Holt-Oram Syndrome (HOS)

Alias:
Hos
Atriodigital Dysplasia
Heart-Hand Syndrome
Atriodigital Dysplasia Type 1
Heart-Hand Syndrome Type 1
Atrio-Digital Syndrome
Heart-Hand Syndrome, Type 1
Ventriculo-Radial Syndrome
Cardiac-Limb Syndrome
Heart Hand Syndrome
Holt Oram Syndrome
Hos1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Holt-Oram Syndrome, also known as hos, is related to interatrial communication and atrioventricular block. An important gene associated with Holt-Oram Syndrome is TBX5 (T-Box Transcription Factor 5), and among its related pathways/superpathways are Nervous system development and Cardiac conduction. Affiliated tissues include heart and bone, and related phenotypes are joint stiffness and split hand
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
1-9/1000000
26
326
76

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

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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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