MCID: BLM001
MIFTS: 61

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 54 12 72 50 24 25 56 71 29 13 52 42 14 69
Bloom-Torre-Machacek Syndrome 12 50 25
Congenital Telangiectatic Erythema 50 25
Blm 50 71
Bls 50 71
Bs 50 71
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 50
Congenital Telangiectatic Erythema Syndrome 12
Bloom’s Syndrome 23
Bloom's Syndrome 25
Bsyn 56

Characteristics:

Orphanet epidemiological data:

56
bloom syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult;

OMIM:

54
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 : 50 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 hypocalcemia, autosomal dominant, and has symptoms including short stature, recurrent respiratory infections and diarrhea. An important gene associated with Bloom Syndrome is BLM (Bloom Syndrome RecQ Like Helicase), and among its related pathways/superpathways are Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis. Affiliated tissues include skin, lung and bone, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cellular

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 : 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 : 54
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)

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

Wikipedia : 72 Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is... more...

GeneReviews: NBK1398

Related Diseases for Bloom Syndrome

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:

54

Skin Nails & Hair- Skin:
hypertrichosis
photosensitivity
cafe-au-lait spots
facial telangiectasia in butterfly midface distribution (exacerbated by sun)
spotty hypopigmentation
more
Genitourinary- Internal Genitalia Male:
cryptorchidism
azoospermia

Growth- Other:
prenatal onset growth retardation
growth failure

Head And Neck- Ears:
prominent ears

Respiratory- Airways:
bronchiectasis

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

Respiratory- Lung:
chronic lung disease

Head And Neck- Teeth:
absent upper lateral incisors

Genitourinary- Internal Genitalia Female:
reduced fertility in females

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

Head And Neck- Head:
microcephaly
dolichocephaly

Skeletal- Hands:
fifth finger clinodactyly
syndactyly
polydactyly

Head And Neck- Nose:
prominent nose

Head And Neck- Face:
malar hypoplasia
narrow

Neoplasia:
leukemia
lymphoma
squamous cell carcinoma
adenocarcinoma
hypersensitivity to chemotherapy

Endocrine Features:
noninsulin-dependent diabetes mellitus

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

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

Voice:
high-pitched


Clinical features from OMIM:

210900

Human phenotypes related to Bloom Syndrome:

56 32 (show top 50) (show all 57)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 recurrent respiratory infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002205
3 diarrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0002014
4 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
5 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
6 short nose 56 32 frequent (33%) Frequent (79-30%) HP:0003196
7 azoospermia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000027
8 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
9 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
10 ichthyosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008064
11 narrow face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000275
12 postnatal growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0008897
13 dolichocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000268
14 lymphoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002665
15 hyperhidrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000975
16 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
17 squamous cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002860
18 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
19 high pitched voice 56 32 frequent (33%) Frequent (79-30%) HP:0001620
20 hypopigmented skin patches 56 32 occasional (7.5%) Occasional (29-5%) HP:0001053
21 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783
22 sacral dimple 56 32 occasional (7.5%) Occasional (29-5%) HP:0000960
23 iga deficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002720
24 sinusitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000246
25 decreased fertility in females 56 32 occasional (7.5%) Occasional (29-5%) HP:0000868
26 spotty hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0005585
27 igg deficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0004315
28 cutaneous photosensitivity 56 32 frequent (33%) Frequent (79-30%) HP:0000992
29 protruding ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000411
30 abnormality of chromosome stability 56 32 hallmark (90%) Very frequent (99-80%) HP:0003220
31 hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001161
32 reduced number of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0009804
33 acute leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002488
34 igm deficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002850
35 facial telangiectasia in butterfly midface distribution 56 32 hallmark (90%) Very frequent (99-80%) HP:0005598
36 neoplasm of the gastrointestinal tract 56 32 occasional (7.5%) Occasional (29-5%) HP:0007378
37 hypertrichosis 32 HP:0000998
38 cryptorchidism 32 HP:0000028
39 prominent nose 32 HP:0000448
40 syndactyly 32 HP:0001159
41 bronchiectasis 32 HP:0002110
42 leukemia 32 HP:0001909
43 chronic lung disease 32 HP:0006528
44 type ii diabetes mellitus 32 HP:0005978
45 spotty hypopigmentation 32 HP:0005590
46 neoplasm 56 Very frequent (99-80%)
47 decreased antibody level in blood 56 Occasional (29-5%)
48 clinodactyly of the 5th finger 32 HP:0004209
49 teleangiectasia of the skin 56 Frequent (79-30%)
50 abnormality of the face 56 Frequent (79-30%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 FEN1 LIG1 LIG3 ATM BLM FANCM
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 FEN1 LIG1 LIG3 RAD51 ATM BLM
3 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 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 9.91 FEN1 HELLS LIG1 PML RECQL4 WRN
6 adipose tissue MP:0005375 9.85 ATM FEN1 HELLS RECQL4 WRN
7 immune system MP:0005387 9.76 BLM FEN1 HELLS LIG1 PML RECQL4
8 mortality/aging MP:0010768 9.7 ATM BLM FANCM FEN1 HELLS LIG1
9 neoplasm MP:0002006 9.23 BLM FANCM FEN1 LIG1 PML RECQL4

Drugs & Therapeutics for Bloom Syndrome

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Bloom Syndrome 29 24 BLM

Anatomical Context for Bloom Syndrome

MalaCards organs/tissues related to Bloom Syndrome:

39
Skin, Lung, Bone, Colon, Breast, B Cells, Myeloid

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(show top 50) (show all 223)
id Title Authors Year
1
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
2
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein. ( 28792069 )
2017
3
Bloom Syndrome (Congenital Telangiectatic Erythema) ( 28846287 )
2017
4
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. ( 27989672 )
2017
5
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. ( 26919505 )
2016
6
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks. ( 28058110 )
2016
7
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
8
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. ( 26788541 )
2016
9
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. ( 27966805 )
2016
10
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. ( 27185886 )
2016
11
Burkitt lymphoma in a child with Bloom syndrome. ( 26774895 )
2016
12
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. ( 27597923 )
2016
13
Bloom syndrome with extensive pulmonary involvement in a child. ( 25814763 )
2015
14
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. ( 26340805 )
2015
15
23andme obtains permission to market Bloom syndrome test. ( 26017705 )
2015
16
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. ( 25673821 )
2015
17
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
18
Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM. ( 25766002 )
2014
19
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? ( 25341612 )
2014
20
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. ( 24435566 )
2014
21
Bloom syndrome. ( 24602044 )
2014
22
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. ( 24118499 )
2013
23
Bloom syndrome: report of two cases in siblings. ( 22998028 )
2013
24
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. ( 24257077 )
2013
25
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. ( 24932421 )
2013
26
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. ( 23509288 )
2013
27
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. ( 24377487 )
2013
28
Proton beam therapy for malignancy in Bloom syndrome. ( 23443610 )
2013
29
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. ( 23908384 )
2013
30
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. ( 23928670 )
2013
31
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. ( 23708797 )
2013
32
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. ( 23572515 )
2013
33
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. ( 23129629 )
2012
34
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. ( 22272300 )
2012
35
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. ( 23110454 )
2012
36
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. ( 22392978 )
2012
37
Augmented cell death with Bloom syndrome helicase deficiency. ( 21567087 )
2011
38
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. ( 21300576 )
2011
39
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. ( 21778134 )
2011
40
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. ( 21730139 )
2011
41
Critical interaction domains between bloom syndrome protein and RAD51. ( 21113733 )
2011
42
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. ( 21712816 )
2011
43
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. ( 22183041 )
2011
44
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. ( 21736299 )
2011
45
Bloom syndrome in two siblings. ( 20537070 )
2010
46
Solution structure of the HRDC domain of human Bloom syndrome protein BLM. ( 20739603 )
2010
47
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential. ( 19966276 )
2010
48
Structure and function of the regulatory HRDC domain from human Bloom syndrome protein. ( 20639533 )
2010
49
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency. ( 20215422 )
2010
50
Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication. ( 20711169 )
2010

Variations for Bloom Syndrome

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

71
id 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 79)
id 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.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh37 Chromosome 15, 91293055: 91293057
3 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh37 Chromosome 15, 91337484: 91337484
4 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh37 Chromosome 15, 91303375: 91303375
5 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh37 Chromosome 15, 91304147: 91304147
6 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh37 Chromosome 15, 91304231: 91304231
7 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs367543036 GRCh37 Chromosome 15, 91306388: 91306388
8 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh37 Chromosome 15, 91308549: 91308549
9 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh37 Chromosome 15, 91308646: 91308646
10 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh37 Chromosome 15, 91311410: 91317535
11 BLM NM_000057.3(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 GRCh37 Chromosome 15, 91312463: 91312463
12 BLM NM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs) deletion Pathogenic rs367543024 GRCh37 Chromosome 15, 91312767: 91312768
13 BLM NM_000057.3(BLM): c.2643G> A (p.Trp881Ter) single nucleotide variant Pathogenic rs367543039 GRCh37 Chromosome 15, 91326139: 91326139
14 BLM NM_000057.3(BLM): c.275delA (p.Asn92Metfs) deletion Pathogenic rs367543027 GRCh37 Chromosome 15, 91292773: 91292773
15 BLM NM_000057.3(BLM): c.2855G> T (p.Gly952Val) single nucleotide variant Pathogenic rs367543034 GRCh37 Chromosome 15, 91333910: 91333910
16 BLM NM_000057.3(BLM): c.2887C> T (p.His963Tyr) single nucleotide variant Pathogenic rs367543023 GRCh37 Chromosome 15, 91333942: 91333942
17 BLM NM_000057.3(BLM): c.2923delC (p.Gln975Lysfs) deletion Pathogenic rs367543014 GRCh37 Chromosome 15, 91333978: 91333978
18 BLM NM_000057.3(BLM): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs367543030 GRCh37 Chromosome 15, 91292809: 91292809
19 BLM NM_000057.3(BLM): c.3164G> C (p.Cys1055Ser) single nucleotide variant Pathogenic rs367543029 GRCh37 Chromosome 15, 91337541: 91337541
20 BLM NM_000057.3(BLM): c.3191A> T (p.Asp1064Val) single nucleotide variant Pathogenic rs367543032 GRCh37 Chromosome 15, 91337568: 91337568
21 BLM NM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr) single nucleotide variant Pathogenic rs367543025 GRCh37 Chromosome 15, 91337574: 91337574
22 BLM NM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs) duplication Pathogenic rs367543022 GRCh37 Chromosome 15, 91341432: 91341432
23 BLM NM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs) insertion Pathogenic rs367543037 GRCh37 Chromosome 15, 91341464: 91341465
24 BLM NM_000057.3(BLM): c.3278C> G (p.Ser1093Ter) single nucleotide variant Pathogenic rs367543017 GRCh37 Chromosome 15, 91341487: 91341487
25 BLM NM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs) deletion Pathogenic/Likely pathogenic rs367543033 GRCh37 Chromosome 15, 91346867: 91346868
26 BLM NM_000057.3(BLM): c.3558+1G> A single nucleotide variant Pathogenic rs148969222 GRCh37 Chromosome 15, 91346951: 91346951
27 BLM NM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs) deletion Pathogenic rs367543018 GRCh37 Chromosome 15, 91347425: 91347425
28 BLM NM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs) deletion Pathogenic rs367543020 GRCh37 Chromosome 15, 91347519: 91347519
29 BLM NM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs) duplication Pathogenic rs367543021 GRCh37 Chromosome 15, 91347565: 91347565
30 BLM NM_000057.3(BLM): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic rs367543031 GRCh37 Chromosome 15, 91352462: 91352462
31 BLM NM_000057.3(BLM): c.582delT (p.Phe194Leufs) deletion Pathogenic rs367543026 GRCh37 Chromosome 15, 91293080: 91293080
32 BLM NM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs) deletion Pathogenic/Likely pathogenic rs367543013 GRCh37 Chromosome 15, 91293270: 91293271
33 BLM NM_000057.3(BLM): c.3751+(?_0)_*(177_?)del deletion Pathogenic GRCh37 Chromosome 15, 91347589: 91358686
34 BLM NM_000057.3(BLM): c.2407dupT (p.Trp803Leufs) duplication Pathogenic rs367543012 GRCh37 Chromosome 15, 91312668: 91312668
35 BLM NM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs) duplication Pathogenic/Likely pathogenic rs367543019 GRCh37 Chromosome 15, 91312749: 91312749
36 BLM NM_000057.3(BLM): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic rs200389141 GRCh38 Chromosome 15, 90761015: 90761015
37 BLM NM_000057.3(BLM): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779884 GRCh38 Chromosome 15, 90784953: 90784953
38 BLM NM_000057.3(BLM): c.3415C> T (p.Arg1139Ter) single nucleotide variant Pathogenic rs587783037 GRCh38 Chromosome 15, 90803577: 90803577
39 BLM NM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs) deletion Likely pathogenic rs786204640 GRCh38 Chromosome 15, 90749849: 90749850
40 BLM NM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs) deletion Likely pathogenic rs786204524 GRCh38 Chromosome 15, 90754842: 90754846
41 BLM NM_000057.3(BLM): c.2015A> G (p.Gln672Arg) single nucleotide variant Likely pathogenic rs747281324 GRCh38 Chromosome 15, 90763098: 90763098
42 BLM NM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs) insertion Pathogenic/Likely pathogenic rs786204471 GRCh37 Chromosome 15, 91310196: 91310197
43 BLM NM_000057.3(BLM): c.3028delG (p.Asp1010Metfs) deletion Likely pathogenic rs780379121 GRCh37 Chromosome 15, 91337405: 91337405
44 BLM NM_000057.3(BLM): c.2207_2212delATCTGAins7 indel Pathogenic rs113993962 GRCh37 Chromosome 15, 91310153: 91310158
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 GRCh38 Chromosome 15, 90747491: 90747491

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 GeneCards Suite gene sharing:

(show all 13)
id 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
12.26 ATM FEN1 LIG1 LIG3 RAD51
5
Show member pathways
12 ATM BLM RAD51 WRN
6 11.86 ATM BLM PML RAD51
7
Show member pathways
11.8 ATM BLM RAD51 WRN
8 11.69 ATM BLM FEN1 RAD51 RECQL RECQL4
9 11.61 BLM FANCM RAD51
10 11.43 ATM BLM WRN
11
Show member pathways
11.38 ATM BLM HELLS RAD51
12 10.97 ATM RAD51
13 10.87 FEN1 WRN

GO Terms for Bloom Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.97 ATM BLM FANCM FEN1 HELLS LIG1
2 nucleolus GO:0005730 9.72 BLM FEN1 PML RAD51 WRN
3 nuclear chromosome, telomeric region GO:0000784 9.56 ATM FEN1 PML RAD51
4 PML body GO:0016605 9.54 BLM PML RAD51
5 replication fork GO:0005657 9.43 BLM WRN
6 lateral element GO:0000800 9.4 BLM RAD51
7 nucleoplasm GO:0005654 9.36 ATM BLM FANCM FEN1 LIG1 LIG3
8 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 37)
id 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 9.95 HELLS LIG1 LIG3 RECQL5
3 regulation of signal transduction by p53 class mediator GO:1901796 9.87 ATM BLM PML WRN
4 DNA replication GO:0006260 9.86 ATM BLM FEN1 LIG1 LIG3 RECQL4
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 9.78 ATM BLM RAD51 WRN
8 DNA duplex unwinding GO:0032508 9.77 BLM RECQL RECQL4 RECQL5 WRN
9 double-strand break repair GO:0006302 9.76 FEN1 LIG3 WRN
10 replication fork processing GO:0031297 9.76 BLM FANCM RAD51 WRN
11 DNA recombination GO:0006310 9.76 BLM LIG1 LIG3 RAD51 RECQL RECQL4
12 DNA metabolic process GO:0006259 9.75 RAD51 RECQL5 WRN
13 cellular response to gamma radiation GO:0071480 9.72 ATM RAD51 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 DNA strand renaturation GO:0000733 9.7 BLM RECQL RECQL4
17 DNA repair GO:0006281 9.7 ATM BLM FANCM FEN1 LIG1 LIG3
18 telomeric D-loop disassembly GO:0061820 9.69 BLM RECQL4 WRN
19 telomere maintenance GO:0000723 9.67 RECQL4 WRN
20 DNA biosynthetic process GO:0071897 9.67 LIG1 LIG3
21 cellular response to ionizing radiation GO:0071479 9.67 BLM RAD51
22 reciprocal meiotic recombination GO:0007131 9.66 ATM RAD51
23 cell aging GO:0007569 9.66 PML WRN
24 nucleotide-excision repair, DNA gap filling GO:0006297 9.65 LIG1 LIG3
25 response to X-ray GO:0010165 9.65 BLM RAD51
26 DNA double-strand break processing GO:0000729 9.64 ATM BLM
27 cellular metabolic process GO:0044237 9.63 BLM WRN
28 t-circle formation GO:0090656 9.63 BLM WRN
29 DNA ligation GO:0006266 9.62 LIG1 LIG3
30 DNA ligation involved in DNA repair GO:0051103 9.61 LIG1 LIG3
31 cellular response to hydroxyurea GO:0072711 9.61 BLM RAD51
32 cellular response to camptothecin GO:0072757 9.61 BLM RAD51 RECQL5
33 G-quadruplex DNA unwinding GO:0044806 9.6 BLM WRN
34 chromosome organization involved in meiotic cell cycle GO:0070192 9.59 ATM RAD51
35 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.56 RAD51 RECQL5
36 double-strand break repair via homologous recombination GO:0000724 9.28 ATM BLM FEN1 LIG3 RAD51 RECQL
37 cell cycle GO:0007049 10.02 ATM HELLS LIG1 LIG3 RECQL5

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.9 FANCM HELLS RAD51 WRN
2 helicase activity GO:0004386 9.8 BLM FANCM HELLS RECQL RECQL4 RECQL5
3 nuclease activity GO:0004518 9.77 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 9.58 BLM WRN
11 Y-form DNA binding GO:0000403 9.57 BLM WRN
12 DNA ligase (ATP) activity GO:0003910 9.56 LIG1 LIG3
13 DNA ligase activity GO:0003909 9.55 LIG1 LIG3
14 ATP-dependent helicase activity GO:0008026 9.55 BLM RECQL RECQL4 RECQL5 WRN
15 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.54 BLM WRN
16 forked DNA-dependent helicase activity GO:0061749 9.51 BLM WRN
17 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
18 DNA-dependent ATPase activity GO:0008094 9.3 RAD51
19 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
20 hydrolase activity GO:0016787 10.13 BLM FANCM FEN1 HELLS RECQL RECQL5
21 DNA binding GO:0003677 10.11 ATM BLM FANCM FEN1 LIG1 LIG3
22 ATP binding GO:0005524 10.06 ATM BLM FANCM HELLS LIG1 LIG3

Sources for Bloom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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