Bart–Pumphrey syndrome

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

1 2 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.

Diseases of ion channels

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

Voltage-gated	SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain

Constitutively active	SCNN1B/SCNN1G Liddle's syndrome SCNN1A/SCNN1B/SCNN1G Pseudohypoaldosteronism 1AR

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

TRP channel

TRPC6
- FSGS2
TRPML1
- Mucolipidosis type IV

Connexin

Porin

AQP2
- Nephrogenic diabetes insipidus 2

See also: ion channels

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