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

About this section
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

About this section
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 osteochondrodysplasia and lymphoma, and has symptoms including Array, Array and Array. An important gene associated with Bloom Syndrome is BLM (Bloom Syndrome RecQ Like Helicase), and among its related pathways are DNA damage_NHEJ mechanisms of DSBs repair and BARD1 signaling events. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) 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

About this section

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



Diseases related to bloom syndrome

Symptoms & Phenotypes for Bloom Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

210900

Clinical features from OMIM:

210900

Human phenotypes related to Bloom Syndrome:

 54 64 (show all 57)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia64 54 Occasional (29-5%) HP:0000027
2 sinusitis64 54 Very frequent (99-80%) HP:0000246
3 microcephaly64 54 Occasional (29-5%) HP:0000252
4 dolichocephaly64 54 Very frequent (99-80%) HP:0000268
5 abnormality of the face54 Frequent (79-30%)
6 malar flattening64 54 Very frequent (99-80%) HP:0000272
7 narrow face64 54 Very frequent (99-80%) HP:0000275
8 abnormality of the nose54 Very frequent (99-80%)
9 protruding ear64 54 Occasional (29-5%) HP:0000411
10 decreased fertility in females64 54 Occasional (29-5%) HP:0000868
11 abnormality of the skin54 Very frequent (99-80%)
12 sacral dimple64 54 Occasional (29-5%) HP:0000960
13 hyperhidrosis64 54 Occasional (29-5%) HP:0000975
14 cutaneous photosensitivity64 54 Frequent (79-30%) HP:0000992
15 hypopigmented skin patches64 54 Occasional (29-5%) HP:0001053
16 hand polydactyly64 54 Occasional (29-5%) HP:0001161
17 intellectual disability, mild64 54 Occasional (29-5%) HP:0001256
18 intrauterine growth retardation64 54 Very frequent (99-80%) HP:0001511
19 high pitched voice64 54 Frequent (79-30%) HP:0001620
20 diarrhea64 54 Very frequent (99-80%) HP:0002014
21 recurrent respiratory infections64 54 Very frequent (99-80%) HP:0002205
22 acute leukemia64 54 Occasional (29-5%) HP:0002488
23 neoplasm54 Very frequent (99-80%)
24 lymphoma64 54 Occasional (29-5%) HP:0002665
25 iga deficiency64 54 Occasional (29-5%) HP:0002720
26 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
27 igm deficiency64 54 Occasional (29-5%) HP:0002850
28 squamous cell carcinoma64 54 Occasional (29-5%) HP:0002860
29 short nose64 54 Frequent (79-30%) HP:0003196
30 abnormality of chromosome stability64 54 Very frequent (99-80%) HP:0003220
31 decreased antibody level in blood54 Occasional (29-5%)
32 igg deficiency64 54 Occasional (29-5%) HP:0004315
33 short stature64 54 Very frequent (99-80%) HP:0004322
34 spotty hyperpigmentation64 54 Very frequent (99-80%) HP:0005585
35 facial telangiectasia in butterfly midface distribution64 54 Very frequent (99-80%) HP:0005598
36 finger syndactyly64 54 Occasional (29-5%) HP:0006101
37 neoplasm of the gastrointestinal tract64 54 Occasional (29-5%) HP:0007378
38 ichthyosis64 54 Occasional (29-5%) HP:0008064
39 postnatal growth retardation64 54 Very frequent (99-80%) HP:0008897
40 reduced number of teeth64 54 Occasional (29-5%) HP:0009804
41 cheekbone underdevelopment54 Frequent (79-30%)
42 erythema64 54 Very frequent (99-80%) HP:0010783
43 teleangiectasia of the skin54 Frequent (79-30%)
44 cryptorchidism64 HP:0000028
45 prominent nose64 HP:0000448
46 agenesis of maxillary lateral incisor64 HP:0000690
47 cafe-au-lait spot64 HP:0000957
48 hypertrichosis64 HP:0000998
49 syndactyly64 HP:0001159
50 specific learning disability64 HP:0001328
51 leukemia64 HP:0001909
52 bronchiectasis64 HP:0002110
53 clinodactyly of the 5th finger64 HP:0004209
54 spotty hypopigmentation64 HP:0005590
55 type ii diabetes mellitus64 HP:0005978
56 chronic lung disease64 HP:0006528
57 hypoplasia of the zygomatic bone64 HP:0010669

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-36.7ATM, BLM, FANCM, FEN1, LIG1, LIG3
2GR00250-A-15.5ATM, BLM, FANCM, FEN1, LIG1, LIG3

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2ATM, FEN1, HELLS, RECQL4, WRN
2MP:00107718.9ATM, BLM, HELLS, LIG1, RECQL4, WRN
3MP:00053798.3ATM, FANCM, FEN1, HELLS, LIG1, RECQL4
4MP:00053808.2ATM, BLM, FEN1, HELLS, LIG1, LIG3
5MP:00053878.1ATM, BLM, FEN1, HELLS, LIG1, PML
6MP:00020067.9ATM, BLM, FANCM, FEN1, LIG1, PML
7MP:00053787.9ATM, BLM, FEN1, HELLS, LIG1, LIG3
8MP:00053977.6ATM, BLM, FANCM, FEN1, HELLS, LIG1
9MP:00107686.8ATM, BLM, FANCM, FEN1, HELLS, LIG1
10MP:00053845.8ATM, BLM, FANCM, FEN1, HELLS, LIG1

Drugs & Therapeutics for Bloom Syndrome

About this section

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocaineapprovedPhase 320161994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
2
CalfactantapprovedPhase 313183325-78-2
Synonyms:
 
Calf lung surfactant extract (CLSE)
3tannic acidapproved, NutraceuticalPhase 32016
4Respiratory System AgentsPhase 34997
5Pulmonary SurfactantsPhase 3111
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
7Hormone AntagonistsPhase 213180
8HormonesPhase 214415

Interventional clinical trials:

idNameStatusNCT IDPhase
1Comparison of Aerosol Delivery of Infasurf to Usual Care in Spontaneously Breathing RDS PatientsRecruitingNCT03058666Phase 3
2The Use of the Hormone Kisspeptin in 'in Vitro Fertilisation' (IVF) TreatmentRecruitingNCT01667406Phase 2
3Biological Significance of the Bloom's Syndrome ProteinCompletedNCT00021437
4Vanderbilt ICU Recovery Program Pilot TrialRecruitingNCT03124342

Search NIH Clinical Center for Bloom Syndrome


Cochrane evidence based reviews: bloom syndrome

Genetic Tests for Bloom Syndrome

About this section

Genetic tests related to Bloom Syndrome:

id Genetic test Affiliating Genes
1 Bloom Syndrome27 24 BLM

Anatomical Context for Bloom Syndrome

About this section

MalaCards organs/tissues related to Bloom Syndrome:

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

Publications for Bloom Syndrome

About this section

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
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

About this section

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 79)
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)SNVPathogenic/ Likely 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)insertionPathogenic/ Likely 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> TSNVPathogenic/ Likely pathogenicrs148969222GRCh38Chr 15, 90803721: 90803721
13BLMNM_ 000057.3(BLM): c.2206dupT (p.Tyr736Leufs)duplicationPathogenicrs886051551GRCh37Chr 15, 91310152: 91310152
14BLMNM_ 000057.3(BLM): c.3305_ 3306delAT (p.His1102Argfs)deletionLikely pathogenicrs1057516253GRCh37Chr 15, 91341514: 91341515
15BLMNM_ 000057.3(BLM): c.4000_ 4004delAGGAA (p.Arg1334Glufs)deletionLikely pathogenicrs1057516261GRCh37Chr 15, 91354560: 91354564
16BLMNM_ 000057.3(BLM): c.443dupT (p.Leu148Phefs)duplicationLikely pathogenicrs1057516297GRCh38Chr 15, 90749711: 90749711
17BLMNM_ 000057.3(BLM): c.98+1G> TSNVLikely pathogenicrs750293380GRCh38Chr 15, 90747491: 90747491
18BLMNM_ 000057.3(BLM): c.1720_ 1735del16 (p.Ala575Profs)deletionLikely pathogenicrs1057516361GRCh38Chr 15, 90761093: 90761108
19BLMNM_ 000057.3(BLM): c.2720_ 2726delCGTTACA (p.Thr907Argfs)deletionLikely pathogenicrs1057516452GRCh37Chr 15, 91328208: 91328214
20BLMNM_ 000057.3(BLM): c.3638delA (p.Glu1213Glyfs)deletionLikely pathogenicrs1057516547GRCh38Chr 15, 90804246: 90804246
21BLMNM_ 000057.3(BLM): c.2T> C (p.Met1Thr)SNVLikely pathogenicrs1057516593GRCh38Chr 15, 90747394: 90747394
22BLMNM_ 000057.3(BLM): c.2821C> T (p.Gln941Ter)SNVLikely pathogenicrs1057516700GRCh38Chr 15, 90785079: 90785079
23BLMNM_ 000057.3(BLM): c.3022delG (p.Glu1008Lysfs)deletionLikely pathogenicrs1057516719GRCh38Chr 15, 90794169: 90794169
24BLMNM_ 000057.3(BLM): c.3855C> A (p.Tyr1285Ter)SNVLikely pathogenicrs1057516728GRCh37Chr 15, 91352470: 91352470
25BLMNM_ 000057.3(BLM): c.3400G> T (p.Gly1134Ter)SNVLikely pathogenicrs1057516774GRCh37Chr 15, 91346792: 91346792
26BLMNM_ 000057.3(BLM): c.3875-2A> GSNVLikely pathogenicrs150421256GRCh38Chr 15, 90811203: 90811203
27BLMNM_ 000057.3(BLM): c.1764_ 1777delGGAAGGTCGGCCAA (p.Lys588Asnfs)deletionLikely pathogenicrs1057516956GRCh37Chr 15, 91304367: 91304380
28BLMNM_ 000057.3(BLM): c.1284G> A (p.Trp428Ter)SNVLikely pathogenicrs1057516964GRCh37Chr 15, 91303887: 91303887
29BLMNM_ 000057.3(BLM): c.98+1G> ASNVLikely pathogenicrs750293380GRCh37Chr 15, 91290721: 91290721
30BLMNM_ 000057.3(BLM): c.1479_ 1480delTA (p.Thr494Profs)deletionLikely pathogenicrs1057517013GRCh38Chr 15, 90760852: 90760853
31BLMNM_ 000057.3(BLM): c.1083_ 1084delTG (p.Cys361Terfs)deletionLikely pathogenicrs1057517030GRCh37Chr 15, 91298164: 91298165
32BLMNM_ 000057.3(BLM): c.3667dupA (p.Thr1223Asnfs)duplicationLikely pathogenicrs1057517154GRCh38Chr 15, 90804275: 90804275
33BLMNM_ 000057.3(BLM): c.662_ 665delCTGA (p.Thr221Argfs)deletionLikely pathogenicrs1057517229GRCh37Chr 15, 91293160: 91293163
34BLMNM_ 000057.3(BLM): c.1722_ 1725delAGCAinsGGC (p.Ala576Profs)indelLikely pathogenicrs1057517266GRCh38Chr 15, 90761095: 90761098
35BLMNM_ 000057.3(BLM): c.1003_ 1006dupCTTA (p.Ser336Thrfs)duplicationLikely pathogenicrs1057517359GRCh37Chr 15, 91298084: 91298087
36BLMNM_ 000057.3(BLM): c.298_ 299delCA (p.Gln100Glufs)deletionLikely pathogenicrs1057517374GRCh38Chr 15, 90749566: 90749567
37BLMNM_ 000057.3(BLM): c.2824-2A> TSNVLikely pathogenicrs745538883GRCh38Chr 15, 90790647: 90790647
38BLMNM_ 000057.3(BLM): c.1795delA (p.Arg599Aspfs)deletionLikely pathogenicrs1057517431GRCh37Chr 15, 91304398: 91304398
39BLMNM_ 000057.3(BLM): c.1740delC (p.Thr581Glnfs)deletionLikely pathogenicrs1057517432GRCh37Chr 15, 91304343: 91304343
40BLMNM_ 000057.3(BLM): c.1544delA (p.Asn515Metfs)deletionPathogenicrs1057518690GRCh37Chr 15, 91304147: 91304147
41BLMNM_ 000057.3(BLM): c.2875C> T (p.Arg959Ter)SNVPathogenicrs762354041GRCh38Chr 15, 90790700: 90790700
42BLMNM_ 000057.3(BLM): c.320dupT (p.Leu107Phefs)duplicationPathogenicGRCh38Chr 15, 90749588: 90749588
43BLMNM_ 000057.3(BLM): c.2343_ 2344dupGA (p.Asn782Argfs)duplicationPathogenicGRCh38Chr 15, 90769168: 90769169
44BLMNM_ 000057.3(BLM): c.2193+1_ 2193+9deldeletionLikely pathogenicrs1060500652GRCh38Chr 15, 90765415: 90765423
45BLMNM_ 000057.3(BLM): c.1088-2A> GSNVPathogenicrs367543015GRCh37Chr 15, 91303375: 91303375
46BLMNM_ 000057.3(BLM): c.1544dupA (p.Asn515Lysfs)duplicationPathogenicrs367543043GRCh37Chr 15, 91304147: 91304147
47BLMNM_ 000057.3(BLM): c.1628T> A (p.Leu543Ter)SNVPathogenicrs367543038GRCh37Chr 15, 91304231: 91304231
48BLMNM_ 000057.3(BLM): c.2074+1G> TSNVPathogenic/ Likely pathogenicrs367543036GRCh37Chr 15, 91306388: 91306388
49BLMNM_ 000057.3(BLM): c.2098C> T (p.Gln700Ter)SNVPathogenicrs367543028GRCh37Chr 15, 91308549: 91308549
50BLMNM_ 000057.3(BLM): c.2193+2T> GSNVPathogenicrs367543040GRCh37Chr 15, 91308646: 91308646
51BLMNM_ 000057.2(BLM): c.2308-953_ 2555+4719deldeletionPathogenicGRCh37Chr 15, 91311410: 91317535
52BLMNM_ 000057.3(BLM): c.2406+2T> GSNVPathogenicrs367543016GRCh37Chr 15, 91312463: 91312463
53BLMNM_ 000057.3(BLM): c.2506_ 2507delAG (p.Arg836Glyfs)deletionPathogenicrs367543024GRCh37Chr 15, 91312767: 91312768
54BLMNM_ 000057.3(BLM): c.2643G> A (p.Trp881Ter)SNVPathogenicrs367543039GRCh37Chr 15, 91326139: 91326139
55BLMNM_ 000057.3(BLM): c.275delA (p.Asn92Metfs)deletionPathogenicrs367543027GRCh37Chr 15, 91292773: 91292773
56BLMNM_ 000057.3(BLM): c.2855G> T (p.Gly952Val)SNVPathogenicrs367543034GRCh37Chr 15, 91333910: 91333910
57BLMNM_ 000057.3(BLM): c.2887C> T (p.His963Tyr)SNVPathogenicrs367543023GRCh37Chr 15, 91333942: 91333942
58BLMNM_ 000057.3(BLM): c.2923delC (p.Gln975Lysfs)deletionPathogenicrs367543014GRCh37Chr 15, 91333978: 91333978
59BLMNM_ 000057.3(BLM): c.311C> A (p.Ser104Ter)SNVPathogenicrs367543030GRCh37Chr 15, 91292809: 91292809
60BLMNM_ 000057.3(BLM): c.3164G> C (p.Cys1055Ser)SNVPathogenicrs367543029GRCh37Chr 15, 91337541: 91337541
61BLMNM_ 000057.3(BLM): c.3191A> T (p.Asp1064Val)SNVPathogenicrs367543032GRCh37Chr 15, 91337568: 91337568
62BLMNM_ 000057.3(BLM): c.3197G> A (p.Cys1066Tyr)SNVPathogenicrs367543025GRCh37Chr 15, 91337574: 91337574
63BLMNM_ 000057.3(BLM): c.3223dupA (p.Arg1075Lysfs)duplicationPathogenicrs367543022GRCh37Chr 15, 91341432: 91341432
64BLMNM_ 000057.3(BLM): c.3255_ 3256insT (p.Arg1086Terfs)insertionPathogenicrs367543037GRCh37Chr 15, 91341464: 91341465
65BLMNM_ 000057.3(BLM): c.3278C> G (p.Ser1093Ter)SNVPathogenicrs367543017GRCh37Chr 15, 91341487: 91341487
66BLMNM_ 000057.3(BLM): c.3475_ 3476delTT (p.Leu1159Ilefs)deletionPathogenic/ Likely pathogenicrs367543033GRCh37Chr 15, 91346867: 91346868
67BLMNM_ 000057.3(BLM): c.3558+1G> ASNVPathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
68BLMNM_ 000057.3(BLM): c.3587delG (p.Ser1196Thrfs)deletionPathogenicrs367543018GRCh37Chr 15, 91347425: 91347425
69BLMNM_ 000057.3(BLM): c.3681delA (p.Lys1227Asnfs)deletionPathogenicrs367543020GRCh37Chr 15, 91347519: 91347519
70BLMNM_ 000057.3(BLM): c.3727dupA (p.Thr1243Asnfs)duplicationPathogenicrs367543021GRCh37Chr 15, 91347565: 91347565
71BLMNM_ 000057.3(BLM): c.3847C> T (p.Gln1283Ter)SNVPathogenicrs367543031GRCh37Chr 15, 91352462: 91352462
72BLMNM_ 000057.3(BLM): c.582delT (p.Phe194Leufs)deletionPathogenicrs367543026GRCh37Chr 15, 91293080: 91293080
73BLMNM_ 000057.3(BLM): c.772_ 773delCT (p.Leu258Glufs)deletionPathogenic/ Likely pathogenicrs367543013GRCh37Chr 15, 91293270: 91293271
74BLMNM_ 000057.3(BLM): c.3751+(?_ 0)_ *(177_ ?)deldeletionPathogenicGRCh37Chr 15, 91347589: 91358686
75BLMNM_ 000057.3(BLM): c.2407dupT (p.Trp803Leufs)duplicationPathogenicrs367543012GRCh37Chr 15, 91312668: 91312668
76BLMNM_ 000057.3(BLM): c.2488dupA (p.Thr830Asnfs)duplicationPathogenic/ Likely pathogenicrs367543019GRCh37Chr 15, 91312749: 91312749
77BLMNM_ 000057.3(BLM): c.2207_ 2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
78BLMNM_ 000057.3(BLM): c.557_ 559delCAA (p.Ser186_ Pro521delinsTer)deletionPathogenicrs367543035GRCh37Chr 15, 91293055: 91293057
79BLMNM_ 000057.3(BLM): c.3107G> T (p.Cys1036Phe)SNVPathogenicrs137853153GRCh37Chr 15, 91337484: 91337484

Expression for genes affiliated with Bloom Syndrome

About this section
Search GEO for disease gene expression data for Bloom Syndrome.

Pathways for genes affiliated with Bloom Syndrome

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.9FEN1, WRN
29.6ATM, RAD51
39.4ATM, BLM, WRN
4
Show member pathways
9.4BLM, FANCM, RAD51
5
Show member pathways
9.2FEN1, LIG1, LIG3, WRN
6
Show member pathways
9.1ATM, BLM, RAD51, WRN
7
Show member pathways
9.1ATM, BLM, RAD51, WRN
8
Show member pathways
9.0ATM, BLM, HELLS, RAD51
98.9ATM, BLM, PML, RAD51
10
Show member pathways
8.6ATM, FEN1, LIG1, LIG3, RAD51
11
Show member pathways
8.5ATM, BLM, FEN1, LIG1, RAD51, WRN
12
Show member pathways
7.6ATM, BLM, FANCM, FEN1, LIG1, LIG3
137.0ATM, BLM, FEN1, RAD51, RECQL, RECQL4

GO Terms for genes affiliated with Bloom Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lateral elementGO:000080010.7BLM, RAD51
2replication forkGO:000565710.0BLM, WRN
3PML bodyGO:00166059.8BLM, PML, RAD51
4nuclear chromosome, telomeric regionGO:00007849.7ATM, FEN1, PML, RAD51
5nucleolusGO:00057309.7BLM, FEN1, PML, RAD51, WRN
6chromosome, telomeric regionGO:00007819.6ATM, BLM, RECQL4, WRN
7chromosomeGO:00056949.3RECQL, RECQL4, RECQL5, WRN
8nucleoplasmGO:00056546.8ATM, BLM, FANCM, FEN1, LIG1, LIG3
9nucleusGO:00056345.5ATM, BLM, FANCM, FEN1, HELLS, LIG1

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1cellular metabolic processGO:004423710.7BLM, WRN
2cellular response to hydroxyureaGO:007271110.6BLM, RAD51
3cellular response to ionizing radiationGO:007147910.6BLM, RAD51
4G-quadruplex DNA unwindingGO:004480610.6BLM, WRN
5DNA biosynthetic processGO:007189710.5LIG1, LIG3
6DNA ligationGO:000626610.5LIG1, LIG3
7DNA ligation involved in DNA repairGO:005110310.5LIG1, LIG3
8cell agingGO:000756910.5PML, WRN
9DNA double-strand break processingGO:000072910.4ATM, BLM
10nucleotide-excision repair, DNA gap fillingGO:000629710.4LIG1, LIG3
11response to X-rayGO:001016510.4BLM, RAD51
12t-circle formationGO:009065610.4BLM, WRN
13replication-born double-strand break repair via sister chromatid exchangeGO:199041410.4RAD51, RECQL5
14cellular response to camptothecinGO:007275710.4BLM, RAD51, RECQL5
15chromosome organization involved in meiotic cell cycleGO:007019210.4ATM, RAD51
16reciprocal meiotic recombinationGO:000713110.2ATM, RAD51
17telomere maintenance via recombinationGO:000072210.2FEN1, RAD51
18double-strand break repairGO:000630210.1FEN1, LIG3, WRN
19cellular response to gamma radiationGO:007148010.1ATM, RAD51, WRN
20nucleic acid phosphodiester bond hydrolysisGO:009030510.0FANCM, FEN1, WRN
21cell divisionGO:00513019.8HELLS, LIG1, LIG3, RECQL5
22DNA synthesis involved in DNA repairGO:00007319.8ATM, BLM, RAD51, WRN
23base-excision repairGO:00062849.7FEN1, LIG1, RECQL4, WRN
24replication fork processingGO:00312979.6BLM, FANCM, RAD51, WRN
25strand displacementGO:00007329.6ATM, BLM, RAD51, WRN
26telomeric D-loop disassemblyGO:00618209.6BLM, RECQL4, WRN
27regulation of signal transduction by p53 class mediatorGO:19017969.5ATM, BLM, PML, WRN
28DNA metabolic processGO:00062599.5FANCM, LIG1, RAD51, RECQL5, WRN
29DNA strand renaturationGO:00007339.4BLM, RECQL, RECQL4
30cell cycleGO:00070499.3ATM, HELLS, LIG1, LIG3, RECQL5
31V(D)J recombinationGO:00331519.3ATM, LIG1, LIG3
32DNA duplex unwindingGO:00325088.9BLM, RECQL, RECQL4, RECQL5, WRN
33DNA replicationGO:00062608.2ATM, BLM, FEN1, LIG1, LIG3, RECQL4
34cellular response to DNA damage stimulusGO:00069748.0ATM, BLM, FANCM, FEN1, LIG1, LIG3
35DNA recombinationGO:00063107.9BLM, LIG1, LIG3, RAD51, RECQL, RECQL4
36double-strand break repair via homologous recombinationGO:00007247.3ATM, BLM, FEN1, LIG3, RAD51, RECQL
37DNA repairGO:00062816.5ATM, BLM, FANCM, FEN1, LIG1, LIG3

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
18-hydroxy-2-deoxyguanosine DNA bindingGO:190577310.8BLM, WRN
2forked DNA-dependent helicase activityGO:006174910.7BLM, WRN
3G-quadruplex DNA bindingGO:005188010.7BLM, WRN
4DNA ligase (ATP) activityGO:000391010.5LIG1, LIG3
5DNA ligase activityGO:000390910.5LIG1, LIG3
6four-way junction DNA bindingGO:000040010.4BLM, RAD51, WRN
7bubble DNA bindingGO:000040510.1BLM, RECQL4, WRN
8Y-form DNA bindingGO:000040310.0BLM, WRN
9ATP-dependent DNA helicase activityGO:00040039.9BLM, RECQL, WRN
10chromatin bindingGO:00036829.7FANCM, HELLS, RAD51, WRN
11nuclease activityGO:00045189.7FANCM, FEN1, WRN
12DNA helicase activityGO:00036789.6BLM, RECQL, RECQL5, WRN
13annealing helicase activityGO:00363109.6BLM, RECQL, RECQL4
14oxidized purine DNA bindingGO:00323579.5BLM, RECQL4, WRN
15telomeric D-loop bindingGO:00618219.4BLM, RECQL4, WRN
16ATP-dependent 3-5 DNA helicase activityGO:00431409.0BLM, RECQL, RECQL4, RECQL5, WRN
17ATP-dependent helicase activityGO:00080269.0BLM, RECQL, RECQL4, RECQL5, WRN
18four-way junction helicase activityGO:00093789.0BLM, RECQL, RECQL4, RECQL5, WRN
19hydrolase activityGO:00167878.1BLM, FANCM, FEN1, HELLS, RECQL, RECQL5
20helicase activityGO:00043868.0BLM, FANCM, HELLS, RECQL, RECQL4, RECQL5
21DNA bindingGO:00036776.7ATM, BLM, FANCM, FEN1, LIG1, LIG3
22ATP bindingGO:00055246.6ATM, BLM, FANCM, HELLS, LIG1, LIG3

Sources for Bloom Syndrome

About this section
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