Gene |
Chromosome |
Location |
Syndrome |
ABCA12 | 2 | q35 | Lamellar ichthyosis | |
ABCA12 | 2 | q35 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
AIRE | 21 | q22.3 | APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | |
ALOX12B | 17 | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
ALOXE3 | 17 | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
AR | 23 | q12 | Androgenetic alopecia | |
AUTS2 | 7 | q11.22 | Early-onset androgenetic alopecia | |
BTD | 3 | p25.1 | Biotinidase deficiency | |
CARD11 | 7 | p22.2 | Atopic dermatitis | |
CARD11 | 7 | p22.2 | Omenn syndrome | |
CASP14 | 19 | p13.12 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
CERS3 | 15 | q26.3 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
COL17A1 | 10 | q25.1 | JEB Junctional epidermolysis bullosa | |
CYP4F22 | 19 | p13.12 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
CYP4F22 | 19 | p13.12 | Lamellar ichthyosis | |
DCAF17 | 2 | q31.1 | Woodhouse-Sakati syndrome with alopecia totalis | |
DCLRE1C | 10 | p13 | Omenn syndrome | |
DSG4 | 18 | q12.1 | Autosomal recessive hypotrichosis | |
DSP | 6 | p24.3 | LAEB lethal acantholytic epidermolysis bullosa | |
ECM1 | 1 | q21.2 | Lipoid proteinosis | |
FGFR1 | 8 | p11.23 | ECCL Encephalocraniocutaneous lipomatosis | |
FLG | 1 | q21.3 | Atopic dermatitis | |
FOXN1 | 17 | q11.2 | T-cell immunodeficiency congenital alopecia and nail dystrophy | |
GJB6 | 13 | q12.11 | Clouston syndrome | |
HLA-B | 6 | p21.33 | SJS/TEN Stevens-Johnson syndrome/toxic epidermal necrolysis | |
HLCS | 21 | q22.13 | Holocarboxylase synthetase deficiency with alopecia | |
HR | 8 | p21.3 | Atrichia with papular lesions | |
HR | 8 | p21.3 | Hypotrichosis 4 | |
HR | 8 | p21.3 | Alopecia universalis congenita (ALUNC) | |
HTRA1 | 10 | q26.13 | Cerebral autosomal recessive arteriopathy (CARASIL) | |
IKBKG | 23 | q28 | Incontinentia pigmenti | |
IL7R | 5 | p13.2 | Omenn syndrome | |
ITGA6 | 2 | q31.1 | EB-PA Epidermolysis bullosa with pyloric atresia | |
ITGB4 | 17 | q25.1 | EB-PA Epidermolysis bullosa with pyloric atresia | |
JUP | 17 | q21.2 | LCEB lethal congenital epidermolysis bullosa | |
KRT14 | 17 | q21.2 | NFJS/DPR Naegeli-Franceschetti-Jadassohn syndrome | |
LAMA3 | 18 | q11.2 | JEB Junctional epidermolysis bullosa | |
LAMB3 | 1 | q32.2 | JEB Junctional epidermolysis bullosa | |
LAMC2 | 1 | q25.3 | JEB Junctional epidermolysis bullosa | |
LIG4 | 13 | q33.3 | Omenn syndrome | |
LIPH | 3 | q27.2 | Autosomal recessive hypotrichosis | |
LIPN | 10 | q23.31 | Lamellar ichthyosis | |
LMNA | 1 | q22 | Hutchinson-Gilford progeria syndrome | |
LPAR6 | 13 | q14.2 | Autosomal recessive hypotrichosis | |
NIPAL4 | 5 | q33.3 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
NIPAL4 | 5 | q33.3 | Lamellar ichthyosis | |
PLEC | 8 | q24.3 | EB-PA Epidermolysis bullosa with pyloric atresia | |
PNPLA1 | 6 | p21.31 | NBCIE Nonbullous congenital ichthyosiform erythroderma | |
RAG1 | 11 | p12 | Omenn syndrome | |
RAG2 | 11 | p12 | Omenn syndrome | |
RBM28 | 7 | q32.1 | Alopecia progressive neurological defects and endocrinopathy (ANE syndrome) | |
RIN2 | 20 | p11.23 | Macrocephaly with alopecia and cutis laxa and scoliosis (MACS syndrome) | |
TGM1 | 14 | q12 | Lamellar ichthyosis | |
VDR | 12 | q13.11 | Hereditary vitamin D-resistant rickets type 2 | |