Multiple Benign Circumferential Skin Creases on Limbs (CCSF)

Alias:
Circumferential Skin Creases, Kunze Type
Congenital Circumferential Skin Folds
Kunze-Riehm Syndrome
Ccsf
Michelin Tire Baby Syndrome
Kunze Riehm Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Benign Circumferential Skin Creases on Limbs, also known as circumferential skin creases, kunze type, is related to skin creases, congenital symmetric circumferential, 1 and skin creases, congenital symmetric circumferential, 2. An important gene associated with Multiple Benign Circumferential Skin Creases on Limbs is TUBB (Tubulin Beta Class I), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Alzheimer's disease and miRNA effects. Affiliated tissues include skin and brain, and related phenotypes are thickened skin and edema
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
17
82
1

Medical Symptom

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

Gene & Mutation

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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
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IF
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