Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract

General Information (adopted from Orphanet):

Synonyms, Signs: PHARC
Peripheral neuropathy, Fiskerstrand type
PHARC syndrome
Number of Symptoms 28
OrphanetNr: 171848
OMIM Id: 612674
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
 -Rare genetic disease
Rare hereditary disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic retinitis pigmentosa
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 238 / 7739
2
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0000523) Subcapsular cataract 12 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0002936) Distal sensory impairment 96 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0001310) Dysmetria 76 / 7739
9
 (HPO:0001271) Polyneuropathy 56 / 7739
10
 (HPO:0001257) Spasticity 251 / 7739
11
 (HPO:0001347) Hyperreflexia 363 / 7739
12
 (HPO:0002080) Intention tremor 44 / 7739
13
 (HPO:0001265) Hyporeflexia 208 / 7739
14
 (HPO:0003487) Babinski sign 179 / 7739
15
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
16
 (HPO:0001251) Ataxia 413 / 7739
17
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
18
 (HPO:0001761) Pes cavus 225 / 7739
19
 (HPO:0001771) Achilles tendon contracture 27 / 7739
20
 (HPO:0003693) Distal amyotrophy 118 / 7739
21
 (HPO:0003812) Phenotypic variability 129 / 7739
22
 (OMIM) Demyelinating neuropathy 2 / 7739
23
 (HPO:0003677) Slow progression 134 / 7739
24
 (HPO:0003674) Onset 32 / 7739
25
 (OMIM) Distal muscle atrophy due to neurologic disease 1 / 7739
26
 (HPO:0001272) Cerebellar atrophy 197 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (OMIM) Normal serum phytanic and pristanic acid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fiskerstrand et al. (2009) reported a consanguineous Norwegian family in which 3 individuals had a slowly progressive neurologic disorder resembling the clinical features of Refsum disease (266500). The authors suggested naming the disorder PHARC, an acronym that describes ...
Molecular genetics OMIM In 19 persons from 9 families from Norway, United Arab Emirates, United States, and Algeria, with PHARC, Fiskerstrand et al. (2010) identified 4 different homozygous loss-of-function mutations in the ABHD12 gene (613599.0001-613599.0004). Common mutations were found in families ...