BLM
MCID: BLM001
MIFTS: 65

Bloom Syndrome (BLM)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bloom Syndrome

MalaCards integrated aliases for Bloom Syndrome:

Name: Bloom Syndrome 57 12 73 25 20 43 58 72 36 29 13 54 6 44 15 39 70
Bloom-Torre-Machacek Syndrome 12 20 43
Bls 57 20 72
Blm 57 20 72
Bs 57 20 72
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1 57 72
Congenital Telangiectatic Erythema 20 43
Mgrisce1 57 72
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 20
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1; Mgrisce1 57
Congenital Telangiectatic Erythema Syndrome 12
Bloom's Syndrome 43
Bs; Bls 57
Bsyn 58

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:

31
bloom syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases


Summaries for Bloom Syndrome

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

Related Diseases for Bloom Syndrome

Diseases related to Bloom Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 239)
# Related Disease Score Top Affiliating Genes
1 microcephaly, growth restriction, and increased sister chromatid exchange 2 32.3 TOP3A RMI2
2 wilms tumor predisposition 31.6 BRCA2 BLM
3 hereditary breast ovarian cancer syndrome 31.4 RECQL RAD51 FANCM BRCA2 BRCA1 BLM
4 nijmegen breakage syndrome 31.3 WRN TERF2 RAD51 PML LIG1 BRCA1
5 ataxia-telangiectasia 30.5 LIG1 HPRT1 BRCA2 BRCA1 BLM
6 fanconi anemia, complementation group d2 30.1 RAD51 FANCM BRCA2
7 mutagen sensitivity 30.0 BRCA2 BRCA1
8 breast-ovarian cancer, familial 2 30.0 BRCA2 BRCA1
9 fanconi anemia, complementation group j 30.0 WRN RAD51 FANCM BRCA2 BRCA1
10 li-fraumeni syndrome 29.7 WRN RECQL4 RAD51 BRCA2 BRCA1
11 cockayne syndrome 29.6 HPRT1 HELLS FEN1 BRCA1
12 rapadilino syndrome 29.1 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
13 werner syndrome 29.1 WRN TERF2 RECQL5 RECQL4 RECQL RAD54L
14 baller-gerold syndrome 28.9 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
15 rothmund-thomson syndrome, type 2 28.8 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
16 fanconi anemia, complementation group a 28.6 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
17 xeroderma pigmentosum, variant type 28.2 WRN RMI1 RECQL4 RECQL RAD54L RAD51
18 bare lymphocyte syndrome, type ii 11.7
19 bare lymphocyte syndrome, type i 11.6
20 breast cancer 11.2
21 blind loop syndrome 11.1
22 cone-rod dystrophy 2 11.0
23 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.9
24 adermatoglyphia 10.8
25 syndromic intellectual disability 10.8
26 familial colorectal cancer 10.8
27 autosomal recessive disease 10.6
28 cardiac arrest 10.5
29 telangiectasis 10.4
30 acrocallosal syndrome 10.4
31 premature aging 10.4
32 pulmonary fibrosis 10.3
33 exanthem 10.3
34 malignant ovarian cyst 10.3 RMI2 RMI1
35 ovarian mucinous cystadenocarcinoma 10.3 RMI2 RMI1
36 fallopian tube clear cell adenocarcinoma 10.3 BRCA2 BRCA1
37 ovary transitional cell carcinoma 10.3 BRCA2 BRCA1
38 basaloid lung carcinoma 10.3 BRCA2 BRCA1
39 cancerophobia 10.3 BRCA2 BRCA1
40 nosophobia 10.3 BRCA2 BRCA1
41 fibrosis of extraocular muscles, congenital, 1 10.3
42 tetraploidy 10.3 BRCA2 BRCA1
43 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.3 BRCA2 BRCA1
44 ruvalcaba syndrome 10.3 BRCA2 BRCA1
45 familial ovarian cancer 10.3 BRCA2 BRCA1
46 hereditary site-specific ovarian cancer syndrome 10.3 BRCA2 BRCA1
47 intracystic papillary adenoma 10.2 BRCA2 BRCA1
48 endosalpingiosis 10.2 BRCA2 BRCA1
49 cervical adenoma malignum 10.2 BRCA2 BRCA1
50 ataxia and polyneuropathy, adult-onset 10.2

Graphical network of the top 20 diseases related to Bloom Syndrome:



Diseases related to Bloom Syndrome

Symptoms & Phenotypes for Bloom Syndrome

Human phenotypes related to Bloom Syndrome:

58 31 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
2 severe postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008850
3 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
4 adipose tissue loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0008887
5 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
6 premature ovarian insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008209
7 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
10 otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000388
11 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
12 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
13 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
14 hypopigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0001010
15 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
16 cafe-au-lait spot 58 31 frequent (33%) Frequent (79-30%) HP:0000957
17 male infertility 58 31 frequent (33%) Frequent (79-30%) HP:0003251
18 decreased circulating iga level 58 31 frequent (33%) Frequent (79-30%) HP:0002720
19 poor appetite 58 31 frequent (33%) Frequent (79-30%) HP:0004396
20 decreased circulating igg level 58 31 frequent (33%) Frequent (79-30%) HP:0004315
21 decreased circulating total igm 58 31 frequent (33%) Frequent (79-30%) HP:0002850
22 decreased head circumference 58 31 frequent (33%) Frequent (79-30%) HP:0040195
23 decreased proportion of cd4-positive t cells 31 frequent (33%) HP:0032218
24 abnormal proportion of cd8-positive t cells 31 frequent (33%) HP:0031393
25 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
26 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
27 azoospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000027
28 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
29 cheilitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100825
30 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
31 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
32 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
33 neoplasm of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0100273
34 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008066
35 acute lymphoblastic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006721
36 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
37 malignant genitourinary tract tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006758
38 sparse eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000653
39 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
40 paronychia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001818
41 abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0025615
42 oligospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000798
43 poikiloderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001029
44 telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001009
45 neoplasm of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0100013
46 bronchitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012387
47 rhinitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012384
48 acute myeloid leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004808
49 recurrent herpes 58 31 occasional (7.5%) Occasional (29-5%) HP:0005353
50 recurrent gastroenteritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly
dolichocephaly

Neoplasia:
leukemia
lymphoma
squamous cell carcinoma
adenocarcinoma
hypersensitivity to chemotherapy

Respiratory Airways:
bronchiectasis

Skeletal Hands:
polydactyly
syndactyly
fifth finger clinodactyly

Head And Neck Ears:
prominent ears

Neurologic Central Nervous System:
learning disability
mild mental retardation in some

Growth Other:
growth failure
prenatal onset growth retardation

Head And Neck Teeth:
absent upper lateral incisors

Voice:
high-pitched

Laboratory Abnormalities:
high sister chromatid exchange (sce) rate
sce normal in heterozygotes
increased chromosomal breakage
decreased iga, igg, igm

Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia

Head And Neck Nose:
prominent nose

Skin Nails Hair Skin:
hypertrichosis
spotty hypopigmentation
spotty hyperpigmentation
photosensitivity
cafe-au-lait spots
more
Respiratory Lung:
chronic lung disease

Head And Neck Face:
malar hypoplasia
narrow

Endocrine Features:
noninsulin-dependent diabetes mellitus

Growth Height:
average adult male height 151cm
average adult female height 144cm

Genitourinary Internal Genitalia Female:
reduced fertility in females

Immunology:
immunoglobulin deficiency (iga, igg, igm)
impaired lymphocyte proliferation response to malignancy

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)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.17 BRCA1 RAD51 RECQL4
2 Decreased homologous recombination repair frequency GR00151-A-2 10.17 BRCA1 RAD51 RECQL4
3 Decreased homologous recombination repair frequency GR00236-A-1 10.17 BRCA1 RAD51 RECQL4
4 Decreased homologous recombination repair frequency GR00236-A-2 10.17 BRCA1 RAD51 RECQL4
5 Decreased homologous recombination repair frequency GR00236-A-3 10.17 BRCA1 RAD51
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.09 BLM FANCM FEN1 LIG1
7 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.09 BLM BRCA1 FANCM FEN1 LIG1 LIG3
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.09 BLM BRCA1 BRCA2 FANCM LIG1 RAD51
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.97 BRCA1 BRCA2 LIG3 RAD54L
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.97 BLM BRCA1 BRCA2 FANCM LIG1 LIG3
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.97 BLM BRCA1 BRCA2 FEN1 LIG1 LIG3
12 Decreased viability with cisplatin GR00101-A-4 9.43 BRCA1 BRCA2 RAD51
13 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 RAD51

MGI Mouse Phenotypes related to Bloom Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 BLM BRCA1 BRCA2 FANCM FEN1 HELLS
2 embryo MP:0005380 10.11 BLM BRCA1 BRCA2 FEN1 HELLS HPRT1
3 hematopoietic system MP:0005397 10.03 BLM BRCA1 BRCA2 FANCM FEN1 HELLS
4 endocrine/exocrine gland MP:0005379 10.02 BRCA1 BRCA2 FANCM FEN1 HELLS HPRT1
5 immune system MP:0005387 9.9 BLM BRCA1 BRCA2 FEN1 HELLS HPRT1
6 mortality/aging MP:0010768 9.89 BLM BRCA1 BRCA2 FANCM FEN1 HELLS
7 neoplasm MP:0002006 9.32 BLM BRCA1 BRCA2 FANCM FEN1 HPRT1

Drugs & Therapeutics for Bloom Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biological Significance of the Bloom's Syndrome Protein Completed NCT00021437

Search NIH Clinical Center for Bloom Syndrome

Cochrane evidence based reviews: bloom syndrome

Genetic Tests for Bloom Syndrome

Genetic tests related to Bloom Syndrome:

# Genetic test Affiliating Genes
1 Bloom Syndrome 29 BLM

Anatomical Context for Bloom Syndrome

MalaCards organs/tissues related to Bloom Syndrome:

40
Skin, Breast, T Cells, Myeloid, Colon, Lung, Prostate

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(show top 50) (show all 768)
# Title Authors PMID Year
1
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. 6 25 57 61
9837821 1998
2
Three new BLM gene mutations associated with Bloom syndrome. 54 25 61 6
18471088 2008
3
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 6 25 54 61
17407155 2007
4
Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. 61 6 57
10521302 1999
5
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. 57 61 6
10090915 1999
6
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. 57 6 54
9285778 1997
7
The Bloom's syndrome gene product is homologous to RecQ helicases. 54 6 57
7585968 1995
8
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. 61 6 25
26788541 2016
9
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members. 61 25 6
25129257 2014
10
A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 61 25 6
24096176 2013
11
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. 25 61 6
9758720 1998
12
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. 6 57
9482582 1998
13
Bloom syndrome and maternal uniparental disomy for chromosome 15. 57 25 61
7912890 1994
14
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. 6 25
23225144 2013
15
Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure. 6 61 54
15579905 2005
16
Functional interaction of p53 and BLM DNA helicase in apoptosis. 61 54 6
11399766 2001
17
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. 54 6 61
10965492 2000
18
Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. 54 61 6
10569803 1999
19
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. 25 57
5770175 1969
20
Germline BLM mutations and metastatic prostate cancer. 6 61
31816118 2020
21
First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis. 6 61
28611551 2017
22
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. 61 6
26340805 2016
23
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 61 6
26358404 2015
24
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. 6 61
26247052 2015
25
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. 6 61
24118499 2014
26
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. 61 6
24932421 2013
27
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. 6 61
23552953 2013
28
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 6 61
23028338 2012
29
Critical interaction domains between bloom syndrome protein and RAD51. 61 6
21113733 2011
30
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. 6 61
17878217 2007
31
BLM is an early responder to DNA double-strand breaks. 61 6
16876111 2006
32
Bloom Syndrome 61 6
20301572 2006
33
The HRDC domain of BLM is required for the dissolution of double Holliday junctions. 6 54
15990871 2005
34
The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis. 6 61
12444098 2002
35
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. 54 61 25
11876000 2002
36
Successful pregnancy in a woman with Bloom syndrome. 61 57
11477604 2001
37
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. 57 61
11454428 2001
38
Cancer predisposition caused by elevated mitotic recombination in Bloom mice. 57 61
11101838 2000
39
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 57 61
10678659 2000
40
Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. 54 57
10318934 1999
41
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. 6 61
10069810 1999
42
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. 54 6
9840919 1998
43
Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. 54 57
9808625 1998
44
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. 6 61
9388480 1997
45
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. 61 57
8661112 1996
46
Molecular genetics of Bloom's syndrome. 54 57
8875252 1996
47
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. 57 61
7485150 1995
48
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. 57 61
8079989 1994
49
Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. 61 57
8022833 1994
50
Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. 57 61
1518822 1992

Variations for Bloom Syndrome

ClinVar genetic disease variations for Bloom Syndrome:

6 (show top 50) (show all 1397)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLM NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) SNV Pathogenic 42067 rs367543028 GRCh37: 15:91308549-91308549
GRCh38: 15:90765319-90765319
2 BLM NM_000057.2(BLM):c.2308-953_2555+4719del Deletion Pathogenic 42069 GRCh37: 15:91311410-91317535
GRCh38: 15:90768180-90774305
3 BLM NM_000057.4(BLM):c.2923del (p.Gln975fs) Deletion Pathogenic 42076 rs367543014 GRCh37: 15:91333977-91333977
GRCh38: 15:90790747-90790747
4 BLM NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) Deletion Pathogenic 5455 rs367543035 GRCh37: 15:91293055-91293057
GRCh38: 15:90749825-90749827
5 BLM NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) SNV Pathogenic 5457 rs137853153 GRCh37: 15:91337484-91337484
GRCh38: 15:90794254-90794254
6 BLM NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) SNV Pathogenic 42089 rs367543031 GRCh37: 15:91352462-91352462
GRCh38: 15:90809232-90809232
7 BLM NM_000057.4(BLM):c.2407dup (p.Trp803fs) Duplication Pathogenic 42177 rs367543012 GRCh37: 15:91312667-91312668
GRCh38: 15:90769437-90769438
8 BLM NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) SNV Pathogenic 156484 rs587783037 GRCh37: 15:91346807-91346807
GRCh38: 15:90803577-90803577
9 BLM NM_000057.4(BLM):c.2206dup (p.Tyr736fs) Duplication Pathogenic 317406 rs886051551 GRCh37: 15:91310151-91310152
GRCh38: 15:90766921-90766922
10 BLM NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) SNV Pathogenic 405266 rs762354041 GRCh37: 15:91333930-91333930
GRCh38: 15:90790700-90790700
11 BLM NM_000057.4(BLM):c.1129del (p.Glu377fs) Deletion Pathogenic 454063 rs1555419710 GRCh37: 15:91303417-91303417
GRCh38: 15:90760187-90760187
12 BLM NM_000057.4(BLM):c.3261del (p.Phe1087fs) Deletion Pathogenic 454132 rs1319786857 GRCh37: 15:91341468-91341468
GRCh38: 15:90798238-90798238
13 BLM NM_000057.4(BLM):c.213_214del (p.Ser72fs) Deletion Pathogenic 454095 rs960430492 GRCh37: 15:91292709-91292710
GRCh38: 15:90749479-90749480
14 BLM NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) SNV Pathogenic 182059 rs730881428 GRCh37: 15:91303961-91303961
GRCh38: 15:90760731-90760731
15 BLM NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) Duplication Pathogenic 454074 rs1555419806 GRCh37: 15:91303896-91303897
GRCh38: 15:90760666-90760667
16 BLM NM_000057.4(BLM):c.1968dup (p.Lys657fs) Duplication Pathogenic 495425 rs772785079 GRCh37: 15:91306280-91306281
GRCh38: 15:90763050-90763051
17 BLM NM_000057.4(BLM):c.2539del (p.Ile847fs) Deletion Pathogenic 524795 rs770751979 GRCh37: 15:91312800-91312800
GRCh38: 15:90769570-90769570
18 BLM NC_000015.10:g.(?_90790643)_(90790850_?)del Deletion Pathogenic 524847 GRCh37: 15:91333873-91334080
GRCh38: 15:90790643-90790850
19 BLM NC_000015.10:g.(?_90754805)_(90754944_?)del Deletion Pathogenic 524848 GRCh37: 15:91298035-91298174
GRCh38: 15:90754805-90754944
20 BLM NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) Deletion Pathogenic 553499 rs762804291 GRCh37: 15:91306294-91306295
GRCh38: 15:90763064-90763065
21 BLM NM_000057.4(BLM):c.3960dup (p.Val1321fs) Duplication Pathogenic 565336 rs1567066891 GRCh37: 15:91354517-91354518
GRCh38: 15:90811287-90811288
22 BLM NM_000057.4(BLM):c.2851_2857del (p.Met951fs) Deletion Pathogenic 573132 rs1309932713 GRCh37: 15:91333903-91333909
GRCh38: 15:90790673-90790679
23 BLM NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) Insertion Pathogenic 574253 rs1567045130 GRCh37: 15:91312408-91312409
GRCh38: 15:90769178-90769179
24 BLM NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) Deletion Pathogenic 576209 rs1567036579 GRCh37: 15:91295054-91295103
GRCh38: 15:90751824-90751873
25 BLM NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) SNV Pathogenic 577769 rs1477193473 GRCh37: 15:91304065-91304065
GRCh38: 15:90760835-90760835
26 BLM NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) Indel Pathogenic 580708 rs1567063125 GRCh37: 15:91347407-91347407
GRCh38: 15:90804177-90804177
27 BLM NM_000057.4(BLM):c.2506del (p.Arg836fs) Deletion Pathogenic 581302 rs1567045531 GRCh37: 15:91312767-91312767
GRCh38: 15:90769537-90769537
28 BLM NM_000057.4(BLM):c.835G>T (p.Glu279Ter) SNV Pathogenic 582201 rs1567036566 GRCh37: 15:91295052-91295052
GRCh38: 15:90751822-90751822
29 BLM NC_000015.10:g.(?_90811195)_(90811416_?)del Deletion Pathogenic 583481 GRCh37: 15:91354425-91354646
GRCh38: 15:90811195-90811416
30 BLM NM_000057.4(BLM):c.1043dup (p.Met348fs) Duplication Pathogenic 584884 rs1567038003 GRCh37: 15:91298123-91298124
GRCh38: 15:90754893-90754894
31 BLM NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) SNV Pathogenic 584888 rs1400231534 GRCh37: 15:91310204-91310204
GRCh38: 15:90766974-90766974
32 BLM NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) Indel Pathogenic 644219 rs1596235791 GRCh37: 15:91310154-91310159
GRCh38: 15:90766924-90766929
33 BLM NM_000057.4(BLM):c.619del (p.Asp207fs) Deletion Pathogenic 643228 rs1596218981 GRCh37: 15:91293117-91293117
GRCh38: 15:90749887-90749887
34 BLM NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) SNV Pathogenic 653629 rs1596267627 GRCh37: 15:91346888-91346888
GRCh38: 15:90803658-90803658
35 BLM NM_000057.4(BLM):c.600_603AACA[1] (p.Asn202fs) Microsatellite Pathogenic 661923 rs774777021 GRCh37: 15:91293098-91293101
GRCh38: 15:90749868-90749871
36 BLM NC_000015.10:g.(?_90747383)_(90765424_?)del Deletion Pathogenic 658444 GRCh37: 15:91290613-91308654
GRCh38: 15:90747383-90765424
37 BLM NC_000015.10:g.(?_90747383)_(90751956_?)del Deletion Pathogenic 658981 GRCh37: 15:91290613-91295186
GRCh38: 15:90747383-90751956
38 BLM NM_000057.4(BLM):c.709del (p.Cys237fs) Deletion Pathogenic 664539 rs1217879599 GRCh37: 15:91293205-91293205
GRCh38: 15:90749975-90749975
39 BLM NM_000057.4(BLM):c.2193+1G>A SNV Pathogenic 694326 rs865866188 GRCh37: 15:91308645-91308645
GRCh38: 15:90765415-90765415
40 BLM NM_000057.4(BLM):c.1546G>T (p.Glu516Ter) SNV Pathogenic 665277 rs1596230118 GRCh37: 15:91304149-91304149
GRCh38: 15:90760919-90760919
41 BLM NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) SNV Pathogenic 803130 rs1596232266 GRCh37: 15:91306318-91306318
GRCh38: 15:90763088-90763088
42 BLM NM_000057.4(BLM):c.2207_2209del (p.Tyr736del) Deletion Pathogenic 803132 rs750667270 GRCh37: 15:91310153-91310155
GRCh38: 15:90766923-90766925
43 BLM NM_000057.4(BLM):c.2650_2651del (p.Lys884fs) Deletion Pathogenic 694002 rs1596250472 GRCh37: 15:91326145-91326146
GRCh38: 15:90782915-90782916
44 BLM NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) SNV Pathogenic 694003 rs1596252279 GRCh37: 15:91328297-91328297
GRCh38: 15:90785067-90785067
45 BLM NM_000057.4(BLM):c.371_372AC[2] (p.Pro126fs) Microsatellite Pathogenic 835407 GRCh37: 15:91292869-91292870
GRCh38: 15:90749639-90749640
46 BLM NC_000015.10:g.(?_90749357)_(90765424_?)del Deletion Pathogenic 830859 GRCh37: 15:91292587-91308654
GRCh38:
47 BLM NC_000015.10:g.(?_90769123)_(90769596_?)del Deletion Pathogenic 830916 GRCh37: 15:91312353-91312826
GRCh38:
48 BLM NC_000015.10:g.(?_90782812)_(90785091_?)del Deletion Pathogenic 831051 GRCh37: 15:91326042-91328321
GRCh38:
49 BLM NM_000057.4(BLM):c.2268del (p.Asp757fs) Deletion Pathogenic 803135 rs747341586 GRCh37: 15:91310208-91310208
GRCh38: 15:90766978-90766978
50 BLM NC_000015.10:g.(?_90790639)_(90790854_?)del Deletion Pathogenic 831439 GRCh37: 15:91333869-91334084
GRCh38:

UniProtKB/Swiss-Prot genetic disease variations for Bloom Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 BLM p.Gln672Arg VAR_006901 rs747281324
2 BLM p.Thr843Ile VAR_006902 rs137853152
3 BLM p.Cys1055Ser VAR_006903 rs367543029
4 BLM p.Gly891Glu VAR_009138 rs763471784
5 BLM p.Cys901Tyr VAR_009139 rs758311406
6 BLM p.Cys1036Phe VAR_009140 rs137853153
7 BLM p.Ile841Thr VAR_016032 rs767086502
8 BLM p.Cys878Arg VAR_016033

Expression for Bloom Syndrome

Search GEO for disease gene expression data for Bloom Syndrome.

Pathways for Bloom Syndrome

Pathways related to Bloom Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Homologous recombination hsa03440
2 Fanconi anemia pathway hsa03460

Pathways related to Bloom Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 WRN TOP3A TERF2 RMI2 RMI1 RAD51
2
Show member pathways
13.04 WRN TOP3A RMI2 RMI1 RAD51 LIG3
3
Show member pathways
12.86 WRN TOP3A RMI2 RMI1 PML BRCA1
4
Show member pathways
12.69 WRN LIG3 LIG1 FEN1 BRCA1
5
Show member pathways
12.59 RAD51 LIG3 LIG1 FEN1 BRCA2 BRCA1
6
Show member pathways
12.52 WRN TOP3A RMI2 RMI1 BRCA1 BLM
7
Show member pathways
12.4 TOP3A TERF2 RAD51 BRCA2 BRCA1 BLM
8
Show member pathways
12.39 WRN PML BRCA1 BLM
9
Show member pathways
12.22 WRN TOP3A RMI2 RMI1 RAD51 BRCA2
10 12.07 RAD54L RAD51 PML BRCA2 BRCA1 BLM
11 11.83 WRN TERF2 RECQL5 RECQL4 RECQL RAD54L
12
Show member pathways
11.79 WRN TOP3A RMI2 RMI1 RAD54L RAD51
13
Show member pathways
11.75 RAD51 HELLS BRCA2 BRCA1 BLM
14 11.73 TOP3A RMI2 RMI1 RAD51 FANCM BRCA2
15 11.53 WRN TERF2 BLM
16 11.08 WRN FEN1 BRCA1

GO Terms for Bloom Syndrome

Cellular components related to Bloom Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.23 WRN TOP3A TERF2 RMI2 RMI1 RECQL5
2 nucleoplasm GO:0005654 10.09 WRN TOP3A TERF2 RMI2 RMI1 RECQL5
3 protein-containing complex GO:0032991 9.88 RAD54L RAD51 FEN1 BRCA2 BRCA1 BLM
4 PML body GO:0016605 9.67 TOP3A RAD51 PML BLM
5 chromosome GO:0005694 9.65 WRN TOP3A TERF2 RECQL5 RECQL4 RECQL
6 lateral element GO:0000800 9.62 RAD51 BRCA2 BRCA1 BLM
7 chromosome, telomeric region GO:0000781 9.23 WRN TERF2 RECQL4 RAD51 PML FEN1

Biological processes related to Bloom Syndrome according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.11 WRN RECQL5 RAD54L RAD51 LIG3 LIG1
2 cell cycle GO:0007049 10.09 TERF2 RECQL5 LIG3 LIG1 HELLS BRCA2
3 DNA recombination GO:0006310 10 WRN RECQL5 RECQL4 RECQL RAD54L RAD51
4 regulation of signal transduction by p53 class mediator GO:1901796 9.98 WRN TOP3A RMI2 RMI1 PML BRCA1
5 DNA duplex unwinding GO:0032508 9.95 WRN RECQL5 RECQL4 RECQL RAD54L FANCM
6 double-strand break repair GO:0006302 9.93 WRN RAD54L LIG3 FEN1 BRCA2 BRCA1
7 DNA replication GO:0006260 9.9 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
8 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.87 WRN FEN1 FANCM
9 meiotic cell cycle GO:0051321 9.87 TOP3A RAD54L RAD51
10 telomere maintenance GO:0000723 9.84 WRN TERF2 RECQL4 BLM
11 replication fork processing GO:0031297 9.83 WRN RAD51 FANCM BLM
12 response to ionizing radiation GO:0010212 9.81 RAD54L RAD51 BRCA1
13 telomeric D-loop disassembly GO:0061820 9.8 WRN TERF2 RECQL4 BLM
14 DNA unwinding involved in DNA replication GO:0006268 9.8 WRN RECQL5 RECQL4 RECQL RAD51 BLM
15 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.79 PML BRCA2 BRCA1
16 DNA strand renaturation GO:0000733 9.78 RECQL4 RECQL RAD54L BLM
17 DNA metabolic process GO:0006259 9.77 WRN RECQL5 RAD51
18 base-excision repair GO:0006284 9.76 WRN LIG1 FEN1
19 cell aging GO:0007569 9.75 WRN PML BRCA2
20 response to X-ray GO:0010165 9.73 RAD51 BRCA2 BLM
21 double-strand break repair via homologous recombination GO:0000724 9.73 WRN RMI1 RECQL5 RECQL4 RECQL RAD54L
22 negative regulation of telomere maintenance via telomerase GO:0032211 9.7 TERF2 PML
23 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.69 RMI2 RECQL5
24 resolution of meiotic recombination intermediates GO:0000712 9.69 RMI1 FANCM
25 cellular response to camptothecin GO:0072757 9.69 RECQL5 RAD51 BLM
26 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.68 BRCA2 BRCA1
27 DNA double-strand break processing GO:0000729 9.68 BRCA1 BLM
28 cellular metabolic process GO:0044237 9.68 WRN BLM
29 t-circle formation GO:0090656 9.68 WRN BLM
30 cellular response to hydroxyurea GO:0072711 9.67 RAD51 BLM
31 V(D)J recombination GO:0033151 9.67 LIG3 LIG1
32 positive regulation of telomere maintenance GO:0032206 9.67 TERF2 PML
33 telomere maintenance via recombination GO:0000722 9.66 RAD51 BRCA2
34 response to UV-C GO:0010225 9.66 WRN BRCA2
35 replication fork protection GO:0048478 9.65 BRCA2 BLM
36 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.65 RECQL5 RAD51
37 G-quadruplex DNA unwinding GO:0044806 9.65 WRN BLM
38 DNA ligation GO:0006266 9.64 LIG3 LIG1
39 chromosome separation GO:0051304 9.64 TOP3A RECQL5
40 DNA ligation involved in DNA repair GO:0051103 9.63 LIG3 LIG1
41 lymphocyte proliferation GO:0046651 9.62 HPRT1 HELLS
42 chordate embryonic development GO:0043009 9.62 BRCA2 BRCA1
43 double-strand break repair via synthesis-dependent strand annealing GO:0045003 9.61 RAD54L FANCM
44 lagging strand elongation GO:0006273 9.6 LIG3 LIG1
45 mitotic recombination-dependent replication fork processing GO:1990426 9.57 RAD51 BRCA2
46 DNA repair GO:0006281 9.47 WRN RMI2 RECQL5 RECQL4 RECQL RAD54L

Molecular functions related to Bloom Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.58 WRN TOP3A TERF2 RMI2 RMI1 RECQL5
2 nucleotide binding GO:0000166 10.22 WRN RMI1 RECQL5 RECQL4 RECQL RAD54L
3 hydrolase activity GO:0016787 10.19 WRN RECQL5 RECQL4 RECQL RAD54L HELLS
4 ATP binding GO:0005524 10.17 WRN RECQL5 RECQL4 RECQL RAD54L RAD51
5 identical protein binding GO:0042802 10.16 RECQL5 RAD51 PML HPRT1 BRCA2 BRCA1
6 nucleic acid binding GO:0003676 10.13 WRN TOP3A RECQL5 RECQL4 RECQL FANCM
7 DNA binding GO:0003677 10.13 WRN TOP3A TERF2 RMI2 RECQL RAD54L
8 single-stranded DNA binding GO:0003697 9.83 TOP3A RAD51 BRCA2 BLM
9 DNA helicase activity GO:0003678 9.8 WRN RECQL5 RECQL4 RECQL RAD54L BLM
10 helicase activity GO:0004386 9.76 WRN RECQL5 RECQL4 RECQL RAD54L HELLS
11 four-way junction DNA binding GO:0000400 9.67 WRN FANCM BLM
12 annealing helicase activity GO:0036310 9.67 RECQL4 RECQL RAD54L BLM
13 bubble DNA binding GO:0000405 9.65 WRN RECQL4 BLM
14 telomeric D-loop binding GO:0061821 9.63 WRN RECQL4 BLM
15 G-quadruplex DNA binding GO:0051880 9.6 WRN BLM
16 Y-form DNA binding GO:0000403 9.59 WRN BLM
17 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.58 WRN BLM
18 telomeric G-quadruplex DNA binding GO:0061849 9.57 WRN BLM
19 DNA ligase (ATP) activity GO:0003910 9.56 LIG3 LIG1
20 DNA ligase activity GO:0003909 9.55 LIG3 LIG1
21 forked DNA-dependent helicase activity GO:0061749 9.51 WRN BLM
22 3'-5' DNA helicase activity GO:0043138 9.43 WRN RECQL5 RECQL4 RECQL FANCM BLM
23 four-way junction helicase activity GO:0009378 9.1 WRN RECQL5 RECQL4 RECQL FANCM BLM

Sources for Bloom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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