Kenny-Caffey Syndrome, Type 2 (KCS2)

Alias:
Kenny-Caffey Syndrome Type 2
Kenny Syndrome
Kcs2
Dwarfism with Cortical Thickening of Tubular Bones and Transient Hypocalcemia
Dwarfism, Cortical Thickening of Tubular Bones, and Transient Hypocalcemia
Autosomal Dominant Kenny-Caffey Syndrome
Kenny-Caffey Syndrome 2
Kenny-Caffey Syndrome
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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
肯尼-卡菲综合征2型,又称肯尼-卡菲综合征2型,与肯尼-卡菲综合征的常染色体显性遗传和肯尼-卡菲综合征1型有关。肯尼-卡菲综合征2型的一个重要基因是FAM111A(FAM111 Trypsin Like Peptidase A)。相关组织包括骨和眼,相关表型为身材矮小和低钙血症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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13
73
15

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
Year
IF
No Data Found!
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