Disease Browser
Parent Node: Skin Diseases, Genetic (D012873) ..Starting node .. Leukokeratosis, Hereditary Mucosal (D053529) Child Nodes:
Sister Nodes: ..Actinic Prurigo (C566780) ..Albinism (D000417) 30 ..Amyloidosis IX (C562643) ..Amyloidosis, Cutaneous Bullous (C562644) ..Amyloidosis, Primary Cutaneous (C562642) ..Annular Erythema (C562461) ..Arterial Tortuosity Syndrome (C565942) ..Atrophia Maculosa Varioliformis Cutis, Familial (C563349) ..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284) ..Buschke-Ollendorff syndrome (C537415) ..Collagenosis, Familial Reactive Perforating (C565687) ..Cutis Laxa (D003483) 17 ..Darier Disease (D007644) 7 ..Dermatitis, Atopic (D003876) 9 ..dowling-degos disease (C562924) ..Dyschromatosis universalis hereditaria (C535730) ..Dyschromatosis Universalis Hereditaria 1 (C567273) ..Dyschromatosis Universalis Hereditaria 2 (C567194) ..Dyskeratosis Congenita (D019871) 3 ..Ectodermal Dysplasia (D004476) 144 ..Ehlers-Danlos Syndrome (D004535) 23 ..Epidermolysis Bullosa (D004820) 29 ..Erythrokeratodermia Variabilis (D056266) 3 ..Erythrokeratodermia with ataxia (C535738) ..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309) ..Fingerprints, Absence of (C565010) ..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360) ..Gerodermia osteodysplastica (C537799) ..Hereditary Autoinflammatory Diseases (D056660) 10 ..Histiocytic Dermatoarthritis (C564183) ..Hyalinosis, Systemic (D057770) ..Hyaluronan Metabolism, Defect in (C565742) ..Ichthyosiform Erythroderma, Congenital (D016113) 18 ..Ichthyosis Bullosa of Siemens (D053560) ..Ichthyosis Vulgaris (D016112) 1 ..Ichthyosis, X-Linked (D016114) 2 ..Incontinentia Pigmenti (D007184) 2 ..Juvenile Spring Eruption of Ears (C566781) ..Keratoderma, Palmoplantar (D007645) 45 ..Keratolytic winter erythema (C536155) ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159) ..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600) ..Leukokeratosis, Hereditary Mucosal (D053529) ..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440) ..Lipoid Proteinosis of Urbach and Wiethe (D008065) ..Monilethrix (D056734) 1 ..Muir-Torre Syndrome (D055653) ..Netherton Syndrome (D056770) ..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512) ..Oculotrichodysplasia (C564934) ..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506) ..Orofaciodigital syndrome 9 (C557818) ..Osseous Heteroplasia, Progressive (C562735) ..Osteopoikilosis, Isolated (C563484) ..Parana Hard Skin Syndrome (C564905) ..Peeling Skin Syndrome (C564818) ..Pemphigus, Benign Familial (D016506) ..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486) ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461) ..Plasminogen Deficiency, Type I (C566897) ..Poikiloderma, Hereditary Sclerosing (C562824) ..Porokeratosis (D017499) 7 ..Porphyria, Erythropoietic (D017092) ..Porphyrias, Hepatic (D017094) 14 ..Prolidase Deficiency (D056732) ..Pseudoxanthoma Elasticum (D011561) 2 ..Rothmund-Thomson Syndrome (D011038) 5 ..Sjogren-Larsson Syndrome (D016111) 1 ..Skin Fragility-Woolly Hair Syndrome (C564359) ..Stiff Skin Syndrome (C566112) ..Storm Syndrome (C566109) ..Trichothiodystrophy Syndromes (D054463) 5 ..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739) ..Vohwinkel Syndrome, Variant Form (C565826) ..Xeroderma Pigmentosum (D014983) 16 Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 6399
Name: Leukokeratosis, Hereditary Mucosal
Definition: An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white opalescent tint. Other MUCOSAL TISSUE may also be involved mucosa found in the VAGINA; RECTUM, and NASAL CAVITY may be similarly involved. This form of LEUKOKERATOSIS can be caused by a mutation in the gene for KERATIN 4 and is not considered a PRENEOPLASTIC CONDITION.
Alternative IDs: OMIM:193900
ParentIDs: MESH:D012873
TreeNumbers: C16.320.850.542 |C17.800.827.595
Synonyms: Hereditary Mucosal Leukokeratoses |Hereditary Mucosal Leukokeratosis |Leukokeratoses, Hereditary Mucosal |LEUKOKERATOSIS, HEREDITARY MUCOSAL |Mucosal Leukokeratoses, Hereditary |Mucosal Leukokeratosis, Hereditary |WHITE SPONGE NEVUS 1 |White Sponge Nevus of Can
Slim Mappings: Genetic disease (inborn)|Skin disease
Reference:
MedGen: D053529
MeSH: D053529
OMIM: 193900 ; Genes: KRT4 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_002272.3(KRT4):c.1303G>A (p.Glu435Lys) 3851 KRT4 Pathogenic 62642055 RCV000018422 ; N MedGen:C1721005,OMIM:193900 12 53201471 53201471 NM_002272.3:c.1303G>A NP_002263.3:p.Glu435Lys NC_000012.11:g.53201471C>T OMIM Allelic Variant:123940.0003 C1721005 193900 White sponge nevus of cannon NM_002272.3(KRT4):c.438_440delCAA (p.Asn146del) 3851 KRT4 Pathogenic 587776844 RCV000018420 ; N MedGen:C1721005,OMIM:193900 12 53207403 53207405 NM_002272.3:c.438_440delCAA NP_002263.3:p.Asn146del OMIM Allelic Variant:123940.0001 C1721005 193900 White sponge nevus of cannon NM_002272.3(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) 3851 KRT4 Pathogenic 587776845 RCV000018421 ; N MedGen:C1721005,OMIM:193900 12 53207423 53207424 NM_002272.3:c.419_420insCAA NP_002263.3:p.Gln140delinsHisLys OMIM Allelic Variant:123940.0002 C1721005 193900 White sponge nevus of cannon