Symphalangism, Proximal, 1a (SYM1A)

Alias:
Hereditary Absence of the Proximal Interphalangeal Joints
Proximal Symphalangism 1a
Cushing Symphalangism
Sym1a
Sym1
Symphalangism, Proximal, Type 1a
Symphalangism, Proximal 1a
Symphalangism, Proximal
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Symphalangism, Proximal, 1a, also known as hereditary absence of the proximal interphalangeal joints, is related to symphalangism, proximal, 1b and tarsal-carpal coalition syndrome. An important gene associated with Symphalangism, Proximal, 1a is NOG (Noggin). Affiliated tissues include bone and eye, and related phenotypes are conductive hearing impairment and tarsal synostosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
4
19

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
Year
IF
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