BGS
MCID: BLL001
MIFTS: 58

Baller-Gerold Syndrome (BGS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Baller-Gerold Syndrome

MalaCards integrated aliases for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 57 12 25 20 43 58 72 36 29 13 54 6 15 39 70
Craniosynostosis-Radial Aplasia Syndrome 57 20 43 72
Craniosynostosis with Radial Defects 57 20 43 72
Bgs 57 20 43 72
Craniosynostosis Radial Aplasia Syndrome 44

Characteristics:

Orphanet epidemiological data:

58
baller-gerold syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
baller-gerold syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Baller-Gerold Syndrome

MedlinePlus Genetics : 43 Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose.Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma.The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.

MalaCards based summary : Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to rapadilino syndrome and rothmund-thomson syndrome, type 2. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. Affiliated tissues include skin, eye and kidney, and related phenotypes are frontal bossing and short stature

Disease Ontology : 12 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

GARD : 20 Baller-Gerold syndrome (BGS) is a rare condition primarily affecting the way the bones of the skull and limbs grow. Features include premature fusion of specific skull bones ( craniosynostosis ) and underdevelopment of the bones in the arms and hands (radial ray anomalies). In addition, they may have a characteristic skin condition that includes patches of discoloration and skin breakdown ( poikiloderma ). People with BGS may have growth delay and be at increased risk for certain types of cancer. Intelligence is usually normal. Most cases of BGS are caused by alterations in the RECQL4 gene. It is inherited in an autosomal recessive manner. Treatment may include surgery for craniosynostosis or for reconstruction of the arm and hand. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene.

OMIM® : 57 The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (Galea and Tolmie, 1990). Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; 101400). (218600) (Updated 05-Apr-2021)

KEGG : 36 Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia and craniosynostosis. BGS is caused by mutations in the RECQL4 gene that encodes a member of the RecQ helicase family. The RECQL4 plays a role in the initiation of replication and in several DNA repair pathways.

UniProtKB/Swiss-Prot : 72 Baller-Gerold syndrome: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.

Wikipedia : 73 Baller-Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull... more...

GeneReviews: NBK1204

Related Diseases for Baller-Gerold Syndrome

Diseases related to Baller-Gerold Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 rapadilino syndrome 29.9 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
2 rothmund-thomson syndrome, type 2 29.0 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
3 fanconi anemia, complementation group a 26.5 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
4 craniosynostosis 10.9
5 synostosis 10.4
6 vacterl association 10.4
7 phocomelia 10.4
8 saethre-chotzen syndrome 10.3
9 vater/vacterl association 10.3
10 anus, imperforate 10.3
11 osteogenic sarcoma 10.3
12 roberts-sc phocomelia syndrome 10.3
13 autosomal recessive disease 10.3
14 hydrocephalus 10.3
15 pancytopenia 10.3
16 familial retinoblastoma 10.2 WRN RECQL4
17 craniosynostosis 1 10.2
18 nevus, epidermal 10.2
19 chromosome 2q35 duplication syndrome 10.2
20 vacterl association with hydrocephalus 10.2
21 polydactyly 10.2
22 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
23 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
24 mature t-cell and nk-cell lymphoma 10.2
25 hypospadias 10.2
26 microcephaly 10.2
27 hydronephrosis 10.2
28 myopia 10.2
29 ventricular septal defect 10.2
30 skin carcinoma 10.2
31 polyhydramnios 10.2
32 dextrocardia 10.2
33 pathologic nystagmus 10.2
34 esco2 spectrum disorder 10.2
35 polymicrogyria 10.2
36 congenital hydrocephalus 10.2
37 supernumerary breasts 10.2
38 isolated craniosynostosis 10.2
39 skin atrophy 10.1 WRN RECQL4
40 malignant ovarian cyst 10.1 RMI2 RMI1
41 ovarian mucinous cystadenocarcinoma 10.1 RMI2 RMI1
42 microcephaly, growth restriction, and increased sister chromatid exchange 2 10.1 TOP3A RMI2
43 radioulnar synostosis 10.1 TWIST1 RECQL4
44 adermatoglyphia 10.1 WRN BLM
45 schimke immunoosseous dysplasia 10.0 WRN MUS81
46 laryngoonychocutaneous syndrome 9.9
47 hemolytic-uremic syndrome 9.9
48 tic disorder 9.9
49 poliomyelitis 9.9
50 cataract 9.9

Graphical network of the top 20 diseases related to Baller-Gerold Syndrome:



Diseases related to Baller-Gerold Syndrome

Symptoms & Phenotypes for Baller-Gerold Syndrome

Human phenotypes related to Baller-Gerold Syndrome:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 failure to thrive in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001531
4 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
5 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
6 brachyturricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000244
7 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
8 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
9 hand oligodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001180
10 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
11 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
12 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
13 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
14 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
15 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
16 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
17 anteriorly placed anus 58 31 frequent (33%) Frequent (79-30%) HP:0001545
18 aplasia/hypoplasia of the patella 58 31 frequent (33%) Frequent (79-30%) HP:0006498
19 abnormality of the carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001191
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
21 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
22 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
23 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
24 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
25 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
26 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
27 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
28 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
29 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
30 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
31 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
32 urogenital fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100589
33 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
34 osteosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002669
35 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
36 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
37 narrow nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000446
38 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
39 abnormal localization of kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0100542
40 poikiloderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001029
41 intellectual disability 31 HP:0001249
42 agenesis of corpus callosum 31 HP:0001274
43 hydrocephalus 31 HP:0000238
44 abnormal vertebral morphology 31 HP:0003468
45 optic atrophy 31 HP:0000648
46 brachycephaly 58 Very frequent (99-80%)
47 strabismus 31 HP:0000486
48 growth delay 58 Very frequent (99-80%)
49 myopia 31 HP:0000545
50 downslanted palpebral fissures 31 HP:0000494

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
high palate
microstomia

Growth Height:
short stature

Head And Neck Ears:
low-set, posteriorly rotated ears
conductive hearing loss

Genitourinary External Genitalia Female:
rectovaginal fistula

Head And Neck Head:
turribrachycephaly

Neurologic Central Nervous System:
mental retardation

Genitourinary Kidneys:
renal anomalies

Skeletal Limbs:
absent or hypoplastic radii
short, curved ulna
fused carpal bones
absent carpals, metacarpals, and phalanges

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Head And Neck Face:
micrognathia
flattened forehead

Head And Neck Nose:
prominent nasal bridge

Abdomen External Features:
anteriorly placed anus
perineal fistula
imperforate anus

Skeletal Spine:
vertebral anomalies

Cardiovascular Heart:
congenital heart defects

Skeletal Skull:
craniosynostosis (coronal, metopic, lambdoidal)

Skeletal Hands:
absent or hypoplastic thumbs

Clinical features from OMIM®:

218600 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.5 BLM EXO1 MUS81
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 BLM DNA2 EXO1 FEN1 MUS81 RECQL

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 BLM CDC45 DDX11 DNA2 EXO1 FEN1
2 mortality/aging MP:0010768 9.77 BLM CDC45 DDX11 DNA2 EXO1 FEN1
3 embryo MP:0005380 9.76 BLM CDC45 DDX11 FEN1 MCM10 RECQL4
4 neoplasm MP:0002006 9.17 BLM DNA2 EXO1 FEN1 MUS81 RECQL4

Drugs & Therapeutics for Baller-Gerold Syndrome

Search Clinical Trials , NIH Clinical Center for Baller-Gerold Syndrome

Cochrane evidence based reviews: craniosynostosis radial aplasia syndrome

Genetic Tests for Baller-Gerold Syndrome

Genetic tests related to Baller-Gerold Syndrome:

# Genetic test Affiliating Genes
1 Baller-Gerold Syndrome 29 RECQL4

Anatomical Context for Baller-Gerold Syndrome

MalaCards organs/tissues related to Baller-Gerold Syndrome:

40
Skin, Eye, Kidney, Heart, Bone, Thymus, Breast

Publications for Baller-Gerold Syndrome

Articles related to Baller-Gerold Syndrome:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. 6 57 25 61 54
15964893 2006
2
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. 6 61 54 25
19291770 2009
3
Nationwide survey of Baller‑Gerold syndrome in Japanese population. 61 6 25
28358413 2017
4
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. 25 6 61
25966250 2015
5
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. 25 6 61
22885111 2012
6
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. 61 57 25
11045594 2000
7
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. 61 25 57
7957363 1994
8
The Baller-Gerold syndrome. 57 25 61
1583650 1992
9
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. 6 25
24635570 2015
10
The mutation spectrum in RECQL4 diseases. 6 25
18716613 2009
11
Nuclear import and retention domains in the amino terminus of RECQL4. 6 54 61
17250975 2007
12
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. 25 6
15897384 2005
13
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 25 6
12952869 2003
14
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. 6 25
12838562 2003
15
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 25 6
12734318 2003
16
Another TWIST on Baller-Gerold syndrome. 61 57 54
11754069 2001
17
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. 6 25
10319867 1999
18
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 57 61 54
9934984 1999
19
[Healing of a fracture in an unusual case of congenital anomaly of the upper extremities]. 25 57
13669699 1959
20
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder. 6 61
23899764 2013
21
Baller-Gerold syndrome after fetal exposure to sodium valproate. 61 57
15732083 2005
22
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. 57 61
8741921 1996
23
Is there a Baller-Gerold syndrome? 61 57
8741920 1996
24
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. 61 57
8160763 1994
25
Further delineation of the Baller-Gerold syndrome. 57 61
8465861 1993
26
Baller-Gerold syndrome: case report and clinical and radiological review. 61 57
1536180 1992
27
Baller-Gerold syndrome associated with congenital hydrocephalus. 57 61
1951434 1991
28
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. 61 57
2260585 1990
29
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). 61 57
2074565 1990
30
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. 57 61
2359099 1990
31
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. 57 61
7315870 1981
32
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. 61 57
7363501 1980
33
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. 61 57
517480 1979
34
Craniosynostosis--radial aplasia syndrome. 61 57
4820706 1974
35
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma. 6
31604778 2019
36
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. 6
30306255 2018
37
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome. 6
29462647 2018
38
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. 6
29642415 2018
39
Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells. 25 61
29080750 2018
40
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. 6
28486640 2017
41
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. 6
28039508 2017
42
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 6
27247962 2016
43
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. 6
24518840 2014
44
Rothmund-thomson syndrome: a 13-year follow-up. 6
25120469 2014
45
The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients. 6
23238538 2012
46
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. 6
21418107 2011
47
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. 6
21143835 2010
48
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. 6
20503338 2010
49
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. 6
18504617 2008
50
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. 61 25
15789214 2006

Variations for Baller-Gerold Syndrome

ClinVar genetic disease variations for Baller-Gerold Syndrome:

6 (show top 50) (show all 2093)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RECQL4 NM_004260.3(RECQL4):c.3061C>T (p.Arg1021Trp) SNV Pathogenic 6073 rs137853232 GRCh37: 8:145737702-145737702
GRCh38: 8:144512319-144512319
2 RECQL4 NM_004260.3(RECQL4):c.2379_2380dup (p.Ser794fs) Duplication Pathogenic 239722 rs878854645 GRCh37: 8:145738683-145738684
GRCh38: 8:144513300-144513301
3 RECQL4 NM_004260.3(RECQL4):c.1816G>T (p.Glu606Ter) SNV Pathogenic 239708 rs878854644 GRCh37: 8:145739635-145739635
GRCh38: 8:144514251-144514251
4 RECQL4 NM_004260.3(RECQL4):c.1015del (p.Leu339fs) Deletion Pathogenic 407030 rs1060501384 GRCh37: 8:145741488-145741488
GRCh38: 8:144516104-144516104
5 RECQL4 NM_004260.3(RECQL4):c.805del (p.Trp269fs) Deletion Pathogenic 406956 rs1060501370 GRCh37: 8:145741698-145741698
GRCh38: 8:144516314-144516314
6 RECQL4 NM_004260.3(RECQL4):c.1131_1131+3del Deletion Pathogenic 406879 rs1060501353 GRCh37: 8:145741369-145741372
GRCh38: 8:144515985-144515988
7 RECQL4 NM_004260.3(RECQL4):c.1048_1049del (p.Arg350fs) Deletion Pathogenic 197759 rs746636748 GRCh37: 8:145741454-145741455
GRCh38: 8:144516070-144516071
8 RECQL4 NM_004260.3(RECQL4):c.2492_2493del (p.His831fs) Deletion Pathogenic 6064 rs752729755 GRCh37: 8:145738492-145738493
GRCh38: 8:144513109-144513110
9 RECQL4 NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) SNV Pathogenic 56406 rs386833851 GRCh37: 8:145738509-145738509
GRCh38: 8:144513126-144513126
10 RECQL4 NM_004260.3(RECQL4):c.871del (p.Ala291fs) Deletion Pathogenic 459525 rs1389647533 GRCh37: 8:145741632-145741632
GRCh38: 8:144516248-144516248
11 RECQL4 NM_004260.3(RECQL4):c.143_144del (p.Leu48fs) Deletion Pathogenic 459326 rs1554904773 GRCh37: 8:145742867-145742868
GRCh38: 8:144517483-144517484
12 RECQL4 NM_004260.3(RECQL4):c.925C>T (p.Gln309Ter) SNV Pathogenic 459529 rs1554902528 GRCh37: 8:145741578-145741578
GRCh38: 8:144516194-144516194
13 RECQL4 NM_004260.3(RECQL4):c.194_200del (p.Leu65fs) Deletion Pathogenic 459359 rs1554904685 GRCh37: 8:145742811-145742817
GRCh38: 8:144517427-144517433
14 RECQL4 NM_004260.3(RECQL4):c.2590C>T (p.Gln864Ter) SNV Pathogenic 528954 rs1054186954 GRCh37: 8:145738395-145738395
GRCh38: 8:144513012-144513012
15 RECQL4 NM_004260.3(RECQL4):c.2085del (p.Lys695fs) Deletion Pathogenic 528955 rs1457411812 GRCh37: 8:145739070-145739070
GRCh38: 8:144513686-144513686
16 RECQL4 NM_004260.3(RECQL4):c.1960C>T (p.Gln654Ter) SNV Pathogenic 528982 rs552960344 GRCh37: 8:145739410-145739410
GRCh38: 8:144514026-144514026
17 RECQL4 NM_004260.3(RECQL4):c.1838G>A (p.Trp613Ter) SNV Pathogenic 528983 rs1554899720 GRCh37: 8:145739613-145739613
GRCh38: 8:144514229-144514229
18 RECQL4 NM_004260.3(RECQL4):c.1236G>A (p.Trp412Ter) SNV Pathogenic 528932 rs1554901674 GRCh37: 8:145741170-145741170
GRCh38: 8:144515786-144515786
19 RECQL4 NM_004260.3(RECQL4):c.1834C>T (p.Gln612Ter) SNV Pathogenic 528933 rs1554899728 GRCh37: 8:145739617-145739617
GRCh38: 8:144514233-144514233
20 RECQL4 NM_004260.3(RECQL4):c.3277del (p.Asp1093fs) Deletion Pathogenic 528978 rs1356876749 GRCh37: 8:145737410-145737410
GRCh38: 8:144512027-144512027
21 RECQL4 NM_004260.3(RECQL4):c.3148C>T (p.Gln1050Ter) SNV Pathogenic 529008 rs1554896691 GRCh37: 8:145737615-145737615
GRCh38: 8:144512232-144512232
22 RECQL4 NM_004260.3(RECQL4):c.1699C>T (p.Gln567Ter) SNV Pathogenic 568068 rs770709355 GRCh37: 8:145739831-145739831
GRCh38: 8:144514447-144514447
23 RECQL4 NM_004260.3(RECQL4):c.1203del (p.Glu401fs) Deletion Pathogenic 565331 rs1220902289 GRCh37: 8:145741203-145741203
GRCh38: 8:144515819-144515819
24 RECQL4 NM_004260.3(RECQL4):c.674_675insT (p.Ala226fs) Insertion Pathogenic 566483 rs1564807584 GRCh37: 8:145741828-145741829
GRCh38: 8:144516444-144516445
25 RECQL4 NM_004260.3(RECQL4):c.2869C>T (p.Gln957Ter) SNV Pathogenic 566972 rs368081792 GRCh37: 8:145738041-145738041
GRCh38: 8:144512658-144512658
26 RECQL4 NM_004260.3(RECQL4):c.641C>A (p.Ser214Ter) SNV Pathogenic 571451 rs1317950691 GRCh37: 8:145741862-145741862
GRCh38: 8:144516478-144516478
27 RECQL4 NM_004260.3(RECQL4):c.2161C>T (p.Arg721Ter) SNV Pathogenic 572305 rs746691436 GRCh37: 8:145738994-145738994
GRCh38: 8:144513610-144513610
28 RECQL4 NM_004260.3(RECQL4):c.1400del (p.Ala467fs) Deletion Pathogenic 574681 rs1564802464 GRCh37: 8:145740617-145740617
GRCh38: 8:144515233-144515233
29 RECQL4 NM_004260.3(RECQL4):c.574C>T (p.Gln192Ter) SNV Pathogenic 573617 rs1564808132 GRCh37: 8:145741929-145741929
GRCh38: 8:144516545-144516545
30 RECQL4 NM_004260.3(RECQL4):c.1770_1807del (p.Pro591fs) Deletion Pathogenic 575425 rs780542343 GRCh37: 8:145739644-145739681
GRCh38: 8:144514260-144514297
31 RECQL4 NM_004260.3(RECQL4):c.318del (p.Gln107fs) Deletion Pathogenic 576993 rs775439596 GRCh37: 8:145742470-145742470
GRCh38: 8:144517086-144517086
32 RECQL4 NM_004260.3(RECQL4):c.2464-1G>A SNV Pathogenic 577322 rs398124117 GRCh37: 8:145738522-145738522
GRCh38: 8:144513139-144513139
33 RECQL4 NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs) Indel Pathogenic 577898 rs1564804342 GRCh37: 8:145741234-145741235
GRCh38: 8:144515850-144515851
34 RECQL4 NM_004260.3(RECQL4):c.1223_1224insT (p.Gln408fs) Insertion Pathogenic 640388 rs1586819343 GRCh37: 8:145741182-145741183
GRCh38: 8:144515798-144515799
35 RECQL4 NM_004260.3(RECQL4):c.910C>T (p.Gln304Ter) SNV Pathogenic 641783 rs934534826 GRCh37: 8:145741593-145741593
GRCh38: 8:144516209-144516209
36 RECQL4 NM_004260.3(RECQL4):c.315C>G (p.Tyr105Ter) SNV Pathogenic 643471 rs766643335 GRCh37: 8:145742473-145742473
GRCh38: 8:144517089-144517089
37 RECQL4 NM_004260.3(RECQL4):c.3139_3140GA[1] (p.Lys1048fs) Microsatellite Pathogenic 649113 rs773765879 GRCh37: 8:145737621-145737622
GRCh38: 8:144512238-144512239
38 RECQL4 NM_004260.3(RECQL4):c.642_643AG[1] (p.Glu215fs) Microsatellite Pathogenic 649166 rs1586824938 GRCh37: 8:145741858-145741859
GRCh38: 8:144516474-144516475
39 RECQL4 NM_004260.3(RECQL4):c.1390+2del Deletion Pathogenic 56398 rs386833843 GRCh37: 8:145740708-145740708
GRCh38: 8:144515324-144515324
40 RECQL4 NM_004260.3(RECQL4):c.2410_2414CGGGC[3] (p.Arg807fs) Microsatellite Pathogenic 641449 rs1564794448 GRCh37: 8:145738644-145738645
GRCh38: 8:144513261-144513262
41 RECQL4 NM_004260.3(RECQL4):c.3280G>T (p.Glu1094Ter) SNV Pathogenic 657236 rs1586791537 GRCh37: 8:145737407-145737407
GRCh38: 8:144512024-144512024
42 RECQL4 NM_004260.3(RECQL4):c.3006_3007TG[1] (p.Val1003fs) Microsatellite Pathogenic 657598 rs1586795055 GRCh37: 8:145737821-145737822
GRCh38: 8:144512438-144512439
43 RECQL4 NM_004260.3(RECQL4):c.1051_1052del (p.Gly351fs) Deletion Pathogenic 658938 rs1586821509 GRCh37: 8:145741451-145741452
GRCh38: 8:144516067-144516068
44 RECQL4 NM_004260.3(RECQL4):c.690_709del (p.Gly231fs) Deletion Pathogenic 661531 rs1586824430 GRCh37: 8:145741794-145741813
GRCh38: 8:144516410-144516429
45 RECQL4 NC_000008.11:g.(?_144514926)_(144517794_?)del Deletion Pathogenic 831322 GRCh37: 8:145740310-145743178
GRCh38:
46 RECQL4 NM_004260.3(RECQL4):c.2059-1G>A SNV Pathogenic 56404 rs386833849 GRCh37: 8:145739097-145739097
GRCh38: 8:144513713-144513713
47 RECQL4 NM_004260.3(RECQL4):c.1717C>T (p.Gln573Ter) SNV Pathogenic 620609 rs1483085748 GRCh37: 8:145739734-145739734
GRCh38: 8:144514350-144514350
48 RECQL4 NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter) SNV Pathogenic 6072 rs137853231 GRCh37: 8:145741697-145741697
GRCh38: 8:144516313-144516313
49 RECQL4 NM_004260.3(RECQL4):c.3025C>T (p.Gln1009Ter) SNV Pathogenic 593151 rs1564790457 GRCh37: 8:145737805-145737805
GRCh38: 8:144512422-144512422
50 RECQL4 NM_004260.4(RECQL4):c.686del (p.Gly229fs) Deletion Pathogenic 641082 rs1586824650 GRCh37: 8:145741817-145741817
GRCh38: 8:144516433-144516433

UniProtKB/Swiss-Prot genetic disease variations for Baller-Gerold Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 RECQL4 p.Arg1021Trp VAR_026591 rs137853232

Expression for Baller-Gerold Syndrome

Search GEO for disease gene expression data for Baller-Gerold Syndrome.

Pathways for Baller-Gerold Syndrome

Pathways related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 WRN TOP3A RMI2 RMI1 MCM10 FEN1
2
Show member pathways
13.02 WRN TOP3A RMI2 RMI1 MUS81 FEN1
3
Show member pathways
12.8 WRN TOP3A RMI2 RMI1 EXO1 DNA2
4
Show member pathways
12.38 WRN TOP3A RMI2 RMI1 MCM10 EXO1
5 12.27 WRN RECQL5 RECQL4 RECQL FEN1 CDC45
6
Show member pathways
11.85 WRN TOP3A RMI2 RMI1 MUS81 EXO1
7 11.77 TOP3A RMI2 RMI1 MUS81 BLM
8
Show member pathways
11.4 WRN TOP3A RMI2 RMI1 MUS81 EXO1
9 10.84 WRN FEN1

GO Terms for Baller-Gerold Syndrome

Cellular components related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.86 WRN TWIST1 TOP3A RMI2 RMI1 RECQL5
2 nucleolus GO:0005730 9.8 WRN MUS81 MCM10 FEN1 DDX11 BLM
3 chromosome GO:0005694 9.7 WRN TOP3A RECQL5 RECQL4 RECQL DDX11
4 chromosome, telomeric region GO:0000781 9.65 WRN RECQL4 FEN1 DNA2 BLM
5 nucleoplasm GO:0005654 9.5 WRN TWIST1 TOP3A RMI2 RMI1 RECQL5
6 replication fork GO:0005657 9.37 WRN BLM

Biological processes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.09 WRN RECQL5 MUS81 MCM10 FEN1 EXO1
2 regulation of signal transduction by p53 class mediator GO:1901796 9.95 WRN TOP3A RMI2 RMI1 EXO1 DNA2
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.89 WRN MUS81 FEN1 EXO1 DNA2
4 DNA recombination GO:0006310 9.87 WRN RECQL5 RECQL4 RECQL MUS81 EXO1
5 telomere maintenance GO:0000723 9.83 WRN RECQL4 DNA2 BLM
6 DNA duplex unwinding GO:0032508 9.8 WRN RECQL5 RECQL4 RECQL DNA2 DDX11
7 t-circle formation GO:0090656 9.78 WRN EXO1 DNA2 BLM
8 DNA unwinding involved in DNA replication GO:0006268 9.77 WRN RECQL5 RECQL4 RECQL BLM
9 G-quadruplex DNA unwinding GO:0044806 9.76 WRN DNA2 DDX11 BLM
10 replication fork processing GO:0031297 9.73 WRN DDX11 BLM
11 base-excision repair GO:0006284 9.72 WRN FEN1 DNA2
12 telomeric D-loop disassembly GO:0061820 9.71 WRN RECQL4 BLM
13 double-strand break repair via homologous recombination GO:0000724 9.7 WRN RMI1 RECQL5 RECQL4 RECQL FEN1
14 DNA repair GO:0006281 9.7 WRN RMI2 RECQL5 RECQL4 RECQL MUS81
15 DNA strand renaturation GO:0000733 9.69 RECQL4 RECQL BLM
16 DNA replication initiation GO:0006270 9.65 MCM10 CDC45
17 DNA metabolic process GO:0006259 9.64 WRN RECQL5
18 telomere maintenance via semi-conservative replication GO:0032201 9.64 FEN1 DNA2
19 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.63 RMI2 RECQL5
20 resolution of meiotic recombination intermediates GO:0000712 9.63 RMI1 MUS81
21 DNA double-strand break processing GO:0000729 9.62 DNA2 BLM
22 cellular metabolic process GO:0044237 9.62 WRN BLM
23 cellular response to hydroxyurea GO:0072711 9.61 DDX11 BLM
24 double-strand break repair via break-induced replication GO:0000727 9.61 MUS81 CDC45
25 DNA replication checkpoint GO:0000076 9.6 DNA2 CDC45
26 chromosome separation GO:0051304 9.59 TOP3A RECQL5
27 cellular response to camptothecin GO:0072757 9.58 RECQL5 BLM
28 positive regulation of sister chromatid cohesion GO:0045876 9.58 FEN1 DDX11
29 DNA replication, removal of RNA primer GO:0043137 9.57 FEN1 DNA2
30 DNA replication GO:0006260 9.44 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4

Molecular functions related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.55 WRN TWIST1 TOP3A RMI2 RMI1 RECQL5
2 metal ion binding GO:0046872 10.31 WRN TOP3A MUS81 MCM10 FEN1 EXO1
3 nucleotide binding GO:0000166 10.21 WRN RMI1 RECQL5 RECQL4 RECQL DNA2
4 ATP binding GO:0005524 10.17 WRN RECQL5 RECQL4 RECQL DNA2 DDX11
5 hydrolase activity GO:0016787 10.13 WRN RECQL5 RECQL4 RECQL MUS81 FEN1
6 nucleic acid binding GO:0003676 10.12 WRN TOP3A RECQL5 RECQL4 RECQL DDX11
7 DNA binding GO:0003677 10.1 WRN TWIST1 TOP3A RMI2 RECQL MUS81
8 catalytic activity GO:0003824 10.02 WRN FEN1 EXO1 DNA2 BLM
9 chromatin binding GO:0003682 9.96 WRN EXO1 DDX11 CDC45
10 nuclease activity GO:0004518 9.88 WRN MUS81 FEN1 EXO1 DNA2
11 endonuclease activity GO:0004519 9.84 MUS81 FEN1 EXO1 DNA2
12 double-stranded DNA binding GO:0003690 9.83 MCM10 FEN1 DDX11
13 single-stranded DNA binding GO:0003697 9.8 TOP3A MCM10 DDX11 CDC45 BLM
14 helicase activity GO:0004386 9.8 WRN RECQL5 RECQL4 RECQL DNA2 DDX11
15 exonuclease activity GO:0004527 9.79 WRN FEN1 EXO1
16 DNA replication origin binding GO:0003688 9.72 MCM10 DDX11 CDC45
17 G-quadruplex DNA binding GO:0051880 9.7 WRN DDX11 BLM
18 5'-flap endonuclease activity GO:0017108 9.69 FEN1 EXO1 DNA2
19 bubble DNA binding GO:0000405 9.67 WRN RECQL4 BLM
20 hydrolase activity, acting on ester bonds GO:0016788 9.66 FEN1 EXO1
21 four-way junction DNA binding GO:0000400 9.65 WRN BLM
22 5'-3' exonuclease activity GO:0008409 9.64 FEN1 EXO1
23 RNA-DNA hybrid ribonuclease activity GO:0004523 9.63 FEN1 EXO1
24 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.63 DDX11 BLM
25 annealing helicase activity GO:0036310 9.63 RECQL4 RECQL BLM
26 Y-form DNA binding GO:0000403 9.6 WRN BLM
27 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.59 WRN BLM
28 telomeric G-quadruplex DNA binding GO:0061849 9.58 WRN BLM
29 forked DNA-dependent helicase activity GO:0061749 9.57 WRN BLM
30 flap endonuclease activity GO:0048256 9.56 FEN1 EXO1
31 3'-5' DNA helicase activity GO:0043138 9.55 WRN RECQL5 RECQL4 RECQL BLM
32 telomeric D-loop binding GO:0061821 9.54 WRN RECQL4 BLM
33 DNA helicase activity GO:0003678 9.5 WRN RECQL5 RECQL4 RECQL DNA2 DDX11
34 four-way junction helicase activity GO:0009378 9.02 WRN RECQL5 RECQL4 RECQL BLM

Sources for Baller-Gerold Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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