Bart–Pumphrey syndrome

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Bart–Pumphrey syndrome
Classification and external resources
OMIM	149200

Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness"^[1]) is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal and proximal and distal interphalangeal joints.^[1]

It was characterized in 1967.^[2]

It can be associated with GJB2.^[3]

References

^ ^a ^b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ Bart RS, Pumphrey RE (January 1967). "Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome". N. Engl. J. Med. 276 (4): 202–7. doi:10.1056/NEJM196701262760403. PMID 6015974.
^ Richard G, Brown N, Ishida-Yamamoto A, Krol A (November 2004). "Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2". J. Invest. Dermatol. 123 (5): 856–63. doi:10.1111/j.0022-202X.2004.23470.x. PMID 15482471.

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Genetic disorder, membrane: Channelopathy

Calcium channel

Voltage-gated	CACNA1A (Familial hemiplegic migraine 1, Episodic ataxia 2, Spinocerebellar ataxia type-6) · CACNA1C (Timothy syndrome, Brugada syndrome 3, Long QT syndrome 8) · CACNA1F (Ocular albinism 2, CSNB2A) · CACNA1S (Hypokalemic periodic paralysis 1, Thyrotoxic periodic paralysis 1) · CACNB2 (Brugada syndrome 4)

Ligand gated	RYR1 (Malignant hyperthermia, Central core disease) · RYR2 (CPVT1, ARVD2)

Sodium channel

Potassium channel

Voltage-gated	KCNA1 (Episodic ataxia 1) · KCNA5 (Familial atrial fibrillation 7) · KCNC3 (Spinocerebellar ataxia type-13) · KCNE1 (Jervell and Lange-Nielsen syndrome, Long QT syndrome 5) · KCNE2 (Long QT syndrome 6) · KCNE3 (Brugada syndrome 5) · KCNH2 (Short QT syndrome) · KCNQ1 (Jervell and Lange-Nielsen syndrome, Romano-Ward syndrome, Short QT syndrome, Long QT syndrome 1, Familial atrial fibrillation 3) · KCNQ2 (BFNS1}

Inward-rectifier	KCNJ1 (Bartter syndrome 2) · KCNJ2 (Andersen-Tawil syndrome, Long QT syndrome 7, Short QT syndrome) · KCNJ11 (TNDM3) · KCNJ18 (Thyrotoxic periodic paralysis 2)

Chloride channel

CFTR (Cystic fibrosis, Congenital absence of the vas deferens) · CLCN1 (Thomsen disease, Myotonia congenita) · CLCN5 (Dent's disease) · CLCN7 (Osteopetrosis A2, B4 · BEST1 (Vitelliform macular dystrophy) · CLCNKB (Bartter syndrome 3)

TRP channel

TRPC6 (FSGS2) · TRPML1 (Mucolipidosis type IV)

Connexin

GJA1 (Oculodentodigital dysplasia, Hallermann–Streiff syndrome, Hypoplastic left heart syndrome) · GJB1 (Charcot–Marie–Tooth disease X1) · GJB2 (Keratitis–ichthyosis–deafness syndrome, Ichthyosis hystrix, Bart–Pumphrey syndrome, Vohwinkel syndrome) · GJB3/GJB4 (Erythrokeratodermia variabilis, Progressive symmetric erythrokeratodermia) · GJB6 (Clouston's hidrotic ectodermal dysplasia)

Porin

AQP2 (Nephrogenic diabetes insipidus 2)

see also ion channels
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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