Nail Disorder, Nonsyndromic Congenital, 4 (NDNC4)

Alias:
Anonychia Congenita
Anonychia
Hyponychia Congenita
Nonsyndromic Congenital Nail Disorder 4
Anonychia/hyponychia Congenita
Anonychia Congenita Totalis
Ndnc4
Nail Disorder, Nonsyndromic, Congenital, Type 4
Nail Disorder, Non-Syndromic Congenital, 4
Congenital Absence of Nails
Anonychia Totalis
Aplastic Nails
Absent Nails
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nail Disorder, Nonsyndromic Congenital, 4, also known as anonychia congenita, is related to epidermolysis bullosa and anhidrosis. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 4 is RSPO4 (R-Spondin 4), and among its related pathways/superpathways are Keratinization and Hair follicle development: organogenesis - part 2 of 3. Affiliated tissues include bone and skin, and related phenotypes are anonychia and growth abnormality
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Unknown
--
18
117
10

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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