Bartsocas-Papas Syndrome 1 (BPS1)

Alias:
Popliteal Pterygium Syndrome, Lethal Type
Multiple Pterygium Syndrome, Aslan Type
Popliteal Pterygium Syndrome, Bartsocas-Papas Type 1
Popliteal Pterygium Syndrome, Bartsocas-Papas Type
Popliteal Pterygium Syndrome Lethal Type
Pterygium, Popliteal, Lethal Type
Bartsocas-Papas Syndrome
Bps1
Bps
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bartsocas-Papas Syndrome 1, also known as popliteal pterygium syndrome, lethal type, is related to bartsocas-papas syndrome and bartsocas-papas syndrome 2. An important gene associated with Bartsocas-Papas Syndrome 1 is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4). Affiliated tissues include skin and uterus, and related phenotypes are microphthalmia and hypoplasia of the maxilla
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
--
1
7
16

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
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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
Journal
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IF
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