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 Autosomal recessive
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.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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
Legend   How to query