HARP
MCID: HYP808
MIFTS: 28

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

Categories: Genetic 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 58 76 30 6 74
Harp Syndrome 58 38 13 41
Harp 76

Characteristics:

OMIM:

58
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:

33
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration: Rare syndrome with many clinical similarities to PKAN.

MalaCards based summary : Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration, also known as harp syndrome, is related to retinitis pigmentosa 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 are Pantothenate and CoA biosynthesis and MicroRNAs in cancer. Affiliated tissues include eye, prostate and globus pallidus, and related phenotypes are spasticity and dysarthria

Description 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 all 24)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.5 MIR103A2 MIR103B2 PANK2
2 abetalipoproteinemia 10.5
3 leber congenital amaurosis 4 10.5
4 retinitis 10.5
5 neurodegeneration with brain iron accumulation 1 10.1
6 schimke immunoosseous dysplasia 10.1
7 cervical intraepithelial neoplasia 10.1
8 prostate cancer 9.9
9 arts syndrome 9.9
10 stroke, ischemic 9.9
11 prostate cancer, hereditary, 8 9.9
12 anxiety 9.9
13 prostate cancer, hereditary, 6 9.9
14 chronic kidney failure 9.9
15 body dysmorphic disorder 9.9
16 persistent hyperplastic primary vitreous 9.9
17 endocarditis 9.9
18 brucellosis 9.9
19 beriberi 9.9
20 histoplasmosis 9.9
21 kidney disease 9.9
22 mucormycosis 9.9
23 acute respiratory distress syndrome 9.9
24 anterior segment dysgenesis 9.9

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 dysarthria 33 HP:0001260
3 dysphagia 33 HP:0002015
4 dystonia 33 HP:0001332
5 dementia 33 HP:0000726
6 rod-cone dystrophy 33 HP:0000510
7 acanthocytosis 33 HP:0001927
8 orofacial dyskinesia 33 HP:0002310
9 eye of the tiger anomaly of globus pallidus 33 HP:0002454
10 pallidal degeneration 33 HP:0007132
11 decreased ldl cholesterol concentration 33 HP:0003563

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PANK2

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

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

42
Eye, Prostate, Globus Pallidus, Brain

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

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

# Title Authors Year
1
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. ( 12510040 )
2003
2
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. ( 14638969 )
2003
3
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. ( 12058097 )
2002
4
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). ( 7898702 )
1995
5
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). ( 1734303 )
1992

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

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

6 (show all 14)
# 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.1561G> A (p.Gly521Arg) single nucleotide variant Pathogenic rs137852959 GRCh38 Chromosome 20, 3918695: 3918695
3 PANK2 NM_153638.3(PANK2): c.1583C> T (p.Thr528Met) single nucleotide variant Pathogenic rs137852967 GRCh37 Chromosome 20, 3899364: 3899364
4 PANK2 NM_153638.3(PANK2): c.1583C> T (p.Thr528Met) single nucleotide variant Pathogenic rs137852967 GRCh38 Chromosome 20, 3918717: 3918717
5 PANK2 NM_153638.3(PANK2): c.1441C> T (p.Arg481Ter) single nucleotide variant Pathogenic rs137852968 GRCh37 Chromosome 20, 3897602: 3897602
6 PANK2 NM_153638.3(PANK2): c.1441C> T (p.Arg481Ter) single nucleotide variant Pathogenic rs137852968 GRCh38 Chromosome 20, 3916955: 3916955
7 PANK2 NM_153638.3(PANK2): c.1310T> C (p.Met437Thr) single nucleotide variant Pathogenic rs28939088 GRCh37 Chromosome 20, 3893179: 3893179
8 PANK2 NM_153638.3(PANK2): c.1310T> C (p.Met437Thr) single nucleotide variant Pathogenic rs28939088 GRCh38 Chromosome 20, 3912532: 3912532
9 PANK2 NM_153638.3(PANK2): c.1413-1G> T single nucleotide variant Pathogenic rs148987163 GRCh37 Chromosome 20, 3897573: 3897573
10 PANK2 NM_153638.3(PANK2): c.1413-1G> T single nucleotide variant Pathogenic rs148987163 GRCh38 Chromosome 20, 3916926: 3916926
11 PANK2 NM_153638.3(PANK2): c.1709C> T (p.Pro570Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 3903937: 3903937
12 PANK2 NM_153638.3(PANK2): c.1709C> T (p.Pro570Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 3923290: 3923290
13 PANK2 NM_153638.3(PANK2): c.1442G> C (p.Arg481Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 3916956: 3916956
14 PANK2 NM_153638.3(PANK2): c.1442G> C (p.Arg481Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 3897603: 3897603

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:

38
# Name Kegg Source Accession
1 Pantothenate and CoA biosynthesis hsa00770

Pathways related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.1 MIR103A2 MIR103B2

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

Cellular components related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 micro-ribonucleoprotein complex GO:0035068 8.62 MIR103A2 MIR103B2

Biological processes related to Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 8.62 MIR103A2 MIR103B2

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

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