MCID: ICH046
MIFTS: 22

Ichthyosis Histrix, Curth-Macklin Type malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Ichthyosis Histrix, Curth-Macklin Type

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OMIM:47 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 keratoderma, 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.

Aliases & Classifications for Ichthyosis Histrix, Curth-Macklin Type

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 28ICD10 via Orphanet
See all sources

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

Name: Ichthyosis Histrix, Curth-Macklin Type 47 11
Ichthyosis Hystrix, Curth-Macklin Type 47 43 49
Ichthyosis Hystrix of Curth-Macklin 43 49
 
Ichthyosis Hystrix, Curth Macklin Type 43
Curth-Macklin Type Ichthyosis Hystrix 43
Ihcm 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
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:

OMIM47 146590
Orphanet49 79503
UMLS via Orphanet63 C0432307, C1840296
MESH via Orphanet36 C536088
ICD10 via Orphanet28 Q80.8

Related Diseases for Ichthyosis Histrix, Curth-Macklin Type

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Diseases related to Ichthyosis Histrix, Curth-Macklin Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1keratoderma10.6

Symptoms for Ichthyosis Histrix, Curth-Macklin Type

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Symptoms by clinical synopsis from OMIM:

146590

Clinical features from OMIM:

146590

Symptoms:

 49 (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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Drug clinical trials:

Search ClinicalTrials for Ichthyosis Histrix, Curth-Macklin Type

Search 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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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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Compounds 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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Products for genes affiliated with Ichthyosis Histrix, Curth-Macklin Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ichthyosis Histrix, Curth-Macklin Type

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet