BGS
MCID: BLL001
MIFTS: 52

Baller-Gerold Syndrome (BGS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Baller-Gerold Syndrome

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44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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. last updated: 5/25/2011

MalaCards: Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to craniosynostosis and roberts syndrome, and has symptoms including cardiac septal defect, conductive deafness/hearing loss and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways is Cell Cycle / Checkpoint Control. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are limbs/digits/tail and skeleton.

Description from OMIM:48 218600

GeneReviews summary for bgs

Aliases & Classifications for Baller-Gerold Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
baller-gerold syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

baller-gerold syndrome 9 10 20 44 21 23 22 48 11 46 50 63
craniosynostosis-radial aplasia syndrome 44 22
craniosynostosis with radial defects 44 22
bgs 44 22


External Ids:

Disease Ontology9 DOID:0050654
OMIM48 218600
MESH via Orphanet37 C536788
ICD10 via Orphanet27 Q87.0
SNOMED-CT via Orphanet60 77608001
UMLS via Orphanet64 C0265308

Related Diseases for Baller-Gerold Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Baller-Gerold Syndrome:



Diseases related to baller-gerold syndrome

Symptoms for Baller-Gerold Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

218600

Clinical features from OMIM:

218600

Symptoms:

50 (show all 43)
  • cardiac septal defect
  • conductive deafness/hearing loss
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • narrow nasal root
  • high nasal bridge
  • epicanthic folds
  • nystagmus
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypotelorism
  • scoliosis
  • telangiectasic erythema/poikiloderma
  • lymphoma
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • vesicorenal/vesicoureteral reflux
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urogenital fistulae
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • ectopic/horseshoe/fused kidneys
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • hypertelorism
  • narrow face
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • thumb hypoplasia/aplasia/absence
  • oligodactyly/ectrodactyly of fingers
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • proptosis/exophthalmos
  • frontal bossing/prominent forehead
  • large fontanelle/delayed fontanelle closure
  • brachycephaly/flat occiput
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • microstomia/little mouth
  • broad forehead
  • intrauterine growth retardation
  • bowed diaphysis/diaphyses/long bones
  • malabsorption/chronic diarrhea/steatorrhea
  • anus ectopia/anteposition/malposition
  • patella absent/abnormal (excluding luxation)
  • metacarpal anomalies/archibald's sign
  • wrist/carpal anomalies
  • high vaulted/narrow palate
  • turricephaly/oxycephaly/acrocephaly

Drugs & Therapeutics for Baller-Gerold Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Baller-Gerold Syndrome

Drug clinical trials:

Search ClinicalTrials for Baller-Gerold Syndrome

Search NIH Clinical Center for Baller-Gerold Syndrome

Search CenterWatch for Baller-Gerold Syndrome

Genetic Tests for Baller-Gerold Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Baller-Gerold Syndrome:

id Genetic test Affiliating Genes
1 Baller-Gerold Syndrome21 23 RECQL4

Anatomical Context for Baller-Gerold Syndrome

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34MalaCards
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MalaCards organs/tissues related to Baller-Gerold Syndrome:

34
Bone, Kidney, Heart

Animal Models for Baller-Gerold Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9ERCC6, TWIST1, RECQL4, SALL1
2MP:00053908.8ERCC6, SALL1, RECQL4, TWIST1
3MP:00053808.6TWIST1, RECQL4, SALL1, DDX11
4MP:00107688.4ERCC6, TWIST1, RECQL4, SALL1, DDX11
5MP:00053788.3SALL1, RECQL4, TWIST1, ERCC6, DDX11
6MP:00053847.1SALL1, TWIST1, ERCC6, RECQL, RECQL4, RECQL5

Publications for Baller-Gerold Syndrome

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53PubMed
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Articles related to Baller-Gerold Syndrome:

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

Variations for Baller-Gerold Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Baller-Gerold Syndrome:

65
id Symbol AA change Variation ID SNP ID
1RECQL4p.Arg1021TrpVAR_026591

Clinvar genetic disease variations for Baller-Gerold Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)single nucleotide variantPathogenicrs137853232GRCh37Chr 8, 145737702: 145737702
2RECQL4RECQL4, 1-BP DEL, 2886TdeletionPathogenic
3RECQL4RECQL4, IVS17AS, A-C, -2single nucleotide variantPathogenic

Expression for genes affiliated with Baller-Gerold Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Baller-Gerold Syndrome

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

Pathways for genes affiliated with Baller-Gerold Syndrome

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51PathCards, 5Cell Signaling Technology
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Pathways related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8RECQL5, RECQL, RECQL4

Compounds for genes affiliated with Baller-Gerold Syndrome

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GO Terms for genes affiliated with Baller-Gerold Syndrome

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17Gene Ontology
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Cellular components related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057308.2ERCC6, RECQL5, RECQL, DDX11
2nucleusGO:0056346.7ERCC6, DDX11, SALL1, RECQL4, RECQL, RECQL5

Biological processes related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:0424739.8SALL1, TWIST1
2embryonic digit morphogenesisGO:0427339.6SALL1, TWIST1
3ATP catabolic processGO:0062009.5ERCC6, DDX11
4neural tube closureGO:0018439.4TWIST1, SALL1
5DNA strand renaturationGO:0007339.4RECQL4, RECQL
6DNA recombinationGO:0063108.9RECQL5, RECQL, RECQL4
7DNA replicationGO:0062608.8RECQL5, RECQL, RECQL4
8DNA duplex unwindingGO:0325088.5RECQL5, RECQL, RECQL4, DDX11
9DNA repairGO:0062818.4RECQL4, RECQL, RECQL5, ERCC6

Molecular functions related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent 3-5 DNA helicase activityGO:0431409.4RECQL4, RECQL
2annealing helicase activityGO:0363109.4RECQL, RECQL4
3DNA-dependent ATPase activityGO:0080949.2ERCC6, DDX11
4ATP-dependent DNA helicase activityGO:0040039.1DDX11, RECQL
5DNA helicase activityGO:0036788.3RECQL5, DDX11, RECQL, ERCC6
6DNA bindingGO:0036778.3DDX11, SALL1, RECQL, ERCC6
7ATP bindingGO:0055247.8DDX11, RECQL4, RECQL, RECQL5, ERCC6

Products for genes affiliated with Baller-Gerold Syndrome

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Sources for Baller-Gerold Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet