MCID: ICH046
MIFTS: 18

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:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 61UMLS, 62UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Ichthyosis Histrix, Curth-Macklin Type 46 9
Ichthyosis Hystrix, Curth-Macklin Type 46 42 48
Ichthyosis Hystrix, Curth Macklin Type 42 61
 
Ichthyosis Hystrix of Curth-Macklin 42 48
Curth-Macklin Type Ichthyosis Hystrix 42
Ihcm 42


Classifications:

Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
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:

OMIM46 146590
Orphanet48 79503
UMLS via Orphanet62 C0432307, C1840296
MESH via Orphanet34 C536088
ICD10 via Orphanet26 Q80.8

Summaries for Ichthyosis Histrix, Curth-Macklin Type

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OMIM:46 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.

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 Suite 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:

 48 (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:

31
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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Sources for Ichthyosis Histrix, Curth-Macklin Type

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet