IHCM
MCID: ICH013
MIFTS: 15

Ichthyosis Hystrix, Curth Macklin Type (IHCM) malady

Summaries for Ichthyosis Hystrix, Curth Macklin Type

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MalaCards: Ichthyosis Hystrix, Curth Macklin Type, also known as curth-macklin type ichthyosis hystrix, is related to keratoderma and ichthyosis histrix, curth-macklin type. An important gene associated with Ichthyosis Hystrix, Curth Macklin Type is KRT1 (keratin 1), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The compounds asparagine and valine have been mentioned in the context of this disorder.

Aliases & Classifications for Ichthyosis Hystrix, Curth Macklin Type

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

ichthyosis hystrix, curth macklin type 43 61
curth-macklin type ichthyosis hystrix 43
ihcm 43


Related Diseases for Ichthyosis Hystrix, Curth Macklin Type

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Ichthyosis Hystrix, Curth Macklin Type:



Diseases related to ichthyosis hystrix, curth macklin type

Clinical Features for Ichthyosis Hystrix, Curth Macklin Type

Drugs & Therapeutics for Ichthyosis Hystrix, Curth Macklin Type

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ichthyosis Hystrix, Curth Macklin Type

Anatomical Context for Ichthyosis Hystrix, Curth Macklin Type

Animal Models for Ichthyosis Hystrix, Curth Macklin Type or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Ichthyosis Hystrix, Curth Macklin Type

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51PubMed
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Articles related to Ichthyosis Hystrix, Curth Macklin Type:

idTitleAuthorsYear
1
Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1. (21844476)
2011
2
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. (16417221)
2006
3
Seborrheic distributed papules with palmoplantar hyperkeratosis--quiz case. Diagnosis: Ichthyosis hystrix, Curth-Macklin type. (15967930)
2005

Genetic Variations for Ichthyosis Hystrix, Curth Macklin Type

Expression for genes affiliated with Ichthyosis Hystrix, Curth Macklin Type

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ichthyosis Hystrix, Curth Macklin Type

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Pathways for genes affiliated with Ichthyosis Hystrix, Curth Macklin Type

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12EMD Millipore
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Pathways related to Ichthyosis Hystrix, Curth Macklin Type according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1KRT1, KRT5

Compounds for genes affiliated with Ichthyosis Hystrix, Curth Macklin Type

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Ichthyosis Hystrix, Curth Macklin Type according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1asparagine459.4KRT1, KRT5
2valine459.4KRT1, KRT5
3phenylalanine459.4KRT1, KRT5
4retinoid459.4KRT5, KRT1
512-o-tetradecanoylphorbol 13-acetate459.4KRT1, KRT5
6paraffin459.3KRT1, KRT5
7proline459.3KRT1, KRT5
8lysine459.3KRT5, KRT1
9aspartate459.2KRT1, KRT5
10leucine459.2KRT1, KRT5
11progesterone45 60 29 11 2413.1KRT5, KRT1
12threonine459.1KRT1, KRT5
13testosterone45 60 11 2412.0KRT1, KRT5
14arginine458.8KRT1, KRT5

GO Terms for genes affiliated with Ichthyosis Hystrix, Curth Macklin Type

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16Gene Ontology
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Cellular components related to Ichthyosis Hystrix, Curth Macklin Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.1KRT1, KRT5

Products for genes affiliated with Ichthyosis Hystrix, Curth Macklin Type

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ichthyosis Hystrix, Curth Macklin Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet