD12 - 0 1 Johan den Dunnen
00151824 24697911-FamRP-1292PatII6 PubMed: Nishiguchi 2014 PatII6 F no Spain - - 0 - - PHARC - ABHD12 ABHD12 2 1 Johan den Dunnen
00151825 24697911-FamRP-1292PatII7 PubMed: Nishiguchi 2014 PatII7 M no Spain - - 0 - - PHARC - ABHD12 ABHD12 2 1 Johan den Dunnen
00151826 24697911-FamRP-1487PatII2 PubMed: Nishiguchi 2014 2-generation family, 1 affected, unaffected heterozygous father F yes Spain - - 0 - - PHARC - ABHD12 ABHD12 3 1 Johan den Dunnen
00151827 22938382-Fam PubMed: Eisenberger 2012 4-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Lebanon - - 0 - - PHARC see paper; ... ABHD12 ABHD12, ID1, RGS7 3 2 Johan den Dunnen
00151828 25743180-Fam1 PubMed: Yoshimura 2015 2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents M yes Japan - - 0 - - PHARC see paper; ... ABHD12 ABHD12 1 3 Johan den Dunnen
00151829 25743180-Fam2 PubMed: Yoshimura 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Japan - - 0 - - PHARC see paper; ... ABHD12 ABHD12 1 1 Johan den Dunnen
00151830 27890673-FamPatII1 PubMed: Tingaud-Sequeira 2017 3-generation family, 1 affected, unaffected heterozygous carrier parents F no Sweden - - 0 - - PHARC see paper; ... ABHD12 ABHD12, OPA1 2 1 Johan den Dunnen
00174098 - PubMed: Hasselblatt 2014 - F - - - - 0 - - PHARC Malignant rhabdoid tumor of the soft tissue (MRT) / ovary SMARCA4 SMARCA4 1 1 Julia Lopez
00207577 - - 3 generation family, 1 affected (F), unaffected carrier parents F yes Israel Arab (Bedouin) 18y? 0 Yes - PHARC - DNAJA3 DNAJA3 1 1 Abdussalam Azem
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