MCID: HYP808
MIFTS: 22

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration

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 57 75 29 6 73
Harp Syndrome 57 13 40
Harp 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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 leber congenital amaurosis 4, 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 MicroRNAs in cancer. Affiliated tissues include eye and globus pallidus, and related phenotypes are rod-cone dystrophy and dementia

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:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 27.9 MIR103A2 MIR103B2 PANK2
2 leber congenital amaurosis 4 10.4
3 retinitis 10.4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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:

41
Eye, Globus Pallidus

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

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

# Title Authors Year
1
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
# 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

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.1 MIR103A2 MIR103B2

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

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

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74 UMLS via Orphanet
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