MCID: BLM001
MIFTS: 62

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 53 12 72 72 49 24 55 71 36 28 13 51 41 14 69
Bloom-Torre-Machacek Syndrome 12 49 24
Bls 53 49 71
Blm 53 49 71
Bs 53 49 71
Congenital Telangiectatic Erythema 49 24
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 49
Congenital Telangiectatic Erythema Syndrome 12
Bloom’s Syndrome 23
Bloom's Syndrome 24
Bs; Bls 53
Bsyn 55

Characteristics:

Orphanet epidemiological data:

55
bloom syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
life-threatening infections
predisposition to neoplasia


HPO:

31
bloom syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bloom Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/1/2011

MalaCards based summary : Bloom Syndrome, also known as bloom-torre-machacek syndrome, is related to nijmegen breakage syndrome and fanconi anemia, complementation group a, and has symptoms including diarrhea, malar flattening and finger syndactyly. 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 Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

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

GeneReviews: NBK1398

Related Diseases for Bloom Syndrome

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 31.7 ATM BRCA1 WRN
2 fanconi anemia, complementation group a 28.3 ATM BLM BRCA1 FANCM FEN1 HELLS
3 rothmund-thomson syndrome 28.3 BLM HELLS RECQL RECQL4 RECQL5 WRN
4 werner syndrome 27.9 BLM FEN1 HELLS RECQL RECQL4 RECQL5
5 hypocalcemia, autosomal dominant 1 11.2
6 adermatoglyphia 10.2 BLM WRN
7 lymphoma 10.2
8 spondylosis 10.1 HELLS WRN
9 ataxia-telangiectasia 10.1
10 ataxia and polyneuropathy, adult-onset 10.1
11 warsaw breakage syndrome 10.0 BRCA1 FANCM WRN
12 synchronous bilateral breast carcinoma 10.0 ATM BRCA1
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 bilateral breast cancer 9.9 ATM BRCA1 RAD51
19 colorectal cancer 9.9
20 ovarian cancer 9.9
21 xeroderma pigmentosum, variant type 9.9
22 aging 9.9
23 gastric cancer 9.9
24 allergic hypersensitivity disease 9.9
25 sporadic breast cancer 9.8 ATM BRCA1 RAD51
26 uv-sensitive syndrome 9.7 FEN1 LIG1 RAD51
27 myxosarcoma 9.7 ATM BRCA1
28 alzheimer disease 9.7
29 blood group, i system 9.7
30 burkitt lymphoma 9.7
31 hepatocellular carcinoma 9.7
32 polykaryocytosis inducer 9.7
33 dubowitz syndrome 9.7
34 lecithin:cholesterol acyltransferase deficiency 9.7
35 basal cell carcinoma 1 9.7
36 myelodysplastic syndrome 9.7
37 polyarteritis nodosa, childhood-onset 9.7
38 multiple mitochondrial dysfunctions syndrome 5 9.7
39 acute leukemia 9.7
40 lymphoblastic leukemia 9.7
41 squamous cell carcinoma 9.7
42 basal cell carcinoma 9.7
43 adenocarcinoma 9.7
44 baller-gerold syndrome 9.5 RECQL RECQL4 RECQL5 WRN
45 rapadilino syndrome 9.3 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:

53
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

Human phenotypes related to Bloom Syndrome:

55 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002014
2 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
4 hyperhidrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000975
5 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
6 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
7 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
8 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
11 intellectual disability, mild 55 31 occasional (7.5%) Occasional (29-5%) HP:0001256
12 sinusitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000246
13 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
14 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
15 postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008897
16 protruding ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0000411
17 hypopigmented skin patches 55 31 occasional (7.5%) Occasional (29-5%) HP:0001053
18 narrow face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000275
19 abnormality of chromosome stability 55 31 hallmark (90%) Very frequent (99-80%) HP:0003220
20 hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001161
21 azoospermia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000027
22 reduced number of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0009804
23 erythema 55 31 hallmark (90%) Very frequent (99-80%) HP:0010783
24 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
25 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
26 sacral dimple 55 31 occasional (7.5%) Occasional (29-5%) HP:0000960
27 cutaneous photosensitivity 55 31 frequent (33%) Frequent (79-30%) HP:0000992
28 high pitched voice 55 31 frequent (33%) Frequent (79-30%) HP:0001620
29 iga deficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002720
30 decreased fertility in females 55 31 occasional (7.5%) Occasional (29-5%) HP:0000868
31 igm deficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002850
32 squamous cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002860
33 igg deficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0004315
34 spotty hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0005585
35 facial telangiectasia in butterfly midface distribution 55 31 hallmark (90%) Very frequent (99-80%) HP:0005598
36 neoplasm of the gastrointestinal tract 55 31 occasional (7.5%) Occasional (29-5%) HP:0007378
37 type ii diabetes mellitus 31 HP:0005978
38 neoplasm 55 Very frequent (99-80%)
39 cryptorchidism 31 HP:0000028
40 specific learning disability 31 HP:0001328
41 decreased antibody level in blood 55 Occasional (29-5%)
42 clinodactyly of the 5th finger 31 HP:0004209
43 telangiectasia of the skin 55 Frequent (79-30%)
44 abnormality of the face 55 Frequent (79-30%)
45 cheekbone underdevelopment 55 Frequent (79-30%)
46 abnormality of the nose 55 Very frequent (99-80%)
47 bronchiectasis 31 HP:0002110
48 prominent nose 31 HP:0000448
49 abnormality of the skin 55 Very frequent (99-80%)
50 cafe-au-lait spot 31 HP:0000957

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.1 BRCA1 RAD51 RECQL4
2 Decreased homologous recombination repair frequency GR00151-A-2 10.1 BRCA1 RAD51 RECQL4
3 Decreased homologous recombination repair frequency GR00236-A-1 10.1 BRCA1 RAD51 RECQL4
4 Decreased homologous recombination repair frequency GR00236-A-2 10.1 BRCA1 RAD51 RECQL4
5 Decreased homologous recombination repair frequency GR00236-A-3 10.1 BRCA1 RAD51
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.9 ATM BLM BRCA1 FANCM FEN1 LIG1
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 BLM BRCA1 FANCM FEN1 LIG1 ATM
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 BLM BRCA1 FANCM FEN1 LIG1 RAD51
9 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 RAD51

MGI Mouse Phenotypes related to Bloom Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ATM BLM BRCA1 FANCM FEN1 HELLS
2 embryo MP:0005380 10.03 ATM BLM BRCA1 FEN1 HELLS LIG1
3 growth/size/body region MP:0005378 10.02 ATM BLM BRCA1 FEN1 HELLS LIG1
4 hematopoietic system MP:0005397 10.02 ATM BLM BRCA1 FANCM FEN1 HELLS
5 endocrine/exocrine gland MP:0005379 10.01 LIG1 RECQL4 WRN ATM BRCA1 FANCM
6 adipose tissue MP:0005375 9.95 ATM BRCA1 FEN1 HELLS RECQL4 WRN
7 immune system MP:0005387 9.91 ATM BLM BRCA1 FEN1 HELLS LIG1
8 integument MP:0010771 9.7 BRCA1 HELLS LIG1 RECQL4 WRN ATM
9 mortality/aging MP:0010768 9.7 BLM BRCA1 FANCM FEN1 HELLS LIG1
10 neoplasm MP:0002006 9.28 ATM BLM BRCA1 FANCM FEN1 LIG1

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 28 BLM

Anatomical Context for Bloom Syndrome

MalaCards organs/tissues related to Bloom Syndrome:

38
Skin, Lung, Bone, Colon, Breast, B Cells, Myeloid

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(show top 50) (show all 226)
# Title Authors Year
1
Bloom syndrome does not always present with sun-sensitive facial erythema. ( 29056561 )
2018
2
miR-522-3p promotes tumorigenesis in human colorectal cancer via targeting bloom syndrome protein. ( 29386092 )
2018
3
Interaction of replication protein A with two acidic peptides from human Bloom syndrome protein. ( 29388204 )
2018
4
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. ( 27989672 )
2017
5
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
6
Bloom Syndrome (Congenital Telangiectatic Erythema) ( 28846287 )
2017
7
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein. ( 28792069 )
2017
8
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
9
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. ( 26788541 )
2016
10
Burkitt lymphoma in a child with Bloom syndrome. ( 26774895 )
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
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. ( 26919505 )
2016
13
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. ( 27597923 )
2016
14
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. ( 27185886 )
2016
15
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. ( 27966805 )
2016
16
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
17
Bloom syndrome with extensive pulmonary involvement in a child. ( 25814763 )
2015
18
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. ( 26340805 )
2015
19
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. ( 25673821 )
2015
20
23andme obtains permission to market Bloom syndrome test. ( 26017705 )
2015
21
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. ( 24435566 )
2014
22
Bloom syndrome. ( 24602044 )
2014
23
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? ( 25341612 )
2014
24
Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM. ( 25766002 )
2014
25
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. ( 23708797 )
2013
26
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. ( 23509288 )
2013
27
Bloom syndrome: report of two cases in siblings. ( 22998028 )
2013
28
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. ( 23908384 )
2013
29
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. ( 24257077 )
2013
30
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. ( 23572515 )
2013
31
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. ( 23928670 )
2013
32
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. ( 24377487 )
2013
33
Proton beam therapy for malignancy in Bloom syndrome. ( 23443610 )
2013
34
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. ( 24118499 )
2013
35
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. ( 24932421 )
2013
36
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. ( 22272300 )
2012
37
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. ( 23110454 )
2012
38
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. ( 23129629 )
2012
39
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. ( 22392978 )
2012
40
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. ( 21300576 )
2011
41
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. ( 22183041 )
2011
42
Critical interaction domains between bloom syndrome protein and RAD51. ( 21113733 )
2011
43
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. ( 21778134 )
2011
44
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. ( 21730139 )
2011
45
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. ( 21736299 )
2011
46
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. ( 21712816 )
2011
47
Augmented cell death with Bloom syndrome helicase deficiency. ( 21567087 )
2011
48
Bloom syndrome in two siblings. ( 20537070 )
2010
49
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency. ( 20215422 )
2010
50
Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. ( 20826341 )
2010

Variations for Bloom Syndrome

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

71
# 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 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh37 Chromosome 15, 91303375: 91303375
2 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh37 Chromosome 15, 91304147: 91304147
3 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh37 Chromosome 15, 91304231: 91304231
4 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs367543036 GRCh37 Chromosome 15, 91306388: 91306388
5 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh37 Chromosome 15, 91308549: 91308549
6 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh37 Chromosome 15, 91308646: 91308646
7 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh37 Chromosome 15, 91311410: 91317535
8 BLM NM_000057.3(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 GRCh37 Chromosome 15, 91312463: 91312463
9 BLM NM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs) deletion Pathogenic rs367543024 GRCh37 Chromosome 15, 91312767: 91312768
10 BLM NM_000057.3(BLM): c.2643G> A (p.Trp881Ter) single nucleotide variant Pathogenic rs367543039 GRCh37 Chromosome 15, 91326139: 91326139
11 BLM NM_000057.3(BLM): c.275delA (p.Asn92Metfs) deletion Pathogenic rs367543027 GRCh37 Chromosome 15, 91292773: 91292773
12 BLM NM_000057.3(BLM): c.2855G> T (p.Gly952Val) single nucleotide variant Pathogenic rs367543034 GRCh37 Chromosome 15, 91333910: 91333910
13 BLM NM_000057.3(BLM): c.2887C> T (p.His963Tyr) single nucleotide variant Pathogenic rs367543023 GRCh37 Chromosome 15, 91333942: 91333942
14 BLM NM_000057.3(BLM): c.2923delC (p.Gln975Lysfs) deletion Pathogenic rs367543014 GRCh37 Chromosome 15, 91333978: 91333978
15 BLM NM_000057.3(BLM): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs367543030 GRCh37 Chromosome 15, 91292809: 91292809
16 BLM NM_000057.3(BLM): c.3164G> C (p.Cys1055Ser) single nucleotide variant Pathogenic rs367543029 GRCh37 Chromosome 15, 91337541: 91337541
17 BLM NM_000057.3(BLM): c.3191A> T (p.Asp1064Val) single nucleotide variant Pathogenic rs367543032 GRCh37 Chromosome 15, 91337568: 91337568
18 BLM NM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr) single nucleotide variant Pathogenic rs367543025 GRCh37 Chromosome 15, 91337574: 91337574
19 BLM NM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs) duplication Pathogenic rs367543022 GRCh37 Chromosome 15, 91341432: 91341432
20 BLM NM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs) insertion Pathogenic rs367543037 GRCh37 Chromosome 15, 91341464: 91341465
21 BLM NM_000057.3(BLM): c.3278C> G (p.Ser1093Ter) single nucleotide variant Pathogenic rs367543017 GRCh37 Chromosome 15, 91341487: 91341487
22 BLM NM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs) deletion Pathogenic/Likely pathogenic rs367543033 GRCh37 Chromosome 15, 91346867: 91346868
23 BLM NM_000057.3(BLM): c.3558+1G> A single nucleotide variant Pathogenic rs148969222 GRCh37 Chromosome 15, 91346951: 91346951
24 BLM NM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs) deletion Pathogenic rs367543018 GRCh37 Chromosome 15, 91347425: 91347425
25 BLM NM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs) deletion Pathogenic rs367543020 GRCh37 Chromosome 15, 91347519: 91347519
26 BLM NM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs) duplication Pathogenic rs367543021 GRCh37 Chromosome 15, 91347565: 91347565
27 BLM NM_000057.3(BLM): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic rs367543031 GRCh37 Chromosome 15, 91352462: 91352462
28 BLM NM_000057.3(BLM): c.582delT (p.Phe194Leufs) deletion Pathogenic rs367543026 GRCh37 Chromosome 15, 91293080: 91293080
29 BLM NM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs) deletion Pathogenic/Likely pathogenic rs367543013 GRCh37 Chromosome 15, 91293270: 91293271
30 BLM NM_000057.3(BLM): c.3751+(?_0)_*(177_?)del deletion Pathogenic GRCh37 Chromosome 15, 91347589: 91358686
31 BLM NM_000057.3(BLM): c.2407dupT (p.Trp803Leufs) duplication Pathogenic rs367543012 GRCh37 Chromosome 15, 91312668: 91312668
32 BLM NM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs) duplication Pathogenic/Likely pathogenic rs367543019 GRCh37 Chromosome 15, 91312749: 91312749
33 BLM NM_000057.3(BLM): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200389141 GRCh38 Chromosome 15, 90761015: 90761015
34 BLM NM_000057.3(BLM): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779884 GRCh38 Chromosome 15, 90784953: 90784953
35 BLM NM_000057.3(BLM): c.3415C> T (p.Arg1139Ter) single nucleotide variant Pathogenic rs587783037 GRCh38 Chromosome 15, 90803577: 90803577
36 BLM NM_000057.3(BLM): c.1358T> G (p.Leu453Ter) single nucleotide variant Pathogenic rs730881428 GRCh37 Chromosome 15, 91303961: 91303961
37 BLM NM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs) deletion Likely pathogenic rs786204640 GRCh38 Chromosome 15, 90749849: 90749850
38 BLM NM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs) deletion Likely pathogenic rs786204524 GRCh38 Chromosome 15, 90754842: 90754846
39 BLM NM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs) insertion Pathogenic/Likely pathogenic rs786204471 GRCh37 Chromosome 15, 91310196: 91310197
40 BLM NM_000057.3(BLM): c.3028delG (p.Asp1010Metfs) deletion Pathogenic/Likely pathogenic rs780379121 GRCh37 Chromosome 15, 91337405: 91337405
41 BLM NM_000057.3(BLM): c.2207_2212delATCTGAins7 indel Pathogenic rs113993962 GRCh37 Chromosome 15, 91310153: 91310158
42 BLM NM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) indel Pathogenic rs113993962 GRCh37 Chromosome 15, 91310153: 91310158
43 BLM NM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh37 Chromosome 15, 91293055: 91293057
44 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh37 Chromosome 15, 91337484: 91337484
45 BLM NM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs) insertion Likely pathogenic rs797045115 GRCh38 Chromosome 15, 90790839: 90790840
46 BLM NM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs) deletion Pathogenic rs864622347 GRCh38 Chromosome 15, 90782846: 90782847
47 BLM NM_000057.3(BLM): c.3558+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs148969222 GRCh37 Chromosome 15, 91346951: 91346951
48 BLM NM_000057.3(BLM): c.2206dupT (p.Tyr736Leufs) duplication Pathogenic rs886051551 GRCh37 Chromosome 15, 91310152: 91310152
49 BLM NM_000057.3(BLM): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1057516593 GRCh38 Chromosome 15, 90747394: 90747394
50 BLM NM_000057.3(BLM): c.98+1G> A single nucleotide variant Likely pathogenic rs750293380 GRCh37 Chromosome 15, 91290721: 91290721

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
13.23 ATM BLM BRCA1 FEN1 LIG1 RAD51
2
Show member pathways
12.79 ATM BLM BRCA1 PML WRN
3
Show member pathways
12.76 ATM BLM BRCA1 FANCM FEN1 LIG1
4
Show member pathways
12.66 BRCA1 FEN1 LIG1 WRN
5
Show member pathways
12.48 ATM BRCA1 FEN1 LIG1 RAD51
6
Show member pathways
12.46 ATM BLM BRCA1 WRN
7
Show member pathways
12.42 BLM BRCA1 PML WRN
8
Show member pathways
12.33 ATM BLM BRCA1 RAD51
9
Show member pathways
12.2 ATM BRCA1 PML RAD51
10
Show member pathways
12.06 ATM BLM BRCA1 RAD51 WRN
11
Show member pathways
12.05 ATM BRCA1 PML
12 11.91 ATM BLM BRCA1 PML RAD51
13
Show member pathways
11.84 ATM BLM BRCA1 RAD51 WRN
14 11.75 ATM BLM BRCA1 FEN1 RAD51 RECQL
15 11.68 BLM BRCA1 FANCM RAD51
16
Show member pathways
11.67 ATM BRCA1 RAD51
17 11.54 ATM BLM WRN
18 11.35 ATM BLM BRCA1
19 11.31 ATM BLM BRCA1
20
Show member pathways
11.27 ATM BLM BRCA1 HELLS RAD51
21 11.12 ATM BRCA1
22 11.1 ATM BRCA1 RAD51
23 10.99 BRCA1 FEN1 WRN
24 10.88 ATM BRCA1

GO Terms for Bloom Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.97 ATM BLM BRCA1 FANCM FEN1 HELLS
2 nucleolus GO:0005730 9.85 ATM BLM FEN1 PML RAD51 WRN
3 nuclear chromosome, telomeric region GO:0000784 9.62 ATM FEN1 PML RAD51
4 PML body GO:0016605 9.58 BLM PML RAD51
5 condensed nuclear chromosome GO:0000794 9.48 BRCA1 RAD51
6 condensed chromosome GO:0000793 9.46 BRCA1 RAD51
7 replication fork GO:0005657 9.43 BLM WRN
8 lateral element GO:0000800 9.43 BLM BRCA1 RAD51
9 nucleoplasm GO:0005654 9.36 ATM BLM BRCA1 FANCM FEN1 LIG1
10 chromosome, telomeric region GO:0000781 9.26 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 cellular response to DNA damage stimulus GO:0006974 9.97 ATM BLM BRCA1 FANCM FEN1 LIG1
2 regulation of signal transduction by p53 class mediator GO:1901796 9.91 ATM BLM BRCA1 PML WRN
3 DNA replication GO:0006260 9.86 ATM BLM BRCA1 FEN1 LIG1 RECQL4
4 DNA duplex unwinding GO:0032508 9.83 BLM RECQL RECQL4 RECQL5 WRN
5 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.82 FANCM FEN1 WRN
6 base-excision repair GO:0006284 9.8 FEN1 LIG1 RECQL4 WRN
7 DNA synthesis involved in DNA repair GO:0000731 9.8 ATM BLM BRCA1 RAD51 WRN
8 replication fork processing GO:0031297 9.78 BLM FANCM RAD51 WRN
9 double-strand break repair GO:0006302 9.77 BRCA1 FEN1 WRN
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.77 ATM BRCA1 PML
11 strand displacement GO:0000732 9.77 ATM BLM BRCA1 RAD51 WRN
12 telomere maintenance GO:0000723 9.76 ATM RECQL4 WRN
13 DNA recombination GO:0006310 9.76 BLM BRCA1 LIG1 RAD51 RECQL RECQL4
14 DNA metabolic process GO:0006259 9.74 RAD51 RECQL5 WRN
15 cellular response to gamma radiation GO:0071480 9.73 ATM RAD51 WRN
16 DNA double-strand break processing GO:0000729 9.72 ATM BLM BRCA1
17 DNA strand renaturation GO:0000733 9.71 BLM RECQL RECQL4
18 telomeric D-loop disassembly GO:0061820 9.7 BLM RECQL4 WRN
19 DNA repair GO:0006281 9.7 ATM BLM BRCA1 FANCM FEN1 LIG1
20 negative regulation of G0 to G1 transition GO:0070317 9.66 BRCA1 RAD51
21 cellular response to ionizing radiation GO:0071479 9.66 BLM RAD51
22 reciprocal meiotic recombination GO:0007131 9.65 ATM RAD51
23 cell aging GO:0007569 9.65 PML WRN
24 response to X-ray GO:0010165 9.65 BLM RAD51
25 cellular metabolic process GO:0044237 9.64 BLM WRN
26 t-circle formation GO:0090656 9.63 BLM WRN
27 cellular response to camptothecin GO:0072757 9.63 BLM RAD51 RECQL5
28 V(D)J recombination GO:0033151 9.62 ATM LIG1
29 cellular response to hydroxyurea GO:0072711 9.62 BLM RAD51
30 chromosome organization involved in meiotic cell cycle GO:0070192 9.61 ATM RAD51
31 G-quadruplex DNA unwinding GO:0044806 9.61 BLM WRN
32 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.58 RAD51 RECQL5
33 double-strand break repair via homologous recombination GO:0000724 9.28 ATM BLM BRCA1 FEN1 RAD51 RECQL
34 cell cycle GO:0007049 10.03 ATM BRCA1 HELLS LIG1 RECQL5

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.89 FANCM HELLS RAD51 WRN
2 helicase activity GO:0004386 9.8 BLM FANCM HELLS RECQL RECQL4 RECQL5
3 nuclease activity GO:0004518 9.76 FANCM FEN1 WRN
4 DNA helicase activity GO:0003678 9.71 BLM RECQL RECQL5 WRN
5 ATP-dependent DNA helicase activity GO:0004003 9.7 BLM RECQL WRN
6 four-way junction DNA binding GO:0000400 9.67 BLM RAD51 WRN
7 annealing helicase activity GO:0036310 9.65 BLM RECQL RECQL4
8 bubble DNA binding GO:0000405 9.63 BLM RECQL4 WRN
9 telomeric D-loop binding GO:0061821 9.61 BLM RECQL4 WRN
10 G-quadruplex DNA binding GO:0051880 9.57 BLM WRN
11 Y-form DNA binding GO:0000403 9.56 BLM WRN
12 telomeric G-quadruplex DNA binding GO:0061849 9.55 BLM WRN
13 ATP-dependent helicase activity GO:0008026 9.55 BLM RECQL RECQL4 RECQL5 WRN
14 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.54 BLM WRN
15 forked DNA-dependent helicase activity GO:0061749 9.51 BLM WRN
16 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
17 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
18 hydrolase activity GO:0016787 10.12 BLM FANCM FEN1 HELLS RECQL RECQL5
19 DNA binding GO:0003677 10.11 ATM BLM BRCA1 FANCM FEN1 LIG1
20 ATP binding GO:0005524 10.02 ATM BLM FANCM HELLS LIG1 RAD51

Sources for Bloom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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