lethal congenital glycogen storage disease of heart
type: Thing
description: glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36
additional property: PropertyValue
  property ID: P31
  value: rare disease
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: glycogen storage disease
additional property: PropertyValue
  property ID: P279
  value: hypertrophic cardiomyopathy
additional property: PropertyValue
  property ID: P279
  value: glycogen storage disease with hypertrophic cardiomyopathy
additional property: PropertyValue
  property ID: P486
  value: C564888
additional property: PropertyValue
  property ID: P492
  value: 261740
additional property: PropertyValue
  property ID: P665
  value: H01956
additional property: PropertyValue
  property ID: P699
  value: DOID:0090101
additional property: PropertyValue
  property ID: P1550
  value: 439854
additional property: PropertyValue
  property ID: P1995
  value: neurology
additional property: PropertyValue
  property ID: P2293
  value: PRKAG2
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0090101
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0090101
additional property: PropertyValue
  property ID: P2892
  value: C1849813
additional property: PropertyValue
  property ID: P4229
  value: G73.6*
additional property: PropertyValue
  property ID: P4229
  value: E74.0+
additional property: PropertyValue
  property ID: P4317
  value: 10728
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0009867
additional property: PropertyValue
  property ID: P11430
  value: DI-01676
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 6
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 6
  monthly pageviews: 0
  yearly pageviews: 0
  tier: established
claims:
  P31:
    value: Q929833
    source count: 0
    confidence: 0.0
    value label: rare disease
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q1421738
    source count: 1
    confidence: 0.2
    value label: glycogen storage disease
  P279:
    value: Q1364270
    source count: 0
    confidence: 0.0
    value label: hypertrophic cardiomyopathy
  P279:
    value: Q55786141
    source count: 1
    confidence: 0.2
    value label: glycogen storage disease with hypertrophic cardiomyopathy
  P279:
    value: Q200779
    source count: 1
    confidence: 0.2
    value label: genetic disease
  P486:
    value: C564888
    source count: 1
    confidence: 0.2
  P492:
    value: 261740
    source count: 1
    confidence: 0.2
  P665:
    value: H01956
    source count: 0
    confidence: 0.0
  P699:
    value: DOID:0090101
    source count: 1
    confidence: 0.2
  P1550:
    value: 439854
    source count: 1
    confidence: 0.2
  P1995:
    value: Q83042
    source count: 0
    confidence: 0.0
    value label: neurology
  P2293:
    value: Q18040277
    source count: 3
    confidence: 0.6
    value label: PRKAG2
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0090101
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0090101
    source count: 1
    confidence: 0.2
  P2892:
    value: C1849813
    source count: 1
    confidence: 0.2
  P4229:
    value: G73.6*
    source count: 2
    confidence: 0.4
  P4229:
    value: E74.0+
    source count: 2
    confidence: 0.4
  P4317:
    value: 10728
    source count: 1
    confidence: 0.2
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0009867
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-01676
    source count: 0
    confidence: 0.0
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2020-11-30
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: When self-determination runs amok
  stated in qid: Q44308640

wikidata id: Q30988797
domain: rare_disease
level: standard
html url: https://4ort.xyz/entity/lethal-congenital-glycogen-storage-disease-of-heart
markdown url: https://4ort.xyz/entity/lethal-congenital-glycogen-storage-disease-of-heart.md
facts url summary: https://4ort.xyz/entity/lethal-congenital-glycogen-storage-disease-of-heart/facts.json
facts url standard: https://4ort.xyz/entity/lethal-congenital-glycogen-storage-disease-of-heart/facts.json
facts url full: https://4ort.xyz/entity/lethal-congenital-glycogen-storage-disease-of-heart/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-01T08:15:40.815573Z
entity updated at: 2026-05-03T21:19:00.258443+00:00Z
entity created at: 2026-05-03T14:42:43.526958+00:00Z