Bloom Syndrome (BLM)

Alias:
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1
Bloom-Torre-Machacek Syndrome
Mgrisce1
Bsyn
Bls
Blm
Bs
Congenital Telangiectatic Erythema Syndrome
Congenital Telangiectatic Erythema
Bloom's Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bloom Syndrome, also known as microcephaly, growth restriction, and increased sister chromatid exchange 1, is related to microcephaly, growth restriction, and increased sister chromatid exchange 2 and fanconi anemia, complementation group j. An important gene associated with Bloom Syndrome is BLM (BLM RecQ Like Helicase), and among its related pathways/superpathways are Infectious disease and Cell Cycle, Mitotic. Affiliated tissues include skin and t cells, and related phenotypes are growth delay and intrauterine growth retardation
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
32
634
148

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

Name
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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