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Term:
Hailey-Hailey disease (DOID:0050429)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
pemphigus +     
Absence of Fingerprints  
Acantholysis +  
Actinic Prurigo  
Albinism +   
Annular Erythema 
arterial tortuosity syndrome  
atopic dermatitis +   
atrichia with papular lesions  
Atrophia Maculosa Varioliformis Cutis, Familial 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive congenital ichthyosis +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Blister +   
Bloch-Sulzberger syndrome +   
bullous congenital ichthyosiform erythroderma  
bullous pemphigoid  
bullous skin disease +   
Buschke-Ollendorff Syndrome  
cicatricial pemphigoid  
Collagenosis, Familial Reactive Perforating 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
dermatitis herpetiformis +   
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
Eosinophilic Pustular Folliculitis  
epidermolysis bullosa +   
erythema multiforme +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Gerodermia Osteodysplastica  
Hailey-Hailey disease  
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.
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
Hydroa Vacciniforme +  
ichthyosis vulgaris +   
Isolated Osteopoikilosis 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Linear IgA Bullous Dermatosis 
lipoid proteinosis  
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Oculotrichodysplasia 
orofaciodigital syndrome IX  
palmoplantar keratosis +   
Papular Urticaria 
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
pemphigoid gestationis 
Pemphigus and Fogo Selvagem 
pemphigus vulgaris  
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
pompholyx 
porokeratosis +   
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
pseudoxanthoma elasticum +   
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Rothmund-Thomson syndrome +   
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Stiff Skin Syndrome  
Storm Syndrome 
Systemic Hyalinosis  
Trichothiodystrophy Syndromes +   
Vohwinkel Syndrome, Variant Form  
X-linked ichthyosis +   
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: BCPM ;   Familial Benign Chronic Pemphigus ;   HHD ;   benign chronic pemphigus ;   benign familial pemphigus
Primary IDs: MESH:D016506
Alternate IDs: OMIM:169600 ;   RDO:0006961
Xrefs: GARD:6559
Definition Sources: MESH:D016506, https://rarediseases.org/rare-diseases/hailey-hailey-disease/

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