Skin Creases, Congenital Symmetric Circumferential, 1 (CSCSC1)

Alias:
Michelin Tire Baby Syndrome
Cscsc1
Skin Creases, Multiple Benign Ring-Shaped, of Limbs
Congenital Symmetric Circumferential Skin Creases 1
Circumferential Skin Creases, Kunze Type
Skin Crease, Circumferential, Symmetric, Congenital, Type 1
Multiple Benign Circumferential Skin Creases on Limbs 1
Symmetric Circumferential Skin Creases, Congenital, 1
Multiple Benign Ring-Shaped Skin Creases of Limbs
Circumferential Skin Creases Kunze Type
Csc-Kt
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
皮肤皱纹,先天性对称性周身型,1型,又称米其林轮胎婴儿综合症,与肢体和管蛋白病相关的多发性良性周身性皮肤皱纹有关。与皮肤皱纹,先天性对称性周身型,1型相关的基因是TUBB(管蛋白β类I),其相关通路/超级通路包括过氧化物酶体脂质代谢。附属组织包括皮肤和平滑肌,相关表型包括小下颌和胸骨凹陷。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
34
19

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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