BLM
MCID: BLM001
MIFTS: 66

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 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Bloom-Torre-Machacek Syndrome 12 52 25
Bls 56 52 73
Blm 56 52 73
Bs 56 52 73
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1 56 73
Congenital Telangiectatic Erythema 52 25
Mgrisce1 56 73
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 52
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1; Mgrisce1 56
Congenital Telangiectatic Erythema Syndrome 12
Bloom's Syndrome 25
Bs; Bls 56
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:

56
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

Genetics Home Reference : 25 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 adermatoglyphia and pelvic lipomatosis. 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. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include skin, lung and breast, and related phenotypes are malar flattening and delayed skeletal maturation

Disease Ontology : 12 An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

NIH Rare Diseases : 52 Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. Signs and symptoms include short stature ; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. Some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (COPD); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. It is caused by mutations in the BLM gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.

OMIM : 56 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)

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 dwarfism, photosensitivity, 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 : 73 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 : 74 Bloom syndrome (often abbreviated as BS in literature), is a rare autosomal recessive 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 430)
# Related Disease Score Top Affiliating Genes
1 adermatoglyphia 32.4 WRN BLM
2 pelvic lipomatosis 32.1 WRN BLM
3 wilms tumor predisposition 31.9 BRCA2 BLM
4 nijmegen breakage syndrome 31.8 WRN TERF2 RAD51 H2AX BRCA1 ATM
5 rapadilino syndrome 30.4 WRN RECQL5 RECQL4 RECQL RAD51 HELLS
6 ataxia-telangiectasia 30.1 LIG1 H2AX BRCA2 BRCA1 BLM ATM
7 fanconi anemia, complementation group j 30.1 WRN RAD51 FANCM BRCA2 BRCA1
8 mutagen sensitivity 30.0 BRCA2 BRCA1
9 cockayne syndrome 29.8 HPRT1 HELLS FEN1 BRCA1
10 dyskeratosis congenita 29.8 WRN TERF2 RECQL4 ATM
11 familial retinoblastoma 29.8 WRN RECQL4
12 li-fraumeni syndrome 29.7 WRN RECQL4 BRCA2 BRCA1 ATM
13 lynch syndrome 29.5 HPRT1 BRCA2 BRCA1 ATM
14 leukemia, acute myeloid 29.3 RAD51 PML H2AX BRCA2 BRCA1 ATM
15 baller-gerold syndrome 28.6 WRN RECQL5 RECQL4 RECQL RAD51 FEN1
16 rothmund-thomson syndrome, type 2 28.2 WRN RECQL5 RECQL4 RECQL RAD51 HELLS
17 werner syndrome 28.0 WRN TERF2 RECQL5 RECQL4 RECQL RAD51
18 fanconi anemia, complementation group a 27.5 WRN RECQL5 RECQL4 RECQL RAD51 HPRT1
19 xeroderma pigmentosum, variant type 26.6 WRN UNG RECQL4 RECQL RAD51 LIG3
20 bare lymphocyte syndrome, type i 12.3
21 bare lymphocyte syndrome, type ii 12.3
22 microcephaly, growth restriction, and increased sister chromatid exchange 2 11.7
23 inherited cancer-predisposing syndrome 11.6
24 progressive familial heart block, type ia 11.5
25 hypocalcemia, autosomal dominant 1 11.5
26 blind loop syndrome 11.4
27 bartter disease 11.2
28 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.2
29 comedo carcinoma 11.1
30 autosomal recessive disease 10.6
31 cardiac arrest 10.5
32 leprosy 3 10.5
33 hansen's disease 10.5
34 telangiectasis 10.4
35 hepatitis 10.4
36 premature aging 10.4
37 acrocallosal syndrome 10.4
38 scrotum squamous cell carcinoma 10.3 H2AX ATM
39 lymphosarcoma 10.3
40 hereditary site-specific ovarian cancer syndrome 10.3 BRCA2 BRCA1
41 exanthem 10.3
42 rare malignant breast tumor 10.3 BRCA2 BRCA1
43 synchronous bilateral breast carcinoma 10.3 BRCA2 BRCA1
44 ataxia and polyneuropathy, adult-onset 10.3
45 breast juvenile papillomatosis 10.3 BRCA2 BRCA1
46 familial ovarian cancer 10.3 BRCA2 BRCA1
47 tetraploidy 10.3 BRCA2 BRCA1
48 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.3 BRCA1 ATM
49 cancerophobia 10.3 BRCA2 BRCA1
50 xeroderma pigmentosum, complementation group f 10.3 LIG1 FEN1 FANCM

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 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
7 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
8 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
9 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
10 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
11 abnormality of chromosome stability 58 31 hallmark (90%) Very frequent (99-80%) HP:0003220
12 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
13 spotty hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005585
14 facial telangiectasia in butterfly midface distribution 58 31 hallmark (90%) Very frequent (99-80%) HP:0005598
15 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
16 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
17 hypoplasia of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0010669
18 high pitched voice 58 31 frequent (33%) Frequent (79-30%) HP:0001620
19 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
20 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
21 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
22 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
23 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
24 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
25 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
26 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
27 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
28 azoospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000027
29 reduced number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0009804
30 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
31 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
32 decreased circulating iga level 58 31 occasional (7.5%) Occasional (29-5%) HP:0002720
33 decreased circulating igg level 58 31 occasional (7.5%) Occasional (29-5%) HP:0004315
34 neoplasm of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0007378
35 decreased fertility in females 58 31 occasional (7.5%) Occasional (29-5%) HP:0000868
36 decreased circulating total igm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002850
37 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
38 type ii diabetes mellitus 31 HP:0005978
39 cryptorchidism 31 HP:0000028
40 cafe-au-lait spot 31 HP:0000957
41 neoplasm 58 Very frequent (99-80%)
42 telangiectasia of the skin 58 Frequent (79-30%)
43 specific learning disability 31 HP:0001328
44 decreased antibody level in blood 58 Occasional (29-5%)
45 clinodactyly of the 5th finger 31 HP:0004209
46 abnormality of the face 58 Frequent (79-30%)
47 leukemia 31 HP:0001909
48 abnormality of the nose 58 Very frequent (99-80%)
49 bronchiectasis 31 HP:0002110
50 prominent nose 31 HP:0000448

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia

Neoplasia:
leukemia
lymphoma
squamous cell carcinoma
adenocarcinoma
hypersensitivity to chemotherapy

Head And Neck Nose:
prominent nose

Skeletal Hands:
syndactyly
polydactyly
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

Head And Neck Head:
microcephaly
dolichocephaly

Respiratory Airways:
bronchiectasis

Skin Nails Hair Skin:
hypertrichosis
spotty hyperpigmentation
spotty hypopigmentation
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

GenomeRNAi Phenotypes related to Bloom Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.06 ATM BLM BRCA1 BRCA2 FANCM FEN1
2 Decreased homologous recombination repair frequency GR00151-A-1 9.97 BRCA1 RAD51 RECQL4
3 Decreased homologous recombination repair frequency GR00151-A-2 9.97 BRCA1 RAD51 RECQL4
4 Decreased homologous recombination repair frequency GR00236-A-3 9.97 BRCA1 RAD51
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 ATM BLM BRCA1 BRCA2 FANCM FEN1
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 ATM BLM BRCA1 BRCA2 FANCM FEN1
7 Decreased viability after ionizing radiation GR00232-A-2 9.5 ATM BRCA1 BRCA2
8 Decreased viability with cisplatin GR00101-A-4 9.43 BRCA1 BRCA2 RAD51
9 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 RAD51

MGI Mouse Phenotypes related to Bloom Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.43 ATM BLM BRCA1 BRCA2 FANCM FEN1
2 endocrine/exocrine gland MP:0005379 10.22 ATM BRCA1 BRCA2 FANCM FEN1 H2AX
3 growth/size/body region MP:0005378 10.18 ATM BLM BRCA1 BRCA2 FEN1 H2AX
4 embryo MP:0005380 10.17 ATM BLM BRCA1 BRCA2 FEN1 HELLS
5 hematopoietic system MP:0005397 10.17 ATM BLM BRCA1 BRCA2 FANCM FEN1
6 immune system MP:0005387 10.07 ATM BLM BRCA1 BRCA2 FEN1 H2AX
7 mortality/aging MP:0010768 9.89 ATM BLM BRCA1 BRCA2 FANCM FEN1
8 integument MP:0010771 9.81 ATM BLM BRCA1 BRCA2 HELLS HPRT1
9 neoplasm MP:0002006 9.44 ATM BLM BRCA1 BRCA2 FANCM FEN1

Drugs & Therapeutics for Bloom Syndrome

Drugs for Bloom Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biological Significance of the Bloom's Syndrome Protein Completed NCT00021437
2 ECOG Laboratory Study: Mapping Interactive Cancer Susceptibility Loci Completed NCT00003329
3 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817

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, Lung, Breast, Bone, T Cells, Eye, Prostate

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(show top 50) (show all 705)
# Title Authors PMID Year
1
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. 61 24 56 6
9837821 1998
2
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 54 61 24 6
17407155 2007
3
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. 61 56 6
10090915 1999
4
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. 54 56 6
9285778 1997
5
The Bloom's syndrome gene product is homologous to RecQ helicases. 54 56 6
7585968 1995
6
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. 56 6
9482582 1998
7
Bloom syndrome and maternal uniparental disomy for chromosome 15. 61 24 56
7912890 1994
8
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. 24 56
5770175 1969
9
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 61 6
19888064 2009
10
Three new BLM gene mutations associated with Bloom syndrome. 54 61 24
18471088 2008
11
Bloom Syndrome 61 6
20301572 2006
12
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. 54 61 24
11876000 2002
13
Successful pregnancy in a woman with Bloom syndrome. 61 56
11477604 2001
14
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. 61 56
11454428 2001
15
Cancer predisposition caused by elevated mitotic recombination in Bloom mice. 61 56
11101838 2000
16
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 61 56
10678659 2000
17
Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. 61 56
10521302 1999
18
Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. 54 56
10318934 1999
19
Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. 54 56
9808625 1998
20
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. 61 56
8661112 1996
21
Molecular genetics of Bloom's syndrome. 54 56
8875252 1996
22
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. 61 56
7485150 1995
23
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. 61 56
8079989 1994
24
Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. 61 56
8022833 1994
25
Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. 61 56
1518822 1992
26
Purification and properties of the uracil DNA glycosylase from Bloom's syndrome. 54 56
1742335 1991
27
A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells. 54 56
1881902 1991
28
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. 61 56
3163468 1988
29
Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. 61 56
3353381 1988
30
Structural alterations of DNA ligase I in Bloom syndrome. 61 56
3479778 1987
31
Wilms tumor in three patients with Bloom syndrome. 61 56
3040954 1987
32
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. 61 56
4065890 1985
33
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect. 61 56
7325155 1981
34
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. 61 56
6942420 1981
35
Mutagen-induced sister chromatid exchange rate in Bloom syndrome remains unaltered in the presence of Bloom corrective factor. 61 56
6799385 1981
36
Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. 61 56
7386453 1980
37
Questionable bloom syndrome in a Negro girl. 61 56
5052410 1972
38
Health supervision for people with Bloom syndrome. 61 24
30055079 2018
39
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. 61 24
30057030 2018
40
Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. 61 24
27977684 2016
41
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. 61 24
26788541 2016
42
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members. 61 24
25129257 2014
43
A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 61 24
24096176 2013
44
Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology. 61 24
20934517 2010
45
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
46
Wilms Tumor Predisposition 6
20301471 2003
47
DNA helicase Srs2 disrupts the Rad51 presynaptic filament. 56
12748644 2003
48
BLM heterozygosity and the risk of colorectal cancer. 6
12242432 2002
49
Role of the Bloom's syndrome helicase in maintenance of genome stability. 54 24
11356154 2001
50
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. 61 24
9758720 1998

Variations for Bloom Syndrome

ClinVar genetic disease variations for Bloom Syndrome:

6 (show top 50) (show all 742) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BLM NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)SNV Pathogenic 156484 rs587783037 15:91346807-91346807 15:90803577-90803577
2 BLM NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)SNV Pathogenic 182059 rs730881428 15:91303961-91303961 15:90760731-90760731
3 BLM NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)indel Pathogenic 5454 rs113993962 15:91310153-91310158 15:90766923-90766928
4 BLM NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)deletion Pathogenic 5455 rs367543035 15:91293055-91293057 15:90749825-90749827
5 BLM NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe)SNV Pathogenic 5457 rs137853153 15:91337484-91337484 15:90794254-90794254
6 BLM NM_000057.4(BLM):c.1544dup (p.Asn515fs)duplication Pathogenic 42064 rs367543043 15:91304138-91304139 15:90760908-90760909
7 BLM NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)SNV Pathogenic 42067 rs367543028 15:91308549-91308549 15:90765319-90765319
8 BLM NM_000057.2(BLM):c.2308-953_2555+4719deldeletion Pathogenic 42069 15:91311410-91317535 15:90768180-90774305
9 BLM NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)deletion Pathogenic 42071 rs367543024 15:91312767-91312768 15:90769537-90769538
10 BLM NM_000057.4(BLM):c.2923del (p.Gln975fs)deletion Pathogenic 42076 rs367543014 15:91333977-91333977 15:90790747-90790747
11 BLM NM_000057.4(BLM):c.2580_2581del (p.His860fs)deletion Pathogenic 220018 rs864622347 15:91326075-91326076 15:90782845-90782846
12 BLM NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)SNV Pathogenic 42089 rs367543031 15:91352462-91352462 15:90809232-90809232
13 BLM NM_000057.4(BLM):c.2407dup (p.Trp803fs)duplication Pathogenic 42177 rs367543012 15:91312667-91312668 15:90769437-90769438
14 BLM NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)SNV Pathogenic 127478 rs200389141 15:91304245-91304245 15:90761015-90761015
15 BLM NM_000057.4(BLM):c.2206dup (p.Tyr736fs)duplication Pathogenic 317406 rs886051551 15:91310151-91310152 15:90766921-90766922
16 BLM NM_000057.4(BLM):c.1544del (p.Asn515fs)deletion Pathogenic 374315 rs367543043 15:91304139-91304139 15:90760909-90760909
17 BLM NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)SNV Pathogenic 405266 rs762354041 15:91333930-91333930 15:90790700-90790700
18 BLM NM_000057.4(BLM):c.320dup (p.Leu107fs)duplication Pathogenic 405281 rs781221411 15:91292816-91292817 15:90749586-90749587
19 BLM NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)SNV Pathogenic 454091 rs373525781 15:91306246-91306246 15:90763016-90763016
20 BLM NM_000057.4(BLM):c.213_214del (p.Ser72fs)deletion Pathogenic 454095 rs960430492 15:91292709-91292710 15:90749479-90749480
21 BLM NM_000057.4(BLM):c.1129del (p.Glu377fs)deletion Pathogenic 454063 rs1555419710 15:91303417-91303417 15:90760187-90760187
22 BLM NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer)duplication Pathogenic 454074 rs1555419806 15:91303896-91303897 15:90760666-90760667
23 BLM NM_000057.4(BLM):c.3261del (p.Phe1087fs)deletion Pathogenic 454132 rs1319786857 15:91341468-91341468 15:90798238-90798238
24 BLM NC_000015.9:g.(?_91298035)_(91298174_?)deldeletion Pathogenic 524848 15:91298035-91298174 15:90754805-90754944
25 BLM NC_000015.9:g.(?_91333873)_(91334080_?)deldeletion Pathogenic 524847 15:91333873-91334080 15:90790643-90790850
26 BLM NM_000057.4(BLM):c.2539del (p.Ile847fs)deletion Pathogenic 524795 rs770751979 15:91312800-91312800 15:90769570-90769570
27 BLM NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)deletion Pathogenic 553499 rs762804291 15:91306294-91306295 15:90763064-90763065
28 BLM NM_000057.4(BLM):c.835G>T (p.Glu279Ter)SNV Pathogenic 582201 rs1567036566 15:91295052-91295052 15:90751822-90751822
29 BLM NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer)deletion Pathogenic 576209 rs1567036579 15:91295054-91295103 15:90751824-90751873
30 BLM NC_000015.9:g.(?_91354425)_(91354646_?)deldeletion Pathogenic 583481 15:91354425-91354646 15:90811195-90811416
31 BLM NM_000057.4(BLM):c.2851_2857del (p.Met951fs)deletion Pathogenic 573132 rs1309932713 15:91333903-91333909 15:90790673-90790679
32 BLM NM_000057.4(BLM):c.2506del (p.Arg836fs)deletion Pathogenic 581302 rs1567045531 15:91312767-91312767 15:90769537-90769537
33 BLM NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs)indel Pathogenic 580708 rs1567063125 15:91347407-91347407 15:90804177-90804177
34 BLM NM_000057.4(BLM):c.3960dup (p.Val1321fs)duplication Pathogenic 565336 rs1567066891 15:91354517-91354518 15:90811287-90811288
35 BLM NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)SNV Pathogenic 577769 rs1477193473 15:91304065-91304065 15:90760835-90760835
36 BLM NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs)insertion Pathogenic 574253 rs1567045130 15:91312408-91312409 15:90769178-90769179
37 BLM NM_000057.4(BLM):c.1043dup (p.Met348fs)duplication Pathogenic 584884 rs1567038003 15:91298123-91298124 15:90754893-90754894
38 BLM NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)SNV Pathogenic 584888 rs1400231534 15:91310204-91310204 15:90766974-90766974
39 BLM NM_000057.4(BLM):c.600_603AACA[1] (p.Asn202fs)short repeat Pathogenic 661923 15:91293098-91293101 15:90749868-90749871
40 BLM NM_000057.4(BLM):c.619del (p.Asp207fs)deletion Pathogenic 643228 15:91293117-91293117 15:90749887-90749887
41 BLM NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer)indel Pathogenic 644219 15:91310154-91310159 15:90766924-90766929
42 BLM NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)SNV Pathogenic 665277 15:91304149-91304149 15:90760919-90760919
43 BLM NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)SNV Pathogenic 653629 15:91346888-91346888 15:90803658-90803658
44 BLM NM_000057.4(BLM):c.709del (p.Cys237fs)deletion Pathogenic 664539 15:91293205-91293205 15:90749975-90749975
45 BLM NC_000015.9:g.(?_91290613)_(91308654_?)deldeletion Pathogenic 658444 15:91290613-91308654 15:90747383-90765424
46 BLM NC_000015.9:g.(?_91290613)_(91295186_?)deldeletion Pathogenic 658981 15:91290613-91295186 15:90747383-90751956
47 BLM NM_000057.4(BLM):c.98+1G>CSNV Pathogenic 667391 15:91290721-91290721 15:90747491-90747491
48 BLM NM_000057.4(BLM):c.2193+1G>ASNV Pathogenic 694326 15:91308645-91308645 15:90765415-90765415
49 BLM NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)SNV Pathogenic 803130 15:91306318-91306318 15:90763088-90763088
50 BLM NM_000057.4(BLM):c.2207_2209del (p.Tyr736del)deletion Pathogenic 803132 15:91310153-91310155 15:90766923-90766925

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

73
# 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
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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 WRN TERF2 RAD51 POLD4 LIG1 H2AX
2
Show member pathways
12.79 RAD51 H2AX BRCA2 BRCA1 ATM
3
Show member pathways
12.78 WRN UNG POLD4 LIG3 LIG1 FEN1
4
Show member pathways
12.77 WRN UNG RAD51 POLD4 LIG3 LIG1
5
Show member pathways
12.56 WRN H2AX BRCA1 BLM ATM
6
Show member pathways
12.52 UNG RAD51 POLD4 LIG3 LIG1 FEN1
7
Show member pathways
12.5 TERF2 POLD4 LIG1 H2AX FEN1
8
Show member pathways
12.41 TERF2 RAD51 H2AX BRCA2 BRCA1 BLM
9
Show member pathways
12.3 RAD51 PML H2AX BRCA1 ATM
10
Show member pathways
12.21 WRN RAD51 POLD4 BRCA2 BRCA1 BLM
11 12.1 RAD51 PML BRCA2 BRCA1 BLM ATM
12
Show member pathways
11.88 WRN RAD51 POLD4 BRCA2 BRCA1 BLM
13 11.87 WRN TERF2 RECQL5 RECQL4 RECQL RAD51
14
Show member pathways
11.85 POLD4 LIG3 LIG1
15 11.84 RAD51 FANCM BRCA2 BRCA1 BLM
16
Show member pathways
11.76 RAD51 H2AX BRCA1 ATM
17
Show member pathways
11.75 POLD4 LIG1 FEN1
18
Show member pathways
11.72 RAD51 HELLS BRCA2 BRCA1 BLM ATM
19 11.63 WRN TERF2 BLM ATM
20 11.42 BRCA1 BLM ATM
21 11.4 BRCA1 BLM ATM
22 11.2 RAD51 BRCA1 ATM
23 11.1 WRN FEN1 BRCA1
24 10.89 BRCA1 ATM

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 UNG TERF2 RECQL5 RECQL4 RECQL
2 nucleolus GO:0005730 9.98 WRN RAD51 POLD4 PML FEN1 BLM
3 nuclear chromosome, telomeric region GO:0000784 9.85 TERF2 RAD51 PML FEN1 BRCA2 ATM
4 chromosome GO:0005694 9.81 WRN TERF2 RECQL5 RECQL4 RECQL RAD51
5 PML body GO:0016605 9.65 RAD51 PML BLM
6 condensed nuclear chromosome GO:0000794 9.63 RAD51 H2AX BRCA1
7 lateral element GO:0000800 9.62 RAD51 BRCA2 BRCA1 BLM
8 replication fork GO:0005657 9.58 WRN H2AX BLM
9 nucleoplasm GO:0005654 9.55 WRN UNG TERF2 RECQL5 RECQL RAD51
10 chromosome, telomeric region GO:0000781 9.43 WRN TERF2 RECQL4 H2AX BLM ATM

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.13 TERF2 RECQL5 LIG3 LIG1 HELLS H2AX
2 DNA replication GO:0006260 10.02 WRN RECQL5 RECQL4 POLD4 LIG3 LIG1
3 DNA recombination GO:0006310 10 WRN RECQL5 RECQL4 RECQL RAD51 LIG3
4 regulation of signal transduction by p53 class mediator GO:1901796 9.97 WRN PML BRCA1 BLM ATM
5 double-strand break repair via homologous recombination GO:0000724 9.93 WRN RECQL5 RECQL4 RECQL RAD51 LIG3
6 DNA duplex unwinding GO:0032508 9.91 WRN RECQL5 RECQL4 RECQL BLM
7 double-strand break repair GO:0006302 9.91 WRN LIG3 H2AX FEN1 BRCA2 BRCA1
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.88 PML BRCA2 BRCA1 ATM
9 telomere maintenance GO:0000723 9.88 WRN TERF2 RECQL4 POLD4 BLM ATM
10 transcription-coupled nucleotide-excision repair GO:0006283 9.86 POLD4 LIG3 LIG1
11 double-strand break repair via nonhomologous end joining GO:0006303 9.85 H2AX BRCA1 ATM
12 base-excision repair GO:0006284 9.85 WRN UNG LIG1 FEN1
13 DNA unwinding involved in DNA replication GO:0006268 9.85 WRN RECQL5 RECQL4 RECQL RAD51 BLM
14 cellular response to gamma radiation GO:0071480 9.84 WRN RAD51 H2AX ATM
15 replication fork processing GO:0031297 9.83 WRN RAD51 FANCM BLM
16 response to ionizing radiation GO:0010212 9.82 H2AX BRCA1 ATM
17 DNA metabolic process GO:0006259 9.8 WRN RECQL5 RAD51
18 cell aging GO:0007569 9.8 WRN PML BRCA2
19 cellular response to DNA damage stimulus GO:0006974 9.8 WRN UNG RECQL5 RAD51 POLD4 LIG3
20 cellular senescence GO:0090398 9.79 TERF2 PML H2AX
21 nucleotide-excision repair, DNA gap filling GO:0006297 9.78 POLD4 LIG3 LIG1
22 response to X-ray GO:0010165 9.77 RAD51 BRCA2 BLM
23 DNA double-strand break processing GO:0000729 9.77 BRCA1 BLM ATM
24 V(D)J recombination GO:0033151 9.76 LIG3 LIG1 ATM
25 telomeric D-loop disassembly GO:0061820 9.76 WRN TERF2 RECQL4 BLM
26 DNA strand renaturation GO:0000733 9.73 RECQL4 RECQL BLM
27 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.7 BRCA2 BRCA1
28 cellular metabolic process GO:0044237 9.7 WRN BLM
29 t-circle formation GO:0090656 9.69 WRN BLM
30 cellular response to hydroxyurea GO:0072711 9.69 RAD51 BLM
31 response to UV-C GO:0010225 9.69 WRN BRCA2
32 replication fork protection GO:0048478 9.68 BRCA2 BLM
33 telomere maintenance via recombination GO:0000722 9.68 RAD51 BRCA2
34 chromosome organization involved in meiotic cell cycle GO:0070192 9.67 RAD51 ATM
35 DNA ligation involved in DNA repair GO:0051103 9.67 LIG3 LIG1
36 G-quadruplex DNA unwinding GO:0044806 9.67 WRN BLM
37 cellular response to camptothecin GO:0072757 9.67 RECQL5 RAD51 BLM
38 regulation of telomere maintenance via telomerase GO:0032210 9.66 TERF2 ATM
39 DNA ligation GO:0006266 9.66 LIG3 LIG1
40 lymphocyte proliferation GO:0046651 9.65 HPRT1 HELLS
41 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.65 RECQL5 RAD51
42 negative regulation of telomere capping GO:1904354 9.65 TERF2 ATM
43 chordate embryonic development GO:0043009 9.64 BRCA2 BRCA1
44 lagging strand elongation GO:0006273 9.63 LIG3 LIG1
45 mitotic recombination-dependent replication fork processing GO:1990426 9.62 RAD51 BRCA2
46 DNA repair GO:0006281 9.53 WRN UNG RECQL5 RECQL4 RECQL RAD51

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.53 WRN UNG TERF2 RECQL4 RECQL RAD51
2 hydrolase activity GO:0016787 10.16 WRN UNG RECQL5 RECQL4 RECQL HELLS
3 nucleic acid binding GO:0003676 10.07 WRN RECQL5 RECQL4 RECQL FANCM BLM
4 ATP binding GO:0005524 10.06 WRN RECQL5 RECQL4 RECQL RAD51 LIG3
5 DNA binding GO:0003677 10 WRN TERF2 RECQL RAD51 PML LIG3
6 single-stranded DNA binding GO:0003697 9.78 RAD51 BRCA2 BLM
7 damaged DNA binding GO:0003684 9.78 UNG H2AX FEN1 BRCA1
8 DNA helicase activity GO:0003678 9.65 WRN RECQL5 RECQL4 RECQL BLM
9 3'-5' DNA helicase activity GO:0043138 9.63 WRN RECQL4 BLM
10 bubble DNA binding GO:0000405 9.61 WRN RECQL4 BLM
11 four-way junction DNA binding GO:0000400 9.6 WRN BLM
12 G-quadruplex DNA binding GO:0051880 9.58 WRN BLM
13 annealing helicase activity GO:0036310 9.58 RECQL4 RECQL BLM
14 Y-form DNA binding GO:0000403 9.57 WRN BLM
15 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.56 WRN BLM
16 telomeric G-quadruplex DNA binding GO:0061849 9.55 WRN BLM
17 DNA ligase (ATP) activity GO:0003910 9.54 LIG3 LIG1
18 telomeric D-loop binding GO:0061821 9.54 WRN RECQL4 BLM
19 DNA ligase activity GO:0003909 9.52 LIG3 LIG1
20 helicase activity GO:0004386 9.5 WRN RECQL5 RECQL4 RECQL HELLS FANCM
21 forked DNA-dependent helicase activity GO:0061749 9.49 WRN BLM
22 four-way junction helicase activity GO:0009378 9.02 WRN RECQL5 RECQL4 RECQL BLM

Sources for Bloom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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