Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans (SADDAN)

Alias:
Saddan
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Saddan Dysplasia
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
Skeleton-Skin-Brain Syndrome
Achondroplasia
Ssb Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans, also known as saddan, is related to achondroplasia and hypochondroplasia, and has symptoms including seizures An important gene associated with Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Infectious disease and ERK Signaling. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are intellectual disability, severe and aplasia/hypoplasia of the mandible
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
12
220
5

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
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IF
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