Hypotrichosis

Alternative name(s) : Human hair growth deficiency, Woolly hair, autosomal recessive 2 with or without hypotrichosis, Hypotrichosis 7, HYPT7, Hypotrichosis simplex, ARWH2, Hypotrichosis, localized, autosomal recessive 2, LAH2, Hypotrichosis, autosomal recessive 2, AH, Hypotrichosis, total MARI Type, WH\/HT, ARWH\/H

Gene_locus : human-LIPH

Mutation : 32 mutations Delexon4_human-LIPH c.346-350delATATA_human-LIPH 90-bp280-369-duplexon2_human-LIPH indel-exon4_human-LIPH Ex7_8del_human-LIPH 1303_1309dupGAAAACG_human-LIPH Q137HfsX1_human-LIPH C246S_human-LIPH H248N_human-LIPH H205R_human-LIPH G152R_human-LIPH I220RfsX29_human-LIPH W108R_human-LIPH Q230X_human-LIPH E366IfsX7_human-LIPH M328SfsX41_human-LIPH L228WfsX_human-LIPH D208MfsX_human-LIPH I220RfsX_human-LIPH M1T_human-LIPH D229GfsX22_human-LIPH R110X_human-LIPH K187X_human-LIPH S60X_human-LIPH R260X_human-LIPH c.982+2T>A\;+7_+21del_human-LIPH P311LfsX3_human-LIPH D207H_human-LIPH c.417+1G>C_human-LIPH C233W_human-LIPH S154D_human-LIPH IVS4-1G>C_human-LIPH

OMIM : 604379 , 607365

Comment
A genetic form of hypotrichosis (deficiency of hair growth) was found linked to a deletion of 985bp covering exon4 of Phospholipase gene (LIPH) human-LIPH (warning: this is not LIPH_HUMAN the hepatic lipase).

References (44)

Title : Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair -
Author(s) : Asano N , Okita T , Yasuno S , Yamaguchi M , Kashiwagi K , Kanekura T , Shimomura Y
Ref : J Dermatol , 46 :e19 , 2019
PubMedID: 29974973
Gene_locus related to this paper: human-LIPH

Title : Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair\/hypotrichosis: Case report and published work review - Mizukami_2018_J.Dermatol_45_613
Author(s) : Mizukami Y , Hayashi R , Tsuruta D , Shimomura Y , Sugawara K
Ref : J Dermatol , 45 :613 , 2018
PubMedID: 29464811
Gene_locus related to this paper: human-LIPH

Title : Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair\/hypotrichosis in consanguineous families - Ahmad_2018_Congenit.Anom.(Kyoto)_58_24
Author(s) : Ahmad F , Sharif S , Furqan Ubaid M , Shah K , Khan MN , Umair M , Azeem Z , Ahmad W
Ref : Congenit Anom (Kyoto) , 58 :24 , 2018
PubMedID: 28425126
Gene_locus related to this paper: human-LIPH

Title : Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan -
Author(s) : Takeichi T , Tanahashi K , Taki T , Kono M , Sugiura K , Akiyama M
Ref : Br J Dermatol , 177 :290 , 2017
PubMedID: 27641630
Gene_locus related to this paper: human-LIPH

Title : Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair\/hypotrichosis (ARWH\/HT) - Chang_2017_Mutagenesis_32_599
Author(s) : Chang XD , Gu YJ , Dai S , Chen XR , Zhang CL , Zhao HS , Song QH
Ref : Mutagenesis , 32 :599 , 2017
PubMedID: 29346610
Gene_locus related to this paper: human-LIPH

Title : Case of autosomal recessive woolly hair\/hypotrichosis with atopic dermatitis -
Author(s) : Itoh E , Nakahara T , Furumura M , Furue M , Shimomura Y
Ref : J Dermatol , 44 :1185 , 2017
PubMedID: 27774676
Gene_locus related to this paper: human-LIPH

Title : Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair\/hypotrichosis with homozygous c.736T>A LIPH mutation - Kinoshita-Ise_2017_Br.J.Dermatol_176_138
Author(s) : Kinoshita-Ise M , Kubo A , Sasaki T , Umegaki-Arao N , Amagai M , Ohyama M
Ref : Br J Dermatol , 176 :138 , 2017
PubMedID: 27375176
Gene_locus related to this paper: human-LIPH

Title : Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair -
Author(s) : Matsuo Y , Tanaka A , Shimomura Y , Hide M
Ref : J Dermatol , 43 :1384 , 2016
PubMedID: 27094727
Gene_locus related to this paper: human-LIPH

Title : Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis - Mehmood_2016_Pediatr.Dermatol_33_e40
Author(s) : Mehmood S , Shah SH , Jan A , Younus M , Ahmad F , Ayub M , Ahmad W
Ref : Pediatr Dermatol , 33 :e40 , 2016
PubMedID: 26645693
Gene_locus related to this paper: human-LIPH

Title : Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair - Mehmood_2015_Australas.J.Dermatol_56_e66
Author(s) : Mehmood S , Jan A , Muhammad D , Ahmad F , Mir H , Younus M , Ali G , Ayub M , Ansar M , Ahmad W
Ref : Australas J Dermatol , 56 :e66 , 2015
PubMedID: 24628704
Gene_locus related to this paper: human-LIPH

Title : Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair\/hypotrichosis -
Author(s) : Sleiman MB , Abbas O , Btadini W , Najjar T , Tofaili M , Chedraoui A , Khalil S , Kibbi AG , Kurban M
Ref : J Dermatol , 42 :822 , 2015
PubMedID: 26046953
Gene_locus related to this paper: human-LIPH

Title : Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations -
Author(s) : Tanahashi K , Sugiura K , Akiyama M
Ref : Br J Dermatol , 173 :865 , 2015
PubMedID: 25819726
Gene_locus related to this paper: human-LIPH

Title : Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair\/hypotrichosis -
Author(s) : Ito T , Shimomura Y , Hayashi R , Tokura Y
Ref : J Dermatol , 42 :752 , 2015
PubMedID: 25899282
Gene_locus related to this paper: human-LIPH

Title : Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient -
Author(s) : Liu LH , Wang JW , Chen G , Chang RX , Zhou Y , Tang HY , Zhu J , Wang PG , Yang S , Zhang XJ
Ref : J Dermatol , 41 :105 , 2014
PubMedID: 24354445

Title : A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia -
Author(s) : Hamada K , Kubo R , Nishio D , Nakamura M
Ref : Eur J Dermatol , 24 :272 , 2014
PubMedID: 24722066
Gene_locus related to this paper: human-LIPH

Title : Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family -
Author(s) : Hayashi R , Akasaka T , Ito M , Shimomura Y
Ref : J Dermatol , 41 :937 , 2014
PubMedID: 25201209

Title : Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair - Hayashi_2014_J.Dermatol_41_890
Author(s) : Hayashi R , Inui S , Farooq M , Ito M , Shimomura Y
Ref : J Dermatol , 41 :890 , 2014
PubMedID: 25271093
Gene_locus related to this paper: human-LIPH

Title : Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair\/hypotrichosis in Japan and the genotype\/phenotype correlations - Tanahashi_2014_PLoS.One_9_e89261
Author(s) : Tanahashi K , Sugiura K , Kono M , Takama H , Hamajima N , Akiyama M
Ref : PLoS ONE , 9 :e89261 , 2014
PubMedID: 24586639
Gene_locus related to this paper: human-LIPH

Title : Mutations in LPAR6\/P2RY5 and LIPH are associated with woolly hair and\/or hypotrichosis - Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545
Author(s) : Kurban M , Wajid M , Shimomura Y , Christiano AM
Ref : J Eur Acad Dermatol Venereol , 27 :545 , 2013
PubMedID: 22385360
Gene_locus related to this paper: human-LIPH

Title : Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood - Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182
Author(s) : Tanahashi K , Sugiura K , Takeichi T , Takama H , Shinkuma S , Shimizu H , Akiyama M
Ref : J Eur Acad Dermatol Venereol , 27 :1182 , 2013
PubMedID: 22449147
Gene_locus related to this paper: human-LIPH

Title : A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1alpha in autosomal recessive wooly hair\/hypotrichosis -
Author(s) : Yoshizawa M , Nakamura M , Farooq M , Inoue A , Aoki J , Shimomura Y
Ref : J Dermatol Sci , 72 :61 , 2013
PubMedID: 23768866
Gene_locus related to this paper: human-LIPH

Title : Two cases of autosomal recessive woolly hair with LIPH gene mutations - Harada_2013_Int.J.Dermatol_52_572
Author(s) : Harada K , Inozume T , Kawamura T , Shibagaki N , Kinoshita T , Deguchi N , Shimada S
Ref : Int J Dermatol , 52 :572 , 2013
PubMedID: 23590372
Gene_locus related to this paper: human-LIPH

Title : A case of autosomal recessive woolly hair\/hypotrichosis with alternation in severity: deterioration and improvement with age - Matsuno_2013_Case.Rep.Dermatol_5_363
Author(s) : Matsuno N , Kunisada M , Kanki H , Simomura Y , Nishigori C
Ref : Case Rep Dermatol , 5 :363 , 2013
PubMedID: 24474919
Gene_locus related to this paper: human-LIPH

Title : The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair\/hypotrichosis -
Author(s) : Shinkuma S , Inoue A , Aoki J , Nishie W , Natsuga K , Ujiie H , Nomura T , Abe R , Akiyama M , Shimizu H
Ref : Journal of Investigative Dermatology , 132 :2093 , 2012
PubMedID: 22475755
Gene_locus related to this paper: human-LIPH

Title : A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair - Tariq_2012_Sci.Rep_2_730
Author(s) : Tariq M , Azhar A , Baig SM , Dahl N , Klar J
Ref : Sci Rep , 2 :730 , 2012
PubMedID: 23066499
Gene_locus related to this paper: human-LIPH

Title : Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair - Yoshimasu_2011_J.Dermatol_38_900
Author(s) : Yoshimasu T , Kanazawa N , Kambe N , Nakamura M , Furukawa F
Ref : J Dermatol , 38 :900 , 2011
PubMedID: 21352330
Gene_locus related to this paper: human-LIPH

Title : Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair\/hypotrichosis phenotype - Shah_2011_J.Pak.Med.Assoc_61_1060
Author(s) : Shah SH , Abid A , Shahid S , Khaliq S
Ref : J Pak Med Assoc , 61 :1060 , 2011
PubMedID: 22125978
Gene_locus related to this paper: human-LIPH

Title : A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus) - Diribarne_2011_PLoS.One_6_e19281
Author(s) : Diribarne M , Mata X , Chantry-Darmon C , Vaiman A , Auvinet G , Bouet S , Deretz S , Cribiu EP , de Rochambeau H , Allain D , Guerin G
Ref : PLoS ONE , 6 :e19281 , 2011
PubMedID: 21552526
Gene_locus related to this paper: rabit-LIPH , human-LIPH

Title : Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis\/woolly hair in 17 consanguineous families from Pakistan - Khan_2011_Clin.Exp.Dermatol_36_652
Author(s) : Khan S , Habib R , Mir H , Umm e K , Naz G , Ayub M , Shafique S , Yamin T , Ali N , Basit S , Wasif N , Kamran-ul-Hassan Naqvi S , Ali G , Wali A , Ansar M , Ahmad W
Ref : Clinical & Experimental Dermatologyatol , 36 :652 , 2011
PubMedID: 21426374
Gene_locus related to this paper: human-LIPH

Title : Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis - Shinkuma_2010_Hum.Mutat_31_602
Author(s) : Shinkuma S , Akiyama M , Inoue A , Aoki J , Natsuga K , Nomura T , Arita K , Abe R , Ito K , Nakamura H , Ujiie H , Shibaki A , Suga H , Tsunemi Y , Nishie W , Shimizu H
Ref : Hum Mutat , 31 :602 , 2010
PubMedID: 20213768
Gene_locus related to this paper: human-LIPH

Title : Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families -
Author(s) : Kalsoom UE , Habib R , Khan B , Ali G , Ali N , Ansar M , Ahmad W
Ref : Acta Derm Venereol , 90 :93 , 2010
PubMedID: 20107739
Gene_locus related to this paper: human-LIPH

Title : Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair - Horev_2009_J.Am.Acad.Dermatol_61_813
Author(s) : Horev L , Tosti A , Rosen I , Hershko K , Vincenzi C , Nanova K , Mali A , Potikha T , Zlotogorski A
Ref : J Am Acad Dermatol , 61 :813 , 2009
PubMedID: 19766349
Gene_locus related to this paper: human-LIPH

Title : Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2) - Naz_2009_J.Dermatol.Sci_54_12
Author(s) : Naz G , Khan B , Ali G , Azeem Z , Wali A , Ansar M , Ahmad W
Ref : J Dermatol Sci , 54 :12 , 2009
PubMedID: 19167195
Gene_locus related to this paper: human-LIPH

Title : The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair\/hypotrichosis - Petukhova_2009_Hum.Hered_68_117
Author(s) : Petukhova L , Shimomura Y , Wajid M , Gorroochurn P , Hodge SE , Christiano AM
Ref : Hum Hered , 68 :117 , 2009
PubMedID: 19365138
Gene_locus related to this paper: human-LIPH

Title : In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth - Pasternack_2009_J.Invest.Dermatol_129_2772
Author(s) : Pasternack SM , von Kugelgen I , Muller M , Oji V , Traupe H , Sprecher E , Nothen MM , Janecke AR , Betz RC
Ref : Journal of Investigative Dermatology , 129 :2772 , 2009
PubMedID: 19536142
Gene_locus related to this paper: human-LIPH

Title : Founder mutations in the lipase h gene in families with autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_1927
Author(s) : Shimomura Y , Wajid M , Zlotogorski A , Lee YJ , Rice RH , Christiano AM
Ref : Journal of Investigative Dermatology , 129 :1927 , 2009
PubMedID: 19262606
Gene_locus related to this paper: human-LIPH

Title : Mutations in the lipase H gene underlie autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_622
Author(s) : Shimomura Y , Wajid M , Petukhova L , Shapiro L , Christiano AM
Ref : Journal of Investigative Dermatology , 129 :622 , 2009
PubMedID: 18830268
Gene_locus related to this paper: human-LIPH

Title : A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families - Nahum_2009_Arch.Dermatol.Res_301_391
Author(s) : Nahum S , Pasternack SM , Pforr J , Indelman M , Wollnik B , Bergman R , Nothen MM , Konig A , Khamaysi Z , Betz RC , Sprecher E
Ref : Arch Dermatol Res , 301 :391 , 2009
PubMedID: 18820939
Gene_locus related to this paper: human-LIPH

Title : Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair\/hypotrichosis -
Author(s) : Shimomura Y , Ito M , Christiano AM
Ref : J Dermatol Sci , 56 :205 , 2009
PubMedID: 19892526
Gene_locus related to this paper: human-LIPH

Title : A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2) -
Author(s) : Kamran-ul-Hassan Naqvi S , Raza SI , Naveed AK , John P , Ahmad W
Ref : Br J Dermatol , 160 :194 , 2009
PubMedID: 18795930
Gene_locus related to this paper: human-LIPH

Title : A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2) - Jelani_2008_Clin.Genet_74_184
Author(s) : Jelani M , Wasif N , Ali G , Chishti M , Ahmad W
Ref : Clin Genet , 74 :184 , 2008
PubMedID: 18445047
Gene_locus related to this paper: human-LIPH

Title : A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis - Ali_2007_Hum.Genet_121_319
Author(s) : Ali G , Chishti MS , Raza SI , John P , Ahmad W
Ref : Hum Genet , 121 :319 , 2007
PubMedID: 17333281
Gene_locus related to this paper: human-LIPH

Title : Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH - Kazantseva_2006_Science_314_982
Author(s) : Kazantseva A , Goltsov A , Zinchenko R , Grigorenko AP , Abrukova AV , Moliaka YK , Kirillov AG , Guo Z , Lyle S , Ginter EK , Rogaev EI
Ref : Science , 314 :982 , 2006
PubMedID: 17095700
Gene_locus related to this paper: human-LIPH

Title : Total hypotrichosis: genetic form of alopecia not linked to hairless gene - Rogaev_1999_Lancet_354_1097
Author(s) : Rogaev EI , Zinchenko RA , Dvoryachikov G , Sherbatich T , Ginter EK
Ref : Lancet , 354 :1097 , 1999
PubMedID: 10509509
Gene_locus related to this paper: human-LIPH