Familial dysautonomia [DS:H01987]
Congenital pain insensitivity with anhidrosis [DS:H01836]
Hereditary sensory neuropathy (HSN)
Hereditary sensory neuropathy with spastic paraplegia [DS:H02380]

Verpoorten N, De Jonghe P, Timmerman V

Disease mechanisms in hereditary sensory and autonomic neuropathies.

Neurobiol Dis 21:247-55 (2006)
DOI:10.1016/j.nbd.2005.08.004

Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR

Molecular genetics of hereditary sensory neuropathies.

Neuromolecular Med 8:147-58 (2006)
DOI:10.1385/NMM:8:1:147

Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Loscher W, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

Am J Hum Genet 87:513-22 (2010)
DOI:10.1016/j.ajhg.2010.09.010

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Nat Genet 41:1179-81 (2009)
DOI:10.1038/ng.464

Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Am J Hum Genet 89:219-30 (2011)
DOI:10.1016/j.ajhg.2011.06.013

Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG

An SCN9A channelopathy causes congenital inability to experience pain.

Nature 444:894-8 (2006)
DOI:10.1038/nature05413

Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Ann Neurol 71:569-72 (2012)
DOI:10.1002/ana.23524

Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Eur J Hum Genet 23:561-3 (2015)
DOI:10.1038/ejhg.2014.166

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J

Transcriptional regulator PRDM12 is essential for human pain perception.

Nat Genet 47:803-8 (2015)
DOI:10.1038/ng.3308

Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Am J Hum Genet 91:1065-72 (2012)
DOI:10.1016/j.ajhg.2012.09.015

Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

Am J Hum Genet 88:99-105 (2011)
DOI:10.1016/j.ajhg.2010.12.003

Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

Nat Genet 43:595-600 (2011)
DOI:10.1038/ng.830

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A, Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Brain 137:683-92 (2014)
DOI:10.1093/brain/awt357

Epidermolysis bullosa, hemidesmosomal [DS:H00585]

Epidermolysis bullosa [DS:H01737]

Fine JD

Inherited epidermolysis bullosa: recent basic and clinical advances.

Curr Opin Pediatr 22:453-8 (2010)
DOI:10.1097/MOP.0b013e32833bb74f

Fine JD

Inherited epidermolysis bullosa: past, present, and future.

Ann N Y Acad Sci 1194:213-22 (2010)
DOI:10.1111/j.1749-6632.2010.05463.x

Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.

J Invest Dermatol 136:1897-1901 (2016)
DOI:10.1016/j.jid.2016.05.106

Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

J Invest Dermatol 136:719-721 (2016)
DOI:10.1016/j.jid.2015.11.024

Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of  autosomal recessive epidermolysis bullosa simplex.

J Invest Dermatol 130:1551-7 (2010)
DOI:10.1038/jid.2010.19

McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

Am J Hum Genet 91:1115-21 (2012)
DOI:10.1016/j.ajhg.2012.10.012

Gostynska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castanon MJ, Wiche G, Jonkman MF

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

Hum Mol Genet 24:3155-62 (2015)
DOI:10.1093/hmg/ddv066

Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

Nat Genet 48:1508-1516 (2016)
DOI:10.1038/ng.3701

Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.

Blood 104:2217-23 (2004)
DOI:10.1182/blood-2004-04-1512