GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Select a RGD Category for details 

RGDs registry under the 'Skin disorders'
S.No.  Genetic Disorders Aliases Sub-Category Gene symbol  Links Indian
context
1 Brooke-Spiegler syndrome •CYLD cutaneous syndrome
 Skin tumor or hamartoma CYLD CYLD lysine 63 deubiquitinase
 PubMed Reports
2 Cutis laxa Genetic dermis elastic tissue disorders ATP6V0A2 ATPase H+ transporting V0 subunit a2
LTBP4 latent transforming growth factor beta binding protein 4
EFEMP2 EGF containing fibulin extracellular matrix protein 2
FBLN5 fibulin 5
ATP7A ATPase copper transporting alpha
ELN elastin
ALDH18A1 aldehyde dehydrogenase 18 family member A1
PYCR1 pyrroline-5-carboxylate reductase 1
EFEMP1 EGF containing fibulin extracellular matrix protein 1
LTBP1 latent transforming growth factor beta binding protein 1
GBE1 1,4-alpha-glucan branching enzyme 1
 PubMed Reports
3 Lamellar ichthyosis Ichthyosis  TGM1 transglutaminase 1
ABCA12 ATP binding cassette subfamily A member 12
SLC27A4 solute carrier family 27 member 4
NIPAL4 NIPA like domain containing 4
CYP4F22 cytochrome P450 family 4 subfamily F member 22
ALOX12B arachidonate 12-lipoxygenase, 12R type
CERS3 ceramide synthase 3
PNPLA1 patatin like phospholipase domain containing 1
ALOXE3 arachidonate lipoxygenase 3
 PubMed Reports
4 Becker nevus syndrome •Becker nevus
•Becker's nevus
 Skin tumor or hamartoma ACTB actin beta
 PubMed Reports
5 Netherton syndrome Ichthyosis  SPINK5 serine peptidase inhibitor Kazal type 5
 PubMed Reports
6 Ectodermal dysplasia Genodermatosis (disorder) NECTIN4 nectin cell adhesion molecule 4
EDARADD EDAR associated via death domain
EDAR ectodysplasin A receptor
IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
NFKBIA NFKB inhibitor alpha
HOXC13 homeobox C13
KRT85 keratin 85
KDF1 keratinocyte differentiation factor 1
KREMEN1 kringle containing transmembrane protein 1
TSPEAR thrombospondin type laminin G domain and EAR repeats
CST6 cystatin E/M
RHOA ras homolog family member A
 PubMed Reports
7 Cutis laxa, X-linked •Occipital horn syndrome
 Collagen and elastic tissue disorders affecting skin ATP7A ATPase copper transporting alpha
 PubMed Reports
8 Pemphigus vulgaris Autoimmune bullous dermatosis  HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-B major histocompatibility complex, class I, B
DSG3 desmoglein 3
ST18 ST18 C2H2C-type zinc finger transcription factor
TNF tumor necrosis factor
 PubMed Reports
9 Prurigo nodularis Skin lesion disorders SEMA3A semaphorin 3A
NGF nerve growth factor
 PubMed Reports
10 Toxic epidermal necrolysis •Stevens-Johnson syndrome
•Dermatostomatitis
 Skin necrosis HLA-B major histocompatibility complex, class I, B
IKZF1 IKAROS family zinc finger 1
 PubMed Reports
11 Vitiligo Hypopigmentation of the skin PTPN2 protein tyrosine phosphatase non-receptor type 2
NLRP1 NLR family pyrin domain containing 1
MTHFR methylenetetrahydrofolate reductase
 PubMed Reports
12 xeroderma pigmentosum Keratosis XPC XPC complex subunit, DNA damage recognition and repair factor
XPA XPA, DNA damage recognition and repair factor
POLH DNA polymerase eta
DDB2 damage specific DNA binding protein 2
ERCC5 ERCC excision repair 5, endonuclease
ERCC4 ERCC excision repair 4, endonuclease catalytic subunit
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit
 PubMed Reports
13 Alopecia universalis congenita •Universal alopecia
•Alopecia areata
 Disorder of skin appendage HR HR lysine demethylase and nuclear receptor corepressor
 PubMed Reports
14 ADULT syndrome •Acro-dermato-ungual-lacrimal-tooth syndrome
 Ectodermal dysplasia syndrome TP63 tumor protein p63
 PubMed Reports
15 Behcet disease •Behçet disease
•Behcet syndrome
•Behcet's disease
•Behcet's syndrome
 Skin vascular diseases NOD2 nucleotide binding oligomerization domain containing 2
TNFRSF1A TNF receptor superfamily member 1A
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
ADA2 adenosine deaminase 2
MEFV MEFV innate immunity regulator, pyrin
 PubMed Reports
16 CLOVES syndrome •Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi
•CLOVE Syndrome
 Melanocytic nevus PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase regulatory subunit 1
 PubMed Reports
17 Multiple fibrofolliculomas •Birt-Hogg-Dubé syndrome
•BHD syndrome
•Birt-Hogg-Dube syndrome
 Disorder of skin appendage FLCN folliculin
 PubMed Reports
18 Bloom syndrome •BSyn
•Bloom-Torre-Machacek syndrome
 Hereditary photodermatosis BLM BLM RecQ like helicase
 PubMed Reports
19 Blue rubber bleb nevus •Bean syndrome
•BRBN
•Blue Rubber Bleb Nevus Syndrome
 Skin vascular diseases GLMN glomulin, FKBP associated protein
 PubMed Reports
20 CEDNIK syndrome •Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
 Keratosis SNAP29 synaptosome associated protein 29
 PubMed Reports
21 Child syndrome •Congenital hemidysplasia with ichthyosiform nevus and limbs defects
•CHILD nevus
 Melanocytic nevus NSDHL NAD(P) dependent steroid dehydrogenase-like
 PubMed Reports
22 Focal dermal hypoplasia •Goltz syndrome
•Goltz Gorlin syndrome
 Ectodermal dysplasia syndrome PORCN porcupine O-acyltransferase
 PubMed Reports
23 Epidermodysplasia verruciformis •Lewandowsky-Lutz syndrome
 TMC8 transmembrane channel like 8
TMC6 transmembrane channel like 6
CIB1 calcium and integrin binding 1
 PubMed Reports
24 H syndrome •Histiocytosis-lymphadenopathy plus syndrome
•Asrar Facharzt Haque syndrome
•Faisalabad histiocytosis
 Hyperpigmentation of the skin SLC29A3 solute carrier family 29 member 3
 PubMed Reports
25 Haim-Munk syndrome •Keratosis palmoplantaris with periodontopathia and onychogryposis
•Papillon-Lefèvre syndrome
•Cochin Jewish disorder
 Keratosis CTSC cathepsin C
 PubMed Reports
26 Autosomal recessive congenital ichthyosis 4B •Harlequin ichthyosis
•Ichthyosis congenita
•Harlequin type
 Ichthyosis  ABCA12 ATP binding cassette subfamily A member 12
 PubMed Reports
27 Cutaneous porphyria •Congenital erythropoietic porphyria
•Günther disease
 Hereditary photodermatosis UROS uroporphyrinogen III synthase
 PubMed Reports
28 Keratosis follicularis •Darier disease
•Darier-White Disease
 Epidermal diseases ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
MBTPS2 membrane bound transcription factor peptidase, site 2
 PubMed Reports
29 Dowling-Degos disease •Reticular pigment anomaly of flexures
 Hyperpigmentation of the skin KRT5 keratin 5
POFUT1 protein O-fucosyltransferase 1
POGLUT1 protein O-glucosyltransferase 1
 PubMed Reports
30 Dubowitz syndrome •Dwarfism-eczema-peculiar facies syndrome
•Dubowitz's syndrome
 Ectodermal dysplasia syndrome NSUN2 NOP2/Sun RNA methyltransferase 2
 PubMed Reports
31 Dyskeratosis congenita •Zinsser-Engman-Cole syndrome
•Dyskeratosis congenita, X-linked
•DKC
 Ectodermal dysplasia syndrome NOP10 NOP10 ribonucleoprotein
NHP2 NHP2 ribonucleoprotein
TINF2 TERF1 interacting nuclear factor 2
TERC telomerase RNA component
DKC1 dyskerin pseudouridine synthase 1
TERT telomerase reverse transcriptase
WRAP53 WD repeat containing antisense to TP53
CTC1 CST telomere replication complex component 1
RTEL1 regulator of telomere elongation helicase 1
PARN poly(A)-specific ribonuclease
ACD ACD shelterin complex subunit and telomerase recruitment factor
INPP4A inositol polyphosphate-4-phosphatase type I A
TYMS thymidylate synthetase
DCLRE1B DNA cross-link repair 1B
 PubMed Reports
32 Trichothiodystrophy Ectodermal dysplasia syndrome MPLKIP M-phase specific PLK1 interacting protein
GTF2H5 general transcription factor IIH subunit 5
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit
RNF113A ring finger protein 113A
GTF2E2 general transcription factor IIE subunit 2
TARS1 threonyl-tRNA synthetase 1
AARS1 alanyl-tRNA synthetase 1
 PubMed Reports
33 Acute febrile neutrophilic dermatosis •Sweet Syndrome
•Gomm Button disease
 Disorder of soft tissue MEFV MEFV innate immunity regulator, pyrin
 PubMed Reports
34 Ichthyosis bullosa of Siemens •Superficial epidermolytic ichthyosis
 Blister of skin KRT2 keratin 2
 PubMed Reports
35 Sneddon syndrome •Cerebro-vascular lesions and livedo reticularis
•Idiopathic livedo reticularis with systemic involvement
 Skin vascular diseases ADA2 adenosine deaminase 2
 PubMed Reports
36 Steatocystoma multiplex •Sebocystomatosis
•Multiple sebaceous cysts
•Disseminated sebocystomatosis
 Sebaceous gland disorders KRT17 keratin 17
 PubMed Reports
37 Pseudoxanthoma elasticum •Gronblad Strandberg syndrome
•Autosomal recessive inherited pseudoxanthoma elasticum
 Genetic dermis elastic tissue disorders ABCC6 ATP binding cassette subfamily C member 6
 PubMed Reports
38 Porokeratosis of Mibelli •Porokeratosis, Mibelli
 Epidermal diseases PMVK phosphomevalonate kinase
 PubMed Reports
39 Poikiloderma with neutropenia •Poikiloderma with neutropenia Clericuzio type
 Epidermal diseases USB1 U6 snRNA biogenesis phosphodiesterase 1
 PubMed Reports
40 Piebaldism •Partial albinism
 Hypopigmentation of the skin KIT KIT proto-oncogene, receptor tyrosine kinase
 PubMed Reports
41 Phakomatosis pigmentokeratotica Melanocytic nevus HRAS HRas proto-oncogene, GTPase
 PubMed Reports
42 Pachyonychia congenita Keratosis KRT17 keratin 17
KRT16 keratin 16
KRT6B keratin 6B
KRT6A keratin 6A
 PubMed Reports
43 Acroerythrokeratoderma •Mal de Meleda
•Meleda Disease
•Keratosis palmoplantaris transgradiens of Siemens
 Keratosis SLURP1 secreted LY6/PLAUR domain containing 1
 PubMed Reports
44 Naegeli-Franceschetti-Jadassohn syndrome •Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
•NFJ syndrome
 Ectodermal dysplasia syndrome KRT14 keratin 14
 PubMed Reports
45 Lipomatosis, multiple symmetric •Multiple symmetric lipomatosis
•Madelung disease
•Launois-Bensaude syndrome
•Lipodystrophy, cephalothoracic
•Lipomatosis familial benign cervical
•Benign symmetrical lipomatosis
 MFN2 mitofusin 2
 PubMed Reports
46 Linear nevus sebaceus syndrome •Nevus sebaceus of Jadassohn
•Jadassohn nevus phakomatosis
•Linear nevus sebaceous
•Organoid nevus phakomatosis
•Schimmelpenning syndrome
•Solomon syndrome
•Sebaceous nevus syndrome and hemimegalencephaly
 Melanocytic nevus KRAS KRAS proto-oncogene, GTPase
 PubMed Reports
47 Aplasia cutis congenita •Scalp defect congenital
•Aplasia cutis congenita nonsyndromic
 BMS1 BMS1 ribosome biogenesis factor
 PubMed Reports
48 Familial benign pemphigus •Hailey-Hailey disease
•Hailey Hailey disease
•Familial benign chronic pemphigus
•Benign chronic familial pemphigus of Hailey-Hailey
•Benign Chronic Pemphigus
 Epidermal diseases ATP2C1 ATPase secretory pathway Ca2+ transporting 1
 PubMed Reports
49 Acrodermatitis continua suppurativa of Hallopeau •Acrodermatitis continua of hallopeau
•Interleukin 36 receptor antagonist deficiency
•Psoriasis 14, pustular
 Skin lesion disorders IL36RN interleukin 36 receptor antagonist
 PubMed Reports
50 Cheilitis glandularis Oral soft tissues disorders CAST calpastatin
 PubMed Reports

 
Conceptualized, designed and developed by Dr. Iliyas Rashid
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