Acrocephalopolysyndactyly Type Iii

Alias:
Sakati Syndrome
Sakati-Nyhan Syndrome
Sakati-Nyhan-Tisdale Syndrome
Acps with Leg Hypoplasia
Acrocephalopolysyndactyly Type 3
Acps Iii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acrocephalopolysyndactyly Type Iii, also known as sakati syndrome, is related to woodhouse-sakati syndrome and hypoparathyroidism-retardation-dysmorphism syndrome. An important gene associated with Acrocephalopolysyndactyly Type Iii is LIN28B (Lin-28 Homolog B), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and 22q11.2 copy number variation syndrome. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related phenotypes are normal and muscle
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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5
43
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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IF
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