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Details
Link-It Detail - Disease - Pemphigus, Benign Familial
Debug Stats
  • ### Total Build Time: 26 ms 28.012 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 662 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1,006 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.131 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 10.072 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 10.459 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pemphigus, Benign Familial C0085106
Definition (1)
An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Skin Diseases, Vesiculobullous C0037275
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Vesiculobullous C0037275
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
Relationships (20)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 12
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 6
alias_​of : 1
associated_​with : 3
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
location_​of : 1
manifestation_​of : 6
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_CHEM26img Ca(2+)-Transporting ATPase C0001476
DISO_to_CHEM24img Ca(2+)-Transporting ATPase C0001476
DISO_to_PHYS10img Mutation C0026882
DISO_to_CHEM8img Tacrolimus C0085149
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOassociated_withimg Blister C0005758
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ATPase, Ca(2+)-transporting, type 2C, member 1 gene (ATP2C1, 604384.0001) C1868505
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOmanifestation_ofimg Erythema C0041834
DISO_to_DISOalias_ofimg Familial benign pemphigus C0085106
DISO_to_DISOmanifestation_ofimg Lesions provoked by friction, sun exposure, heat, and injury C1868507
DISO_to_DISOmanifestation_ofimg Onset in third to fourth decade C1868506
DISO_to_DISOmapped_toimg Pemphigus C0030807
DISO_to_DISOmanifestation_ofimg Skin blisters and erosions (neck, perianal, submaxillary, groin, axilla, popliteal fossa) C1868503
DISO_to_DISOmanifestation_ofimg Suprabasal acantholysis C1868504
DISO_to_DISOassociated_withimg Vesicle (morphologic abnormality) C0333262
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanATP2C127032ATPase, Ca++ transporting, type 2C, member 1
img GENERIF, Score=756, Pubmed Id: 14632183, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 16644186, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 18211433, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 11841554, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 18259764, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 16540292, UMLKSK CUI: C0085106
img GENERIF, Score=717, Pubmed Id: 18372165, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 16297192, UMLKSK CUI: C0085106
img GENERIF, Score=717, Pubmed Id: 15191544, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 17503064, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 15955096, UMLKSK CUI: C0085106
img GENERIF, Score=861, Pubmed Id: 15545997, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 15336968, UMLKSK CUI: C0085106
img GENERIF, Score=1000, Pubmed Id: 11966689, UMLKSK CUI: C0085106
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085106Pemphigus, Benign Familial0self