BLM
MCID: BLM001
MIFTS: 63

Bloom Syndrome (BLM) malady

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

Aliases & Classifications for Bloom Syndrome

Aliases & Descriptions for Bloom Syndrome:

Name: Bloom Syndrome 54 12 71 50 24 25 56 66 13 52 42 14 69
Bloom-Torre-Machacek Syndrome 12 50 25
Congenital Telangiectatic Erythema 50 25
Bloom's Syndrome 25 29
Blm 50 66
Bls 50 66
Bs 50 66
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
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;

HPO:

32
bloom syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 210900
Disease Ontology 12 DOID:2717
MeSH 42 D001816
NCIt 47 C2903
SNOMED-CT 64 4434006
Orphanet 56 ORPHA125
MESH via Orphanet 43 D001816
UMLS via Orphanet 70 C0005859
ICD10 via Orphanet 34 Q82.2
MedGen 40 C0005859
UMLS 69 C0005859

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 osteochondrodysplasia and lymphoma, 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 Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis. The drugs Benzocaine and Calfactant have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cellular

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 : 54 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency;... (210900) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 by clinical synopsis from OMIM:

210900

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 diarrhea 56 32 Very frequent (99-80%) HP:0002014
2 malar flattening 56 32 Very frequent (99-80%) HP:0000272
3 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
4 hyperhidrosis 56 32 Occasional (29-5%) HP:0000975
5 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
6 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
7 short nose 56 32 Frequent (79-30%) HP:0003196
8 microcephaly 56 32 Occasional (29-5%) HP:0000252
9 short stature 56 32 Very frequent (99-80%) HP:0004322
10 ichthyosis 56 32 Occasional (29-5%) HP:0008064
11 intellectual disability, mild 56 32 Occasional (29-5%) HP:0001256
12 sinusitis 56 32 Very frequent (99-80%) HP:0000246
13 dolichocephaly 56 32 Very frequent (99-80%) HP:0000268
14 postnatal growth retardation 56 32 Very frequent (99-80%) HP:0008897
15 protruding ear 56 32 Occasional (29-5%) HP:0000411
16 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
17 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
18 narrow face 56 32 Very frequent (99-80%) HP:0000275
19 abnormality of chromosome stability 56 32 Very frequent (99-80%) HP:0003220
20 hand polydactyly 56 32 Occasional (29-5%) HP:0001161
21 azoospermia 56 32 Occasional (29-5%) HP:0000027
22 reduced number of teeth 56 32 Occasional (29-5%) HP:0009804
23 erythema 56 32 Very frequent (99-80%) HP:0010783
24 acute leukemia 56 32 Occasional (29-5%) HP:0002488
25 lymphoma 56 32 Occasional (29-5%) HP:0002665
26 sacral dimple 56 32 Occasional (29-5%) HP:0000960
27 cutaneous photosensitivity 56 32 Frequent (79-30%) HP:0000992
28 high pitched voice 56 32 Frequent (79-30%) HP:0001620
29 iga deficiency 56 32 Occasional (29-5%) HP:0002720
30 decreased fertility in females 56 32 Occasional (29-5%) HP:0000868
31 igm deficiency 56 32 Occasional (29-5%) HP:0002850
32 squamous cell carcinoma 56 32 Occasional (29-5%) HP:0002860
33 igg deficiency 56 32 Occasional (29-5%) HP:0004315
34 spotty hyperpigmentation 56 32 Very frequent (99-80%) HP:0005585
35 facial telangiectasia in butterfly midface distribution 56 32 Very frequent (99-80%) HP:0005598
36 neoplasm of the gastrointestinal tract 56 32 Occasional (29-5%) HP:0007378
37 type ii diabetes mellitus 32 HP:0005978
38 neoplasm 56 Very frequent (99-80%)
39 cryptorchidism 32 HP:0000028
40 decreased antibody level in blood 56 Occasional (29-5%)
41 clinodactyly of the 5th finger 32 HP:0004209
42 teleangiectasia of the skin 56 Frequent (79-30%)
43 abnormality of the face 56 Frequent (79-30%)
44 specific learning disability 32 HP:0001328
45 cheekbone underdevelopment 56 Frequent (79-30%)
46 abnormality of the nose 56 Very frequent (99-80%)
47 bronchiectasis 32 HP:0002110
48 prominent nose 32 HP:0000448
49 abnormality of the skin 56 Very frequent (99-80%)
50 syndactyly 32 HP:0001159

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 LIG1 LIG3 ATM BLM FANCM FEN1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 LIG3 ATM BLM FANCM FEN1 LIG1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 LIG3 RAD51 RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Bloom Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 LIG1 LIG3 PML RAD51 RECQL RECQL4
2 embryo MP:0005380 10.03 ATM BLM FEN1 HELLS LIG1 LIG3
3 growth/size/body region MP:0005378 10.02 ATM BLM FEN1 HELLS LIG1 LIG3
4 hematopoietic system MP:0005397 9.97 ATM BLM FANCM FEN1 HELLS LIG1
5 endocrine/exocrine gland MP:0005379 9.95 HELLS LIG1 RECQL4 WRN ATM FANCM
6 adipose tissue MP:0005375 9.88 ATM FEN1 HELLS RECQL4 WRN
7 immune system MP:0005387 9.86 ATM BLM FEN1 HELLS LIG1 PML
8 mortality/aging MP:0010768 9.7 HELLS LIG1 LIG3 PML RAD51 RECQL4
9 integument MP:0010771 9.63 ATM BLM HELLS LIG1 RECQL4 WRN
10 neoplasm MP:0002006 9.23 ATM BLM FANCM FEN1 LIG1 PML

Drugs & Therapeutics for Bloom Syndrome

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
2
Calfactant Approved Phase 3 183325-78-2
3 tannic acid Approved, Nutraceutical Phase 3
4 Pulmonary Surfactants Phase 3
5 Respiratory System Agents Phase 3
6 Hormone Antagonists Phase 2
7 Hormones Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Comparison of Aerosol Delivery of Infasurf to Usual Care in Spontaneously Breathing RDS Patients Recruiting NCT03058666 Phase 3
2 The Use of the Hormone Kisspeptin in 'in Vitro Fertilisation' (IVF) Treatment Recruiting NCT01667406 Phase 2
3 Biological Significance of the Bloom's Syndrome Protein Completed NCT00021437
4 Vanderbilt ICU Recovery Program Pilot Trial Recruiting NCT03124342

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, Eye, B Cells, Colon, Breast

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(show top 50) (show all 220)
id Title Authors Year
1
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. ( 27989672 )
2017
2
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks. ( 28058110 )
2016
3
Burkitt lymphoma in a child with Bloom syndrome. ( 26774895 )
2016
4
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. ( 27185886 )
2016
5
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. ( 26788541 )
2016
6
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. ( 27966805 )
2016
7
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. ( 26919505 )
2016
8
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. ( 27597923 )
2016
9
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
10
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. ( 25673821 )
2015
11
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. ( 26340805 )
2015
12
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
13
Bloom syndrome with extensive pulmonary involvement in a child. ( 25814763 )
2015
14
23andme obtains permission to market Bloom syndrome test. ( 26017705 )
2015
15
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. ( 24435566 )
2014
16
Bloom syndrome. ( 24602044 )
2014
17
Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM. ( 25766002 )
2014
18
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? ( 25341612 )
2014
19
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. ( 23908384 )
2013
20
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. ( 24118499 )
2013
21
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. ( 24257077 )
2013
22
Proton beam therapy for malignancy in Bloom syndrome. ( 23443610 )
2013
23
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. ( 24932421 )
2013
24
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. ( 24377487 )
2013
25
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. ( 23509288 )
2013
26
Bloom syndrome: report of two cases in siblings. ( 22998028 )
2013
27
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. ( 23572515 )
2013
28
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. ( 23708797 )
2013
29
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. ( 23928670 )
2013
30
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. ( 22392978 )
2012
31
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. ( 23129629 )
2012
32
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. ( 22272300 )
2012
33
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. ( 23110454 )
2012
34
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. ( 21736299 )
2011
35
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. ( 21712816 )
2011
36
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. ( 21778134 )
2011
37
Augmented cell death with Bloom syndrome helicase deficiency. ( 21567087 )
2011
38
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. ( 22183041 )
2011
39
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. ( 21730139 )
2011
40
Critical interaction domains between bloom syndrome protein and RAD51. ( 21113733 )
2011
41
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. ( 21300576 )
2011
42
Solution structure of the HRDC domain of human Bloom syndrome protein BLM. ( 20739603 )
2010
43
Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication. ( 20711169 )
2010
44
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency. ( 20215422 )
2010
45
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential. ( 19966276 )
2010
46
Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. ( 20826341 )
2010
47
Bloom syndrome in two siblings. ( 20537070 )
2010
48
Structure and function of the regulatory HRDC domain from human Bloom syndrome protein. ( 20639533 )
2010
49
Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. ( 19820394 )
2009
50
Bloom syndrome with lung involvement. ( 20442845 )
2009

Variations for Bloom Syndrome

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

66
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 GRCh38 Chromosome 15, 90766966: 90766967
43 BLM NM_000057.3(BLM): c.3028delG (p.Asp1010Metfs) deletion Likely pathogenic rs780379121 GRCh38 Chromosome 15, 90794175: 90794175
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 GRCh38 Chromosome 15, 90803721: 90803721
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 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 9.83 BLM FEN1 PML RAD51 WRN
3 chromosome GO:0005694 9.76 RECQL RECQL4 RECQL5 WRN
4 nuclear chromosome, telomeric region GO:0000784 9.56 ATM FEN1 PML RAD51
5 PML body GO:0016605 9.5 BLM PML RAD51
6 replication fork GO:0005657 9.4 BLM WRN
7 lateral element GO:0000800 9.37 BLM RAD51
8 nucleoplasm GO:0005654 9.36 ATM BLM FANCM FEN1 LIG1 LIG3
9 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 9.88 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 9.81 FEN1 LIG1 RECQL4 WRN
7 DNA synthesis involved in DNA repair GO:0000731 9.8 ATM BLM RAD51 WRN
8 DNA duplex unwinding GO:0032508 9.8 BLM RECQL RECQL4 RECQL5 WRN
9 replication fork processing GO:0031297 9.78 BLM FANCM RAD51 WRN
10 double-strand break repair GO:0006302 9.77 FEN1 LIG3 WRN
11 DNA metabolic process GO:0006259 9.77 FANCM LIG1 RAD51 RECQL5 WRN
12 DNA recombination GO:0006310 9.76 BLM LIG1 LIG3 RAD51 RECQL RECQL4
13 cellular response to gamma radiation GO:0071480 9.73 ATM RAD51 WRN
14 strand displacement GO:0000732 9.73 ATM BLM RAD51 WRN
15 V(D)J recombination GO:0033151 9.72 ATM LIG1 LIG3
16 DNA strand renaturation GO:0000733 9.71 BLM RECQL RECQL4
17 telomeric D-loop disassembly GO:0061820 9.7 BLM RECQL4 WRN
18 DNA repair GO:0006281 9.7 ATM BLM FANCM FEN1 LIG1 LIG3
19 DNA biosynthetic process GO:0071897 9.67 LIG1 LIG3
20 cellular response to ionizing radiation GO:0071479 9.67 BLM RAD51
21 telomere maintenance via recombination GO:0000722 9.67 FEN1 RAD51
22 cell aging GO:0007569 9.66 PML WRN
23 reciprocal meiotic recombination GO:0007131 9.66 ATM RAD51
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 cellular response to camptothecin GO:0072757 9.63 BLM RAD51 RECQL5
30 DNA ligation GO:0006266 9.62 LIG1 LIG3
31 DNA ligation involved in DNA repair GO:0051103 9.61 LIG1 LIG3
32 cellular response to hydroxyurea GO:0072711 9.61 BLM RAD51
33 chromosome organization involved in meiotic cell cycle GO:0070192 9.6 ATM RAD51
34 G-quadruplex DNA unwinding GO:0044806 9.58 BLM WRN
35 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.57 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 9.91 FANCM HELLS RAD51 WRN
2 nuclease activity GO:0004518 9.77 FANCM FEN1 WRN
3 ATP-dependent helicase activity GO:0008026 9.72 BLM RECQL RECQL4 RECQL5 WRN
4 ATP-dependent DNA helicase activity GO:0004003 9.71 BLM RECQL WRN
5 DNA helicase activity GO:0003678 9.71 BLM RECQL RECQL5 WRN
6 helicase activity GO:0004386 9.7 BLM FANCM HELLS RECQL RECQL4 RECQL5
7 four-way junction DNA binding GO:0000400 9.69 BLM RAD51 WRN
8 oxidized purine DNA binding GO:0032357 9.67 BLM RECQL4 WRN
9 annealing helicase activity GO:0036310 9.65 BLM RECQL RECQL4
10 bubble DNA binding GO:0000405 9.63 BLM RECQL4 WRN
11 telomeric D-loop binding GO:0061821 9.61 BLM RECQL4 WRN
12 G-quadruplex DNA binding GO:0051880 9.58 BLM WRN
13 DNA ligase (ATP) activity GO:0003910 9.58 LIG1 LIG3
14 Y-form DNA binding GO:0000403 9.57 BLM WRN
15 DNA ligase activity GO:0003909 9.56 LIG1 LIG3
16 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.55 BLM WRN
17 forked DNA-dependent helicase activity GO:0061749 9.52 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 hydrolase activity GO:0016787 10.14 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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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