MCID: ICH046
MIFTS: 19

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:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Ichthyosis Histrix, Curth-Macklin Type 51 12
Ichthyosis Hystrix, Curth-Macklin Type 51 53 69
Ichthyosis Hystrix, Curth Macklin Type 47 67
 
Ichthyosis Hystrix of Curth-Macklin 53 26
Ihcm 47 69
Curth-Macklin Type Ichthyosis Hystrix 47

Characteristics:

Orphanet epidemiological data:

53
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:

63
ichthyosis histrix, curth-macklin type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 146590
Orphanet53 ORPHA79503
ICD10 via Orphanet30 Q80.8
MESH via Orphanet39 C536088
UMLS via Orphanet68 C0432307, C1840296
MedGen36 C1840296
MeSH38 D007057

Summaries for Ichthyosis Histrix, Curth-Macklin Type

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OMIM:51 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, is also known as ichthyosis hystrix, curth-macklin type, and has symptoms including hyperkeratosis, ichthyosis and skin ulcer. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:69 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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Symptoms for Ichthyosis Histrix, Curth-Macklin Type

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Symptoms by clinical synopsis from OMIM:

146590

Clinical features from OMIM:

146590

Human phenotypes related to Ichthyosis Histrix, Curth-Macklin Type:

 63 53 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000962
2 ichthyosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008064
3 skin ulcer63 hallmark (90%) HP:0200042
4 abnormality of the fingernails63 typical (50%) HP:0001231
5 flexion contracture63 53 typical (50%) Frequent (79-30%) HP:0001371
6 gangrene63 occasional (7.5%) HP:0100758
7 abnormality of metabolism/homeostasis63 HP:0001939
8 recurrent skin infections53 Very frequent (99-80%)
9 diffuse palmoplantar keratoderma53 Very frequent (99-80%)
10 autoamputation of digits53 Occasional (29-5%)
11 nail dystrophy53 Frequent (79-30%)
12 bleeding with minor or no trauma53 Occasional (29-5%)

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

id Genetic test Affiliating Genes
1 Ichthyosis Hystrix, Curth Macklin Type26

Anatomical Context for Ichthyosis Histrix, Curth-Macklin Type

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

35
Skin

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet