Aliases & Classifications for Harp Syndrome

MalaCards integrated aliases for Harp Syndrome:

Name: Harp Syndrome 54 24 13
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 24 71 29 69
Harp 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
two unrelated patients have been reported
onset in first or second decade
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:

32
harp syndrome:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Harp Syndrome

UniProtKB/Swiss-Prot : 71 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration: Rare syndrome with many clinical similarities to PKAN.

MalaCards based summary : Harp Syndrome, also known as hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, is related to retinitis pigmentosa and retinitis, and has symptoms including dysphagia, dystonia and dysarthria. An important gene associated with Harp Syndrome is PANK2 (Pantothenate Kinase 2). The drugs Zinc and Iron have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and globus pallidus.

Description from OMIM: 607236

Related Diseases for Harp Syndrome

Diseases related to Harp Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 9.9
2 retinitis 9.9

Symptoms & Phenotypes for Harp Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dysphagia
dystonia
dysarthria
spasticity
orofacial dyskinesia
more
Hematology:
acanthocytes

Head And Neck- Eyes:
retinitis pigmentosa

Laboratory- Abnormalities:
hypoprebetalipoproteinemia


Clinical features from OMIM:

607236

Human phenotypes related to Harp Syndrome:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 dystonia 32 HP:0001332
3 dysarthria 32 HP:0001260
4 spasticity 32 HP:0001257
5 rod-cone dystrophy 32 HP:0000510
6 dementia 32 HP:0000726
7 hypobetalipoproteinemia 32 HP:0003563
8 acanthocytosis 32 HP:0001927
9 orofacial dyskinesia 32 HP:0002310
10 pallidal degeneration 32 HP:0007132
11 eye of the tiger anomaly of globus pallidus 32 HP:0002454

UMLS symptoms related to Harp Syndrome:


muscle spasticity

Drugs & Therapeutics for Harp Syndrome

Drugs for Harp Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved 7440-66-6 32051 23994
2
Iron Approved 7439-89-6 23925
3 Anesthetics
4 Hypoglycemic Agents
5 insulin
6 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Insulin Sensitivity, Irisin and Adipokines as Outcome Parameters in Patients Undergoing Cardiac Surgery Completed NCT02258698
2 Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN) Recruiting NCT01838018
3 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858

Search NIH Clinical Center for Harp Syndrome

Genetic Tests for Harp Syndrome

Genetic tests related to Harp Syndrome:

id Genetic test Affiliating Genes
1 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 29
2 Harp Syndrome 24

Anatomical Context for Harp Syndrome

MalaCards organs/tissues related to Harp Syndrome:

39
Eye, Brain, Globus Pallidus

Publications for Harp Syndrome

Articles related to Harp Syndrome:

id Title Authors Year
1
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. ( 12058097 )
2002
2
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). ( 7898702 )
1995
3
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). ( 1734303 )
1992

Variations for Harp Syndrome

ClinVar genetic disease variations for Harp Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PANK2 NM_153638.3(PANK2): c.1561G> A (p.Gly521Arg) single nucleotide variant Pathogenic rs137852959 GRCh37 Chromosome 20, 3899342: 3899342
2 PANK2 NM_153638.3(PANK2): c.1583C> T (p.Thr528Met) single nucleotide variant Pathogenic rs137852967 GRCh37 Chromosome 20, 3899364: 3899364
3 PANK2 NM_153638.3(PANK2): c.1441C> T (p.Arg481Ter) single nucleotide variant Pathogenic rs137852968 GRCh37 Chromosome 20, 3897602: 3897602
4 PANK2 NM_153638.3(PANK2): c.1310T> C (p.Met437Thr) single nucleotide variant Pathogenic rs28939088 GRCh37 Chromosome 20, 3893179: 3893179
5 PANK2 NM_153638.3(PANK2): c.1413-1G> T single nucleotide variant Pathogenic rs148987163 GRCh37 Chromosome 20, 3897573: 3897573

Expression for Harp Syndrome

Search GEO for disease gene expression data for Harp Syndrome.

Pathways for Harp Syndrome

GO Terms for Harp Syndrome

Sources for Harp Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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