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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:8767
Name:Pemphigus, Benign Familial
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.
Alternative IDs:OMIM:169600
ParentIDs:MESH:D012872|MESH:D012873
TreeNumbers:C16.320.850.700 |C17.800.827.700 |C17.800.865.858
Synonyms:BCPM |Benign Chronic Pemphigus |Benign Familial Pemphigus |Familial Benign Chronic Pemphigus |Familial Pemphigus, Benign |Hailey Hailey Disease |Hailey-Hailey Disease |HHD |PEMPHIGUS, BENIGN FAMILIAL
Slim Mappings:Genetic disease (inborn)|Skin disease
Reference: MedGen: D016506
MeSH: D016506
OMIM: 169600;

Genes: ATP2C1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0010783Erythema
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001001486.1(ATP2C1):c.910G>A (p.Ala304Thr)27032ATP2C1Pathogenic137853012RCV000005924; NMedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:794680003130682825130682825NM_001001486.1:c.910G>ANP_001001486.1:p.Ala304ThrNC_000003.11:g.130682825G>AOMIM Allelic Variant:604384.0002C0085106 169600 Familial benign pemphigus
NM_001001486.1(ATP2C1):c.1402C>T (p.Arg468Ter)27032ATP2C1Pathogenic137853013RCV000005925; NMedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:794680003130688229130688229NM_001001486.1:c.1402C>TNP_001001486.1:p.Arg468TerNC_000003.11:g.130688229C>TOMIM Allelic Variant:604384.0003C0085106 169600 Familial benign pemphigus
NM_001001486.1(ATP2C1):c.1469G>T (p.Cys490Phe)27032ATP2C1Pathogenic137853014RCV000005928; NMedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:794680003130694231130694231NM_001001486.1:c.1469G>TNP_001001486.1:p.Cys490PheNC_000003.11:g.130694231G>TOMIM Allelic Variant:604384.0006C0085106 169600 Familial benign pemphigus
NM_001001486.1(ATP2C1):c.1751T>C (p.Leu584Pro)27032ATP2C1Pathogenic137853015RCV000005930; NMedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:794680003130699435130699435NM_001001486.1:c.1751T>CNP_001001486.1:p.Leu584ProNC_000003.11:g.130699435T>COMIM Allelic Variant:604384.0008C0085106 169600 Familial benign pemphigus