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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Ichthyosis Histrix, Curth-Macklin Type 52 12
Ichthyosis Hystrix, Curth-Macklin Type 52 54 70
Ichthyosis Hystrix, Curth Macklin Type 48 68
 
Ichthyosis Hystrix of Curth-Macklin 54 27
Ihcm 48 70
Curth-Macklin Type Ichthyosis Hystrix 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
ichthyosis histrix, curth-macklin type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 146590
Orphanet54 ORPHA79503
ICD10 via Orphanet31 Q80.8
MESH via Orphanet40 C536088
UMLS via Orphanet69 C0432307, C1840296
MedGen37 C1840296
MeSH39 D007057

Summaries for Ichthyosis Histrix, Curth-Macklin Type

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OMIM:52 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:70 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 & Phenotypes 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:

 64 54 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000962
2 ichthyosis64 54 hallmark (90%) Very frequent (99-80%) HP:0008064
3 skin ulcer64 hallmark (90%) HP:0200042
4 abnormality of the fingernails64 typical (50%) HP:0001231
5 flexion contracture64 54 typical (50%) Frequent (79-30%) HP:0001371
6 gangrene64 occasional (7.5%) HP:0100758
7 abnormality of metabolism/homeostasis64 HP:0001939
8 recurrent skin infections54 Very frequent (99-80%)
9 diffuse palmoplantar keratoderma54 Very frequent (99-80%)
10 autoamputation of digits54 Occasional (29-5%)
11 nail dystrophy54 Frequent (79-30%)
12 bleeding with minor or no trauma54 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 Type27

Anatomical Context for Ichthyosis Histrix, Curth-Macklin Type

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

36
Skin

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet