All individuals with variants in gene ABHD12

40 entries on 1 page. Showing entries 1 - 40.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

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; ... 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; 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; 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 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 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 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 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 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 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 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 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) 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 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 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; 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 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 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; 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 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; 1 1 Jacopo Celli
00080792 24697911-FamW08-1833PatII1 PubMed: Nishiguchi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - 0 - - COD cone dystrophy 2 1 Lonneke Haer-Wigman
00100101 PKRD185;61185 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - F yes Pakistan Pakistani - 0 - - retinal disease RP, deafness 1 1 James Hejtmancik
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) 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 - 2 4 Johan den Dunnen
00151824 24697911-FamRP-1292PatII6 PubMed: Nishiguchi 2014 PatII6 F no Spain - - 0 - - PHARC - 2 1 Johan den Dunnen
00151825 24697911-FamRP-1292PatII7 PubMed: Nishiguchi 2014 PatII7 M no Spain - - 0 - - PHARC - 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 - 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; ... 1 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; ... 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; ... 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; ... 1 1 Johan den Dunnen
00292899 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 136 Mohammed Faruq
00292900 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00304848 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00308597 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328247 G008991 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - 0 - - retinal disease - 1 1 -
00328292 W000163 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - 0 - - retinal disease - 1 1 -
00331625 19676 PubMed: Sun 2018 sporadic case - no China - - 0 - - HL severe hearing loss 2 1 -
00333806 2 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - retinal disease clinical category IA1a 1 1 -
00335080 5085 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - ? 5y-diagnosis visual impairment 2 1 -
Legend   How to query