Details of Disease

General Information of Disease (ID: DISZE1R9)

Disease Name Ichthyosis hystrix of Curth-Macklin
Synonyms
ichthyosis histrix, curth-macklin type; IHCM; Ichthyosis Hystrix, Curth Macklin Type; Curth-Macklin type ichthyosis hystrix; ichthyosis hystrix, Curth Macklin type; ichthyosis HYSTRIX, Curth-Macklin type; ichthyosis hystrix, Curth-Macklin type
Definition Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).
Disease Hierarchy
DIS5N46O: Keratinopathic ichthyosis
DISD08MT: Ichthyosis hystrix
DISZE1R9: Ichthyosis hystrix of Curth-Macklin
Disease Identifiers
MONDO ID
MONDO_0007808
MESH ID
C536088
UMLS CUI
C1840296
OMIM ID
146590
MedGen ID
326700
Orphanet ID
79503
SNOMED CT ID
254170001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT1 OTIOJWA4 Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.