BLM
MCID: BLM001
MIFTS: 63

Bloom Syndrome (BLM)

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

Aliases & Classifications for Bloom Syndrome

MalaCards integrated aliases for Bloom Syndrome:

Name: Bloom Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Bloom-Torre-Machacek Syndrome 12 54 26
Bls 58 54 76
Blm 58 54 76
Bs 58 54 76
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1 58 76
Congenital Telangiectatic Erythema 54 26
Mgrisce1 58 76
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 54
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1; Mgrisce1 58
Congenital Telangiectatic Erythema Syndrome 12
Bloom's Syndrome 26
Bs; Bls 58
Bsyn 60

Characteristics:

Orphanet epidemiological data:

60
bloom syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
life-threatening infections
predisposition to neoplasia


HPO:

33
bloom syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bloom Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Bloom Syndrome, also known as bloom-torre-machacek syndrome, is related to adermatoglyphia and fanconi anemia, complementation group a. 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, lung and bone, and related phenotypes are malar flattening and recurrent respiratory infections

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

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is... 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 161)
# Related Disease Score Top Affiliating Genes
1 adermatoglyphia 32.1 BLM WRN
2 fanconi anemia, complementation group a 28.9 ATM BLM FANCM FEN1 HELLS RAD51
3 rothmund-thomson syndrome 28.7 BLM HELLS RECQL RECQL4 RECQL5 WRN
4 xeroderma pigmentosum, variant type 28.6 ATM FEN1 HELLS LIG1 RAD51 RECQL
5 werner syndrome 28.6 BLM FEN1 HELLS RECQL RECQL4 RECQL5
6 bare lymphocyte syndrome, type ii 12.0
7 bare lymphocyte syndrome, type i 11.9
8 nijmegen breakage syndrome 11.4
9 hypocalcemia, autosomal dominant 1 11.4
10 microcephaly, growth restriction, and increased sister chromatid exchange 2 11.2
11 blind loop syndrome 11.2
12 leber congenital amaurosis 2 11.2
13 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.1
14 adamantinoma of long bones 11.0
15 congenital eyelid retraction 10.4
16 pulmonary fibrosis 10.3
17 lymphoma 10.3
18 disorganization, mouse, homolog of 10.3
19 spindle cell hemangioma 10.3
20 ataxia-telangiectasia 10.2
21 spondylosis 10.2 HELLS WRN
22 hepatitis 10.1
23 fanconi anemia, complementation group q 10.1 FANCM RAD51
24 wilms tumor 5 10.1
25 wilms tumor 6 10.1
26 b-cell lymphomas 10.1
27 leukemia 10.1
28 autoimmune disease 10.1
29 diffuse large b-cell lymphoma 10.1
30 endophthalmitis 10.1
31 telangiectasis 10.1
32 prostate cancer 10.1
33 prostate cancer, hereditary, 8 10.1
34 prostate cancer, hereditary, 6 10.1
35 deficiency anemia 10.1
36 melanoma 10.1
37 fanconi anemia, complementation group t 10.1 FANCM RAD51
38 dwarfism 10.1
39 bilateral breast cancer 10.0 ATM RAD51
40 fanconi anemia, complementation group r 10.0 FANCM RAD51 WRN
41 congenital hypoplastic anemia 10.0 FANCM RAD51
42 breast cancer 10.0
43 colorectal cancer 10.0
44 ovarian cancer 10.0
45 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
46 myelodysplastic syndrome 10.0
47 lymphosarcoma 10.0
48 rheumatoid arthritis 10.0
49 human immunodeficiency virus type 1 10.0
50 arthritis 10.0

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:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
3 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000246
6 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
7 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
8 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
9 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
10 abnormality of chromosome stability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003220
11 diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002014
12 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
13 spotty hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005585
14 facial telangiectasia in butterfly midface distribution 60 33 hallmark (90%) Very frequent (99-80%) HP:0005598
15 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
16 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
17 high pitched voice 60 33 frequent (33%) Frequent (79-30%) HP:0001620
18 hypoplasia of the zygomatic bone 33 frequent (33%) HP:0010669
19 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
20 hyperhidrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000975
21 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
22 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
23 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
24 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
25 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
26 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
27 azoospermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000027
28 reduced number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0009804
29 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
30 lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002665
31 sacral dimple 60 33 occasional (7.5%) Occasional (29-5%) HP:0000960
32 decreased fertility in females 60 33 occasional (7.5%) Occasional (29-5%) HP:0000868
33 squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002860
34 neoplasm of the gastrointestinal tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0007378
35 decreased circulating iga level 33 occasional (7.5%) HP:0002720
36 decreased circulating total igm 33 occasional (7.5%) HP:0002850
37 decreased circulating igg level 33 occasional (7.5%) HP:0004315
38 type ii diabetes mellitus 33 HP:0005978
39 neoplasm 60 Very frequent (99-80%)
40 cryptorchidism 33 HP:0000028
41 specific learning disability 33 HP:0001328
42 decreased antibody level in blood 60 Occasional (29-5%)
43 clinodactyly of the 5th finger 33 HP:0004209
44 telangiectasia of the skin 60 Frequent (79-30%)
45 abnormality of the face 60 Frequent (79-30%)
46 cheekbone underdevelopment 60 Frequent (79-30%)
47 abnormality of the nose 60 Very frequent (99-80%)
48 bronchiectasis 33 HP:0002110
49 prominent nose 33 HP:0000448
50 iga deficiency 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly
dolichocephaly

Neoplasia:
lymphoma
squamous cell carcinoma
leukemia
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

Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia

Respiratory Airways:
bronchiectasis

Skin Nails Hair Skin:
spotty hyperpigmentation
hypertrichosis
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:

27 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.45 ATM HELLS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.45 ATM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.45 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.45 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.45 LIG1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.45 LIG1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.45 LIG3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.45 ATM HELLS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.45 ATM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.45 ATM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.45 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.45 LIG1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.45 LIG3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.45 LIG1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.45 LIG3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.45 ATM LIG3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.45 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.45 ATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.45 LIG1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.45 HELLS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.45 HELLS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.45 LIG1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.45 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.45 LIG1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.45 HELLS LIG1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.45 ATM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.45 ATM LIG1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.45 LIG1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.45 LIG3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.45 ATM HELLS LIG1 LIG3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.45 HELLS
32 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
33 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
34 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM BLM FANCM FEN1 LIG1 LIG3

MGI Mouse Phenotypes related to Bloom Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 ATM BLM FANCM FEN1 HELLS LIG1
2 embryo MP:0005380 10.01 ATM BLM FEN1 HELLS LIG1 LIG3
3 growth/size/body region MP:0005378 9.97 ATM BLM FEN1 HELLS LIG1 LIG3
4 endocrine/exocrine gland MP:0005379 9.91 ATM FANCM FEN1 HELLS LIG1 RECQL4
5 hematopoietic system MP:0005397 9.86 ATM BLM FANCM FEN1 HELLS LIG1
6 adipose tissue MP:0005375 9.85 ATM FEN1 HELLS RECQL4 WRN
7 mortality/aging MP:0010768 9.65 ATM BLM FANCM FEN1 HELLS LIG1
8 integument MP:0010771 9.63 ATM BLM HELLS LIG1 RECQL4 WRN
9 neoplasm MP:0002006 9.17 ATM BLM FANCM FEN1 LIG1 RECQL4

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
2 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817 Not Applicable

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 30 BLM

Anatomical Context for Bloom Syndrome

MalaCards organs/tissues related to Bloom Syndrome:

42
Skin, Lung, Bone, Colon, Breast, B Cells, Myeloid

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(show top 50) (show all 233)
# Title Authors Year
1
NMR Investigation of the Interaction between the RecQ C-Terminal Domain of Human Bloom Syndrome Protein and G-Quadruplex DNA from the Human c-Myc Promoter. ( 30639410 )
2019
2
Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge. ( 29794356 )
2018
3
Interaction of replication protein A with two acidic peptides from human Bloom syndrome protein. ( 29388204 )
2018
4
Bloom syndrome does not always present with sun-sensitive facial erythema. ( 29056561 )
2018
5
miR-522-3p promotes tumorigenesis in human colorectal cancer via targeting bloom syndrome protein. ( 29386092 )
2018
6
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families. ( 29610394 )
2018
7
Health supervision for people with Bloom syndrome. ( 30055079 )
2018
8
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. ( 30057030 )
2018
9
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. ( 30193137 )
2018
10
Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria. ( 30410776 )
2018
11
Bloom Syndrome (Congenital Telangiectatic Erythema) ( 28846287 )
2017
12
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. ( 27989672 )
2017
13
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein. ( 28792069 )
2017
14
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. ( 28611551 )
2017
15
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
16
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks. ( 28058110 )
2016
17
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. ( 27185886 )
2016
18
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. ( 26788541 )
2016
19
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. ( 26919505 )
2016
20
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. ( 27966805 )
2016
21
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. ( 27597923 )
2016
22
Burkitt lymphoma in a child with Bloom syndrome. ( 26774895 )
2016
23
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
24
Bloom syndrome with extensive pulmonary involvement in a child. ( 25814763 )
2015
25
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. ( 26340805 )
2015
26
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. ( 25673821 )
2015
27
23andme obtains permission to market Bloom syndrome test. ( 26017705 )
2015
28
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. ( 24435566 )
2014
29
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? ( 25341612 )
2014
30
Bloom syndrome. ( 24602044 )
2014
31
Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM. ( 25766002 )
2014
32
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. ( 24257077 )
2013
33
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. ( 23708797 )
2013
34
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. ( 24377487 )
2013
35
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. ( 24118499 )
2013
36
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. ( 23509288 )
2013
37
Bloom syndrome: report of two cases in siblings. ( 22998028 )
2013
38
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. ( 23908384 )
2013
39
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. ( 23928670 )
2013
40
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. ( 23572515 )
2013
41
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. ( 24932421 )
2013
42
Proton beam therapy for malignancy in Bloom syndrome. ( 23443610 )
2013
43
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. ( 23110454 )
2012
44
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. ( 23129629 )
2012
45
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. ( 22392978 )
2012
46
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. ( 22272300 )
2012
47
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. ( 21778134 )
2011
48
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. ( 21730139 )
2011
49
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. ( 21712816 )
2011
50
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. ( 21736299 )
2011

Variations for Bloom Syndrome

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

76
# 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

ClinVar genetic disease variations for Bloom Syndrome:

6 (show top 50) (show all 1406)
# Gene Variation Type Significance SNP ID Assembly Location
1 BLM NM_000057.3(BLM): c.3949G> A (p.Glu1317Lys) single nucleotide variant Uncertain significance rs730880251 GRCh37 Chromosome 15, 91354509: 91354509
2 BLM NM_000057.3(BLM): c.3949G> A (p.Glu1317Lys) single nucleotide variant Uncertain significance rs730880251 GRCh38 Chromosome 15, 90811279: 90811279
3 BLM NM_000057.3(BLM): c.645C> T (p.Ser215=) single nucleotide variant Likely benign rs56218710 GRCh38 Chromosome 15, 90749913: 90749913
4 BLM NM_000057.3(BLM): c.645C> T (p.Ser215=) single nucleotide variant Likely benign rs56218710 GRCh37 Chromosome 15, 91293143: 91293143
5 BLM NM_000057.3(BLM): c.1358T> G (p.Leu453Ter) single nucleotide variant Pathogenic rs730881428 GRCh38 Chromosome 15, 90760731: 90760731
6 BLM NM_000057.3(BLM): c.1358T> G (p.Leu453Ter) single nucleotide variant Pathogenic rs730881428 GRCh37 Chromosome 15, 91303961: 91303961
7 BLM NM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs) deletion Likely pathogenic rs367543026 GRCh38 Chromosome 15, 90749849: 90749850
8 BLM NM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs) deletion Likely pathogenic rs367543026 GRCh37 Chromosome 15, 91293079: 91293080
9 BLM NM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs) deletion Pathogenic/Likely pathogenic rs786204524 GRCh38 Chromosome 15, 90754842: 90754846
10 BLM NM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs) deletion Pathogenic/Likely pathogenic rs786204524 GRCh37 Chromosome 15, 91298072: 91298076
11 BLM NM_000057.3(BLM): c.2015A> G (p.Gln672Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747281324 GRCh38 Chromosome 15, 90763098: 90763098
12 BLM NM_000057.3(BLM): c.2015A> G (p.Gln672Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747281324 GRCh37 Chromosome 15, 91306328: 91306328
13 BLM NM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs) insertion Pathogenic/Likely pathogenic rs786204471 GRCh38 Chromosome 15, 90766966: 90766967
14 BLM NM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs) insertion Pathogenic/Likely pathogenic rs786204471 GRCh37 Chromosome 15, 91310196: 91310197
15 BLM NM_000057.3(BLM): c.3028delG (p.Asp1010Metfs) deletion Pathogenic/Likely pathogenic rs780379121 GRCh38 Chromosome 15, 90794175: 90794175
16 BLM NM_000057.3(BLM): c.3028delG (p.Asp1010Metfs) deletion Pathogenic/Likely pathogenic rs780379121 GRCh37 Chromosome 15, 91337405: 91337405
17 BLM NM_000057.3(BLM): c.205G> A (p.Glu69Lys) single nucleotide variant Uncertain significance rs746195311 GRCh37 Chromosome 15, 91292703: 91292703
18 BLM NM_000057.3(BLM): c.205G> A (p.Glu69Lys) single nucleotide variant Uncertain significance rs746195311 GRCh38 Chromosome 15, 90749473: 90749473
19 BLM NM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs) insertion Likely pathogenic rs797045115 GRCh38 Chromosome 15, 90790839: 90790840
20 BLM NM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs) insertion Likely pathogenic rs797045115 GRCh37 Chromosome 15, 91334069: 91334070
21 BLM NM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs) deletion Pathogenic rs864622347 GRCh38 Chromosome 15, 90782846: 90782847
22 BLM NM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs) deletion Pathogenic rs864622347 GRCh37 Chromosome 15, 91326076: 91326077
23 BLM NM_000057.3(BLM): c.3558+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs148969222 GRCh37 Chromosome 15, 91346951: 91346951
24 BLM NM_000057.3(BLM): c.3558+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs148969222 GRCh38 Chromosome 15, 90803721: 90803721
25 BLM NM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) indel Pathogenic rs113993962 GRCh37 Chromosome 15, 91310153: 91310158
26 BLM NM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) indel Pathogenic rs113993962 GRCh38 Chromosome 15, 90766923: 90766928
27 BLM NM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh37 Chromosome 15, 91293055: 91293057
28 BLM NM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh38 Chromosome 15, 90749825: 90749827
29 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh37 Chromosome 15, 91337484: 91337484
30 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh38 Chromosome 15, 90794254: 90794254
31 BLM NM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs) deletion Pathogenic rs367543018 GRCh38 Chromosome 15, 90804195: 90804195
32 BLM NM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs) deletion Pathogenic rs367543020 GRCh37 Chromosome 15, 91347519: 91347519
33 BLM NM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs) deletion Pathogenic rs367543020 GRCh38 Chromosome 15, 90804289: 90804289
34 BLM NM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs) duplication Pathogenic rs367543021 GRCh37 Chromosome 15, 91347565: 91347565
35 BLM NM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs) duplication Pathogenic rs367543021 GRCh38 Chromosome 15, 90804335: 90804335
36 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh37 Chromosome 15, 91303375: 91303375
37 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh38 Chromosome 15, 90760145: 90760145
38 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh37 Chromosome 15, 91304147: 91304147
39 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh38 Chromosome 15, 90760917: 90760917
40 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh37 Chromosome 15, 91304231: 91304231
41 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh38 Chromosome 15, 90761001: 90761001
42 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Likely pathogenic rs367543036 GRCh37 Chromosome 15, 91306388: 91306388
43 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Likely pathogenic rs367543036 GRCh38 Chromosome 15, 90763158: 90763158
44 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh37 Chromosome 15, 91308549: 91308549
45 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh38 Chromosome 15, 90765319: 90765319
46 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh37 Chromosome 15, 91308646: 91308646
47 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh38 Chromosome 15, 90765416: 90765416
48 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh37 Chromosome 15, 91311410: 91317535
49 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh38 Chromosome 15, 90768180: 90774305
50 BLM NM_000057.3(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 GRCh37 Chromosome 15, 91312463: 91312463

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:

38
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 ATM BLM FEN1 LIG1 RAD51 WRN
2
Show member pathways
12.57 FEN1 LIG1 LIG3 WRN
3
Show member pathways
12.56 ATM BLM FANCM FEN1 LIG1 LIG3
4
Show member pathways
12.33 ATM FEN1 LIG1 LIG3 RAD51
5
Show member pathways
11.97 ATM BLM RAD51 WRN
6 11.84 ATM BLM RAD51
7
Show member pathways
11.74 ATM BLM RAD51 WRN
8 11.7 ATM BLM FEN1 RAD51 RECQL RECQL4
9 11.58 BLM FANCM RAD51
10 11.4 ATM BLM WRN
11
Show member pathways
11.38 ATM BLM HELLS RAD51
12 11.21 ATM BLM
13 11.18 ATM BLM
14 10.97 ATM RAD51
15 10.87 FEN1 WRN

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 9.93 ATM BLM FANCM FEN1 HELLS LIG1
2 nucleolus GO:0005730 9.83 ATM BLM FEN1 RAD51 WRN
3 chromosome GO:0005694 9.65 BLM RECQL RECQL4 RECQL5 WRN
4 nucleoplasm GO:0005654 9.65 ATM BLM FANCM FEN1 LIG1 LIG3
5 nuclear chromosome, telomeric region GO:0000784 9.54 ATM FEN1 RAD51
6 replication fork GO:0005657 9.4 BLM WRN
7 lateral element GO:0000800 9.32 BLM RAD51
8 chromosome, telomeric region GO:0000781 8.92 ATM BLM RECQL4 WRN

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.98 ATM HELLS LIG1 LIG3 RECQL5
2 cellular response to DNA damage stimulus GO:0006974 9.97 ATM BLM FANCM FEN1 LIG1 LIG3
3 cell division GO:0051301 9.93 HELLS LIG1 LIG3 RECQL5
4 DNA repair GO:0006281 9.9 ATM BLM FANCM FEN1 LIG1 LIG3
5 DNA replication GO:0006260 9.86 ATM BLM FEN1 LIG1 LIG3 RECQL4
6 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.8 FANCM FEN1 WRN
7 DNA duplex unwinding GO:0032508 9.77 BLM RECQL RECQL4 RECQL5 WRN
8 base-excision repair GO:0006284 9.76 FEN1 LIG1 RECQL4 WRN
9 double-strand break repair GO:0006302 9.72 FEN1 LIG3 WRN
10 telomere maintenance GO:0000723 9.71 ATM RECQL4 WRN
11 replication fork processing GO:0031297 9.71 BLM FANCM RAD51 WRN
12 DNA metabolic process GO:0006259 9.69 RAD51 RECQL5 WRN
13 DNA strand renaturation GO:0000733 9.67 BLM RECQL RECQL4
14 interstrand cross-link repair GO:0036297 9.66 FANCM RAD51
15 cellular response to ionizing radiation GO:0071479 9.66 BLM RAD51
16 DNA biosynthetic process GO:0071897 9.65 LIG1 LIG3
17 reciprocal meiotic recombination GO:0007131 9.65 ATM RAD51
18 cellular response to gamma radiation GO:0071480 9.65 ATM WRN
19 telomeric D-loop disassembly GO:0061820 9.65 BLM RECQL4 WRN
20 nucleotide-excision repair, DNA gap filling GO:0006297 9.64 LIG1 LIG3
21 response to X-ray GO:0010165 9.64 BLM RECQL5
22 resolution of meiotic recombination intermediates GO:0000712 9.63 BLM FANCM
23 DNA double-strand break processing GO:0000729 9.62 ATM BLM
24 cellular metabolic process GO:0044237 9.61 BLM WRN
25 t-circle formation GO:0090656 9.61 BLM WRN
26 cellular response to camptothecin GO:0072757 9.61 BLM RAD51 RECQL5
27 DNA synthesis involved in DNA repair GO:0000731 9.6 BLM WRN
28 V(D)J recombination GO:0033151 9.59 LIG1 LIG3
29 DNA ligation GO:0006266 9.58 LIG1 LIG3
30 DNA ligation involved in DNA repair GO:0051103 9.57 LIG1 LIG3
31 G-quadruplex DNA unwinding GO:0044806 9.56 BLM WRN
32 DNA recombination GO:0006310 9.56 BLM LIG1 LIG3 RAD51 RECQL RECQL4
33 lagging strand elongation GO:0006273 9.52 LIG1 LIG3
34 double-strand break repair via homologous recombination GO:0000724 9.23 BLM FEN1 LIG3 RAD51 RECQL RECQL4

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.92 FANCM HELLS RAD51 WRN
2 nucleotide binding GO:0000166 9.91 ATM BLM RAD51 RECQL5
3 helicase activity GO:0004386 9.8 BLM FANCM HELLS RECQL RECQL4 RECQL5
4 nuclease activity GO:0004518 9.78 FANCM FEN1 WRN
5 single-stranded DNA binding GO:0003697 9.77 BLM RAD51 RECQL4
6 DNA helicase activity GO:0003678 9.71 BLM RECQL RECQL5 WRN
7 ATP-dependent DNA helicase activity GO:0004003 9.7 BLM RECQL WRN
8 annealing helicase activity GO:0036310 9.65 BLM RECQL RECQL4
9 DNA-dependent ATPase activity GO:0008094 9.63 BLM RAD51
10 bubble DNA binding GO:0000405 9.63 BLM RECQL4 WRN
11 telomeric D-loop binding GO:0061821 9.61 BLM RECQL4 WRN
12 four-way junction DNA binding GO:0000400 9.6 BLM WRN
13 G-quadruplex DNA binding GO:0051880 9.58 BLM WRN
14 Y-form DNA binding GO:0000403 9.58 BLM WRN
15 DNA ligase activity GO:0003909 9.57 LIG1 LIG3
16 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.56 BLM WRN
17 DNA ligase (ATP) activity GO:0003910 9.55 LIG1 LIG3
18 ATP-dependent helicase activity GO:0008026 9.55 BLM RECQL RECQL4 RECQL5 WRN
19 telomeric G-quadruplex DNA binding GO:0061849 9.54 BLM WRN
20 forked DNA-dependent helicase activity GO:0061749 9.51 BLM WRN
21 ATP-dependent 3'-5' DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
22 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
23 DNA binding GO:0003677 10.11 ATM BLM FANCM FEN1 LIG1 LIG3
24 hydrolase activity GO:0016787 10.1 BLM FANCM FEN1 HELLS RECQL RECQL4
25 ATP binding GO:0005524 10.06 ATM BLM FANCM HELLS LIG1 LIG3
26 nucleic acid binding GO:0003676 10.02 BLM RECQL RECQL4 RECQL5 WRN

Sources for Bloom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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