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BGS
MCID: BLL001
MIFTS: 50

Baller-Gerold Syndrome (BGS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Baller-Gerold Syndrome

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MalaCards integrated aliases for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 58 12 25 54 26 60 76 38 30 13 56 6 15 41 74
Craniosynostosis-Radial Aplasia Syndrome 58 54 26 76
Craniosynostosis with Radial Defects 58 54 26 76
Bgs 58 54 26 76
Craniosynostosis Radial Aplasia Syndrome 45

Characteristics:

Orphanet epidemiological data:

60
baller-gerold syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
baller-gerold syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Baller-Gerold Syndrome

About this section
NIH Rare Diseases : 54 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, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders.  Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions 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. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include bone, heart 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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Baller–Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull... more...

GeneReviews: NBK1204
Sources

Related Diseases for Baller-Gerold Syndrome

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 rapadilino syndrome 31.8 LRRC14 MFSD3 RECQL RECQL4 RECQL5 WRN
2 rothmund-thomson syndrome 30.2 RECQL RECQL4 RECQL5 WRN
3 craniosynostosis 10.8
4 triiodothyronine receptor auxiliary protein 10.5
5 saethre-chotzen syndrome 10.5
6 fanconi anemia, complementation group a 10.5
7 hydrocephalus 10.5
8 vater/vacterl association 10.3
9 roberts syndrome 10.3
10 vacterl association with hydrocephalus 10.3
11 vacterl association, x-linked, with or without hydrocephalus 10.3
12 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.3
13 human venous malformation 10.3
14 lymphoma 10.3
15 vacterl association 10.3
16 dextrocardia 10.3
17 congenital hydrocephalus 10.3
18 vacterl association with hydrocephaly, x-linked 10.3
19 vacterl hydrocephaly 10.3
20 malaria 10.2
21 lymphoblastic lymphoma 10.0
22 choreatic disease 10.0
23 wallerian degeneration 10.0
24 hypoplastic right heart syndrome 9.9 SALL1 TWIST1
25 acquired generalized lipodystrophy 9.9 RECQL5 WRN
26 blood group--wright antigen 9.9
27 esophageal cancer 9.9
28 prostate cancer 9.9
29 retinoblastoma 9.9
30 rheumatoid arthritis 9.9
31 wolff-parkinson-white syndrome 9.9
32 chediak-higashi syndrome 9.9
33 laryngoonychocutaneous syndrome 9.9
34 polycythemia vera 9.9
35 scapuloperoneal myopathy, x-linked dominant 9.9
36 blood group--swann system 9.9
37 prostate cancer, hereditary, 8 9.9
38 macular degeneration, age-related, 1 9.9
39 salla disease 9.9
40 ovarian cancer 1 9.9
41 tropical calcific pancreatitis 9.9
42 myocardial infarction 9.9
43 prostate cancer, hereditary, 6 9.9
44 west nile virus 9.9
45 blood group, junior system 9.9
46 cataract 9.9
47 insulinoma 9.9
48 neutropenia 9.9
49 diphtheria 9.9
50 mastocytosis 9.9

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



Diseases related to Baller-Gerold Syndrome
Sources

Symptoms & Phenotypes for Baller-Gerold Syndrome

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Human phenotypes related to Baller-Gerold Syndrome:

60 33 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 failure to thrive in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001531
4 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
5 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
6 brachyturricephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000244
7 aplasia/hypoplasia of the thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009601
8 aplasia/hypoplasia of the radius 60 33 hallmark (90%) Very frequent (99-80%) HP:0006501
9 hand oligodactyly 33 hallmark (90%) HP:0001180
10 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
11 bowing of the long bones 60 33 frequent (33%) Frequent (79-30%) HP:0006487
12 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
13 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
14 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
15 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
16 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
17 anteriorly placed anus 60 33 frequent (33%) Frequent (79-30%) HP:0001545
18 aplasia/hypoplasia of the patella 60 33 frequent (33%) Frequent (79-30%) HP:0006498
19 abnormality of the carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001191
20 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
21 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
22 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
23 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
24 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
25 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
26 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
27 broad forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000337
28 narrow face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000275
29 conductive hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000405
30 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
31 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
32 urogenital fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0100589
33 lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002665
34 narrow nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000446
35 hypotelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000601
36 osteosarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002669
37 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
38 abnormal localization of kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0100542
39 poikiloderma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001029
40 abnormal cardiac septum morphology 33 occasional (7.5%) HP:0001671
41 agenesis of corpus callosum 33 HP:0001274
42 hydrocephalus 33 HP:0000238
43 intellectual disability 33 HP:0001249
44 seizures 33 HP:0001250
45 abnormal vertebral morphology 33 HP:0003468
46 optic atrophy 33 HP:0000648
47 brachycephaly 60 Very frequent (99-80%)
48 strabismus 33 HP:0000486
49 growth delay 60 Very frequent (99-80%)
50 myopia 33 HP:0000545

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Growth Height:
short stature

Head And Neck Nose:
prominent nasal bridge

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 Mouth:
high palate
microstomia

Head And Neck Face:
micrognathia
flattened forehead

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

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

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

27 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.09 SALL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 SALL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.09 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.09 TWIST1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.09 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.09 ERCC6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.09 SALL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.09 TWIST1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.09 ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.09 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.09 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 ERCC6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.09 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.09 ERCC6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 TWIST1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.09 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.09 ERCC6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.09 ERCC6 SALL1 TWIST1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.09 ERCC6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.09 ERCC6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.09 TWIST1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.09 SALL1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.09 TWIST1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.09 SALL1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10.09 SALL1
26 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 ERCC6 RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 AURKB COL2A1 DDX11 ERCC6 RECQL RECQL4
2 cardiovascular system MP:0005385 10 AURKB COL2A1 DDX11 SALL1 TWIST1 TWNK
3 growth/size/body region MP:0005378 9.97 AURKB COL2A1 DDX11 ERCC6 RECQL4 SALL1
4 embryo MP:0005380 9.91 AURKB COL2A1 DDX11 RECQL4 SALL1 TWIST1
5 digestive/alimentary MP:0005381 9.88 COL2A1 RECQL4 SALL1 TERT TWIST1 WRN
6 mortality/aging MP:0010768 9.85 AURKB COL2A1 DDX11 ERCC6 RECQL4 SALL1
7 limbs/digits/tail MP:0005371 9.73 COL2A1 ERCC6 RECQL4 SALL1 TWIST1 WRN
8 neoplasm MP:0002006 9.35 AURKB ERCC6 RECQL4 TERT WRN
9 skeleton MP:0005390 9.17 COL2A1 ERCC6 RECQL4 SALL1 TERT TWIST1
Sources

Drugs & Therapeutics for Baller-Gerold Syndrome

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

Cochrane evidence based reviews: craniosynostosis radial aplasia syndrome

Sources

Genetic Tests for Baller-Gerold Syndrome

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Genetic tests related to Baller-Gerold Syndrome:

# Genetic test Affiliating Genes
1 Baller-Gerold Syndrome 30 RECQL4
Sources

Anatomical Context for Baller-Gerold Syndrome

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MalaCards organs/tissues related to Baller-Gerold Syndrome:

42
Bone, Heart, Kidney, Prostate
Sources

Publications for Baller-Gerold Syndrome

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Articles related to Baller-Gerold Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
Preparation of a novel bone wax with modified tricalcium silicate cement and BGs. ( 30889773 )
2019
2
The method of UCN "small heating" measurement in the big gravitational spectrometer (BGS) and studies of this effect on Fomblin oil Y-HVAC 18/8. ( 29495873 )
2018
3
Novel bone wax based on tricalcium silicate cement and BGs mixtures. ( 30065126 )
2018
4
Characterization of Chemically-Induced Bacterial Ghosts (BGs) Using Sodium Hydroxide-Induced Vibrio parahaemolyticus Ghosts (VPGs). ( 27854308 )
2016
5
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. ( 25966250 )
2015
6
A critical re-evaluation of the prediction of alkalinity and base cation chemistry from BGS sediment composition data. ( 24657578 )
2014
7
Generation and characterization of a novel Cyp2a(4/5)bgs-null mouse model. ( 23073733 )
2013
8
Statistical modeling and optimization of alkaline protease production from a newly isolated alkalophilic Bacillus species BGS using response surface methodology and genetic algorithm. ( 23379276 )
2013
9
Impact of nicotine metabolism on nicotine's pharmacological effects and behavioral responses: insights from a Cyp2a(4/5)bgs-null mouse. ( 24045421 )
2013
10
A systemic vaccine based on Escherichia coli O157:H7 bacterial ghosts (BGs) reduces the excretion of E. coli O157:H7 in calves. ( 22460171 )
2012
11
Baller-Gerold syndrome associated with dextrocardia. ( 21614991 )
2011
12
Baller-gerold syndrome a rare cause of heart-hand syndrome. ( 22347665 )
2011
13
A 90-day intravenous administration toxicity study of CaO-SiO2-P2O5-B2O3 glass-ceramics (BGS-7) in rat. ( 19995308 )
2010
14
Bacterial ghosts (BGs)--advanced antigen and drug delivery system. ( 20619379 )
2010
15
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. ( 19291770 )
2009
16
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. ( 20196403 )
2009
17
A retention-time-shift-tolerant background subtraction and noise reduction algorithm (BgS-NoRA) for extraction of drug metabolites in liquid chromatography/mass spectrometry data from biological matrices. ( 19408276 )
2009
18
The mutation spectrum in RECQL4 diseases. ( 18716613 )
2009
19
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. ( 19753208 )
2008
20
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. ( 19966981 )
2008
21
Production of extracellular bifidogenic growth stimulator (BGS) from Propionibacterium shermanii using a bioreactor system with a microfiltration module and an on-line controller for lactic acid concentration. ( 18397766 )
2008
22
A novel BES-gluconate-sucrose (BGS) solution for cold storage of isolated hepatocytes. ( 18516342 )
2008
23
Periacetabular osteotomy in adult hip dysplasia - developing a computer aided real-time biomechanical guiding system (BGS). ( 20490364 )
2008
24
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. ( 15789214 )
2006
25
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. ( 15964893 )
2006
26
Baller-Gerold syndrome after fetal exposure to sodium valproate. ( 15732083 )
2005
27
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. ( 14577674 )
2003
28
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. ( 12734318 )
2003
29
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. ( 12838562 )
2003
30
Baller-Gerold syndrome. ( 12557968 )
2002
31
Another TWIST on Baller-Gerold syndrome. ( 11754069 )
2001
32
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. ( 10678659 )
2000
33
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. ( 9934984 )
1999
34
A case of Baller-Gerold syndrome. ( 10327256 )
1999
35
Baller Gerold syndrome and Fanconi anaemia. ( 9450894 )
1998
36
Baller-Gerold syndrome associated with congenital portal venous malformation. ( 9733037 )
1998
37
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? ( 9786296 )
1998
38
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. ( 9856554 )
1998
39
Is there a Baller-Gerold syndrome? ( 8741920 )
1996
40
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )
1996
41
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. ( 8825173 )
1996
42
Establishing links between the AGS and the BGS. ( 8636597 )
1996
43
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. ( 8552221 )
1995
44
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. ( 7606324 )
1995
45
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. ( 7957363 )
1994
46
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. ( 8160763 )
1994
47
Baller-Gerold syndrome: a postmortem examination. ( 8291562 )
1993
48
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. ( 8349962 )
1993
49
Further delineation of the Baller-Gerold syndrome. ( 8465861 )
1993
50
Baller-Gerold syndrome: case report and clinical and radiological review. ( 1536180 )
1992
Sources

Variations for Baller-Gerold Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 RECQL4 p.Arg1021Trp VAR_026591 rs137853232

ClinVar genetic disease variations for Baller-Gerold Syndrome:

6 (show top 50) (show all 1999)
# Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh37 Chromosome 8, 145738796: 145738796
2 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh38 Chromosome 8, 144513412: 144513412
3 RECQL4 NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs) deletion Pathogenic rs752729755 GRCh37 Chromosome 8, 145738492: 145738493
4 RECQL4 NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs) deletion Pathogenic rs752729755 GRCh38 Chromosome 8, 144513109: 144513110
5 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
6 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic rs386833845 GRCh38 Chromosome 8, 144514983: 144514983
7 RECQL4 NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp) single nucleotide variant Pathogenic rs137853232 GRCh37 Chromosome 8, 145737702: 145737702
8 RECQL4 NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp) single nucleotide variant Pathogenic rs137853232 GRCh38 Chromosome 8, 144512319: 144512319
9 RECQL4 NM_004260.3(RECQL4): c.3056-2A> C single nucleotide variant Pathogenic rs786200889 GRCh37 Chromosome 8, 145737709: 145737709
10 RECQL4 NM_004260.3(RECQL4): c.3056-2A> C single nucleotide variant Pathogenic rs786200889 GRCh38 Chromosome 8, 144512326: 144512326
11 RECQL4 NM_004260.3(RECQL4): c.1397C> T (p.Pro466Leu) single nucleotide variant Likely pathogenic rs386833844 GRCh37 Chromosome 8, 145740620: 145740620
12 RECQL4 NM_004260.3(RECQL4): c.1397C> T (p.Pro466Leu) single nucleotide variant Likely pathogenic rs386833844 GRCh38 Chromosome 8, 144515236: 144515236
13 RECQL4 NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu) single nucleotide variant Uncertain significance rs386833850 GRCh37 Chromosome 8, 145739064: 145739064
14 RECQL4 NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu) single nucleotide variant Uncertain significance rs386833850 GRCh38 Chromosome 8, 144513680: 144513680
15 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
16 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic rs386833851 GRCh38 Chromosome 8, 144513126: 144513126
17 RECQL4 NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs) deletion Pathogenic rs386833852 GRCh37 Chromosome 8, 145737691: 145737691
18 RECQL4 NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs) deletion Pathogenic rs386833852 GRCh38 Chromosome 8, 144512308: 144512308
19 RECQL4 NM_004260.3(RECQL4): c.1124G> A (p.Arg375His) single nucleotide variant Uncertain significance rs398124115 GRCh37 Chromosome 8, 145741379: 145741379
20 RECQL4 NM_004260.3(RECQL4): c.1124G> A (p.Arg375His) single nucleotide variant Uncertain significance rs398124115 GRCh38 Chromosome 8, 144515995: 144515995
21 RECQL4 NM_004260.3(RECQL4): c.1936C> T (p.Arg646Cys) single nucleotide variant Uncertain significance rs398124116 GRCh37 Chromosome 8, 145739434: 145739434
22 RECQL4 NM_004260.3(RECQL4): c.1936C> T (p.Arg646Cys) single nucleotide variant Uncertain significance rs398124116 GRCh38 Chromosome 8, 144514050: 144514050
23 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
24 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh38 Chromosome 8, 144513139: 144513139
25 RECQL4 NM_004260.3(RECQL4): c.2636C> A (p.Pro879His) single nucleotide variant Benign rs137975310 GRCh37 Chromosome 8, 145738349: 145738349
26 RECQL4 NM_004260.3(RECQL4): c.2636C> A (p.Pro879His) single nucleotide variant Benign rs137975310 GRCh38 Chromosome 8, 144512966: 144512966
27 RECQL4 NM_004260.3(RECQL4): c.3600G> A (p.Thr1200=) single nucleotide variant Conflicting interpretations of pathogenicity rs35225938 GRCh37 Chromosome 8, 145736841: 145736841
28 RECQL4 NM_004260.3(RECQL4): c.3600G> A (p.Thr1200=) single nucleotide variant Conflicting interpretations of pathogenicity rs35225938 GRCh38 Chromosome 8, 144511458: 144511458
29 RECQL4 NM_004260.3(RECQL4): c.565G> A (p.Gly189Ser) single nucleotide variant Benign rs34371341 GRCh37 Chromosome 8, 145741938: 145741938
30 RECQL4 NM_004260.3(RECQL4): c.565G> A (p.Gly189Ser) single nucleotide variant Benign rs34371341 GRCh38 Chromosome 8, 144516554: 144516554
31 RECQL4 NM_004260.3(RECQL4): c.891C> T (p.Asp297=) single nucleotide variant Benign rs34700133 GRCh37 Chromosome 8, 145741612: 145741612
32 RECQL4 NM_004260.3(RECQL4): c.891C> T (p.Asp297=) single nucleotide variant Benign rs34700133 GRCh38 Chromosome 8, 144516228: 144516228
33 RECQL4 NM_004260.3(RECQL4): c.1625C> T (p.Ser542Phe) single nucleotide variant Benign rs369852601 GRCh38 Chromosome 8, 144514521: 144514521
34 RECQL4 NM_004260.3(RECQL4): c.1625C> T (p.Ser542Phe) single nucleotide variant Benign rs369852601 GRCh37 Chromosome 8, 145739905: 145739905
35 RECQL4 NM_004260.3(RECQL4): c.1652C> T (p.Ala551Val) single nucleotide variant Uncertain significance rs587778643 GRCh38 Chromosome 8, 144514494: 144514494
36 RECQL4 NM_004260.3(RECQL4): c.1652C> T (p.Ala551Val) single nucleotide variant Uncertain significance rs587778643 GRCh37 Chromosome 8, 145739878: 145739878
37 RECQL4 NM_004260.3(RECQL4): c.1684C> T (p.Arg562Trp) single nucleotide variant Uncertain significance rs61759892 GRCh38 Chromosome 8, 144514462: 144514462
38 RECQL4 NM_004260.3(RECQL4): c.1684C> T (p.Arg562Trp) single nucleotide variant Uncertain significance rs61759892 GRCh37 Chromosome 8, 145739846: 145739846
39 RECQL4 NM_004260.3(RECQL4): c.1697T> C (p.Leu566Pro) single nucleotide variant Uncertain significance rs201648505 GRCh38 Chromosome 8, 144514449: 144514449
40 RECQL4 NM_004260.3(RECQL4): c.1697T> C (p.Leu566Pro) single nucleotide variant Uncertain significance rs201648505 GRCh37 Chromosome 8, 145739833: 145739833
41 RECQL4 NM_004260.3(RECQL4): c.1708C> T (p.Arg570Trp) single nucleotide variant Uncertain significance rs373178405 GRCh38 Chromosome 8, 144514359: 144514359
42 RECQL4 NM_004260.3(RECQL4): c.1708C> T (p.Arg570Trp) single nucleotide variant Uncertain significance rs373178405 GRCh37 Chromosome 8, 145739743: 145739743
43 RECQL4 NM_004260.3(RECQL4): c.1772C> T (p.Pro591Leu) single nucleotide variant Benign rs2721191 GRCh38 Chromosome 8, 144514295: 144514295
44 RECQL4 NM_004260.3(RECQL4): c.1772C> T (p.Pro591Leu) single nucleotide variant Benign rs2721191 GRCh37 Chromosome 8, 145739679: 145739679
45 RECQL4 NM_004260.3(RECQL4): c.1726G> A (p.Val576Met) single nucleotide variant Uncertain significance rs570331496 GRCh38 Chromosome 8, 144514341: 144514341
46 RECQL4 NM_004260.3(RECQL4): c.1726G> A (p.Val576Met) single nucleotide variant Uncertain significance rs570331496 GRCh37 Chromosome 8, 145739725: 145739725
47 RECQL4 NM_004260.3(RECQL4): c.1868G> A (p.Arg623His) single nucleotide variant Uncertain significance rs201734382 GRCh38 Chromosome 8, 144514199: 144514199
48 RECQL4 NM_004260.3(RECQL4): c.1868G> A (p.Arg623His) single nucleotide variant Uncertain significance rs201734382 GRCh37 Chromosome 8, 145739583: 145739583
49 RECQL4 NM_004260.3(RECQL4): c.2086C> A (p.Arg696Ser) single nucleotide variant Likely benign rs531970883 GRCh38 Chromosome 8, 144513685: 144513685
50 RECQL4 NM_004260.3(RECQL4): c.2086C> A (p.Arg696Ser) single nucleotide variant Likely benign rs531970883 GRCh37 Chromosome 8, 145739069: 145739069
Sources

Expression for Baller-Gerold Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
DNA Damage 4
11.49 AURKB RECQL RECQL4 RECQL5 WRN
Sources

GO Terms for Baller-Gerold Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.81 AURKB DDX11 ERCC6 RECQL RECQL5 SALL1
2 mitochondrial nucleoid GO:0042645 9.32 TERT TWNK
3 chromocenter GO:0010369 9.26 AURKB SALL1
4 chromosome GO:0005694 9.17 AURKB DDX11 RECQL RECQL4 RECQL5 TERT
5 chromosome, telomeric region GO:0000781 9.13 RECQL4 TERT WRN

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.84 DDX11 ERCC6 RECQL5 WRN
2 DNA repair GO:0006281 9.63 DDX11 ERCC6 RECQL RECQL4 RECQL5 WRN
3 DNA recombination GO:0006310 9.62 RECQL RECQL4 RECQL5 WRN
4 positive regulation of Wnt signaling pathway GO:0030177 9.58 SALL1 TERT
5 telomere maintenance GO:0000723 9.58 RECQL4 TERT WRN
6 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.57 COL2A1 TERT
7 DNA metabolic process GO:0006259 9.56 RECQL5 WRN
8 double-strand break repair via homologous recombination GO:0000724 9.56 RECQL RECQL4 RECQL5 WRN
9 replication fork processing GO:0031297 9.55 DDX11 WRN
10 base-excision repair GO:0006284 9.54 ERCC6 RECQL4 WRN
11 negative regulation of cellular senescence GO:2000773 9.52 TERT TWIST1
12 response to X-ray GO:0010165 9.51 ERCC6 RECQL5
13 DNA strand renaturation GO:0000733 9.49 RECQL RECQL4
14 outer ear morphogenesis GO:0042473 9.48 SALL1 TWIST1
15 telomeric D-loop disassembly GO:0061820 9.46 RECQL4 WRN
16 G-quadruplex DNA unwinding GO:0044806 9.43 DDX11 WRN
17 DNA replication GO:0006260 9.35 DDX11 RECQL4 RECQL5 TWNK WRN
18 DNA duplex unwinding GO:0032508 9.17 DDX11 ERCC6 RECQL RECQL4 RECQL5 TWNK

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.97 AURKB DDX11 ERCC6 RECQL RECQL4 RECQL5
2 single-stranded DNA binding GO:0003697 9.72 DDX11 RECQL4 TWNK
3 ATP-dependent 3'-5' DNA helicase activity GO:0043140 9.62 RECQL RECQL4 RECQL5 WRN
4 ATP-dependent DNA helicase activity GO:0004003 9.61 DDX11 RECQL WRN
5 DNA-dependent ATPase activity GO:0008094 9.56 DDX11 ERCC6
6 four-way junction helicase activity GO:0009378 9.56 RECQL RECQL4 RECQL5 WRN
7 DNA helicase activity GO:0003678 9.55 ERCC6 RECQL RECQL5 TWNK WRN
8 G-quadruplex DNA binding GO:0051880 9.51 DDX11 WRN
9 helicase activity GO:0004386 9.5 DDX11 ERCC6 RECQL RECQL4 RECQL5 TWNK
10 annealing helicase activity GO:0036310 9.49 RECQL RECQL4
11 bubble DNA binding GO:0000405 9.48 RECQL4 WRN
12 telomeric D-loop binding GO:0061821 9.46 RECQL4 WRN
13 ATP-dependent helicase activity GO:0008026 9.02 DDX11 RECQL RECQL4 RECQL5 WRN
14 hydrolase activity GO:0016787 10.07 DDX11 ERCC6 RECQL RECQL4 RECQL5 TWNK
15 DNA binding GO:0003677 10.06 DDX11 ERCC6 RECQL RECQL4 RECQL5 SALL1
16 nucleic acid binding GO:0003676 10.01 DDX11 RECQL RECQL4 RECQL5 SALL1 WRN
Sources

Sources for Baller-Gerold Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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