HARP
MCID: HYP808
MIFTS: 29

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration (HARP)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

MalaCards integrated aliases for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:

Name: Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 57 72 29 6 70
Harp Syndrome 57 36 13 39
Harp 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first or second decade
two unrelated patients have been reported
in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities
allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, )
distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis


HPO:

31
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset slow progression


Classifications:



Summaries for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

KEGG : 36 HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent pre-beta lipoproteins consisting of very-low-density lipoproteins (VLDL).

MalaCards based summary : Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration, also known as harp syndrome, is related to neurodegeneration with brain iron accumulation 1 and abetalipoproteinemia, and has symptoms including muscle spasticity An important gene associated with Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration is PANK2 (Pantothenate Kinase 2), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. Affiliated tissues include eye, brain and globus pallidus, and related phenotypes are spasticity and dysarthria

UniProtKB/Swiss-Prot : 72 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration: Rare syndrome with many clinical similarities to PKAN.

More information from OMIM: 607236

Related Diseases for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Diseases related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 1 11.6
2 abetalipoproteinemia 10.5
3 retinitis pigmentosa 10.5
4 neuroretinitis 10.5
5 retinitis 10.5
6 dystonia 10.5
7 lingual-facial-buccal dyskinesia 10.5
8 schimke immunoosseous dysplasia 10.2
9 arts syndrome 10.0
10 chronic kidney disease 10.0
11 cervix uteri carcinoma in situ 10.0
12 cervical intraepithelial neoplasia 10.0
13 immuno-osseous dysplasia 10.0
14 atherosclerosis susceptibility 9.9
15 anxiety 9.9
16 choreoacanthocytosis 9.9
17 mcleod syndrome 9.9
18 yemenite deaf-blind hypopigmentation syndrome 9.9
19 night blindness 9.9
20 dysphagia 9.9
21 retinal detachment 9.8
22 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
23 leprosy 3 9.8
24 retinitis pigmentosa-deafness syndrome 9.8
25 branchiootic syndrome 1 9.8
26 cervical cancer 9.8
27 usher syndrome, type ig 9.8
28 coronary heart disease 1 9.8
29 proteinuria, chronic benign 9.8
30 usher syndrome 9.8
31 body dysmorphic disorder 9.8
32 persistent hyperplastic primary vitreous 9.8
33 anterior segment dysgenesis 9.8
34 salmonellosis 9.8
35 b-lymphoblastic leukemia/lymphoma 9.8
36 mild cognitive impairment 9.8
37 rapidly involuting congenital hemangioma 9.8
38 endocarditis 9.8
39 corneal edema 9.8
40 brucellosis 9.8
41 respiratory failure 9.8
42 social phobia 9.8
43 polycystic ovary syndrome 9.8
44 blind hypotensive eye 9.8
45 dementia 9.8
46 uveitis 9.8
47 beriberi 9.8
48 generalized anxiety disorder 9.8
49 avoidant personality disorder 9.8
50 personality disorder 9.8

Graphical network of the top 20 diseases related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:



Diseases related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration

Symptoms & Phenotypes for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Human phenotypes related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 dystonia 31 HP:0001332
5 acanthocytosis 31 HP:0001927
6 decreased ldl cholesterol concentration 31 HP:0003563
7 rod-cone dystrophy 31 HP:0000510
8 dementia 31 HP:0000726
9 orofacial dyskinesia 31 HP:0002310
10 eye of the tiger anomaly of globus pallidus 31 HP:0002454
11 pallidal degeneration 31 HP:0007132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
dysphagia
dystonia
orofacial dyskinesia
more
Hematology:
acanthocytes

Head And Neck Eyes:
retinitis pigmentosa

Laboratory Abnormalities:
hypoprebetalipoproteinemia

Clinical features from OMIM®:

607236 (Updated 20-May-2021)

UMLS symptoms related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:


muscle spasticity

Drugs & Therapeutics for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Search Clinical Trials , NIH Clinical Center for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration

Genetic Tests for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Genetic tests related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:

# Genetic test Affiliating Genes
1 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 29 PANK2

Anatomical Context for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

MalaCards organs/tissues related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:

40
Eye, Brain, Globus Pallidus, Heart, Kidney, Ovary, Cervix

Publications for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Articles related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:

# Title Authors PMID Year
1
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. 6 57 61
14638969 2003
2
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. 57 6 61
12058097 2002
3
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). 61 6 57
7898702 1995
4
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). 57 6 61
1734303 1992
5
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 6
12510040 2003
6
A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome. 61
32654475 2020
7
[Neuroacanthocytosis update]. 61
18567359 2008
8
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. 61
16962235 2006
9
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 61
8866438 1996

Variations for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

ClinVar genetic disease variations for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PANK2 NM_153638.3(PANK2):c.1441C>T (p.Arg481Ter) SNV Pathogenic 4557 rs137852968 GRCh37: 20:3897602-3897602
GRCh38: 20:3916955-3916955
2 PANK2 NM_024960.6(PANK2):c.437T>C (p.Met146Thr) SNV Pathogenic 4558 rs28939088 GRCh37: 20:3893179-3893179
GRCh38: 20:3912532-3912532
3 PANK2 NM_024960.6(PANK2):c.540-1G>T SNV Pathogenic 4559 rs148987163 GRCh37: 20:3897573-3897573
GRCh38: 20:3916926-3916926
4 PANK2 NM_153638.3(PANK2):c.1561G>A (p.Gly521Arg) SNV Pathogenic 4548 rs137852959 GRCh37: 20:3899342-3899342
GRCh38: 20:3918695-3918695
5 PANK2 NM_153638.3(PANK2):c.1583C>T (p.Thr528Met) SNV Pathogenic 4556 rs137852967 GRCh37: 20:3899364-3899364
GRCh38: 20:3918717-3918717
6 PANK2 NM_153638.3(PANK2):c.894G>A (p.Met298Ile) SNV Pathogenic 374126 rs1057518915 GRCh37: 20:3888838-3888838
GRCh38: 20:3908191-3908191
7 PANK2 NM_153638.3(PANK2):c.1069C>T (p.Arg357Trp) SNV Pathogenic 374127 rs753376100 GRCh37: 20:3891311-3891311
GRCh38: 20:3910664-3910664
8 PANK2 NM_024960.6(PANK2):c.-246+701_-246+708del Deletion Pathogenic 504213 rs755653150 GRCh37: 20:3870251-3870258
GRCh38: 20:3889604-3889611
9 PANK2 NM_001386393.1(PANK2):c.238T>A (p.Tyr80Asn) SNV Uncertain significance 1032508 GRCh37: 20:3870315-3870315
GRCh38: 20:3889668-3889668
10 PANK2 NM_001386393.1(PANK2):c.767C>T (p.Pro256Leu) SNV Uncertain significance 1030293 GRCh37: 20:3891339-3891339
GRCh38: 20:3910692-3910692
11 PANK2 NM_153638.3(PANK2):c.1442G>C (p.Arg481Pro) SNV Uncertain significance 587442 rs1241995212 GRCh37: 20:3897603-3897603
GRCh38: 20:3916956-3916956
12 PANK2 NM_153638.3(PANK2):c.1709C>T (p.Pro570Leu) SNV Uncertain significance 570102 rs41279408 GRCh37: 20:3903937-3903937
GRCh38: 20:3923290-3923290

Expression for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Search GEO for disease gene expression data for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration.

Pathways for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Pathways related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration according to KEGG:

36
# Name Kegg Source Accession
1 Pantothenate and CoA biosynthesis hsa00770

GO Terms for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

Sources for Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa,...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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