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:
expandDermatitis, Seborrheic (D012628)
Parent Node:
expandIchthyosis (D007057)
..Starting node
..expandIchthyosis hystrix, Curth Macklin type (C536088)

       Child Nodes:



 Sister Nodes: 
..expandAcquired ichthyosis (C538175)
..expandCamptodactyly-ichthyosis syndrome (C537976)
..expandCataract and congenital ichthyosis (C538281)
..expandDeal Barratt Dillon syndrome (C538206)
..expandDykes Markes Harper syndrome (C535727)
..expandErythrokeratoderma, Reticular (C563781)
..expandGrover's disease (C537306)
..expandHID Syndrome (C566528)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis cheek eyebrow syndrome (C536084)
..expandIchthyosis Exfoliativa (C563978)
..expandIchthyosis follicularis atrichia photophobia syndrome (C536085)
..expandIchthyosis hystrix gravior (C536087)
..expandIchthyosis hystrix, Curth Macklin type (C536088)
..expandIchthyosis prematurity syndrome (C536271)
..expandIchthyosis tapered fingers midline groove up (C536272)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis with hypotrichosis, autosomal recessive (C536273) Child1
..expandICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
..expandIchthyosis, Congenital, Autosomal Recessive, Ichthyin-Related (C567370)
..expandIchthyosis, Congenital, with Trichothiodystrophy (C566643)
..expandIchthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) Child1
..expandIchthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
..expandIchthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..expandIchthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive (C565749)
..expandIchthyosis, Split Hairs, and Amino Aciduria (C565471)
..expandIchthyosis, X-Linked (D016114) Child2
..expandIchthyosis, X-Linked, Complicated (C567443)
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandJagell Holmgren Hofer syndrome (C537364)
..expandKeratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKoone Rizzo Elias syndrome (C537023)
..expandNeu Laxova syndrome (C536405)
..expandOsteosclerosis with Ichthyosis and Fractures (C563483)
..expandRud Syndrome (C535878)
..expandRuzicka Goerz Anton syndrome (C537192)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandStormorken Syndrome (C566108)
..expandTrichodysplasia-Xeroderma (C566032)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5681
Name:Ichthyosis hystrix, Curth Macklin type
Definition:
Alternative IDs:OMIM:146590
ParentIDs:MESH:D007057|MESH:D012628
TreeNumbers:C16.131.831.512/C536088 |C16.614.492/C536088 |C17.800.174.580/C536088 |C17.800.428.333/C536088 |C17.800.794.230/C536088 |C17.800.804.512/C536088 |C17.800.815.580/C536088 |C17.800.859.350/C536088
Synonyms:Curth-Macklin type ichthyosis hystrix |Ichthyosis Hystrix, Curth-Macklin Type |IHCM
Slim Mappings:Congenital abnormality|Infant-newborn disease|Skin disease
Reference: MedGen: C536088
MeSH: C536088
OMIM: 146590;

Genes: KRT1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0008064Ichthyosis
Disease Causing ClinVar Variants