Bone Marrow Failure Syndrome 1 (BMFS1)

Alias:
Autosomal Dominant Aplasia and Myelodysplasia
Bmfs1
Autosomal Dominant Aplastic Anemia and Myelodysplasia
Bone Marrow Failure Syndrome, Type 1
Familial Bone Marrow Failure
Bmff
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bone Marrow Failure Syndrome 1, also known as autosomal dominant aplasia and myelodysplasia, is related to bone marrow failure syndrome 2 and bone marrow failure syndrome 3. An important gene associated with Bone Marrow Failure Syndrome 1 is SRP72 (Signal Recognition Particle 72). Affiliated tissues include bone marrow and bone, and related phenotypes are sensorineural hearing impairment and bone marrow hypocellularity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
1
3
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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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
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IF
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