Diseases of the nervous system
Polyneuropathies and other disorders of the peripheral nervous system
Autosomal recessive
20p11.21
PHARC is an extremely rare, slowly-progressive neurologic disorder characterised by peripheral neuropathy and sensorineural hearing loss. Affected individuals also exhibit gait ataxia, spasticity, dysarthria and cerebellar atrophy, as well as ocular anomalies such as subcapsular cataracts, nystagmus, retinitis pigmentosa and optic atrophy.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612674.1.1 | Lebanon | Female | Yes | Yes | Sensorineural hearing impairment; Rod-c... Sensorineural hearing impairment; Rod-cone dystrophy; Cataract; Ataxia  | NM_001042472.3:c.193C>T | Homozygous | Autosomal, Recessive | Eisenberger et al, 2012 | |
| 612674.1.2 | Lebanon | Male | Yes | Yes | Sensorineural hearing impairment; Rod-... Sensorineural hearing impairment; Rod-cone dystrophy; Cataract; Ataxia | NM_001042472.3:c.193C>T | Homozygous | Autosomal, Recessive | Eisenberger et al, 2012 | Brother of 612674.1.... |
| 612674.2.1 | United Arab Emirates | Male | Yes | Motor polyneuropathy; Ataxia; Hearing im... Motor polyneuropathy; Ataxia; Hearing impairment; Rod-cone dystrophy; Cataract | 14 kb Del NC_000020.11:g.25383511_25397601delinsGG | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | ||
| 612674.2.2 | United Arab Emirates | Male | Yes | Demyelinating motor neuropathy; Ataxia; ... Demyelinating motor neuropathy; Ataxia; Hearing impairment; Rod-cone dystrophy; Cataract | 14 kb Del NC_000020.11:g.25383511_25397601delinsGG | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | Relative of 612674.2... | |
| 612674.2.3 | United Arab Emirates | Female | Yes | Motor polyneuropathy; Ataxia; Hearing im... Motor polyneuropathy; Ataxia; Hearing impairment; Cataract | 14 kb Del NC_000020.11:g.25383511_25397601delinsGG | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | Relative of 612674.2... | |
| 612674.3.1 | Algeria | Male | Yes | Areflexia; Lower limb muscle weakness; L... Areflexia; Lower limb muscle weakness; Limb ataxia; Gait ataxia; Horizontal nystagmus; Dysarthria; Dysmetria; Delayed ability to walk; Action tremor; Cerebellar atrophy; Babinski sign | NM_001042472.3:c.846_852dup | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | ||
| 612674.3.2 | Algeria | Female | Yes | Areflexia; Gait ataxia; Cerebellar vermi... Areflexia; Gait ataxia; Cerebellar vermis atrophy; Babinski sign | NM_001042472.3:c.846_852dup | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | Relative of 612674.3... | |
| 612674.4.1 | Algeria | Male | Yes | Pes cavus; Impaired vibratory sensation;... Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Scoliosis; Demyelinating peripheral neuropathy; Hearing impairment; Gait ataxia; Limb ataxia; Dysarthria; Dysmetria; Head titubation; Cerebellar vermis atrophy; Macroglossia; Babinski sign | NM_001042472.3:c.846_852dup | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | ||
| 612674.4.2 | Algeria | Female | Yes | Pes cavus; Impaired vibratory sensation;... Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Demyelinating peripheral neuropathy; Hearing impairment; Gait ataxia; Limb ataxia; Dysarthria; Dysmetria; Horizontal nystagmus; Cerebellar vermis atrophy; Babinski sign; Tongue fasciculations | NM_001042472.3:c.846_852dup | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | Relative of 612674.4... | |
| 612674.5.1 | Algeria | Female | Yes | Pes cavus; Impaired vibratory sensation;... Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Demyelinating peripheral neuropathy; Hearing impairment; Gait ataxia; Limb ataxia | NM_001042472.3:c.846_852dup | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | ||
| 612674.5.2 | Algeria | Female | Yes | Pes cavus; Impaired vibratory sensation;... Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs | NM_001042472.3:c.846_852dup | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 | Relative of 612674.5... | |
| 614674.6 | Algeria | Female | No | Pes cavus; Impaired vibratory sensation;... Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Peripheral axonal neuropathy; Hearing impairment; Gait ataxia; Dysarthria; Dysmetria; Cerebellar atrophy; Babinski sign; Reduced visual acuity; Amblyopia | NM_001042472.3:c.846_852dup | Homozygous | Autosomal, Recessive | Fiskerstrand et al. 2010 |