GenTIGS

RGDs registry under the 'Skin disorders'

Disorder Name (Total=55)	Aliases	Sub-Category	Gene	Indian Reports	Link
Brooke-Spiegler syndrome Autosomal dominant	•CYLD cutaneous syndrome	Skin tumor or hamartoma	CYLD CYLD lysine 63 deubiquitinase	Reports Updated as of Sep 15, 2022	PubMed
Cutis laxa Autosomal dominant, Autosomal recessive, X-linked dominant		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	Reports Updated as of Sep 15, 2022	PubMed
Lamellar ichthyosis Autosomal recessive		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	Reports Updated as of Mar 09, 2023	PubMed
Becker nevus syndrome Somatic mutation	•Becker nevus •Becker's nevus	Skin tumor or hamartoma	ACTB actin beta	Reports Updated as of Mar 09, 2023	PubMed
Netherton syndrome Autosomal recessive		Ichthyosis	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Mar 09, 2023	PubMed
Ectodermal dysplasia Autosomal dominant, Autosomal recessive, X-linked dominant		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	Reports Updated as of Mar 09, 2023	PubMed
Cutis laxa, X-linked X-linked dominant	•Occipital horn syndrome	Collagen and elastic tissue disorders affecting skin	ATP7A ATPase copper transporting alpha	Reports Updated as of Sep 05, 2023	PubMed
Pemphigus vulgaris Autosomal dominant		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	Reports Updated as of Sep 05, 2023	PubMed
Prurigo nodularis		Skin lesion disorders	SEMA3A semaphorin 3A NGF nerve growth factor	Reports Updated as of Sep 05, 2023	PubMed
Toxic epidermal necrolysis	•Stevens-Johnson syndrome •Dermatostomatitis	Skin necrosis	HLA-B major histocompatibility complex, class I, B IKZF1 IKAROS family zinc finger 1	Reports Updated as of Sep 05, 2023	PubMed
Vitiligo		Hypopigmentation of the skin	PTPN2 protein tyrosine phosphatase non-receptor type 2 NLRP1 NLR family pyrin domain containing 1 MTHFR methylenetetrahydrofolate reductase	Reports Updated as of Sep 05, 2023	PubMed
xeroderma pigmentosum Autosomal recessive		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	Reports Updated as of Nov 02, 2023	PubMed
Alopecia universalis congenita Autosomal recessive	•Universal alopecia •Alopecia areata	Disorder of skin appendage	HR HR lysine demethylase and nuclear receptor corepressor	Reports Updated as of Nov 30, 2023	PubMed
ADULT syndrome Autosomal dominant	•Acro-dermato-ungual-lacrimal-tooth syndrome	Ectodermal dysplasia syndrome	TP63 tumor protein p63	Reports Updated as of Nov 30, 2023	PubMed
Behcet disease Autosomal recessive	•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	Reports Updated as of Nov 30, 2023	PubMed
CLOVES syndrome Somatic mosaicism	•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	Reports Updated as of Nov 30, 2023	PubMed
Multiple fibrofolliculomas Autosomal dominant	•Birt-Hogg-Dubé syndrome •BHD syndrome •Birt-Hogg-Dube syndrome	Disorder of skin appendage	FLCN folliculin	Reports Updated as of Nov 30, 2023	PubMed
Bloom syndrome Autosomal recessive	•BSyn •Bloom-Torre-Machacek syndrome	Hereditary photodermatosis	BLM BLM RecQ like helicase	Reports Updated as of Nov 30, 2023	PubMed
Blue rubber bleb nevus Autosomal dominant	•Bean syndrome •BRBN •Blue Rubber Bleb Nevus Syndrome	Skin vascular diseases	GLMN glomulin, FKBP associated protein	Reports Updated as of Nov 30, 2023	PubMed
CEDNIK syndrome Autosomal recessive	•Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	Keratosis	SNAP29 synaptosome associated protein 29	Reports Updated as of Nov 30, 2023	PubMed
Child syndrome X-linked recessive	•Congenital hemidysplasia with ichthyosiform nevus and limbs defects •CHILD nevus	Melanocytic nevus	NSDHL NAD(P) dependent steroid dehydrogenase-like	Reports Updated as of Nov 30, 2023	PubMed
Focal dermal hypoplasia X-linked recessive	•Goltz syndrome •Goltz Gorlin syndrome	Ectodermal dysplasia syndrome	PORCN porcupine O-acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
Epidermodysplasia verruciformis Autosomal recessive	•Lewandowsky-Lutz syndrome	-	TMC8 transmembrane channel like 8 TMC6 transmembrane channel like 6 CIB1 calcium and integrin binding 1	Reports Updated as of Dec 07, 2023	PubMed
H syndrome Autosomal recessive	•Histiocytosis-lymphadenopathy plus syndrome •Asrar Facharzt Haque syndrome •Faisalabad histiocytosis	Hyperpigmentation of the skin	SLC29A3 solute carrier family 29 member 3	Reports Updated as of Dec 07, 2023	PubMed
Haim-Munk syndrome Autosomal recessive	•Keratosis palmoplantaris with periodontopathia and onychogryposis •Papillon-Lefèvre syndrome •Cochin Jewish disorder	Keratosis	CTSC cathepsin C	Reports Updated as of Dec 07, 2023	PubMed
Autosomal recessive congenital ichthyosis 4B Autosomal recessive	•Harlequin ichthyosis •Ichthyosis congenita •Harlequin type	Ichthyosis	ABCA12 ATP binding cassette subfamily A member 12	Reports Updated as of Dec 07, 2023	PubMed
Cutaneous porphyria Autosomal recessive	•Congenital erythropoietic porphyria •Günther disease	Hereditary photodermatosis	UROS uroporphyrinogen III synthase	Reports Updated as of Dec 07, 2023	PubMed
Keratosis follicularis Autosomal dominant	•Darier disease •Darier-White Disease	-	ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 MBTPS2 membrane bound transcription factor peptidase, site 2	Reports Updated as of Dec 07, 2023	PubMed
Dowling-Degos disease Autosomal dominant	•Reticular pigment anomaly of flexures	Hyperpigmentation of the skin	KRT5 keratin 5 POFUT1 protein O-fucosyltransferase 1 POGLUT1 protein O-glucosyltransferase 1	Reports Updated as of Dec 29, 2023	PubMed
Dubowitz syndrome Autosomal recessive	•Dwarfism-eczema-peculiar facies syndrome •Dubowitz's syndrome	Ectodermal dysplasia syndrome	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed
Dyskeratosis congenita Autosomal dominant, Autosomal recessive, X-linked dominant	•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	Reports Updated as of Dec 29, 2023	PubMed
Trichothiodystrophy Autosomal recessive		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	Reports Updated as of Dec 29, 2023	PubMed
Acute febrile neutrophilic dermatosis Autosomal dominant	•Sweet Syndrome •Gomm Button disease	Disorder of soft tissue	MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Dec 29, 2023	PubMed
Ichthyosis bullosa of Siemens Autosomal dominant	•Superficial epidermolytic ichthyosis	Blister of skin	KRT2 keratin 2	Reports Updated as of Dec 29, 2023	PubMed
Sneddon syndrome Autosomal recessive	•Cerebro-vascular lesions and livedo reticularis •Idiopathic livedo reticularis with systemic involvement	Skin vascular diseases	ADA2 adenosine deaminase 2	Reports Updated as of Dec 29, 2023	PubMed
Steatocystoma multiplex Autosomal dominant	•Sebocystomatosis •Multiple sebaceous cysts •Disseminated sebocystomatosis	Sebaceous gland disorders	KRT17 keratin 17	Reports Updated as of Dec 29, 2023	PubMed
Pseudoxanthoma elasticum Autosomal recessive	•Gronblad Strandberg syndrome •Autosomal recessive inherited pseudoxanthoma elasticum	Genetic dermis elastic tissue disorders	ABCC6 ATP binding cassette subfamily C member 6	Reports Updated as of Jan 04, 2024	PubMed
Porokeratosis of Mibelli Autosomal dominant	•Porokeratosis, Mibelli	Epidermal diseases	PMVK phosphomevalonate kinase	Reports Updated as of Jan 04, 2024	PubMed
Poikiloderma with neutropenia Autosomal recessive	•Poikiloderma with neutropenia Clericuzio type	Epidermal diseases	USB1 U6 snRNA biogenesis phosphodiesterase 1	Reports Updated as of Jan 04, 2024	PubMed
Piebaldism Autosomal dominant	•Partial albinism	Hypopigmentation of the skin	KIT KIT proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed
Phakomatosis pigmentokeratotica		Melanocytic nevus	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Jan 04, 2024	PubMed
Pachyonychia congenita Autosomal dominant		Keratosis	KRT17 keratin 17 KRT16 keratin 16 KRT6B keratin 6B KRT6A keratin 6A	Reports Updated as of Jan 04, 2024	PubMed
Acroerythrokeratoderma Autosomal recessive	•Mal de Meleda •Meleda Disease •Keratosis palmoplantaris transgradiens of Siemens	Keratosis	SLURP1 secreted LY6/PLAUR domain containing 1	Reports Updated as of Jan 04, 2024	PubMed
Naegeli-Franceschetti-Jadassohn syndrome Autosomal dominant	•Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy •NFJ syndrome	Ectodermal dysplasia syndrome	KRT14 keratin 14	Reports Updated as of Feb 01, 2024	PubMed
Lipomatosis, multiple symmetric Autosomal dominant, Autosomal recessive, MT inheritance	•Multiple symmetric lipomatosis •Madelung disease •Launois-Bensaude syndrome •Lipodystrophy, cephalothoracic •Lipomatosis familial benign cervical •Benign symmetrical lipomatosis	-	MFN2 mitofusin 2	Reports Updated as of Jan 04, 2024	PubMed
Linear nevus sebaceus syndrome Somatic mosaicism	•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	Reports Updated as of Jan 04, 2024	PubMed
Aplasia cutis congenita Autosomal dominant	•Scalp defect congenital •Aplasia cutis congenita nonsyndromic	-	BMS1 BMS1 ribosome biogenesis factor	Reports Updated as of Feb 01, 2024	PubMed
Familial benign pemphigus Autosomal dominant	•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	Reports Updated as of Jul 20, 2024	PubMed
Acrodermatitis continua suppurativa of Hallopeau Autosomal recessive	•Acrodermatitis continua of hallopeau •Interleukin 36 receptor antagonist deficiency •Psoriasis 14, pustular	Skin lesion disorders	IL36RN interleukin 36 receptor antagonist	Reports Updated as of Jul 20, 2024	PubMed
Cheilitis glandularis Autosomal dominant		Oral soft tissues disorders	CAST calpastatin	Reports Updated as of Jul 20, 2024	PubMed
Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive	•Epidermolysa bullosa simplex and limb girdle muscular dystrophy •EBS-MD •epidermolysis bullosa simplex and limb-girdle muscular dystrophy •epidermolysis bullosa simplex with muscular dystrophy •limb-girdle muscular dystrophy with epidermolysis bullosa simplex	Epidermal diseases	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive	•epidermolysis bullosa simplex with pyloric atresia •EBS-PA •PLEC-Related epidermolysis bullosa with pyloric atresia •PLEC1-Related epidermolysis bullosa with pyloric atresia	Epidermal diseases	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive		Epidermal diseases	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
Acrokeratosis verruciformis of Hopf Autosomal dominant	•Acrokeratosis verruciformis •AKV of Hopf • Hopf disease	Keratosis	ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	Reports Updated as of Feb 04, 2025	PubMed
Ichthyosis linearis circumflexa Autosomal recessive	•-	Ichthyosis	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Feb 26, 2025	PubMed