MCID: ICH046
MIFTS: 25

Ichthyosis Histrix, Curth-Macklin Type malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Histrix, Curth-Macklin Type

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Ichthyosis Histrix, Curth-Macklin Type 49 11
Ichthyosis Hystrix, Curth-Macklin Type 51 67 24
Ichthyosis Hystrix, Curth Macklin Type 45 65
 
Ihcm 45 67
Curth-Macklin Type Ichthyosis Hystrix 45
Ichthyosis Hystrix of Curth-Macklin 51

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

HPO:

61
ichthyosis histrix, curth-macklin type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 146590
Orphanet51 79503
ICD10 via Orphanet28 Q80.8
MESH via Orphanet37 C536088
UMLS via Orphanet66 C0432307, C1840296
MedGen34 C1840296
MeSH36 D007057
UMLS65 C1840296

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 palmoplantar keratoderma, nonepidermolytic and white sponge nevus 1, and has symptoms including skin ulcer, ichthyosis and hyperkeratosis. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1). Affiliated tissues include skin, breast and small intestine.

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

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, Breast, Small intestine

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

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

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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