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MCID: BLL001
MIFTS: 50

Baller-Gerold Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 57 12 24 53 25 59 75 37 29 13 55 6 15 40 73
Craniosynostosis-Radial Aplasia Syndrome 57 53 25 75
Craniosynostosis with Radial Defects 57 53 25 75
Bgs 57 53 25 75
Craniosynostosis Radial Aplasia Syndrome 44

Characteristics:

Orphanet epidemiological data:

59
baller-gerold syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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: 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Baller-Gerold Syndrome

About this section
NIH Rare Diseases : 53 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 fanconi anemia, complementation group a. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are DNA Damage and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include bone, heart and kidney, and related phenotypes are hypertelorism and frontal bossing

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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

Wikipedia : 76 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 all 22)
# Related Disease Score Top Affiliating Genes
1 rapadilino syndrome 31.0 LRRC14 MFSD3 RECQL RECQL4 RECQL5 WRN
2 fanconi anemia, complementation group a 28.9 BRIP1 DDX11 ERCC1 FANCB
3 craniosynostosis 10.6
4 hydrocephalus 10.3
5 parietal foramina 10.2 RECQL4 TWIST1
6 vater/vacterl association 10.2
7 roberts syndrome 10.2
8 vacterl association with hydrocephalus 10.2
9 vacterl association, x-linked, with or without hydrocephalus 10.2
10 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
11 lymphoma 10.2
12 vacterl association 10.2
13 dextrocardia 10.2
14 congenital hydrocephalus 10.2
15 vacterl association with hydrocephaly, x-linked 10.2
16 vacterl hydrocephaly 10.2
17 xfe progeroid syndrome 9.8 ERCC1 WRN
18 rothmund-thomson syndrome 9.7 RECQL RECQL4 RECQL5 WRN
19 bloom syndrome 9.7 RECQL RECQL4 RECQL5 WRN
20 werner syndrome 9.7 RECQL RECQL4 RECQL5 WRN
21 xeroderma pigmentosum, complementation group d 9.4 BRIP1 ERCC1
22 warsaw breakage syndrome 8.8 BRIP1 DDX11 ERCC1 TWNK WRN

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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Baller-Gerold Syndrome:

59 32 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 bowing of the long bones 59 32 frequent (33%) Frequent (79-30%) HP:0006487
7 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
8 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
11 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
12 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
13 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
14 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
15 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
16 broad forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000337
17 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
18 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
19 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
20 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
21 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
22 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
23 urogenital fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100589
24 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
25 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
26 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
27 narrow nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000446
28 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
29 osteosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002669
30 anteriorly placed anus 59 32 frequent (33%) Frequent (79-30%) HP:0001545
31 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
32 abnormal localization of kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0100542
33 brachyturricephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000244
34 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
35 aplasia/hypoplasia of the patella 59 32 frequent (33%) Frequent (79-30%) HP:0006498
36 aplasia/hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0006501
37 abnormality of the carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001191
38 poikiloderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001029
39 agenesis of corpus callosum 32 HP:0001274
40 hydrocephalus 32 HP:0000238
41 intellectual disability 32 HP:0001249
42 seizures 32 HP:0001250
43 abnormal vertebral morphology 32 HP:0003468
44 optic atrophy 32 HP:0000648
45 brachycephaly 59 Very frequent (99-80%)
46 strabismus 32 HP:0000486
47 growth delay 59 Very frequent (99-80%)
48 myopia 32 HP:0000545
49 underdeveloped nasal alae 32 HP:0000430
50 coronal craniosynostosis 32 HP:0004440

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 BRIP1 ERCC1 RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 BRIP1 COL2A1 DDX11 ERCC1 FANCB RECQL
2 embryo MP:0005380 9.76 CECR2 COL2A1 DDX11 ERCC1 RECQL4 SALL1
3 growth/size/body region MP:0005378 9.61 SALL1 TWIST1 WRN CECR2 COL2A1 DDX11
4 limbs/digits/tail MP:0005371 9.02 COL2A1 RECQL4 SALL1 TWIST1 WRN
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 29 RECQL4
Sources

Anatomical Context for Baller-Gerold Syndrome

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MalaCards organs/tissues related to Baller-Gerold Syndrome:

41
Bone, Heart, Kidney
Sources

Publications for Baller-Gerold Syndrome

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Articles related to Baller-Gerold Syndrome:

(show all 40)
# Title Authors Year
1
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. ( 24635570 )
2015
2
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. ( 25966250 )
2015
3
Baller-Gerold syndrome associated with dextrocardia. ( 21614991 )
2011
4
Baller-gerold syndrome a rare cause of heart-hand syndrome. ( 22347665 )
2011
5
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. ( 20196403 )
2009
6
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. ( 19291770 )
2009
7
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. ( 19753208 )
2008
8
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. ( 19966981 )
2008
9
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. ( 15964893 )
2006
10
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. ( 15789214 )
2006
11
Baller-Gerold syndrome after fetal exposure to sodium valproate. ( 15732083 )
2005
12
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. ( 14577674 )
2003
13
Baller-Gerold syndrome. ( 12557968 )
2002
14
Another TWIST on Baller-Gerold syndrome. ( 11754069 )
2001
15
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. ( 9934984 )
1999
16
A case of Baller-Gerold syndrome. ( 10327256 )
1999
17
Baller-Gerold syndrome associated with congenital portal venous malformation. ( 9733037 )
1998
18
Baller Gerold syndrome and Fanconi anaemia. ( 9450894 )
1998
19
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. ( 9856554 )
1998
20
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? ( 9786296 )
1998
21
Is there a Baller-Gerold syndrome? ( 8741920 )
1996
22
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. ( 8825173 )
1996
23
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )
1996
24
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. ( 8552221 )
1995
25
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. ( 7606324 )
1995
26
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. ( 7957363 )
1994
27
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. ( 8160763 )
1994
28
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. ( 8349962 )
1993
29
Further delineation of the Baller-Gerold syndrome. ( 8465861 )
1993
30
Baller-Gerold Syndrome ( 20301383 )
1993
31
Baller-Gerold syndrome: a postmortem examination. ( 8291562 )
1993
32
The Baller-Gerold syndrome. ( 1583650 )
1992
33
Baller-Gerold syndrome: case report and clinical and radiological review. ( 1536180 )
1992
34
Baller-Gerold syndrome associated with congenital hydrocephalus. ( 1951434 )
1991
35
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. ( 2359099 )
1990
36
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). ( 2074565 )
1990
37
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. ( 2260585 )
1990
38
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. ( 7315870 )
1981
39
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. ( 7363501 )
1980
40
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. ( 517480 )
1979
Sources

Variations for Baller-Gerold Syndrome

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

75
# 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 1562)
# 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.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
12 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic rs386833851 GRCh38 Chromosome 8, 144513126: 144513126
13 RECQL4 NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs) deletion Pathogenic rs386833852 GRCh37 Chromosome 8, 145737691: 145737691
14 RECQL4 NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs) deletion Pathogenic rs386833852 GRCh38 Chromosome 8, 144512308: 144512308
15 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
16 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh38 Chromosome 8, 144513139: 144513139
17 RECQL4 NM_004260.3(RECQL4): c.1685G> A (p.Arg562Gln) single nucleotide variant Uncertain significance rs375562152 GRCh37 Chromosome 8, 145739845: 145739845
18 RECQL4 NM_004260.3(RECQL4): c.1685G> A (p.Arg562Gln) single nucleotide variant Uncertain significance rs375562152 GRCh38 Chromosome 8, 144514461: 144514461
19 RECQL4 NM_004260.3(RECQL4): c.1704+9C> T single nucleotide variant Benign/Likely benign rs35876881 GRCh37 Chromosome 8, 145739817: 145739817
20 RECQL4 NM_004260.3(RECQL4): c.1704+9C> T single nucleotide variant Benign/Likely benign rs35876881 GRCh38 Chromosome 8, 144514433: 144514433
21 RECQL4 NM_004260.3(RECQL4): c.1872C> T (p.Val624=) single nucleotide variant Conflicting interpretations of pathogenicity rs201815449 GRCh37 Chromosome 8, 145739579: 145739579
22 RECQL4 NM_004260.3(RECQL4): c.1872C> T (p.Val624=) single nucleotide variant Conflicting interpretations of pathogenicity rs201815449 GRCh38 Chromosome 8, 144514195: 144514195
23 RECQL4 NM_004260.3(RECQL4): c.1954G> A (p.Val652Met) single nucleotide variant Benign rs61754061 GRCh37 Chromosome 8, 145739416: 145739416
24 RECQL4 NM_004260.3(RECQL4): c.1954G> A (p.Val652Met) single nucleotide variant Benign rs61754061 GRCh38 Chromosome 8, 144514032: 144514032
25 RECQL4 NM_004260.3(RECQL4): c.2538A> G (p.Val846=) single nucleotide variant Conflicting interpretations of pathogenicity rs746303718 GRCh37 Chromosome 8, 145738447: 145738447
26 RECQL4 NM_004260.3(RECQL4): c.2538A> G (p.Val846=) single nucleotide variant Conflicting interpretations of pathogenicity rs746303718 GRCh38 Chromosome 8, 144513064: 144513064
27 RECQL4 NM_004260.3(RECQL4): c.2953G> A (p.Val985Met) single nucleotide variant Likely benign rs200629599 GRCh37 Chromosome 8, 145737877: 145737877
28 RECQL4 NM_004260.3(RECQL4): c.2953G> A (p.Val985Met) single nucleotide variant Likely benign rs200629599 GRCh38 Chromosome 8, 144512494: 144512494
29 RECQL4 NM_004260.3(RECQL4): c.275C> T (p.Pro92Leu) single nucleotide variant Benign rs200516441 GRCh37 Chromosome 8, 145742513: 145742513
30 RECQL4 NM_004260.3(RECQL4): c.275C> T (p.Pro92Leu) single nucleotide variant Benign rs200516441 GRCh38 Chromosome 8, 144517129: 144517129
31 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh37 Chromosome 8, 145741454: 145741455
32 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh38 Chromosome 8, 144516070: 144516071
33 RECQL4 NM_004260.3(RECQL4): c.543G> A (p.Gln181=) single nucleotide variant Benign/Likely benign rs34159914 GRCh37 Chromosome 8, 145741960: 145741960
34 RECQL4 NM_004260.3(RECQL4): c.543G> A (p.Gln181=) single nucleotide variant Benign/Likely benign rs34159914 GRCh38 Chromosome 8, 144516576: 144516576
35 RECQL4 NM_004260.3(RECQL4): c.1395G> A (p.Thr465=) single nucleotide variant Benign rs34948955 GRCh37 Chromosome 8, 145740622: 145740622
36 RECQL4 NM_004260.3(RECQL4): c.1395G> A (p.Thr465=) single nucleotide variant Benign rs34948955 GRCh38 Chromosome 8, 144515238: 144515238
37 RECQL4 NM_004260.3(RECQL4): c.1391-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs190388213 GRCh37 Chromosome 8, 145740630: 145740630
38 RECQL4 NM_004260.3(RECQL4): c.1391-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs190388213 GRCh38 Chromosome 8, 144515246: 144515246
39 RECQL4 NM_004260.3(RECQL4): c.1649C> T (p.Ala550Val) single nucleotide variant Uncertain significance rs764297840 GRCh37 Chromosome 8, 145739881: 145739881
40 RECQL4 NM_004260.3(RECQL4): c.1649C> T (p.Ala550Val) single nucleotide variant Uncertain significance rs764297840 GRCh38 Chromosome 8, 144514497: 144514497
41 RECQL4 NM_004260.3(RECQL4): c.1028C> T (p.Pro343Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs549381989 GRCh37 Chromosome 8, 145741475: 145741475
42 RECQL4 NM_004260.3(RECQL4): c.1028C> T (p.Pro343Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs549381989 GRCh38 Chromosome 8, 144516091: 144516091
43 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh37 Chromosome 8, 145740709: 145740709
44 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh38 Chromosome 8, 144515325: 144515325
45 RECQL4 NM_004260.3(RECQL4): c.3622C> T (p.Arg1208Cys) single nucleotide variant Likely benign rs41555416 GRCh37 Chromosome 8, 145736819: 145736819
46 RECQL4 NM_004260.3(RECQL4): c.3622C> T (p.Arg1208Cys) single nucleotide variant Likely benign rs41555416 GRCh38 Chromosome 8, 144511436: 144511436
47 RECQL4 NM_004260.3(RECQL4): c.3609C> T (p.Leu1203=) single nucleotide variant Benign rs201384843 GRCh37 Chromosome 8, 145736832: 145736832
48 RECQL4 NM_004260.3(RECQL4): c.3609C> T (p.Leu1203=) single nucleotide variant Benign rs201384843 GRCh38 Chromosome 8, 144511449: 144511449
49 RECQL4 NM_004260.3(RECQL4): c.3594G> A (p.Leu1198=) single nucleotide variant Benign rs146398243 GRCh37 Chromosome 8, 145736847: 145736847
50 RECQL4 NM_004260.3(RECQL4): c.3594G> A (p.Leu1198=) single nucleotide variant Benign rs146398243 GRCh38 Chromosome 8, 144511464: 144511464
Sources

Expression for Baller-Gerold Syndrome

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

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
11.64 BRIP1 ERCC1 FANCB RECQL RECQL4 RECQL5
2
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 11.63 BRIP1 ERCC1 WRN
3
Fanconi anemia pathway 66 37
11.1 BRIP1 ERCC1 FANCB
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 nucleus GO:0005634 9.9 BRIP1 CECR2 DDX11 ERCC1 FANCB RECQL
2 nucleoplasm GO:0005654 9.61 BRIP1 DDX11 ERCC1 FANCB RECQL RECQL5
3 chromosome GO:0005694 9.02 DDX11 RECQL RECQL4 RECQL5 WRN

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 BRIP1 DDX11 ERCC1 FANCB RECQL5 WRN
2 DNA recombination GO:0006310 9.65 ERCC1 RECQL RECQL4 RECQL5 WRN
3 double-strand break repair GO:0006302 9.63 BRIP1 ERCC1 WRN
4 DNA replication GO:0006260 9.63 BRIP1 DDX11 RECQL4 RECQL5 TWNK WRN
5 double-strand break repair via homologous recombination GO:0000724 9.62 RECQL RECQL4 RECQL5 WRN
6 nucleobase-containing compound metabolic process GO:0006139 9.61 BRIP1 DDX11 WRN
7 telomere maintenance GO:0000723 9.6 RECQL4 WRN
8 base-excision repair GO:0006284 9.59 RECQL4 WRN
9 DNA metabolic process GO:0006259 9.58 RECQL5 WRN
10 DNA synthesis involved in DNA repair GO:0000731 9.58 BRIP1 WRN
11 replication fork processing GO:0031297 9.57 DDX11 WRN
12 strand displacement GO:0000732 9.56 BRIP1 WRN
13 DNA repair GO:0006281 9.56 BRIP1 DDX11 ERCC1 FANCB RECQL RECQL4
14 multicellular organism aging GO:0010259 9.55 ERCC1 WRN
15 t-circle formation GO:0090656 9.54 ERCC1 WRN
16 telomeric D-loop disassembly GO:0061820 9.52 RECQL4 WRN
17 DNA strand renaturation GO:0000733 9.51 RECQL RECQL4
18 outer ear morphogenesis GO:0042473 9.49 SALL1 TWIST1
19 G-quadruplex DNA unwinding GO:0044806 9.48 DDX11 WRN
20 replicative cell aging GO:0001302 9.4 ERCC1 WRN
21 DNA duplex unwinding GO:0032508 9.1 BRIP1 DDX11 RECQL RECQL4 RECQL5 WRN

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.93 BRIP1 DDX11 RECQL RECQL5 SALL1 WRN
2 single-stranded DNA binding GO:0003697 9.72 DDX11 ERCC1 TWNK
3 ATP-dependent DNA helicase activity GO:0004003 9.67 BRIP1 DDX11 RECQL WRN
4 DNA helicase activity GO:0003678 9.62 RECQL RECQL5 TWNK WRN
5 4 iron, 4 sulfur cluster binding GO:0051539 9.57 BRIP1 DDX11
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.56 BRIP1 DDX11
7 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.56 RECQL RECQL4 RECQL5 WRN
8 annealing helicase activity GO:0036310 9.51 RECQL RECQL4
9 helicase activity GO:0004386 9.5 BRIP1 DDX11 RECQL RECQL4 RECQL5 TWNK
10 G-quadruplex DNA binding GO:0051880 9.49 DDX11 WRN
11 bubble DNA binding GO:0000405 9.48 RECQL4 WRN
12 four-way junction helicase activity GO:0009378 9.46 RECQL RECQL4 RECQL5 WRN
13 telomeric D-loop binding GO:0061821 9.43 RECQL4 WRN
14 ATP-dependent helicase activity GO:0008026 9.1 BRIP1 DDX11 RECQL RECQL4 RECQL5 WRN
15 hydrolase activity GO:0016787 10.08 BRIP1 DDX11 ERCC1 RECQL RECQL5 TWNK
16 ATP binding GO:0005524 10.07 BRIP1 DDX11 RECQL RECQL4 RECQL5 TWNK
17 DNA binding GO:0003677 10.06 BRIP1 DDX11 ERCC1 RECQL RECQL4 RECQL5
Sources

Sources for Baller-Gerold Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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