MCID: ICH046
MIFTS: 26

Ichthyosis Histrix, Curth-Macklin Type malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Histrix, Curth-Macklin Type

About this section
Sources:
50OMIM, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 46NIH Rare Diseases, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ichthyosis Histrix, Curth-Macklin Type:

Name: Ichthyosis Histrix, Curth-Macklin Type 50 12
Ichthyosis Hystrix, Curth-Macklin Type 50 52 68
Ichthyosis Hystrix, Curth Macklin Type 46 66
 
Ichthyosis Hystrix of Curth-Macklin 52 25
Ihcm 46 68
Curth-Macklin Type Ichthyosis Hystrix 46

Characteristics:

Orphanet epidemiological data:

52
ichthyosis hystrix, curth-macklin type:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
ichthyosis histrix, curth-macklin type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 146590
Orphanet52 ORPHA79503
ICD10 via Orphanet29 Q80.8
MESH via Orphanet38 C536088
UMLS via Orphanet67 C0432307, C1840296
MedGen35 C1840296
MeSH37 D007057

Summaries for Ichthyosis Histrix, Curth-Macklin Type

About this section
OMIM:50 Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization were known to have a structural defect of... (146590) more...

MalaCards based summary: Ichthyosis Histrix, Curth-Macklin Type, also known as ichthyosis hystrix, curth-macklin type, is related to palmoplantar keratoderma, nonepidermolytic and white sponge nevus 1, and has symptoms including hyperkeratosis, ichthyosis and skin ulcer. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin.

UniProtKB/Swiss-Prot:68 Ichthyosis hystrix, Curth-Macklin type: A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks.

Related Diseases for Ichthyosis Histrix, Curth-Macklin Type

About this section

Graphical network of diseases related to Ichthyosis Histrix, Curth-Macklin Type:



Diseases related to ichthyosis histrix, curth-macklin type

Symptoms for Ichthyosis Histrix, Curth-Macklin Type

About this section

Symptoms by clinical synopsis from OMIM:

146590

Clinical features from OMIM:

146590

Symptoms:

 52 (show all 8)
  • hyperkeratosis
  • flexion contracture
  • recurrent skin infections
  • diffuse palmoplantar keratoderma
  • autoamputation of digits
  • ichthyosis
  • nail dystrophy
  • bleeding with minor or no trauma

HPO human phenotypes related to Ichthyosis Histrix, Curth-Macklin Type:

(show all 8)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 ichthyosis hallmark (90%) HP:0008064
3 skin ulcer hallmark (90%) HP:0200042
4 abnormality of the fingernails typical (50%) HP:0001231
5 flexion contracture typical (50%) HP:0001371
6 gangrene occasional (7.5%) HP:0100758
7 abnormality of metabolism/homeostasis HP:0001939
8 ichthyosis HP:0008064

Drugs & Therapeutics for Ichthyosis Histrix, Curth-Macklin Type

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ichthyosis Histrix, Curth-Macklin Type

Genetic Tests for Ichthyosis Histrix, Curth-Macklin Type

About this section

Genetic tests related to Ichthyosis Histrix, Curth-Macklin Type:

id Genetic test Affiliating Genes
1 Ichthyosis Hystrix, Curth Macklin Type25

Anatomical Context for Ichthyosis Histrix, Curth-Macklin Type

About this section

MalaCards organs/tissues related to Ichthyosis Histrix, Curth-Macklin Type:

34
Skin

Animal Models for Ichthyosis Histrix, Curth-Macklin Type or affiliated genes

About this section

Publications for Ichthyosis Histrix, Curth-Macklin Type

About this section

Variations for Ichthyosis Histrix, Curth-Macklin Type

About this section

Expression for genes affiliated with Ichthyosis Histrix, Curth-Macklin Type

About this section
Search GEO for disease gene expression data for Ichthyosis Histrix, Curth-Macklin Type.

Pathways for genes affiliated with Ichthyosis Histrix, Curth-Macklin Type

About this section

Pathways related to Ichthyosis Histrix, Curth-Macklin Type according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1KRT1, KRT16

GO Terms for genes affiliated with Ichthyosis Histrix, Curth-Macklin Type

About this section

Cellular components related to Ichthyosis Histrix, Curth-Macklin Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.1KRT1, KRT16

Biological processes related to Ichthyosis Histrix, Curth-Macklin Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.1KRT1, KRT16

Sources for Ichthyosis Histrix, Curth-Macklin Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet