BGS
MCID: BLL001
MIFTS: 60

Baller-Gerold Syndrome (BGS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Baller-Gerold Syndrome

MalaCards integrated aliases for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 57 11 24 19 42 58 73 28 12 53 5 14 38 71 75
Craniosynostosis-Radial Aplasia Syndrome 57 19 42 73
Craniosynostosis with Radial Defects 57 19 42 73
Bgs 57 19 42 73
Craniosynostosis Radial Aplasia Syndrome 43

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Baller-Gerold Syndrome

MedlinePlus Genetics: 42 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 roberts-sc phocomelia syndrome and inherited cancer-predisposing syndrome. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Gene expression (Transcription) and Disease. Affiliated tissues include bone, skin and eye, and related phenotypes are frontal bossing and short stature

GARD: 19 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. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene.

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Orphanet: 58 Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

Disease Ontology: 11 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

Wikipedia: 75 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 89)
# Related Disease Score Top Affiliating Genes
1 roberts-sc phocomelia syndrome 30.2 ESCO2 ERCC6 DDX11
2 inherited cancer-predisposing syndrome 30.0 RECQL4 BRIP1 BLM
3 rothmund-thomson syndrome, type 2 29.9 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
4 bap1 tumor predisposition syndrome 29.9 RECQL4 BRIP1 BLM
5 rapadilino syndrome 29.7 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
6 microcephaly 28.0 TWIST1 TOP3A ESCO2 ERCC6 DNA2 DDX11
7 aplastic anemia 27.6 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
8 fanconi anemia, complementation group a 27.3 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
9 craniosynostosis 10.9
10 anus, imperforate 10.5
11 deficiency anemia 10.5
12 vater/vacterl association 10.4
13 c syndrome 10.4
14 synostosis 10.4
15 vacterl association 10.4
16 phocomelia 10.4
17 saethre-chotzen syndrome 10.3
18 craniosynostosis 1 10.3
19 osteogenic sarcoma 10.3
20 hydrocephalus 10.3
21 pancytopenia 10.3
22 xfe progeroid syndrome 10.2 WRN ERCC6
23 pfeiffer syndrome 10.2
24 holt-oram syndrome 10.2
25 nevus, epidermal 10.2
26 nipples, supernumerary 10.2
27 polydactyly, postaxial, type a1 10.2
28 chromosome 2q35 duplication syndrome 10.2
29 vacterl association with hydrocephalus 10.2
30 spondylocostal dysostosis 1, autosomal recessive 10.2
31 sacral defect with anterior meningocele 10.2
32 muenke syndrome 10.2
33 polydactyly 10.2
34 mature t-cell and nk-cell lymphoma 10.2
35 nasal type extranodal nk/t-cell lymphoma 10.2
36 polymicrogyria 10.2
37 hypospadias 10.2
38 hydronephrosis 10.2
39 myopia 10.2
40 ventricular septal defect 10.2
41 skin carcinoma 10.2
42 polyhydramnios 10.2
43 dextrocardia 10.2
44 pathologic nystagmus 10.2
45 esco2 spectrum disorder 10.2
46 congenital hydrocephalus 10.2
47 supernumerary breasts 10.2
48 non-syndromic craniosynostosis 10.2
49 schimke immunoosseous dysplasia 10.2 WRN RECQL
50 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 ERCC6 BLM

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 30 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
3 failure to thrive in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001531
4 proptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000520
5 large fontanelles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000239
6 brachyturricephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000244
7 aplasia/hypoplasia of the thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009601
8 aplasia/hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006501
9 hand oligodactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001180
10 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
11 bowing of the long bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0006487
12 malabsorption 58 30 Frequent (33%) Frequent (79-30%)
HP:0002024
13 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
14 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
15 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000160
16 anteriorly placed anus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001545
17 aplasia/hypoplasia of the patella 58 30 Frequent (33%) Frequent (79-30%)
HP:0006498
18 abnormal metacarpal morphology 30 Frequent (33%) HP:0005916
19 abnormal carpal morphology 30 Frequent (33%) HP:0001191
20 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
21 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
22 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
23 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
24 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
25 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
26 narrow face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000275
27 conductive hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000405
28 anal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002023
29 abnormal cardiac septum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001671
30 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
31 hydronephrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000126
32 urogenital fistula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100589
33 lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002665
34 osteosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002669
35 prominent nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000426
36 broad forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000337
37 narrow nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000446
38 hypotelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000601
39 abnormal localization of kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100542
40 poikiloderma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001029
41 intellectual disability 30 HP:0001249
42 seizure 30 HP:0001250
43 agenesis of corpus callosum 30 HP:0001274
44 hydrocephalus 30 HP:0000238
45 abnormal vertebral morphology 30 HP:0003468
46 optic atrophy 30 HP:0000648
47 brachycephaly 58 Very frequent (99-80%)
48 strabismus 30 HP:0000486
49 growth delay 58 Very frequent (99-80%)
50 myopia 30 HP:0000545

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.5 BLM BRIP1 ERCC6
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 BLM DNA2 ERCC6 FEN1 RECQL RECQL4

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.83 BLM BRIP1 CDC45 DDX11 DNA2 ERCC6
2 embryo MP:0005380 9.81 BLM CDC45 DDX11 ESCO2 FEN1 MCM10
3 neoplasm MP:0002006 9.8 BLM BRIP1 DNA2 ERCC6 FEN1 RECQL4
4 mortality/aging MP:0010768 9.44 BLM CDC45 DDX11 DNA2 ERCC6 ESCO2

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 28 RECQL4

Anatomical Context for Baller-Gerold Syndrome

Organs/tissues related to Baller-Gerold Syndrome:

MalaCards : Bone, Skin, Eye, Kidney, Heart, Thymus, Breast

Publications for Baller-Gerold Syndrome

Articles related to Baller-Gerold Syndrome:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. 53 62 24 57 5
15964893 2006
2
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. 53 62 24 5
19291770 2009
3
Nationwide survey of Baller‑Gerold syndrome in Japanese population. 62 24 5
28358413 2017
4
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. 62 24 5
25966250 2015
5
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. 62 24 5
22885111 2012
6
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. 62 24 57
11045594 2000
7
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. 62 24 57
7957363 1994
8
The Baller-Gerold syndrome. 62 24 57
1583650 1992
9
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. 24 5
24635570 2015
10
The mutation spectrum in RECQL4 diseases. 24 5
18716613 2009
11
Nuclear import and retention domains in the amino terminus of RECQL4. 53 62 5
17250975 2007
12
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. 24 5
15897384 2005
13
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 24 5
12952869 2003
14
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. 24 5
12838562 2003
15
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 24 5
12734318 2003
16
Another TWIST on Baller-Gerold syndrome. 53 62 57
11754069 2001
17
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. 24 5
10319867 1999
18
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 53 62 57
9934984 1999
19
[Healing of a fracture in an unusual case of congenital anomaly of the upper extremities]. 24 57
13669699 1959
20
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder. 62 5
23899764 2013
21
Baller-Gerold syndrome after fetal exposure to sodium valproate. 62 57
15732083 2005
22
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. 62 57
8741921 1996
23
Is there a Baller-Gerold syndrome? 62 57
8741920 1996
24
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. 62 57
8160763 1994
25
Further delineation of the Baller-Gerold syndrome. 62 57
8465861 1993
26
Baller-Gerold syndrome: case report and clinical and radiological review. 62 57
1536180 1992
27
Baller-Gerold syndrome associated with congenital hydrocephalus. 62 57
1951434 1991
28
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. 62 57
2260585 1990
29
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). 62 57
2074565 1990
30
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. 62 57
2359099 1990
31
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. 62 57
7315870 1981
32
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. 62 57
7363501 1980
33
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. 62 57
517480 1979
34
Craniosynostosis--radial aplasia syndrome. 62 57
4820706 1974
35
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma. 5
31604778 2019
36
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. 5
30306255 2018
37
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome. 5
29462647 2018
38
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. 5
29642415 2018
39
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation. 5
29367366 2018
40
Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells. 62 24
29080750 2018
41
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. 5
28486640 2017
42
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. 5
28039508 2017
43
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 5
27247962 2016
44
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
45
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. 5
24518840 2014
46
Rothmund-thomson syndrome: a 13-year follow-up. 5
25120469 2014
47
The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients. 5
23238538 2012
48
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. 5
21418107 2011
49
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. 5
21143835 2010
50
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. 5
20503338 2010

Variations for Baller-Gerold Syndrome

ClinVar genetic disease variations for Baller-Gerold Syndrome:

5 (show top 50) (show all 3505)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RECQL4 NM_004260.4(RECQL4):c.1015del (p.Leu339fs) DEL Pathogenic
407030 rs1060501384 GRCh37: 8:145741488-145741488
GRCh38: 8:144516104-144516104
2 RECQL4 NM_004260.4(RECQL4):c.805del (p.Trp269fs) DEL Pathogenic
406956 rs1060501370 GRCh37: 8:145741698-145741698
GRCh38: 8:144516314-144516314
3 RECQL4 NM_004260.4(RECQL4):c.2464-1G>C SNV Pathogenic
94889 rs398124117 GRCh37: 8:145738522-145738522
GRCh38: 8:144513139-144513139
4 RECQL4 NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) INDEL Pathogenic
Pathogenic
407029 rs1060501383 GRCh37: 8:145740367-145740372
GRCh38: 8:144514983-144514988
5 RECQL4 NM_004260.4(RECQL4):c.2379_2380dup (p.Ser794fs) DUP Pathogenic
239722 rs878854645 GRCh37: 8:145738683-145738684
GRCh38: 8:144513300-144513301
6 RECQL4 NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter) SNV Pathogenic
239708 rs878854644 GRCh37: 8:145739635-145739635
GRCh38: 8:144514251-144514251
7 RECQL4 NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) MICROSAT Pathogenic
406969 rs778141083 GRCh37: 8:145738437-145738438
GRCh38: 8:144513054-144513055
8 RECQL4 NM_004260.4(RECQL4):c.871del (p.Ala291fs) DEL Pathogenic
459525 rs1389647533 GRCh37: 8:145741632-145741632
GRCh38: 8:144516248-144516248
9 RECQL4 NM_004260.4(RECQL4):c.143_144del (p.Leu48fs) DEL Pathogenic
459326 rs1554904773 GRCh37: 8:145742867-145742868
GRCh38: 8:144517483-144517484
10 RECQL4 NM_004260.4(RECQL4):c.194_200del (p.Leu65fs) DEL Pathogenic
459359 rs1554904685 GRCh37: 8:145742811-145742817
GRCh38: 8:144517427-144517433
11 RECQL4 NM_004260.4(RECQL4):c.925C>T (p.Gln309Ter) SNV Pathogenic
459529 rs1554902528 GRCh37: 8:145741578-145741578
GRCh38: 8:144516194-144516194
12 RECQL4 NM_004260.4(RECQL4):c.2590C>T (p.Gln864Ter) SNV Pathogenic
528954 rs1054186954 GRCh37: 8:145738395-145738395
GRCh38: 8:144513012-144513012
13 RECQL4 NM_004260.4(RECQL4):c.2085del (p.Lys695fs) DEL Pathogenic
528955 rs1457411812 GRCh37: 8:145739070-145739070
GRCh38: 8:144513686-144513686
14 RECQL4 NM_004260.4(RECQL4):c.1960C>T (p.Gln654Ter) SNV Pathogenic
528982 rs552960344 GRCh37: 8:145739410-145739410
GRCh38: 8:144514026-144514026
15 RECQL4 NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter) SNV Pathogenic
528983 rs1554899720 GRCh37: 8:145739613-145739613
GRCh38: 8:144514229-144514229
16 RECQL4 NM_004260.4(RECQL4):c.3148C>T (p.Gln1050Ter) SNV Pathogenic
529008 rs1554896691 GRCh37: 8:145737615-145737615
GRCh38: 8:144512232-144512232
17 RECQL4 NM_004260.4(RECQL4):c.1236G>A (p.Trp412Ter) SNV Pathogenic
528932 rs1554901674 GRCh37: 8:145741170-145741170
GRCh38: 8:144515786-144515786
18 RECQL4 NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter) SNV Pathogenic
528933 rs1554899728 GRCh37: 8:145739617-145739617
GRCh38: 8:144514233-144514233
19 RECQL4 NM_004260.4(RECQL4):c.1203del (p.Glu401fs) DEL Pathogenic
565331 rs1220902289 GRCh37: 8:145741203-145741203
GRCh38: 8:144515819-144515819
20 RECQL4 NM_004260.4(RECQL4):c.3277del (p.Asp1093fs) DEL Pathogenic
528978 rs1356876749 GRCh37: 8:145737410-145737410
GRCh38: 8:144512027-144512027
21 RECQL4 NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs) INSERT Pathogenic
566483 rs1564807584 GRCh37: 8:145741828-145741829
GRCh38: 8:144516444-144516445
22 RECQL4 NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) SNV Pathogenic
568068 rs770709355 GRCh37: 8:145739831-145739831
GRCh38: 8:144514447-144514447
23 RECQL4 NM_004260.4(RECQL4):c.641C>A (p.Ser214Ter) SNV Pathogenic
571451 rs1317950691 GRCh37: 8:145741862-145741862
GRCh38: 8:144516478-144516478
24 RECQL4 NM_004260.4(RECQL4):c.752del (p.Ser251fs) DEL Pathogenic
423196 rs1064796290 GRCh37: 8:145741751-145741751
GRCh38: 8:144516367-144516367
25 RECQL4 NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter) SNV Pathogenic
573617 rs1564808132 GRCh37: 8:145741929-145741929
GRCh38: 8:144516545-144516545
26 RECQL4 NM_004260.4(RECQL4):c.1400del (p.Ala467fs) DEL Pathogenic
574681 rs1564802464 GRCh37: 8:145740617-145740617
GRCh38: 8:144515233-144515233
27 RECQL4 NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs) DEL Pathogenic
575425 rs780542343 GRCh37: 8:145739644-145739681
GRCh38: 8:144514260-144514297
28 RECQL4 NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs) INDEL Pathogenic
577898 rs1564804342 GRCh37: 8:145741234-145741235
GRCh38: 8:144515850-144515851
29 RECQL4 NM_004260.4(RECQL4):c.318del (p.Gln107fs) DEL Pathogenic
576993 rs775439596 GRCh37: 8:145742470-145742470
GRCh38: 8:144517086-144517086
30 RECQL4 NM_004260.4(RECQL4):c.2464-1G>A SNV Pathogenic
577322 rs398124117 GRCh37: 8:145738522-145738522
GRCh38: 8:144513139-144513139
31 RECQL4 NM_004260.4(RECQL4):c.686del (p.Gly229fs) DEL Pathogenic
641082 rs1586824650 GRCh37: 8:145741817-145741817
GRCh38: 8:144516433-144516433
32 RECQL4 NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter) SNV Pathogenic
641783 rs934534826 GRCh37: 8:145741593-145741593
GRCh38: 8:144516209-144516209
33 RECQL4 NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter) SNV Pathogenic
643471 rs766643335 GRCh37: 8:145742473-145742473
GRCh38: 8:144517089-144517089
34 RECQL4 NM_004260.4(RECQL4):c.3141_3142del (p.Lys1048fs) MICROSAT Pathogenic
649113 rs773765879 GRCh37: 8:145737621-145737622
GRCh38: 8:144512238-144512239
35 RECQL4 NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) MICROSAT Pathogenic
649166 rs1586824938 GRCh37: 8:145741858-145741859
GRCh38: 8:144516474-144516475
36 RECQL4 NM_004260.4(RECQL4):c.2636dup (p.Gln880fs) DUP Pathogenic
651496 rs1215700016 GRCh37: 8:145738348-145738349
GRCh38: 8:144512965-144512966
37 RECQL4 NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs) INSERT Pathogenic
640388 rs1586819343 GRCh37: 8:145741182-145741183
GRCh38: 8:144515798-144515799
38 RECQL4 NM_004260.4(RECQL4):c.3280G>T (p.Glu1094Ter) SNV Pathogenic
657236 rs1586791537 GRCh37: 8:145737407-145737407
GRCh38: 8:144512024-144512024
39 RECQL4 NM_004260.4(RECQL4):c.3008_3009del (p.Val1003fs) MICROSAT Pathogenic
657598 rs1586795055 GRCh37: 8:145737821-145737822
GRCh38: 8:144512438-144512439
40 RECQL4 NM_004260.4(RECQL4):c.1391-1G>A SNV Pathogenic
6067 rs117642173 GRCh37: 8:145740627-145740627
GRCh38: 8:144515243-144515243
41 RECQL4 NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs) DEL Pathogenic
658938 rs1586821509 GRCh37: 8:145741451-145741452
GRCh38: 8:144516067-144516068
42 RECQL4 NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) SNV Pathogenic
666165 rs1406641581 GRCh37: 8:145738323-145738323
GRCh38: 8:144512940-144512940
43 RECQL4 NM_004260.4(RECQL4):c.3433C>T (p.Gln1145Ter) SNV Pathogenic
837971 rs1827248750 GRCh37: 8:145737133-145737133
GRCh38: 8:144511750-144511750
44 RECQL4 NM_004260.4(RECQL4):c.2415_2419del (p.Ala805_Gly806insTer) MICROSAT Pathogenic
843639 rs1564794448 GRCh37: 8:145738645-145738649
GRCh38: 8:144513262-144513266
45 RECQL4 NM_004260.4(RECQL4):c.1137G>A (p.Trp379Ter) SNV Pathogenic
843640 rs1360427319 GRCh37: 8:145741269-145741269
GRCh38: 8:144515885-144515885
46 RECQL4 NM_004260.4(RECQL4):c.2539C>T (p.Gln847Ter) SNV Pathogenic
843922 rs1827556397 GRCh37: 8:145738446-145738446
GRCh38: 8:144513063-144513063
47 RECQL4 NM_004260.4(RECQL4):c.1409dup (p.Gln471fs) DUP Pathogenic
845205 rs1827984994 GRCh37: 8:145740607-145740608
GRCh38: 8:144515223-144515224
48 RECQL4 NM_004260.4(RECQL4):c.854del (p.Pro285fs) DEL Pathogenic
846137 rs1292831710 GRCh37: 8:145741649-145741649
GRCh38: 8:144516265-144516265
49 RECQL4 NM_004260.4(RECQL4):c.187_196del (p.Glu63fs) DEL Pathogenic
847782 rs1815344712 GRCh37: 8:145742815-145742824
GRCh38: 8:144517431-144517440
50 RECQL4 NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter) SNV Pathogenic
489031 rs758790200 GRCh37: 8:145738793-145738793
GRCh38: 8:144513409-144513409

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

73
# 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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 WRN TWIST1 TOP3A RMI2 RMI1 ERCC6
2
Show member pathways
13.56 WRN TOP3A RMI2 RMI1 FEN1 DNA2
3
Show member pathways
13.28 WRN TOP3A RMI2 RMI1 MCM10 FEN1
4
Show member pathways
13.02 BLM BRIP1 DNA2 ERCC6 FEN1 RMI1
5
Show member pathways
12.79 WRN TOP3A RMI2 RMI1 DNA2 BRIP1
6
Show member pathways
12.6 WRN TOP3A RMI2 RMI1 DNA2 BRIP1
7
Show member pathways
12.37 WRN FEN1 ERCC6 BRIP1
8
Show member pathways
12.33 CDC45 DNA2 FEN1 MCM10
9
Show member pathways
12.27 WRN TOP3A RMI2 RMI1 MCM10 DNA2
10 12.23 BLM BRIP1 CDC45 FEN1 RECQL RECQL4
11
Show member pathways
12.18 WRN FEN1 DNA2 BLM
12
Show member pathways
12.14 WRN TOP3A RMI2 RMI1 DNA2 BRIP1
13
Show member pathways
12.08 WRN FEN1 DNA2 BLM
14 11.18 WRN TOP3A RMI1 RECQL5 RECQL4 RECQL
15 10.93 WRN FEN1
16
Show member pathways
10.88 WRN RECQL

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 10.49 BLM BRIP1 CDC45 DDX11 DNA2 ERCC6
2 nucleoplasm GO:0005654 10.19 BLM BRIP1 CDC45 DDX11 DNA2 ERCC6
3 chromosome, telomeric region GO:0000781 10.02 WRN RECQL4 FEN1 DNA2 BLM
4 chromosome GO:0005694 10 BLM DDX11 ESCO2 RECQL RECQL4 RECQL5
5 intracellular non-membrane-bounded organelle GO:0043232 9.37 WRN BLM
6 RecQ family helicase-topoisomerase III complex GO:0031422 9.23 TOP3A RMI2 RMI1 BLM

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.27 WRN RECQL5 MCM10 FEN1 ERCC6 DNA2
2 DNA repair GO:0006281 10.26 WRN RMI2 RECQL5 RECQL4 RECQL FEN1
3 DNA recombination GO:0006310 10.21 WRN RECQL5 RECQL4 RECQL BLM
4 double-strand break repair GO:0006302 10.17 WRN FEN1 ESCO2 BRIP1
5 telomere maintenance GO:0000723 10.16 WRN RECQL4 DNA2 BLM
6 DNA unwinding involved in DNA replication GO:0006268 10.1 BLM CDC45 RECQL RECQL4 RECQL5 WRN
7 base-excision repair GO:0006284 10.07 WRN FEN1 ERCC6 DNA2
8 replication fork processing GO:0031297 10.06 BLM DDX11 WRN
9 DNA duplex unwinding GO:0032508 10.06 BLM BRIP1 DDX11 DNA2 RECQL RECQL4
10 DNA metabolic process GO:0006259 10.04 BRIP1 DDX11 DNA2 RECQL5 WRN
11 G-quadruplex DNA unwinding GO:0044806 10.03 BLM DDX11 DNA2 WRN
12 t-circle formation GO:0090656 10.02 BLM DNA2 WRN
13 telomeric D-loop disassembly GO:0061820 10.01 WRN RECQL4 BLM
14 resolution of recombination intermediates GO:0071139 10.01 TOP3A RMI2 RMI1 BLM
15 telomere maintenance via semi-conservative replication GO:0032201 9.97 WRN FEN1 DNA2 BLM
16 cellular response to hydroxyurea GO:0072711 9.93 DDX11 BLM
17 DNA double-strand break processing GO:0000729 9.92 DNA2 BLM
18 DNA replication checkpoint signaling GO:0000076 9.92 DNA2 CDC45
19 cellular response to camptothecin GO:0072757 9.91 RECQL5 BLM
20 double-strand break repair via homologous recombination GO:0000724 9.91 BLM FEN1 RECQL RECQL4 RECQL5 RMI1
21 chromosome separation GO:0051304 9.9 TOP3A RECQL5
22 DNA replication, removal of RNA primer GO:0043137 9.89 FEN1 DNA2
23 positive regulation of sister chromatid cohesion GO:0045876 9.88 FEN1 DDX11
24 nucleobase-containing compound metabolic process GO:0006139 9.79 WRN DDX11 BRIP1
25 nucleic acid metabolic process GO:0090304 9.78 WRN DDX11 BRIP1 BLM
26 cellular component organization GO:0016043 9.63 DDX11 BRIP1
27 DNA replication GO:0006260 9.62 WRN RMI2 RMI1 RECQL5 RECQL4 RECQL

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.56 WRN RECQL5 RECQL4 RECQL ERCC6 DNA2
2 DNA binding GO:0003677 10.48 WRN TWIST1 TOP3A RMI2 RECQL MCM10
3 chromatin binding GO:0003682 10.34 WRN ERCC6 DDX11 CDC45 BRIP1
4 ATP hydrolysis activity GO:0016887 10.28 BLM BRIP1 DDX11 DNA2 ERCC6 RECQL
5 single-stranded DNA binding GO:0003697 10.25 BLM CDC45 DDX11 MCM10 TOP3A
6 nucleotide binding GO:0000166 10.24 BLM BRIP1 DDX11 DNA2 ERCC6 RECQL
7 hydrolase activity GO:0016787 10.13 BLM BRIP1 DDX11 DNA2 ERCC6 FEN1
8 4 iron, 4 sulfur cluster binding GO:0051539 10.1 DNA2 DDX11 BRIP1
9 ATP-dependent activity, acting on DNA GO:0008094 10.08 BLM DDX11 ERCC6
10 DNA replication origin binding GO:0003688 10.04 MCM10 DDX11 CDC45
11 G-quadruplex DNA binding GO:0051880 10.03 WRN DDX11 BLM
12 nucleic acid binding GO:0003676 10.02 WRN TOP3A RECQL5 RECQL4 RECQL DDX11
13 5'-3' DNA helicase activity GO:0043139 10.01 DNA2 DDX11 BRIP1
14 bubble DNA binding GO:0000405 10 WRN RECQL4 BLM
15 telomeric D-loop binding GO:0061821 9.95 WRN RECQL4 BLM
16 four-way junction DNA binding GO:0000400 9.94 WRN BLM
17 nuclease activity GO:0004518 9.93 WRN FEN1 DNA2
18 5'-flap endonuclease activity GO:0017108 9.93 FEN1 DNA2
19 Y-form DNA binding GO:0000403 9.92 BLM WRN
20 3'-5' DNA helicase activity GO:0043138 9.91 WRN RECQL5 RECQL4 RECQL BLM
21 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.89 WRN BLM
22 telomeric G-quadruplex DNA binding GO:0061849 9.88 WRN BLM
23 forked DNA-dependent helicase activity GO:0061749 9.88 WRN BLM
24 DNA/DNA annealing activity GO:1990814 9.88 RECQL4 RECQL BLM
25 four-way junction helicase activity GO:0009378 9.85 WRN RECQL5 RECQL4 RECQL BLM
26 iron-sulfur cluster binding GO:0051536 9.79 DNA2 DDX11 BRIP1
27 helicase activity GO:0004386 9.77 BLM BRIP1 DDX11 DNA2 ERCC6 RECQL
28 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.69 DDX11 BRIP1 BLM
29 DNA helicase activity GO:0003678 9.5 WRN RECQL5 RECQL ERCC6 DNA2 DDX11

Sources for Baller-Gerold Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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