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:
expandEctodermal Dysplasia (D004476)
Parent Node:
expandHypohidrosis (D007007)
Parent Node:
expandKeratoderma, Palmoplantar (D007645)
..Starting node
..expandNaegeli syndrome (C538331)

       Child Nodes:



 Sister Nodes: 
..expandAcrokeratoelastoidosis of Costa (C535653)
..expandAlopecia congenita keratosis palmoplantaris (C537050)
..expandBasaran Yilmaz syndrome (C537660)
..expandCardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..expandCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..expandCorneodermatoosseous syndrome (C536444)
..expandFitzsimmons-McLachlan-Gilbert syndrome (C537058)
..expandHyperkeratosis-Hyperpigmentation Syndrome (C564172)
..expandHypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..expandJudge Misch Wright syndrome (C537692)
..expandKeratoderma palmoplantar deafness (C536152)
..expandKeratoderma palmoplantar spastic paralysis (C536153)
..expandKeratoderma, Palmoplantar, Diffuse (D015776) Child7
..expandKeratoderma, Palmoplantar, Norrbotten Recessive Type (C565454)
..expandKeratosis focal palmoplantar gingival (C536157)
..expandKeratosis Palmaris et Plantaris with Clinodactyly (C563646)
..expandKeratosis palmoplantaris papulosa (C536161)
..expandKeratosis palmoplantaris striata 1 (C536162)
..expandKeratosis palmoplantaris striata 3 (C536163)
..expandKeratosis Palmoplantaris Striata II (C565102)
..expandKeratosis palmoplantaris with esophageal cancer (C536164)
..expandKnuckle pads, leuconychia and sensorineural deafness (C537210)
..expandNaegeli syndrome (C538331)
..expandNaxos disease (C538346)
..expandPalmoplantar Hyperkeratosis And True Hermaphroditism (C567165)
..expandPALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..expandPalmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..expandPalmoplantar Keratoderma with Deafness (C580359)
..expandPalmoplantar Keratoderma, Epidermolytic, with Knuckle Pads (C564171)
..expandPapillon-Lefevre Disease (D010214) Child2
..expandPatel Bixler syndrome (C536306)
..expandPorokeratosis punctata palmaris et plantaris (C536338)
..expandPowell Venencie Gordon syndrome (C538358)
..expandSchopf-Schulz-Passarge Syndrome (C565607)
..expandStern Lubinsky Durrie syndrome (C537488)
..expandVohwinkel syndrome (C536457)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7752
Name:Naegeli syndrome
Definition:
Alternative IDs:OMIM:161000
ParentIDs:MESH:D004476|MESH:D007007|MESH:D007645
TreeNumbers:C16.131.077.350/C538331 |C16.131.831.350/C538331 |C16.320.850.250/C538331 |C16.320.850.475/C538331 |C17.800.428.435/C538331 |C17.800.804.350/C538331 |C17.800.827.250/C538331 |C17.800.827.475/C538331 |C17.800.946.370/C538331
Synonyms:Naegeli-Franceschetti-Jadassohn Syndrome |NFJS |NFJ SYNDROME
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: C538331
MeSH: C538331
OMIM: 161000;

Genes: KRT14;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000670Carious teeth
3 HP:0001808Fragile nails
4 HP:0002046Heat intolerance
5 HP:0000966Hypohidrosis
6 HP:0000982Palmoplantar keratoderma
7 HP:0006480Premature loss of teeth
8 HP:0007588Reticular hyperpigmentation
Disease Causing ClinVar Variants