Adermatoglyphia (ADERM)

Alias:
Immigration Delay Disease
Aderm
Isolated Congenital Adermatoglyphia
Congenital Absence of Fingerprints
Absence of Fingerprints
Adg
Fingerprints, Absence of
Skin Abnormalities
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Adermatoglyphia, also known as immigration delay disease, is related to pancytopenia and skin disease, and has symptoms including exanthema and pruritus. An important gene associated with Adermatoglyphia is SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1), and among its related pathways/superpathways are Nuclear events mediated by NFE2L2 and Glutathione conjugation. The drugs Folic acid and Pantothenic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and breast, and related phenotypes are palmar hyperkeratosis and adermatoglyphia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
26
237
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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