Arthrogryposis, Distal, Type 3 (DA3)

Alias:
Gordon Syndrome
Distal Arthrogryposis Type 3
Arthrogryposis Multiplex Congenita, Distal, Type Iia
Camptodactyly-Cleft Palate-Clubfoot Syndrome
Da3
Camptodactyly, Cleft Palate, and Clubfoot
Distal Arthrogryposis Type Iia
Distal Arthrogryposis Multiplex Congenita Type Iia
Pseudohypoaldosteronism, Type Ii
Arthrogryposis, Distal, 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis, Distal, Type 3, also known as gordon syndrome, is related to pseudohypoaldosteronism, type iie and pseudohypoaldosteronism, type iia. An important gene associated with Arthrogryposis, Distal, Type 3 is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include cerebellum and kidney, and related phenotypes are talipes and camptodactyly of finger
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
--
19
182
15

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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