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BLM
MCID: BLM001
MIFTS: 65
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Bloom Syndrome (BLM)
Categories:
Blood diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Bloom Syndrome:
Characteristics:Orphanet epidemiological data:58
bloom syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
life-threatening infections predisposition to neoplasia HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Blood diseases
ICD10:
33
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases External Ids:
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MedlinePlus Genetics :
43
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood.Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes.People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer.Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.
MalaCards based summary : Bloom Syndrome, also known as bloom-torre-machacek syndrome, is related to microcephaly, growth restriction, and increased sister chromatid exchange 2 and wilms tumor predisposition. An important gene associated with Bloom Syndrome is BLM (BLM RecQ Like Helicase), and among its related pathways/superpathways are Homologous recombination and Fanconi anemia pathway. Affiliated tissues include skin, breast and t cells, and related phenotypes are intrauterine growth retardation and severe postnatal growth retardation Disease Ontology : 12 A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. GARD : 20 Bloom syndrome affects many different body systems and is characterized by slow growth, sun sensitivity, and an increased risk of cancer. Symptoms include short stature, sun-sensitive skin rash, and an immune system that doesn't work correctly. Some people with Bloom syndrome have learning disabilities, type 2 diabetes, and chronic obstructive pulmonary disease (COPD). Most people with Bloom syndrome develop some type of cancer by age 40. Bloom syndrome is caused by genetic variants in the BLM gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical examination, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. OMIM® : 57 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability. (210900) (Updated 05-Apr-2021) KEGG : 36 Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by severe growth deficiency, an erythematous and photosensitive facial rash, dysmorphic features such as microcephaly and malar hypoplasia, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed. UniProtKB/Swiss-Prot : 72 Bloom syndrome: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. Wikipedia : 73 Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder... more...
GeneReviews:
NBK1398
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Human phenotypes related to Bloom Syndrome:58 31 (show top 50) (show all 97)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:210900 (Updated 05-Apr-2021)GenomeRNAi Phenotypes related to Bloom Syndrome according to GeneCards Suite gene sharing:26 (show all 13)
MGI Mouse Phenotypes related to Bloom Syndrome:46
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Interventional clinical trials:
Cochrane evidence based reviews: bloom syndrome |
MalaCards organs/tissues related to Bloom Syndrome:40
Skin,
Breast,
T Cells,
Myeloid,
Colon,
Lung,
Prostate
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Articles related to Bloom Syndrome:(show top 50) (show all 768)
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Genes related to Bloom Syndrome (1 elite genes):(show all 28) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bloom Syndrome:6 (show top 50) (show all 1397)
UniProtKB/Swiss-Prot genetic disease variations for Bloom Syndrome:72
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Search
GEO
for disease gene expression data for Bloom Syndrome.
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Pathways related to Bloom Syndrome according to KEGG:36
Pathways related to Bloom Syndrome according to GeneCards Suite gene sharing:(show all 16)
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Cellular components related to Bloom Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Bloom Syndrome according to GeneCards Suite gene sharing:(show all 46)
Molecular functions related to Bloom Syndrome according to GeneCards Suite gene sharing:(show all 23)
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