MCID: BLM001
MIFTS: 60

Bloom Syndrome

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

Aliases & Classifications for Bloom Syndrome

MalaCards integrated aliases for Bloom Syndrome:

Name: Bloom Syndrome 57 12 76 53 25 59 75 37 29 13 55 6 44 15 40 73
Bloom-Torre-Machacek Syndrome 12 53 25
Bls 57 53 75
Blm 57 53 75
Bs 57 53 75
Congenital Telangiectatic Erythema 53 25
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 53
Congenital Telangiectatic Erythema Syndrome 12
Bloom’s Syndrome 24
Bloom's Syndrome 25
Bs; Bls 57
Bsyn 59

Characteristics:

Orphanet epidemiological data:

59
bloom syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
life-threatening infections
predisposition to neoplasia


HPO:

32
bloom syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bloom Syndrome

NIH Rare Diseases : 53 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 xeroderma pigmentosum, variant type and fanconi anemia, complementation group a. An important gene associated with Bloom Syndrome is BLM (Bloom Syndrome 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 finger syndactyly

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 : 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 40)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, variant type 28.3 ATM FEN1 RAD51 RECQL
2 fanconi anemia, complementation group a 28.2 ATM BLM FANCM FEN1 HELLS RAD51
3 rothmund-thomson syndrome 27.6 BLM HELLS RECQL RECQL4 RECQL5 WRN
4 werner syndrome 27.0 BLM FEN1 HELLS RECQL RECQL4 RECQL5
5 nijmegen breakage syndrome 11.3
6 hypocalcemia, autosomal dominant 1 11.2
7 adermatoglyphia 10.5 BLM WRN
8 spondylosis 10.4 HELLS WRN
9 lymphoma 10.2
10 bilateral breast cancer 10.1 ATM RAD51
11 ataxia-telangiectasia 10.1
12 acoustic neuroma 10.0 LIG1 RAD51
13 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
14 wilms tumor 5 9.9
15 wilms tumor 6 9.9
16 b-cell lymphomas 9.9
17 leukemia 9.9
18 colorectal cancer 9.9
19 ovarian cancer 9.9
20 aging 9.9
21 gastric cancer 9.9
22 lymphosarcoma 9.9
23 congenital hypoplastic anemia 9.8 FANCM RAD51
24 alzheimer disease 9.7
25 burkitt lymphoma 9.7
26 breast cancer 9.7
27 hepatocellular carcinoma 9.7
28 dubowitz syndrome 9.7
29 lecithin:cholesterol acyltransferase deficiency 9.7
30 basal cell carcinoma 1 9.7
31 leukemia, acute lymphoblastic 9.7
32 myelodysplastic syndrome 9.7
33 acute leukemia 9.7
34 lymphoblastic leukemia 9.7
35 squamous cell carcinoma 9.7
36 basal cell carcinoma 9.7
37 adenocarcinoma 9.7
38 uv-sensitive syndrome 9.7 FEN1 LIG1 RAD51
39 baller-gerold syndrome 9.3 RECQL RECQL4 RECQL5 WRN
40 rapadilino syndrome 9.0 HELLS RECQL RECQL4 RECQL5 WRN

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



Diseases related to Bloom Syndrome

Symptoms & Phenotypes for Bloom Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Bloom Syndrome:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
3 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
4 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
5 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
6 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
7 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
10 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
11 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
12 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
13 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
14 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
15 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
16 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
17 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
18 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
19 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
20 azoospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000027
21 reduced number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0009804
22 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
23 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
24 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
25 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
26 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
27 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
28 high pitched voice 59 32 frequent (33%) Frequent (79-30%) HP:0001620
29 iga deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002720
30 decreased fertility in females 59 32 occasional (7.5%) Occasional (29-5%) HP:0000868
31 igm deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002850
32 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
33 igg deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0004315
34 spotty hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005585
35 facial telangiectasia in butterfly midface distribution 59 32 hallmark (90%) Very frequent (99-80%) HP:0005598
36 neoplasm of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0007378
37 type ii diabetes mellitus 32 HP:0005978
38 neoplasm 59 Very frequent (99-80%)
39 cryptorchidism 32 HP:0000028
40 specific learning disability 32 HP:0001328
41 decreased antibody level in blood 59 Occasional (29-5%)
42 clinodactyly of the 5th finger 32 HP:0004209
43 telangiectasia of the skin 59 Frequent (79-30%)
44 abnormality of the face 59 Frequent (79-30%)
45 cheekbone underdevelopment 59 Frequent (79-30%)
46 abnormality of the nose 59 Very frequent (99-80%)
47 bronchiectasis 32 HP:0002110
48 prominent nose 32 HP:0000448
49 abnormality of the skin 59 Very frequent (99-80%)
50 cafe-au-lait spot 32 HP:0000957

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 RECQL4 RECQL5 WRN ATM BLM FANCM

MGI Mouse Phenotypes related to Bloom Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ATM BLM FANCM FEN1 HELLS LIG1
2 embryo MP:0005380 10.03 ATM BLM FEN1 HELLS LIG1 LIG3
3 growth/size/body region MP:0005378 10.02 RECQL4 WRN ATM BLM FEN1 HELLS
4 hematopoietic system MP:0005397 9.97 WRN ATM BLM FANCM FEN1 HELLS
5 endocrine/exocrine gland MP:0005379 9.95 ATM FANCM FEN1 HELLS LIG1 RECQL4
6 adipose tissue MP:0005375 9.88 ATM FEN1 HELLS RECQL4 WRN
7 immune system MP:0005387 9.86 RECQL4 WRN ATM BLM FEN1 HELLS
8 mortality/aging MP:0010768 9.7 ATM BLM FANCM FEN1 HELLS LIG1
9 integument MP:0010771 9.63 ATM BLM HELLS LIG1 RECQL4 WRN
10 neoplasm MP:0002006 9.23 RECQL4 WRN ATM BLM FANCM FEN1

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:

41
Skin, Lung, Bone, Colon, Breast, B Cells, Myeloid

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(show top 50) (show all 229)
# Title Authors Year
1
Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge. ( 29794356 )
2018
2
Interaction of replication protein A with two acidic peptides from human Bloom syndrome protein. ( 29388204 )
2018
3
Bloom syndrome does not always present with sun-sensitive facial erythema. ( 29056561 )
2018
4
miR-522-3p promotes tumorigenesis in human colorectal cancer via targeting bloom syndrome protein. ( 29386092 )
2018
5
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families. ( 29610394 )
2018
6
Bloom Syndrome (Congenital Telangiectatic Erythema) ( 28846287 )
2017
7
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. ( 27989672 )
2017
8
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein. ( 28792069 )
2017
9
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
10
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
11
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks. ( 28058110 )
2016
12
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. ( 27185886 )
2016
13
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. ( 26788541 )
2016
14
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. ( 26919505 )
2016
15
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. ( 27966805 )
2016
16
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. ( 27597923 )
2016
17
Burkitt lymphoma in a child with Bloom syndrome. ( 26774895 )
2016
18
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
19
Bloom syndrome with extensive pulmonary involvement in a child. ( 25814763 )
2015
20
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. ( 26340805 )
2015
21
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. ( 25673821 )
2015
22
23andme obtains permission to market Bloom syndrome test. ( 26017705 )
2015
23
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. ( 24435566 )
2014
24
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? ( 25341612 )
2014
25
Bloom syndrome. ( 24602044 )
2014
26
Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM. ( 25766002 )
2014
27
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. ( 24257077 )
2013
28
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. ( 23708797 )
2013
29
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. ( 24377487 )
2013
30
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. ( 24118499 )
2013
31
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. ( 23509288 )
2013
32
Bloom syndrome: report of two cases in siblings. ( 22998028 )
2013
33
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. ( 23908384 )
2013
34
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. ( 23928670 )
2013
35
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. ( 23572515 )
2013
36
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. ( 24932421 )
2013
37
Proton beam therapy for malignancy in Bloom syndrome. ( 23443610 )
2013
38
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. ( 23110454 )
2012
39
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. ( 23129629 )
2012
40
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. ( 22392978 )
2012
41
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. ( 22272300 )
2012
42
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. ( 21778134 )
2011
43
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. ( 21730139 )
2011
44
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. ( 21712816 )
2011
45
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. ( 21736299 )
2011
46
Augmented cell death with Bloom syndrome helicase deficiency. ( 21567087 )
2011
47
Critical interaction domains between bloom syndrome protein and RAD51. ( 21113733 )
2011
48
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. ( 22183041 )
2011
49
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. ( 21300576 )
2011
50
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential. ( 19966276 )
2010

Variations for Bloom Syndrome

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

75
# 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 854)
# Gene Variation Type Significance SNP ID Assembly Location
1 BLM NM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) indel Pathogenic rs113993962 GRCh37 Chromosome 15, 91310153: 91310158
2 BLM NM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) indel Pathogenic rs113993962 GRCh38 Chromosome 15, 90766923: 90766928
3 BLM NM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh37 Chromosome 15, 91293055: 91293057
4 BLM NM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh38 Chromosome 15, 90749825: 90749827
5 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh37 Chromosome 15, 91337484: 91337484
6 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh38 Chromosome 15, 90794254: 90794254
7 BLM NM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs) deletion Pathogenic rs367543018 GRCh38 Chromosome 15, 90804195: 90804195
8 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh37 Chromosome 15, 91303375: 91303375
9 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh38 Chromosome 15, 90760145: 90760145
10 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh37 Chromosome 15, 91304147: 91304147
11 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh38 Chromosome 15, 90760917: 90760917
12 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh37 Chromosome 15, 91304231: 91304231
13 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh38 Chromosome 15, 90761001: 90761001
14 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Likely pathogenic rs367543036 GRCh37 Chromosome 15, 91306388: 91306388
15 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Likely pathogenic rs367543036 GRCh38 Chromosome 15, 90763158: 90763158
16 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh37 Chromosome 15, 91308549: 91308549
17 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh38 Chromosome 15, 90765319: 90765319
18 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh37 Chromosome 15, 91308646: 91308646
19 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh38 Chromosome 15, 90765416: 90765416
20 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh37 Chromosome 15, 91311410: 91317535
21 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh38 Chromosome 15, 90768180: 90774305
22 BLM NM_000057.3(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 GRCh37 Chromosome 15, 91312463: 91312463
23 BLM NM_000057.3(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 GRCh38 Chromosome 15, 90769233: 90769233
24 BLM NM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs) deletion Pathogenic rs367543024 GRCh37 Chromosome 15, 91312767: 91312768
25 BLM NM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs) deletion Pathogenic rs367543024 GRCh38 Chromosome 15, 90769537: 90769538
26 BLM NM_000057.3(BLM): c.2643G> A (p.Trp881Ter) single nucleotide variant Pathogenic rs367543039 GRCh37 Chromosome 15, 91326139: 91326139
27 BLM NM_000057.3(BLM): c.2643G> A (p.Trp881Ter) single nucleotide variant Pathogenic rs367543039 GRCh38 Chromosome 15, 90782909: 90782909
28 BLM NM_000057.3(BLM): c.275delA (p.Asn92Metfs) deletion Pathogenic rs367543027 GRCh37 Chromosome 15, 91292773: 91292773
29 BLM NM_000057.3(BLM): c.275delA (p.Asn92Metfs) deletion Pathogenic rs367543027 GRCh38 Chromosome 15, 90749543: 90749543
30 BLM NM_000057.3(BLM): c.2855G> T (p.Gly952Val) single nucleotide variant Pathogenic rs367543034 GRCh37 Chromosome 15, 91333910: 91333910
31 BLM NM_000057.3(BLM): c.2855G> T (p.Gly952Val) single nucleotide variant Pathogenic rs367543034 GRCh38 Chromosome 15, 90790680: 90790680
32 BLM NM_000057.3(BLM): c.2887C> T (p.His963Tyr) single nucleotide variant Pathogenic rs367543023 GRCh37 Chromosome 15, 91333942: 91333942
33 BLM NM_000057.3(BLM): c.2887C> T (p.His963Tyr) single nucleotide variant Pathogenic rs367543023 GRCh38 Chromosome 15, 90790712: 90790712
34 BLM NM_000057.3(BLM): c.2923delC (p.Gln975Lysfs) deletion Pathogenic rs367543014 GRCh37 Chromosome 15, 91333978: 91333978
35 BLM NM_000057.3(BLM): c.2923delC (p.Gln975Lysfs) deletion Pathogenic rs367543014 GRCh38 Chromosome 15, 90790748: 90790748
36 BLM NM_000057.3(BLM): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs367543030 GRCh37 Chromosome 15, 91292809: 91292809
37 BLM NM_000057.3(BLM): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs367543030 GRCh38 Chromosome 15, 90749579: 90749579
38 BLM NM_000057.3(BLM): c.3164G> C (p.Cys1055Ser) single nucleotide variant Pathogenic/Likely pathogenic rs367543029 GRCh37 Chromosome 15, 91337541: 91337541
39 BLM NM_000057.3(BLM): c.3164G> C (p.Cys1055Ser) single nucleotide variant Pathogenic/Likely pathogenic rs367543029 GRCh38 Chromosome 15, 90794311: 90794311
40 BLM NM_000057.3(BLM): c.3191A> T (p.Asp1064Val) single nucleotide variant Pathogenic rs367543032 GRCh37 Chromosome 15, 91337568: 91337568
41 BLM NM_000057.3(BLM): c.3191A> T (p.Asp1064Val) single nucleotide variant Pathogenic rs367543032 GRCh38 Chromosome 15, 90794338: 90794338
42 BLM NM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr) single nucleotide variant Pathogenic rs367543025 GRCh37 Chromosome 15, 91337574: 91337574
43 BLM NM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr) single nucleotide variant Pathogenic rs367543025 GRCh38 Chromosome 15, 90794344: 90794344
44 BLM NM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs) duplication Pathogenic rs367543022 GRCh37 Chromosome 15, 91341432: 91341432
45 BLM NM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs) duplication Pathogenic rs367543022 GRCh38 Chromosome 15, 90798202: 90798202
46 BLM NM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs) insertion Pathogenic rs367543037 GRCh37 Chromosome 15, 91341464: 91341465
47 BLM NM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs) insertion Pathogenic rs367543037 GRCh38 Chromosome 15, 90798234: 90798235
48 BLM NM_000057.3(BLM): c.3278C> G (p.Ser1093Ter) single nucleotide variant Pathogenic rs367543017 GRCh37 Chromosome 15, 91341487: 91341487
49 BLM NM_000057.3(BLM): c.3278C> G (p.Ser1093Ter) single nucleotide variant Pathogenic rs367543017 GRCh38 Chromosome 15, 90798257: 90798257
50 BLM NM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs) deletion Likely pathogenic rs367543033 GRCh37 Chromosome 15, 91346867: 91346868

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:

37
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 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
12.37 ATM FEN1 LIG1 LIG3 RAD51
5
Show member pathways
12.08 ATM PML RAD51
6
Show member pathways
12 ATM BLM RAD51 WRN
7 11.81 ATM BLM PML RAD51
8
Show member pathways
11.74 ATM BLM RAD51 WRN
9 11.7 ATM BLM FEN1 RAD51 RECQL RECQL4
10 11.61 BLM FANCM RAD51
11 11.43 ATM BLM WRN
12
Show member pathways
11.38 ATM BLM HELLS RAD51
13 10.97 ATM RAD51
14 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 9.97 ATM BLM FANCM FEN1 HELLS LIG1
2 nucleolus GO:0005730 9.88 ATM BLM FEN1 PML RAD51 WRN
3 chromosome GO:0005694 9.77 BLM RECQL RECQL4 RECQL5 WRN
4 nuclear chromosome, telomeric region GO:0000784 9.62 ATM FEN1 PML RAD51
5 PML body GO:0016605 9.61 BLM PML RAD51
6 lateral element GO:0000800 9.46 BLM RAD51
7 replication fork GO:0005657 9.43 BLM RAD51 WRN
8 nucleoplasm GO:0005654 9.36 ATM BLM FANCM FEN1 LIG1 LIG3
9 chromosome, telomeric region GO:0000781 9.26 ATM BLM RECQL4 WRN
10 cytoplasm GO:0005737 10.18 ATM BLM LIG1 LIG3 PML RAD51

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.97 ATM BLM FANCM FEN1 LIG1 LIG3
2 cell division GO:0051301 9.94 HELLS LIG1 LIG3 RECQL5
3 DNA replication GO:0006260 9.86 ATM BLM FEN1 LIG1 LIG3 RECQL4
4 regulation of signal transduction by p53 class mediator GO:1901796 9.85 ATM BLM PML WRN
5 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.81 FANCM FEN1 WRN
6 base-excision repair GO:0006284 9.8 FEN1 LIG1 RECQL4 WRN
7 DNA synthesis involved in DNA repair GO:0000731 9.78 ATM BLM RAD51 WRN
8 DNA duplex unwinding GO:0032508 9.77 BLM RECQL RECQL4 RECQL5 WRN
9 replication fork processing GO:0031297 9.76 BLM FANCM RAD51 WRN
10 DNA recombination GO:0006310 9.76 BLM LIG1 LIG3 RAD51 RECQL RECQL4
11 double-strand break repair GO:0006302 9.75 FEN1 LIG3 WRN
12 telomere maintenance GO:0000723 9.74 ATM RECQL4 WRN
13 DNA metabolic process GO:0006259 9.73 RAD51 RECQL5 WRN
14 V(D)J recombination GO:0033151 9.71 ATM LIG1 LIG3
15 strand displacement GO:0000732 9.71 ATM BLM RAD51 WRN
16 telomeric D-loop disassembly GO:0061820 9.7 BLM RECQL4 WRN
17 DNA repair GO:0006281 9.7 ATM BLM FANCM FEN1 LIG1 LIG3
18 DNA strand renaturation GO:0000733 9.69 BLM RECQL RECQL4
19 DNA biosynthetic process GO:0071897 9.67 LIG1 LIG3
20 cellular response to ionizing radiation GO:0071479 9.66 BLM RAD51
21 reciprocal meiotic recombination GO:0007131 9.66 ATM RAD51
22 cell aging GO:0007569 9.65 PML WRN
23 cellular response to gamma radiation GO:0071480 9.65 ATM WRN
24 nucleotide-excision repair, DNA gap filling GO:0006297 9.65 LIG1 LIG3
25 DNA double-strand break processing GO:0000729 9.63 ATM BLM
26 cellular metabolic process GO:0044237 9.63 BLM WRN
27 DNA ligation GO:0006266 9.62 LIG1 LIG3
28 t-circle formation GO:0090656 9.62 BLM WRN
29 DNA ligation involved in DNA repair GO:0051103 9.61 LIG1 LIG3
30 cellular response to camptothecin GO:0072757 9.61 BLM RAD51 RECQL5
31 chromosome organization involved in meiotic cell cycle GO:0070192 9.6 ATM RAD51
32 lagging strand elongation GO:0006273 9.59 LIG1 LIG3
33 G-quadruplex DNA unwinding GO:0044806 9.58 BLM WRN
34 double-strand break repair via homologous recombination GO:0000724 9.28 ATM BLM FEN1 LIG3 RAD51 RECQL
35 cell cycle GO:0007049 10.01 ATM HELLS LIG1 LIG3 RECQL5

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.8 BLM FANCM HELLS RECQL RECQL4 RECQL5
2 nuclease activity GO:0004518 9.77 FANCM FEN1 WRN
3 DNA helicase activity GO:0003678 9.71 BLM RECQL RECQL5 WRN
4 ATP-dependent DNA helicase activity GO:0004003 9.7 BLM RECQL WRN
5 four-way junction DNA binding GO:0000400 9.67 BLM RAD51 WRN
6 annealing helicase activity GO:0036310 9.65 BLM RECQL RECQL4
7 bubble DNA binding GO:0000405 9.63 BLM RECQL4 WRN
8 DNA-dependent ATPase activity GO:0008094 9.61 BLM RAD51
9 telomeric D-loop binding GO:0061821 9.61 BLM RECQL4 WRN
10 G-quadruplex DNA binding GO:0051880 9.58 BLM WRN
11 DNA ligase (ATP) activity GO:0003910 9.58 LIG1 LIG3
12 Y-form DNA binding GO:0000403 9.57 BLM WRN
13 DNA ligase activity GO:0003909 9.56 LIG1 LIG3
14 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.55 BLM WRN
15 ATP-dependent helicase activity GO:0008026 9.55 BLM RECQL RECQL4 RECQL5 WRN
16 telomeric G-quadruplex DNA binding GO:0061849 9.54 BLM WRN
17 forked DNA-dependent helicase activity GO:0061749 9.51 BLM WRN
18 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
19 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
20 DNA binding GO:0003677 10.15 ATM BLM FANCM FEN1 LIG1 LIG3
21 hydrolase activity GO:0016787 10.14 BLM FANCM FEN1 HELLS RECQL RECQL5
22 ATP binding GO:0005524 10.06 ATM BLM FANCM HELLS LIG1 LIG3
23 nucleic acid binding GO:0003676 10 BLM FANCM RECQL RECQL5 WRN

Sources for Bloom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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