MCID: BLM001
MIFTS: 62

Bloom Syndrome malady

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

Aliases & Classifications for Bloom Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Bloom Syndrome:

Name: Bloom Syndrome 52 11 71 48 24 25 54 70 12 50 39 13 68
Bloom-Torre-Machacek Syndrome 11 48 25
Congenital Telangiectatic Erythema 48 25
Bloom's Syndrome 25 27
Blm 48 70
Bls 48 70
 
Bs 48 70
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 48
Congenital Telangiectatic Erythema Syndrome 11
Bloom’s Syndrome 23
Bsyn 54

Characteristics:

Orphanet epidemiological data:

54
bloom syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult

HPO:

64
bloom syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 210900
Disease Ontology11 DOID:2717
MeSH39 D001816
NCIt45 C2903
Orphanet54 ORPHA125
SNOMED-CT62 4434006
MESH via Orphanet40 D001816
UMLS via Orphanet69 C0005859
ICD10 via Orphanet31 Q82.2
MedGen37 C0005859

Summaries for Bloom Syndrome

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NIH Rare Diseases:48 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 blau syndrome and stuttering, and has symptoms including sinusitis, dolichocephaly and narrow face. An important gene associated with Bloom Syndrome is BLM (Bloom Syndrome RecQ Like Helicase), and among its related pathways are DNA damage_ATM/ATR regulation of G1/S checkpoint and BARD1 signaling events. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Synthetic lethal with MLN4924 (a NAE inhibitor).

Disease Ontology:11 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:52 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency;... (210900) more...

UniProtKB/Swiss-Prot:70 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 for NBK1398

Related Diseases for Bloom Syndrome

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



Diseases related to bloom syndrome

Symptoms & Phenotypes for Bloom Syndrome

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Symptoms by clinical synopsis from OMIM:

210900

Clinical features from OMIM:

210900

Human phenotypes related to Bloom Syndrome:

 64 54 (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinusitis64 54 hallmark (90%) Very frequent (99-80%) HP:0000246
2 dolichocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000268
3 narrow face64 54 hallmark (90%) Very frequent (99-80%) HP:0000275
4 intrauterine growth retardation64 54 hallmark (90%) Very frequent (99-80%) HP:0001511
5 diarrhea64 54 hallmark (90%) Very frequent (99-80%) HP:0002014
6 recurrent respiratory infections64 54 hallmark (90%) Very frequent (99-80%) HP:0002205
7 delayed skeletal maturation64 54 hallmark (90%) Very frequent (99-80%) HP:0002750
8 abnormality of chromosome stability64 54 hallmark (90%) Very frequent (99-80%) HP:0003220
9 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
10 irregular hyperpigmentation64 hallmark (90%) HP:0007400
11 hypoplasia of the zygomatic bone64 hallmark (90%) HP:0010669
12 micrognathia64 typical (50%) HP:0000347
13 cutaneous photosensitivity64 54 typical (50%) Frequent (79-30%) HP:0000992
14 short nose64 54 typical (50%) Frequent (79-30%) HP:0003196
15 telangiectasia of the skin64 typical (50%) HP:0100585
16 decreased fertility64 occasional (7.5%) HP:0000144
17 microcephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000252
18 abnormality of the pinna64 occasional (7.5%) HP:0000377
19 sacral dimple64 54 occasional (7.5%) Occasional (29-5%) HP:0000960
20 hyperhidrosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000975
21 hypopigmented skin patches64 54 occasional (7.5%) Occasional (29-5%) HP:0001053
22 hand polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001161
23 acute leukemia64 54 occasional (7.5%) Occasional (29-5%) HP:0002488
24 lymphoma64 54 occasional (7.5%) Occasional (29-5%) HP:0002665
25 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
26 neoplasm of the gastrointestinal tract64 54 occasional (7.5%) Occasional (29-5%) HP:0007378
27 ichthyosis64 54 occasional (7.5%) Occasional (29-5%) HP:0008064
28 neoplasm of the skin64 occasional (7.5%) HP:0008069
29 reduced number of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0009804
30 cognitive impairment64 occasional (7.5%) HP:0100543
31 azoospermia64 54 Occasional (29-5%) HP:0000027
32 cryptorchidism64 HP:0000028
33 malar flattening64 54 Very frequent (99-80%) HP:0000272
34 protruding ear64 54 Occasional (29-5%) HP:0000411
35 prominent nose64 HP:0000448
36 agenesis of maxillary lateral incisor64 HP:0000690
37 decreased fertility in females64 54 Occasional (29-5%) HP:0000868
38 cafe-au-lait spot64 HP:0000957
39 hypertrichosis64 HP:0000998
40 syndactyly64 HP:0001159
41 intellectual disability, mild64 54 Occasional (29-5%) HP:0001256
42 specific learning disability64 HP:0001328
43 high pitched voice64 54 Frequent (79-30%) HP:0001620
44 leukemia64 HP:0001909
45 bronchiectasis64 HP:0002110
46 iga deficiency64 54 Occasional (29-5%) HP:0002720
47 igm deficiency64 54 Occasional (29-5%) HP:0002850
48 squamous cell carcinoma64 54 Occasional (29-5%) HP:0002860
49 clinodactyly of the 5th finger64 HP:0004209
50 igg deficiency64 54 Occasional (29-5%) HP:0004315
51 spotty hyperpigmentation64 54 Very frequent (99-80%) HP:0005585
52 spotty hypopigmentation64 HP:0005590
53 facial telangiectasia in butterfly midface distribution64 54 Very frequent (99-80%) HP:0005598
54 type ii diabetes mellitus64 HP:0005978
55 chronic lung disease64 HP:0006528
56 postnatal growth retardation64 54 Very frequent (99-80%) HP:0008897
57 abnormality of the face54 Frequent (79-30%)
58 abnormality of the nose54 Very frequent (99-80%)
59 abnormality of the skin54 Very frequent (99-80%)
60 neoplasm54 Very frequent (99-80%)
61 decreased antibody level in blood54 Occasional (29-5%)
62 cheekbone underdevelopment54 Frequent (79-30%)
63 erythema54 Very frequent (99-80%)
64 teleangiectasia of the skin54 Frequent (79-30%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-358.8ATM, HELLS, LIG1, LIG3
2GR00250-A-16.6ATM, BLM, FEN1, LIG1, LIG3, RAD51
3GR00250-A-36.5ATM, BLM, FEN1, LIG1, LIG3, RAD51

MGI Mouse Phenotypes related to Bloom Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2ATM, BLM, HELLS, LIG1, RECQL4, WRN
2MP:00053758.0ATM, FEN1, HELLS, RECQL4, WRN
3MP:00053797.9ATM, FEN1, HELLS, LIG1, RECQL4, WRN
4MP:00020067.7ATM, BLM, FEN1, LIG1, PML, RECQL4
5MP:00053807.3ATM, BLM, FEN1, HELLS, LIG1, LIG3
6MP:00053877.2ATM, BLM, FEN1, HELLS, LIG1, PML
7MP:00053977.1ATM, BLM, FEN1, HELLS, LIG1, PML
8MP:00053786.7ATM, BLM, FEN1, HELLS, LIG1, LIG3
9MP:00107686.3ATM, BLM, FEN1, HELLS, LIG1, LIG3
10MP:00053845.6ATM, BLM, FEN1, HELLS, LIG1, LIG3

Drugs & Therapeutics for Bloom Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
2HormonesPhase 213979
3Hormone AntagonistsPhase 212778

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Use of the Hormone Kisspeptin in 'in Vitro Fertilisation' (IVF) TreatmentRecruitingNCT01667406Phase 2
2Biological Significance of the Bloom's Syndrome ProteinCompletedNCT00021437

Search NIH Clinical Center for Bloom Syndrome


Cochrane evidence based reviews: bloom syndrome

Genetic Tests for Bloom Syndrome

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Genetic tests related to Bloom Syndrome:

id Genetic test Affiliating Genes
1 Bloom Syndrome27 24 BLM

Anatomical Context for Bloom Syndrome

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MalaCards organs/tissues related to Bloom Syndrome:

36
Skin, Lung, Bone, Eye, B cells, Breast, Colon

Publications for Bloom Syndrome

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Articles related to Bloom Syndrome:

(show top 50)    (show all 220)
idTitleAuthorsYear
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
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. (27597923)
2016
4
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. (26788541)
2016
5
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. (28063379)
2016
6
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. (27966805)
2016
7
Burkitt lymphoma in a child with Bloom syndrome. (26774895)
2016
8
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. (26919505)
2016
9
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. (27185886)
2016
10
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. (26340805)
2015
11
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. (25673821)
2015
12
23andme obtains permission to market Bloom syndrome test. (26017705)
2015
13
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. (25559542)
2015
14
Bloom syndrome with extensive pulmonary involvement in a child. (25814763)
2015
15
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? (25341612)
2014
16
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. (24435566)
2014
17
Bloom syndrome. (24602044)
2014
18
Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM. (25766002)
2014
19
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
20
Proton beam therapy for malignancy in Bloom syndrome. (23443610)
2013
21
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. (24932421)
2013
22
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. (24377487)
2013
23
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. (23708797)
2013
24
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. (23908384)
2013
25
Bloom syndrome: report of two cases in siblings. (22998028)
2013
26
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. (23928670)
2013
27
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. (24118499)
2013
28
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. (24257077)
2013
29
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. (23572515)
2013
30
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. (22272300)
2012
31
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. (22392978)
2012
32
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. (23129629)
2012
33
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. (23110454)
2012
34
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. (21300576)
2011
35
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. (22183041)
2011
36
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. (21736299)
2011
37
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. (21730139)
2011
38
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. (21712816)
2011
39
Critical interaction domains between bloom syndrome protein and RAD51. (21113733)
2011
40
Augmented cell death with Bloom syndrome helicase deficiency. (21567087)
2011
41
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. (21778134)
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
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential. (19966276)
2010
45
Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (20826341)
2010
46
Bloom syndrome in two siblings. (20537070)
2010
47
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency. (20215422)
2010
48
Structure and function of the regulatory HRDC domain from human Bloom syndrome protein. (20639533)
2010
49
An unusual case of Bloom syndrome presenting with basal cell carcinoma. (19076197)
2009
50
Bloom syndrome with lung involvement. (20442845)
2009

Variations for Bloom Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1BLMp.Gln672ArgVAR_006901rs747281324
2BLMp.Thr843IleVAR_006902rs137853152
3BLMp.Cys1055SerVAR_006903rs367543029
4BLMp.Gly891GluVAR_009138
5BLMp.Cys901TyrVAR_009139rs758311406
6BLMp.Cys1036PheVAR_009140rs137853153
7BLMp.Ile841ThrVAR_016032rs767086502
8BLMp.Cys878ArgVAR_016033

Clinvar genetic disease variations for Bloom Syndrome:

5 (show all 74)
id Gene Variation Type Significance SNP ID Assembly Location
1BLMNM_000057.3(BLM): c.1642C> T (p.Gln548Ter)SNVPathogenicrs200389141GRCh38Chr 15, 90761015: 90761015
2BLMNM_000057.3(BLM): c.2695C> T (p.Arg899Ter)SNVLikely pathogenic, Pathogenicrs587779884GRCh38Chr 15, 90784953: 90784953
3BLMNM_000057.3(BLM): c.3415C> T (p.Arg1139Ter)SNVPathogenicrs587783037GRCh38Chr 15, 90803577: 90803577
4BLMNM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs)insertionLikely pathogenic, Pathogenicrs786204471GRCh38Chr 15, 90766966: 90766967
5BLMNM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs)deletionLikely pathogenicrs786204524GRCh38Chr 15, 90754842: 90754846
6BLMNM_000057.3(BLM): c.2015A> G (p.Gln672Arg)SNVLikely pathogenicrs747281324GRCh38Chr 15, 90763098: 90763098
7BLMNM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs)deletionLikely pathogenicrs786204640GRCh38Chr 15, 90749849: 90749850
8BLMNM_000057.3(BLM): c.3028delG (p.Asp1010Metfs)deletionLikely pathogenicrs780379121GRCh38Chr 15, 90794175: 90794175
9BLMNM_000057.3(BLM): c.2207_2212delATCTGAins7indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
10BLMNM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs)insertionLikely pathogenicrs797045115GRCh38Chr 15, 90790839: 90790840
11BLMNM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs)deletionPathogenicrs864622347GRCh38Chr 15, 90782846: 90782847
12BLMNM_000057.3(BLM): c.3558+1G> TSNVLikely pathogenic, Pathogenicrs148969222GRCh38Chr 15, 90803721: 90803721
13BLMNM_000057.3(BLM): c.2206dupT (p.Tyr736Leufs)duplicationPathogenicrs886051551GRCh37Chr 15, 91310152: 91310152
14BLMNM_000057.2: c.3305_3306delATdeletionLikely pathogenicChr na, -1: -1
15BLMNM_000057.2: c.4000_4004del5deletionLikely pathogenicChr na, -1: -1
16BLMNM_000057.2: c.443dupTduplicationLikely pathogenicChr na, -1: -1
17BLMNM_000057.2: c.98+1G> TSNVLikely pathogenicChr na, -1: -1
18BLMNM_000057.2: c.1720_1735del16deletionLikely pathogenicChr na, -1: -1
19BLMNM_000057.2: c.2720_2726del7deletionLikely pathogenicChr na, -1: -1
20BLMNM_000057.2: c.3638delAdeletionLikely pathogenicChr na, -1: -1
21BLMNM_000057.2: c.2T> CSNVLikely pathogenicChr na, -1: -1
22BLMNM_000057.2: c.2821C> TSNVLikely pathogenicChr na, -1: -1
23BLMNM_000057.2: c.3022delGdeletionLikely pathogenicChr na, -1: -1
24BLMNM_000057.2: c.3855C> ASNVLikely pathogenicChr na, -1: -1
25BLMNM_000057.2: c.3400G> TSNVLikely pathogenicChr na, -1: -1
26BLMNM_000057.2: c.3875-2A> GSNVLikely pathogenicChr na, -1: -1
27BLMNM_000057.2: c.1764_1777del14deletionLikely pathogenicChr na, -1: -1
28BLMNC_000015.9: g.91303887G> ASNVLikely pathogenicChr na, -1: -1
29BLMNC_000015.9: g.91290721G> ASNVLikely pathogenicChr na, -1: -1
30BLMNM_000057.2: c.1479_1480delTAdeletionLikely pathogenicChr na, -1: -1
31BLMNC_000015.9: g.91298164_91298165delTGdeletionLikely pathogenicChr na, -1: -1
32BLMNC_000015.9: g.91347505dupAduplicationLikely pathogenicChr na, -1: -1
33BLMNC_000015.9: g.91293160_91293163delCTGAdeletionLikely pathogenicChr na, -1: -1
34BLMNM_000057.2: c.1722_1725delAGCAinsGGCindelLikely pathogenicChr na, -1: -1
35BLMNM_000057.2: c.1003_1006dupCTTAduplicationLikely pathogenicChr na, -1: -1
36BLMNM_000057.2: c.298_299delCAdeletionLikely pathogenicChr na, -1: -1
37BLMNM_000057.2: c.2824-2A> TSNVLikely pathogenicChr na, -1: -1
38BLMNM_000057.2: c.1795delAdeletionLikely pathogenicChr na, -1: -1
39BLMNM_000057.2: c.1740delCdeletionLikely pathogenicChr na, -1: -1
40BLMNM_000057.3(BLM): c.1088-2A> GSNVPathogenicrs367543015GRCh37Chr 15, 91303375: 91303375
41BLMNM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs)duplicationPathogenicrs367543043GRCh37Chr 15, 91304147: 91304147
42BLMNM_000057.3(BLM): c.1628T> A (p.Leu543Ter)SNVPathogenicrs367543038GRCh37Chr 15, 91304231: 91304231
43BLMNM_000057.3(BLM): c.2074+1G> TSNVLikely pathogenic, Pathogenicrs367543036GRCh37Chr 15, 91306388: 91306388
44BLMNM_000057.3(BLM): c.2098C> T (p.Gln700Ter)SNVPathogenicrs367543028GRCh37Chr 15, 91308549: 91308549
45BLMNM_000057.3(BLM): c.2193+2T> GSNVPathogenicrs367543040GRCh37Chr 15, 91308646: 91308646
46BLMNM_000057.2(BLM): c.2308-953_2555+4719deldeletionPathogenicGRCh37Chr 15, 91311410: 91317535
47BLMNM_000057.3(BLM): c.2406+2T> GSNVPathogenicrs367543016GRCh37Chr 15, 91312463: 91312463
48BLMNM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs)deletionPathogenicrs367543024GRCh37Chr 15, 91312767: 91312768
49BLMNM_000057.3(BLM): c.2643G> A (p.Trp881Ter)SNVPathogenicrs367543039GRCh37Chr 15, 91326139: 91326139
50BLMNM_000057.3(BLM): c.275delA (p.Asn92Metfs)deletionPathogenicrs367543027GRCh37Chr 15, 91292773: 91292773
51BLMNM_000057.3(BLM): c.2855G> T (p.Gly952Val)SNVPathogenicrs367543034GRCh37Chr 15, 91333910: 91333910
52BLMNM_000057.3(BLM): c.2887C> T (p.His963Tyr)SNVPathogenicrs367543023GRCh37Chr 15, 91333942: 91333942
53BLMNM_000057.3(BLM): c.2923delC (p.Gln975Lysfs)deletionPathogenicrs367543014GRCh37Chr 15, 91333978: 91333978
54BLMNM_000057.3(BLM): c.311C> A (p.Ser104Ter)SNVPathogenicrs367543030GRCh37Chr 15, 91292809: 91292809
55BLMNM_000057.3(BLM): c.3164G> C (p.Cys1055Ser)SNVPathogenicrs367543029GRCh37Chr 15, 91337541: 91337541
56BLMNM_000057.3(BLM): c.3191A> T (p.Asp1064Val)SNVPathogenicrs367543032GRCh37Chr 15, 91337568: 91337568
57BLMNM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr)SNVPathogenicrs367543025GRCh37Chr 15, 91337574: 91337574
58BLMNM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs)duplicationPathogenicrs367543022GRCh37Chr 15, 91341432: 91341432
59BLMNM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs)insertionPathogenicrs367543037GRCh37Chr 15, 91341464: 91341465
60BLMNM_000057.3(BLM): c.3278C> G (p.Ser1093Ter)SNVPathogenicrs367543017GRCh37Chr 15, 91341487: 91341487
61BLMNM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs)deletionLikely pathogenic, Pathogenicrs367543033GRCh37Chr 15, 91346867: 91346868
62BLMNM_000057.3(BLM): c.3558+1G> ASNVPathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
63BLMNM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs)deletionPathogenicrs367543018GRCh37Chr 15, 91347425: 91347425
64BLMNM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs)deletionPathogenicrs367543020GRCh37Chr 15, 91347519: 91347519
65BLMNM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs)duplicationPathogenicrs367543021GRCh37Chr 15, 91347565: 91347565
66BLMNM_000057.3(BLM): c.3847C> T (p.Gln1283Ter)SNVPathogenicrs367543031GRCh37Chr 15, 91352462: 91352462
67BLMNM_000057.3(BLM): c.582delT (p.Phe194Leufs)deletionPathogenicrs367543026GRCh37Chr 15, 91293080: 91293080
68BLMNM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs)deletionLikely pathogenic, Pathogenicrs367543013GRCh37Chr 15, 91293270: 91293271
69BLMNM_000057.3(BLM): c.3751+(?_0)_*(177_?)deldeletionPathogenicGRCh37Chr 15, 91347589: 91358686
70BLMNM_000057.3(BLM): c.2407dupT (p.Trp803Leufs)duplicationPathogenicrs367543012GRCh37Chr 15, 91312668: 91312668
71BLMNM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs)duplicationLikely pathogenic, Pathogenicrs367543019GRCh37Chr 15, 91312749: 91312749
72BLMNM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
73BLMNM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer)deletionPathogenicrs367543035GRCh37Chr 15, 91293055: 91293057
74BLMNM_000057.3(BLM): c.3107G> T (p.Cys1036Phe)SNVPathogenicrs137853153GRCh37Chr 15, 91337484: 91337484

Expression for genes affiliated with Bloom Syndrome

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Search GEO for disease gene expression data for Bloom Syndrome.

Pathways for genes affiliated with Bloom Syndrome

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Pathways related to Bloom Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.8ATM, BLM
29.7ATM, RAD51
39.6FEN1, WRN
49.5ATM, BLM, WRN
5
Show member pathways
9.4ATM, BLM, RAD51
6
Show member pathways
9.1ATM, BLM, RAD51, WRN
7
Show member pathways
9.0ATM, BLM, PML, WRN
89.0ATM, BLM, PML, RAD51
9
Show member pathways
8.9FEN1, LIG1, LIG3, WRN
10
Show member pathways
8.9ATM, BLM, HELLS, RAD51
118.4ATM, BLM, LIG1, PML, RAD51, WRN
12
Show member pathways
8.4ATM, FEN1, LIG1, LIG3, RAD51
13
Show member pathways
8.2ATM, BLM, FEN1, LIG1, RAD51, WRN
14
Show member pathways
7.8ATM, BLM, FEN1, LIG1, LIG3, RAD51
156.8ATM, BLM, FEN1, RAD51, RECQL, RECQL4

GO Terms for genes affiliated with Bloom Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1lateral elementGO:000080010.7BLM, RAD51
2chromosome, telomeric regionGO:000078110.6ATM, BLM
3chromosomeGO:00056949.6RECQL, RECQL4, RECQL5
4PML bodyGO:00166059.5BLM, PML, RAD51
5nucleolusGO:00057309.4BLM, FEN1, PML, RAD51, WRN
6nuclear chromosome, telomeric regionGO:00007849.2ATM, FEN1, PML, RAD51, WRN
7nucleoplasmGO:00056547.4ATM, BLM, FEN1, LIG1, LIG3, PML
8nucleusGO:00056345.8ATM, BLM, FEN1, HELLS, LIG1, LIG3

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1cellular response to camptothecinGO:007275710.6BLM, RAD51
2cellular response to hydroxyureaGO:007271110.6BLM, RAD51
3cellular response to ionizing radiationGO:007147910.6BLM, RAD51
4DNA biosynthetic processGO:007189710.5LIG1, LIG3
5cell agingGO:000756910.5PML, WRN
6DNA double-strand break processingGO:000072910.5ATM, BLM
7nucleotide-excision repair, DNA gap fillingGO:000629710.5LIG1, LIG3
8response to X-rayGO:001016510.4BLM, RAD51
9regulation of protein phosphorylationGO:000193210.3PML, RAD51
10reciprocal meiotic recombinationGO:000713110.3ATM, RAD51
11DNA metabolic processGO:000625910.3LIG1, RECQL5, WRN
12protein sumoylationGO:001692510.1BLM, PML, WRN
13cellular response to gamma radiationGO:007148010.1ATM, RAD51, WRN
14replication fork processingGO:003129710.1BLM, RAD51, WRN
15cellular response to DNA damage stimulusGO:00069749.8ATM, BLM, RAD51, WRN
16DNA synthesis involved in DNA repairGO:00007319.8ATM, BLM, RAD51, WRN
17DNA recombinationGO:00063109.8BLM, RAD51, RECQL4
18cell divisionGO:00513019.7HELLS, LIG1, LIG3, RECQL5
19regulation of signal transduction by p53 class mediatorGO:19017969.6ATM, BLM, PML, WRN
20strand displacementGO:00007329.5ATM, BLM, RAD51, WRN
21DNA strand renaturationGO:00007339.5BLM, RECQL, RECQL4
22V(D)J recombinationGO:00331519.4ATM, LIG1, LIG3
23base-excision repairGO:00062849.2FEN1, LIG1, RECQL4, WRN
24telomere maintenance via recombinationGO:00007229.2FEN1, LIG1, RAD51, WRN
25double-strand break repairGO:00063029.0FEN1, LIG3, RECQL4, WRN
26DNA duplex unwindingGO:00325089.0BLM, RECQL, RECQL4, RECQL5, WRN
27DNA replicationGO:00062608.4ATM, BLM, FEN1, RECQL4, RECQL5, WRN
28double-strand break repair via homologous recombinationGO:00007248.2ATM, BLM, FEN1, LIG3, RAD51, RECQL
29DNA repairGO:00062817.5ATM, BLM, FEN1, LIG1, RAD51, RECQL

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1G-quadruplex DNA bindingGO:005188010.5BLM, WRN
2DNA ligase (ATP) activityGO:000391010.4LIG1, LIG3
3DNA ligase activityGO:000390910.4LIG1, LIG3
4ATP-dependent DNA helicase activityGO:000400310.1BLM, RECQL, WRN
5exonuclease activityGO:000452710.1FEN1, WRN
6DNA helicase activityGO:00036789.9RECQL, RECQL5, WRN
7bubble DNA bindingGO:00004059.8BLM, RECQL4, WRN
8annealing helicase activityGO:00363109.6BLM, RECQL, RECQL4
9helicase activityGO:00043869.4BLM, HELLS, WRN
10ATP-dependent 3-5 DNA helicase activityGO:00431409.0BLM, RECQL, RECQL4, RECQL5, WRN
11four-way junction helicase activityGO:00093788.8BLM, RECQL, RECQL4, RECQL5, WRN
12DNA bindingGO:00036777.8ATM, FEN1, LIG1, LIG3, PML, RECQL
13ATP bindingGO:00055247.0ATM, BLM, HELLS, LIG1, LIG3, RAD51

Sources for Bloom Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet