Digital Extensor Muscle Aplasia-Polyneuropathy

Alias:
Congenital Aplasia of the Extensor Muscles of the Fingers and Thumb Associated with Generalized Polyneuropathy
Polyneuropathy-Hand Defect Syndrome
Hamanishi-Ueba-Tsuji Syndrome
Polyneuropathy Hand Defect
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Digital Extensor Muscle Aplasia-Polyneuropathy, also known as congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, is related to aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy and polyneuropathy. Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and impaired pain sensation
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
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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
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No data available

Related Drugs

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CAS Number
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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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