MCID: ICH046
MIFTS: 29

Ichthyosis Histrix, Curth-Macklin Type malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Ichthyosis Histrix, Curth-Macklin Type

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 65UMLS, 67UniProtKB/Swiss-Prot, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Ichthyosis Histrix, Curth-Macklin Type 49 11
Ichthyosis Hystrix, Curth-Macklin Type 51 67
Ichthyosis Hystrix, Curth Macklin Type 45 65
 
Ihcm 45 67
Curth-Macklin Type Ichthyosis Hystrix 45
Ichthyosis Hystrix of Curth-Macklin 51


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
ichthyosis hystrix, curth-macklin type:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM49 146590
Orphanet51 79503
ICD10 via Orphanet28 Q80.8
MESH via Orphanet37 C536088
UMLS via Orphanet66 C0432307, C1840296
MedGen34 C1840296
MeSH36 D007057

Summaries for Ichthyosis Histrix, Curth-Macklin Type

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OMIM:49 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 ichthyosis and pili torti, and has symptoms including hyperkeratosis, ichthyosis and skin ulcer. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1, Type II), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and integument.

UniProtKB/Swiss-Prot:67 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

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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

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Symptoms by clinical synopsis from OMIM:

146590

Clinical features from OMIM:

146590

Symptoms:

 51 (show all 8)
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • ichthyosis/ichthyosiform dermatitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • autosomal dominant inheritance
  • abnormal fingernails
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • gangrena/necrosis

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

(show all 9)
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 autosomal dominant inheritance HP:0000006
8 abnormality of metabolism/homeostasis HP:0001939
9 ichthyosis HP:0008064

Drugs & Therapeutics for Ichthyosis Histrix, Curth-Macklin Type

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Interventional clinical trials:

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

Genetic Tests for Ichthyosis Histrix, Curth-Macklin Type

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Anatomical Context for Ichthyosis Histrix, Curth-Macklin Type

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

33
Skin

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

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MGI Mouse Phenotypes related to Ichthyosis Histrix, Curth-Macklin Type:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT1, KRT9
2MP:00107718.5KRT1, KRT16, KRT9

Publications for Ichthyosis Histrix, Curth-Macklin Type

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Variations for Ichthyosis Histrix, Curth-Macklin Type

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

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

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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3KRT1, KRT16

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

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.3KRT1, KRT16
2intermediate filamentGO:00058828.8KRT1, KRT16, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.7KRT1, KRT16
2epidermis developmentGO:00085449.1KRT16, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.1KRT16, KRT9
2structural molecule activityGO:00051988.2KRT1, KRT16, KRT9

Sources for Ichthyosis Histrix, Curth-Macklin Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet