Dental Anomalies and Short Stature (DASS)

Alias:
Brachyolmia-Amelogenesis Imperfecta Syndrome
Platyspondyly with Amelogenesis Imperfecta
Verloes-Bourguignon Syndrome
Dass
Platyspondyly-Amelogenesis Imperfecta Syndrome
Tooth Agenesis, Selective, 6
Verloes Bourguignon Syndrome
Sthag6
Vbs
Tooth Agenesis, Selective, 6, Formerly
Agenesis, Tooth, Selective, Type 6
Selective Tooth Agenesis 5
Sthag6, Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dental Anomalies and Short Stature, also known as brachyolmia-amelogenesis imperfecta syndrome, is related to brachyolmia and tooth agenesis. An important gene associated with Dental Anomalies and Short Stature is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. Affiliated tissues include bone and brain, and related phenotypes are mandibular prognathia and hypoplasia of the maxilla
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
19
141
10

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
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IF
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