Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandIchthyosis (D007057)
Parent Node:
expandSkin Diseases, Genetic (D012873)
..Starting node
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)

       Child Nodes:



 Sister Nodes: 
..expandActinic Prurigo (C566780)
..expandAlbinism (D000417) Child30
..expandAmyloidosis IX (C562643)
..expandAmyloidosis, Cutaneous Bullous (C562644)
..expandAmyloidosis, Primary Cutaneous (C562642)
..expandAnnular Erythema (C562461)
..expandArterial Tortuosity Syndrome (C565942)
..expandAtrophia Maculosa Varioliformis Cutis, Familial (C563349)
..expandBasaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..expandBuschke-Ollendorff syndrome (C537415)
..expandCollagenosis, Familial Reactive Perforating (C565687)
..expandCutis Laxa (D003483) Child17
..expandDarier Disease (D007644) Child7
..expandDermatitis, Atopic (D003876) Child9
..expanddowling-degos disease (C562924)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDyskeratosis Congenita (D019871) Child3
..expandEctodermal Dysplasia (D004476) Child144
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandErythrokeratodermia Variabilis (D056266) Child3
..expandErythrokeratodermia with ataxia (C535738)
..expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..expandFingerprints, Absence of (C565010)
..expandFollicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..expandGerodermia osteodysplastica (C537799)
..expandHereditary Autoinflammatory Diseases (D056660) Child10
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyalinosis, Systemic (D057770)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis, X-Linked (D016114) Child2
..expandIncontinentia Pigmenti (D007184) Child2
..expandJuvenile Spring Eruption of Ears (C566781)
..expandKeratoderma, Palmoplantar (D007645) Child45
..expandKeratolytic winter erythema (C536155)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandLeukokeratosis, Hereditary Mucosal (D053529)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandLipoid Proteinosis of Urbach and Wiethe (D008065)
..expandMonilethrix (D056734) Child1
..expandMuir-Torre Syndrome (D055653)
..expandNetherton Syndrome (D056770)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOrofaciodigital syndrome 9 (C557818)
..expandOsseous Heteroplasia, Progressive (C562735)
..expandOsteopoikilosis, Isolated (C563484)
..expandParana Hard Skin Syndrome (C564905)
..expandPeeling Skin Syndrome (C564818)
..expandPemphigus, Benign Familial (D016506)
..expandPerifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPlasminogen Deficiency, Type I (C566897)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPorokeratosis (D017499) Child7
..expandPorphyria, Erythropoietic (D017092)
..expandPorphyrias, Hepatic (D017094) Child14
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandStiff Skin Syndrome (C566112)
..expandStorm Syndrome (C566109)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandVitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..expandVohwinkel Syndrome, Variant Form (C565826)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6077
Name:Keratosis Follicularis Spinulosa Decalvans, X-Linked
Definition:
Alternative IDs:OMIM:308800
ParentIDs:MESH:D007057|MESH:D012873|MESH:D040181
TreeNumbers:C16.131.831.512/C536159 |C16.320.322/C536159 |C16.320.850/C536159 |C16.614.492/C536159 |C17.800.428.333/C536159 |C17.800.804.512/C536159 |C17.800.827/C536159
Synonyms:Keratosis follicularis spinulosa decalvans |Keratosis follicularis spinulosa decalvans cum ophiasi |Kfsdx
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease
Reference: MedGen: C536159
MeSH: C536159
OMIM: 308800;

Genes: MBTPS2; SAT1;
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001419X-linked recessive inheritance
3 HP:0001597Abnormality of the nail
4 HP:0000498Blepharitis
5 HP:0000509Conjunctivitis
6 HP:0001131Corneal dystrophy
7 HP:0000958Dry skin
8 HP:0008391Dystrophic fingernails
9 HP:0000656Ectropion
10 HP:0001041Facial erythema
11 HP:0007502Follicular hyperkeratosis
12 HP:0025084Folliculitis
13 HP:0001425Heterogeneous
14 HP:0000491Keratitis
15 HP:0002164Nail dysplasia
16 HP:0000982Palmoplantar keratoderma
17 HP:0030054Perifollicular fibrosis
18 HP:0000613Photophobia
19 HP:0004552Scarring alopecia of scalp
20 HP:0000535Sparse and thin eyebrow
21 HP:0000653Sparse eyelashes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_015884.3(MBTPS2):c.1523A>G (p.Asn508Ser)51360MBTPS2Pathogenic587776867RCV000022848; NMedGen:C0343057,OMIM:308800,ORPHA:2340,SNOMED CT:238626006X2190073621900736NM_015884.3:c.1523A>GNP_056968.1:p.Asn508SerX:g.21900736A>GOMIM Allelic Variant:300294.0006C0343057 308800 Keratosis pilaris decalvans