Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD)

Alias:
Admfd
Syndromic Multisystem Autoimmune Disease Due to Itch Deficiency
Autoimmune Disease, Syndromic Multisystem
Syndromic Multisystem Autoimmune Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autoimmune Disease, Multisystem, with Facial Dysmorphism, also known as admfd, is related to syndromic multisystem autoimmune disease due to itch deficiency and autoimmune disease. An important gene associated with Autoimmune Disease, Multisystem, with Facial Dysmorphism is ITCH (Itchy E3 Ubiquitin Protein Ligase). Affiliated tissues include liver and lung, and related phenotypes are frontal bossing and ptosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
1
7
4

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

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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
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IF
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