HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION

General Information (adopted from Orphanet):

Synonyms, Signs: HARP SYNDROME
Number of Symptoms 17
OrphanetNr:
OMIM Id: 607236
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0001332) Dystonia 197 / 7739
3
(HPO:0002015) Dysphagia 301 / 7739
4
(HPO:0000726) Dementia 131 / 7739
5
(HPO:0002310) Orofacial dyskinesia 10 / 7739
6
(HPO:0001260) Dysarthria 329 / 7739
7
(HPO:0001257) Spasticity 251 / 7739
8
(HPO:0001927) Acanthocytosis 11 / 7739
9
(HPO:0003563) Hypobetalipoproteinemia 9 / 7739
10
(HPO:0003621) Juvenile onset 105 / 7739
11
(OMIM) MRI shows decreased signal intensity in the pallidal nuclei with central hyperintensity ('eye of the tiger' sign) 2 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Hypoprebetalipoproteinemia 1 / 7739
14
(OMIM) Iron deposition in pallidal nuclei 1 / 7739
15
(HPO:0002454) Eye of the tiger anomaly of globus pallidus 3 / 7739
16
(HPO:0007132) Pallidal degeneration 3 / 7739
17
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Higgins et al. (1992) described a woman with the combination of hyperprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration. She had demonstrated severe spasticity and dystonia since early childhood. At age 10, she was shown on funduscopic examination to ...
Molecular genetics OMIM Ching et al. (2002) studied the original patient reported by Higgins et al. (1992) and identified an arg371-to-ter (R371X) mutation in the PANK2 gene (606157.0011). This finding established that HARP is part of the PKAN disease spectrum. ...