Kategorie:
PubID
Gen
MIM
23602711 Mutations in ANTXR1 cause GAPO syndrome.
ANTXR1
22512811 A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family.
APCDD1
21549337 Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
BANF1
24172246 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
BCS1L
11544476 Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
CDH3
12754508 Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
CDSN
10662807 Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C.
CTSC
23161670 Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
CYP26C1
9467018 Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome.
DLX3
16439973 Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.
DSG4
11841538 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
DSP
20301291 20301291 Wright JT, Grange DK, Richter MK. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28 [Updated 2014 May 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1112/
EDA
20301291 20301291 Wright JT, Grange DK, Richter MK. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28 [Updated 2014 May 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1112/
EDAR
20301291 20301291 Wright JT, Grange DK, Richter MK. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28 [Updated 2014 May 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1112/
EDARADD
FGF10
FGFR2
10377013 Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a lys650met mutation in fibroblast growth factor receptor 3.
FGFR3
20635335 Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: a new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.
GJA1
11017065 Mutations in GJB6 cause hidrotic ectodermal dysplasia. (Letter)
GJB6
25152456 Mutations in GRHL2 result in an autosomal-recessive ectodermal dysplasia syndrome.
GRHL2
15220921 A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
GTF2H5
23063621 Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
HOXC13
19122663 Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
HR
IFT122
IFT43
23541344 Mutations in KCTD1 cause scalp-ear-nipple syndrome.
KCTD1
KRT14
24714551 Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
KRT74
9402962 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
KRT81
15744029 A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
KRT83
19865094 Mutations in the keratin 85 (KRT86/hHb5) gene underlie pure hair and nail ectodermal dysplasia.
KRT85
9804356 A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.
KRT86
18445047 A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
LIPH
18297070 G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
LPAR6
MPLKIP
11369996 A nonsense mutation in MSX1 causes Witkop syndrome.
MSX1
11559849 Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
NECTIN1
20691405 Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
NECTIN4
18412279 A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
NFKBIA
11179005 Identification of the gene for oral-facial-digital type I syndrome.
OFD1
9295069 Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
PIGL
10951270 Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
PKP1
17546030 Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
PORCN
19684605 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
SHOC2
23246290 Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
SNRPE
12740761 Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
SOX18
18445049 Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
ST14
10535733 Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
TP63
11807863 Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
TRPS1
20691403 Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
TWIST2
19006206 Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
UBR1
22019273 Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
WDR19
20817137 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
WDR35
17847007 Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
WNT10A