Carpenter Syndrome 1 (CRPT1)

Carpenter Syndrome 1(来自ICD-11)
别称:
Carpenter Syndrome
Acrocephalopolysyndactyly Type Ii
Acrocephalopolysyndactyly Type 2
Acps Ii
Acps2
Acrocephalopolysyndactyly 2
Crpt1
Rab23-Related Carpenter Syndrome
Acrocephalosyndactyly, Type Ii
Type Ii Acrocephalosyndactyly
Carpenter Syndrome, Type 1
Apert-Crouzon Disease
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Basic Information
Medical Symptom
Gene & Mutation
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Carpenter Syndrome 1, also known as carpenter syndrome, is related to chromosome 2q35 duplication syndrome and polydactyly. An important gene associated with Carpenter Syndrome 1 is RAB23 (RAB23, Member RAS Oncogene Family), and among its related pathways/superpathways are Vesicle-mediated transport and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include heart and bone, and related phenotypes are brachydactyly and finger syndactyly
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MALACARDS
AR
Antenatal
<1/1000000
32
287
17

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