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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hailey-Hailey disease
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Accession:DOID:0050429 term browser browse the term
Definition: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.
Synonyms:exact_synonym: BCPM;   HHD;   benign chronic pemphigus;   benign familial pemphigus;   familial benign chronic pemphigus
 primary_id: MESH:D016506
 alt_id: OMIM:169600;   RDO:0006961
 xref: GARD:6559;   NCI:C82865
For additional species annotation, visit the Alliance of Genome Resources.


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Hailey-Hailey disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by OMIM:169600
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial benign pemphigus
OMIM
ClinVar
CTD
PMID:3978039, PMID:10615129, PMID:10767338, PMID:11450592, PMID:11874499, PMID:15545997, PMID:16621454, PMID:20338123, PMID:21883398, PMID:25741868, PMID:28492532 NCBI chr 8:113,953,959...114,039,965
Ensembl chr 8:113,955,647...114,013,623
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      skin disease 2749
        Genetic Skin Diseases 887
          Hailey-Hailey disease 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            vesiculobullous skin disease 117
              bullous skin disease 20
                pemphigus 13
                  Hailey-Hailey disease 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.