Baller-Gerold Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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 Expand all tables

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Aliases & Classifications for Baller-Gerold Syndrome

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

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of skull and face bones

Craniosynostosis

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0050654

OMIM ⁵⁸ 218600

KEGG ³⁸ H01993

MeSH ⁴⁵ C536788 D003398

SNOMED-CT ⁶⁹ 77608001

MESH via Orphanet ⁴⁶ C536788

ICD10 via Orphanet ³⁵ Q75.0

UMLS via Orphanet ⁷⁵ C0265308

Orphanet ⁶⁰ ORPHA1225

MedGen ⁴³ C0265308

SNOMED-CT via HPO ⁷⁰ 109417006 109418001 111266001 more

UMLS ⁷⁴ C0265308

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Summaries for Baller-Gerold Syndrome

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 craniosynostosis. 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

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Related Diseases for Baller-Gerold Syndrome

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

(show all 46)

#	Related Disease	Score	Top Affiliating Genes
1	rapadilino syndrome	31.7	LRRC14 MFSD3 RECQL RECQL4 RECQL5 WRN
2	craniosynostosis	10.8
3	triiodothyronine receptor auxiliary protein	10.5
4	fanconi anemia, complementation group a	10.5
5	hydrocephalus	10.5
6	vater/vacterl association	10.3
7	roberts syndrome	10.3
8	vacterl association with hydrocephalus	10.3
9	vacterl association, x-linked, with or without hydrocephalus	10.3
10	corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	10.3
11	lymphoma	10.3
12	vacterl association	10.3
13	dextrocardia	10.3
14	congenital hydrocephalus	10.3
15	vacterl association with hydrocephaly, x-linked	10.3
16	vacterl hydrocephaly	10.3
17	malaria	10.2
18	lymphoblastic lymphoma	10.0
19	choreatic disease	10.0
20	wallerian degeneration	10.0
21	hypoplastic right heart syndrome	9.9	SALL1 TWIST1
22	esophageal cancer	9.9
23	prostate cancer	9.9
24	retinoblastoma	9.9
25	wolff-parkinson-white syndrome	9.9
26	chediak-higashi syndrome	9.9
27	polycythemia vera	9.9
28	blood group--swann system	9.9
29	prostate cancer, hereditary, 8	9.9
30	macular degeneration, age-related, 1	9.9
31	ovarian cancer 1	9.9
32	tropical calcific pancreatitis	9.9
33	myocardial infarction	9.9
34	prostate cancer, hereditary, 6	9.9
35	west nile virus	9.9
36	cataract	9.9
37	insulinoma	9.9
38	neutropenia	9.9
39	diphtheria	9.9
40	mastocytosis	9.9
41	hyperglycemia	9.9
42	degos 'en cocarde' erythrokeratoderma	9.9
43	acquired generalized lipodystrophy	9.9	RECQL5 WRN
44	rothmund-thomson syndrome	9.8	RECQL RECQL4 RECQL5 WRN
45	bloom syndrome	9.7	RECQL RECQL4 RECQL5 WRN
46	werner syndrome	9.7	RECQL RECQL4 RECQL5 WRN

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

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Symptoms & Phenotypes for Baller-Gerold Syndrome

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 27)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-101	10.1	SALL1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.1	SALL1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	10.1	ERCC6
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	10.1	TWIST1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	10.1	ERCC6
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	10.1	ERCC6
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-13	10.1	SALL1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-131	10.1	TWIST1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	10.1	ERCC6
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-136	10.1	ERCC6
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	10.1	ERCC6
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	10.1	ERCC6
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.1	ERCC6
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	10.1	ERCC6
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	10.1	TWIST1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	10.1	ERCC6
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-2	10.1	ERCC6
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	10.1	ERCC6 SALL1 TWIST1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	10.1	ERCC6
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-44	10.1	ERCC6
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	10.1	TWIST1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	10.1	SALL1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	10.1	ERCC6
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-79	10.1	TWIST1
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	10.1	SALL1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-96	10.1	SALL1
27	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

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Drugs & Therapeutics for Baller-Gerold Syndrome

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

Cochrane evidence based reviews: craniosynostosis radial aplasia syndrome

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Genetic Tests for Baller-Gerold Syndrome

Genetic tests related to Baller-Gerold Syndrome:

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

Sources

Anatomical Context for Baller-Gerold Syndrome

MalaCards organs/tissues related to Baller-Gerold Syndrome:

⁴²

Bone, Heart, Kidney

Sources

Publications for Baller-Gerold Syndrome

Articles related to Baller-Gerold Syndrome:

(show all 40)

#	Title	Authors	Year
1	Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. ( 25966250 )	Cao D.H....Ma X.W.	2015
2	Baller-Gerold syndrome associated with dextrocardia. ( 21614991 )	Ceylan A....Kirimi E.	2011
3	Baller-gerold syndrome a rare cause of heart-hand syndrome. ( 22347665 )	Gupta M.D....Tyagi S.	2011
4	Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. ( 20196403 )	Ozdemir O.M....Semerci C.N.	2009
5	A patient with Baller-Gerold syndrome and midline NK/T lymphoma. ( 19291770 )	Debeljak M....Jazbec J.	2009
6	Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. ( 19753208 )	Murthy J....Ramanan P.V.	2008
7	Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. ( 19966981 )	Lype M....Arun K.	2008
8	Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. ( 15964893 )	Van Maldergem L....Verloes A.	2006
9	Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. ( 15789214 )	Santos de Oliveira R....Renier D.	2006
10	Baller-Gerold syndrome after fetal exposure to sodium valproate. ( 15732083 )	de Oliveira R.S....Renier D.	2005
11	Expanding the phenotypic spectrum of the Baller-Gerold syndrome. ( 14577674 )	Temtamy S.A....Eid M.	2003
12	Baller-Gerold syndrome. ( 12557968 )	Anoop P....Sasidharan C.K.	2002
13	Another TWIST on Baller-Gerold syndrome. ( 11754069 )	Seto M.L....Cunningham M.L.	2001
14	TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. ( 9934984 )	Gripp K.W....Zackai E.H.	1999
15	A case of Baller-Gerold syndrome. ( 10327256 )	Markose G....Temple I.K.	1999
16	Baller-Gerold syndrome associated with congenital portal venous malformation. ( 9733037 )	Savarirayan R....Thompson E.	1998
17	Baller Gerold syndrome and Fanconi anaemia. ( 9450894 )	Quarrell O.W....Harrison C.J.	1998
18	Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. ( 9856554 )	Franceschini P....Restagno G.	1998
19	Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? ( 9786296 )	Golombek S.G....Truog W.E.	1998
20	Is there a Baller-Gerold syndrome? ( 8741920 )	COHEN M.M....Toriello H.V.	1996
21	A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. ( 8825173 )	Mihai M....Daniela L.	1996
22	Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )	Rossbach H.C....Barbosa J.L.	1996
23	Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. ( 8552221 )	Dunac A....Van Regemorter N.	1995
24	Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. ( 7606324 )	Preis S....GAPbel U.	1995
25	Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. ( 7957363 )	Ramos Fuentes F.J....Scott C.I.	1994
26	Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. ( 8160763 )	Farrell S.A....Lewis M.E.	1994
27	Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. ( 8349962 )	Duncan G.J....Latimer E.	1993
28	Further delineation of the Baller-Gerold syndrome. ( 8465861 )	Lin A.E....Mulvihill J.J.	1993
29	Baller-Gerold Syndrome ( 20301383 )	Pagon R.A....Stephens K.	1993
30	Baller-Gerold syndrome: a postmortem examination. ( 8291562 )	Nwokoro N.A....Barmada M.	1993
31	The Baller-Gerold syndrome. ( 1583650 )	Van Maldergem L....Gillerot Y.	1992
32	Baller-Gerold syndrome: case report and clinical and radiological review. ( 1536180 )	Dallapiccola B....Bertozzi V.	1992
33	Baller-Gerold syndrome associated with congenital hydrocephalus. ( 1951434 )	Lewis M.E....Paes B.A.	1991
34	The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. ( 2359099 )	Huson S.M....Winter R.M.	1990
35	Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). ( 2074565 )	Galea P....Tolmie J.L.	1990
36	Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. ( 2260585 )	Boudreaux J.M....Pelias M.Z.	1990
37	Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. ( 7315870 )	Pelias M.Z....Thurmon T.F.	1981
38	Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. ( 7363501 )	Anyane-Yeboa K....Bloom A.D.	1980
39	Craniosynostosis-radial aplasia: Baller-Gerold syndrome. ( 517480 )	Feingold M....COHEN M.M.	1979
40	Craniosynostosis--radial aplasia syndrome. ( 4820706 )	Greitzer LJ...Smith DW	1974

Sources

Genes for Baller-Gerold Syndrome

Genes related to Baller-Gerold Syndrome (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RECQL4	RecQ Like Helicase 4	Protein Coding	1713.71	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	15964893 20301383 10678659 (more) 12838562 12734318 20301415 18716613 19299466 17250975 17364146 15964893 16617241 19291770
2	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	26.77	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	11754069 9934984
3	DDX11	DEAD/H-Box Helicase 11	Protein Coding	16.66	DISEASES inferred ¹⁵
4	RECQL5	RecQ Like Helicase 5	Protein Coding	16.51	DISEASES inferred ¹⁵
5	WRN	Werner Syndrome RecQ Like Helicase	Protein Coding	16.19	DISEASES inferred ¹⁵
6	RECQL	RecQ Like Helicase	Protein Coding	16.16	DISEASES inferred ¹⁵
7	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	15.78	DISEASES inferred ¹⁵
8	TWNK	Twinkle MtDNA Helicase	Protein Coding	15.67	DISEASES inferred ¹⁵
9	SALL1	Spalt Like Transcription Factor 1	Protein Coding	14.9	DISEASES inferred ¹⁵
10	AURKB	Aurora Kinase B	Protein Coding	14.19	DISEASES inferred ¹⁵
11	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	14.17	DISEASES inferred ¹⁵
12	TERT	Telomerase Reverse Transcriptase	Protein Coding	13.21	DISEASES inferred ¹⁵
13	LRRC14	Leucine Rich Repeat Containing 14	Protein Coding	10.29	GeneCards inferred via : Variants (show sections)
14	MFSD3	Major Facilitator Superfamily Domain Containing 3	Protein Coding	9.48	GeneCards inferred via : Variants (show sections)

Sources

Variations for Baller-Gerold Syndrome

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.1685G> A (p.Arg562Gln)	single nucleotide variant	Uncertain significance	rs375562152	GRCh37	Chromosome 8, 145739845: 145739845
2	RECQL4	NM_004260.3(RECQL4): c.1685G> A (p.Arg562Gln)	single nucleotide variant	Uncertain significance	rs375562152	GRCh38	Chromosome 8, 144514461: 144514461
3	RECQL4	NM_004260.3(RECQL4): c.1704+9C> T	single nucleotide variant	Benign/Likely benign	rs35876881	GRCh37	Chromosome 8, 145739817: 145739817
4	RECQL4	NM_004260.3(RECQL4): c.1704+9C> T	single nucleotide variant	Benign/Likely benign	rs35876881	GRCh38	Chromosome 8, 144514433: 144514433
5	RECQL4	NM_004260.3(RECQL4): c.1872C> T (p.Val624=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201815449	GRCh37	Chromosome 8, 145739579: 145739579
6	RECQL4	NM_004260.3(RECQL4): c.1872C> T (p.Val624=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201815449	GRCh38	Chromosome 8, 144514195: 144514195
7	RECQL4	NM_004260.3(RECQL4): c.1954G> A (p.Val652Met)	single nucleotide variant	Benign/Likely benign	rs61754061	GRCh37	Chromosome 8, 145739416: 145739416
8	RECQL4	NM_004260.3(RECQL4): c.1954G> A (p.Val652Met)	single nucleotide variant	Benign/Likely benign	rs61754061	GRCh38	Chromosome 8, 144514032: 144514032
9	RECQL4	NM_004260.3(RECQL4): c.2538A> G (p.Val846=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs746303718	GRCh37	Chromosome 8, 145738447: 145738447
10	RECQL4	NM_004260.3(RECQL4): c.2538A> G (p.Val846=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs746303718	GRCh38	Chromosome 8, 144513064: 144513064
11	RECQL4	NM_004260.3(RECQL4): c.2953G> A (p.Val985Met)	single nucleotide variant	Likely benign	rs200629599	GRCh37	Chromosome 8, 145737877: 145737877
12	RECQL4	NM_004260.3(RECQL4): c.2953G> A (p.Val985Met)	single nucleotide variant	Likely benign	rs200629599	GRCh38	Chromosome 8, 144512494: 144512494
13	RECQL4	NM_004260.3(RECQL4): c.275C> T (p.Pro92Leu)	single nucleotide variant	Benign	rs200516441	GRCh37	Chromosome 8, 145742513: 145742513
14	RECQL4	NM_004260.3(RECQL4): c.275C> T (p.Pro92Leu)	single nucleotide variant	Benign	rs200516441	GRCh38	Chromosome 8, 144517129: 144517129
15	RECQL4	NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs)	deletion	Pathogenic	rs746636748	GRCh37	Chromosome 8, 145741454: 145741455
16	RECQL4	NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs)	deletion	Pathogenic	rs746636748	GRCh38	Chromosome 8, 144516070: 144516071
17	RECQL4	NM_004260.3(RECQL4): c.543G> A (p.Gln181=)	single nucleotide variant	Benign/Likely benign	rs34159914	GRCh37	Chromosome 8, 145741960: 145741960
18	RECQL4	NM_004260.3(RECQL4): c.543G> A (p.Gln181=)	single nucleotide variant	Benign/Likely benign	rs34159914	GRCh38	Chromosome 8, 144516576: 144516576
19	RECQL4	NM_004260.3(RECQL4): c.1395G> A (p.Thr465=)	single nucleotide variant	Benign	rs34948955	GRCh37	Chromosome 8, 145740622: 145740622
20	RECQL4	NM_004260.3(RECQL4): c.1395G> A (p.Thr465=)	single nucleotide variant	Benign	rs34948955	GRCh38	Chromosome 8, 144515238: 144515238
21	RECQL4	NM_004260.3(RECQL4): c.1391-4G> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs190388213	GRCh37	Chromosome 8, 145740630: 145740630
22	RECQL4	NM_004260.3(RECQL4): c.1391-4G> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs190388213	GRCh38	Chromosome 8, 144515246: 144515246
23	RECQL4	NM_004260.3(RECQL4): c.1649C> T (p.Ala550Val)	single nucleotide variant	Uncertain significance	rs764297840	GRCh37	Chromosome 8, 145739881: 145739881
24	RECQL4	NM_004260.3(RECQL4): c.1649C> T (p.Ala550Val)	single nucleotide variant	Uncertain significance	rs764297840	GRCh38	Chromosome 8, 144514497: 144514497
25	RECQL4	NM_004260.3(RECQL4): c.1028C> T (p.Pro343Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs549381989	GRCh37	Chromosome 8, 145741475: 145741475
26	RECQL4	NM_004260.3(RECQL4): c.1028C> T (p.Pro343Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs549381989	GRCh38	Chromosome 8, 144516091: 144516091
27	RECQL4	NM_004260.3(RECQL4): c.929C> T (p.Pro310Leu)	single nucleotide variant	Uncertain significance	rs368504960	GRCh38	Chromosome 8, 144516190: 144516190
28	RECQL4	NM_004260.3(RECQL4): c.929C> T (p.Pro310Leu)	single nucleotide variant	Uncertain significance	rs368504960	GRCh37	Chromosome 8, 145741574: 145741574
29	RECQL4	NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)	single nucleotide variant	Pathogenic	rs137853229	GRCh37	Chromosome 8, 145738796: 145738796
30	RECQL4	NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)	single nucleotide variant	Pathogenic	rs137853229	GRCh38	Chromosome 8, 144513412: 144513412
31	RECQL4	NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs)	deletion	Pathogenic	rs752729755	GRCh37	Chromosome 8, 145738492: 145738493
32	RECQL4	NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs)	deletion	Pathogenic	rs752729755	GRCh38	Chromosome 8, 144513109: 144513110
33	RECQL4	NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)	deletion	Pathogenic	rs386833845	GRCh37	Chromosome 8, 145740367: 145740367
34	RECQL4	NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)	deletion	Pathogenic	rs386833845	GRCh38	Chromosome 8, 144514983: 144514983
35	RECQL4	NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)	single nucleotide variant	Pathogenic	rs137853232	GRCh37	Chromosome 8, 145737702: 145737702
36	RECQL4	NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)	single nucleotide variant	Pathogenic	rs137853232	GRCh38	Chromosome 8, 144512319: 144512319
37	RECQL4	NM_004260.3(RECQL4): c.3056-2A> C	single nucleotide variant	Pathogenic	rs786200889	GRCh37	Chromosome 8, 145737709: 145737709
38	RECQL4	NM_004260.3(RECQL4): c.3056-2A> C	single nucleotide variant	Pathogenic	rs786200889	GRCh38	Chromosome 8, 144512326: 144512326
39	RECQL4	NM_004260.3(RECQL4): c.1397C> T (p.Pro466Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs386833844	GRCh37	Chromosome 8, 145740620: 145740620
40	RECQL4	NM_004260.3(RECQL4): c.1397C> T (p.Pro466Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs386833844	GRCh38	Chromosome 8, 144515236: 144515236
41	RECQL4	NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu)	single nucleotide variant	Uncertain significance	rs386833850	GRCh37	Chromosome 8, 145739064: 145739064
42	RECQL4	NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu)	single nucleotide variant	Uncertain significance	rs386833850	GRCh38	Chromosome 8, 144513680: 144513680
43	RECQL4	NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)	single nucleotide variant	Pathogenic	rs386833851	GRCh37	Chromosome 8, 145738509: 145738509
44	RECQL4	NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)	single nucleotide variant	Pathogenic	rs386833851	GRCh38	Chromosome 8, 144513126: 144513126
45	RECQL4	NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs)	deletion	Pathogenic	rs386833852	GRCh37	Chromosome 8, 145737691: 145737691
46	RECQL4	NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs)	deletion	Pathogenic	rs386833852	GRCh38	Chromosome 8, 144512308: 144512308
47	RECQL4	NM_004260.3(RECQL4): c.1124G> A (p.Arg375His)	single nucleotide variant	Uncertain significance	rs398124115	GRCh37	Chromosome 8, 145741379: 145741379
48	RECQL4	NM_004260.3(RECQL4): c.1124G> A (p.Arg375His)	single nucleotide variant	Uncertain significance	rs398124115	GRCh38	Chromosome 8, 144515995: 144515995
49	RECQL4	NM_004260.3(RECQL4): c.1936C> T (p.Arg646Cys)	single nucleotide variant	Uncertain significance	rs398124116	GRCh37	Chromosome 8, 145739434: 145739434
50	RECQL4	NM_004260.3(RECQL4): c.1936C> T (p.Arg646Cys)	single nucleotide variant	Uncertain significance	rs398124116	GRCh38	Chromosome 8, 144514050: 144514050

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Expression for Baller-Gerold Syndrome

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

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Pathways for Baller-Gerold Syndrome

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

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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	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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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Baller-Gerold Syndrome (BGS)

Aliases & Classifications for Baller-Gerold Syndrome

MalaCards integrated aliases for Baller-Gerold Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Baller-Gerold Syndrome

Related Diseases for Baller-Gerold Syndrome

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

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

Symptoms & Phenotypes for Baller-Gerold Syndrome

Human phenotypes related to Baller-Gerold Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

Drugs & Therapeutics 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:

Anatomical Context for Baller-Gerold Syndrome

MalaCards organs/tissues related to Baller-Gerold Syndrome:

Publications for Baller-Gerold Syndrome

Articles related to Baller-Gerold Syndrome:

Genes for Baller-Gerold Syndrome

Genes related to Baller-Gerold Syndrome (1 elite genes):

Variations for Baller-Gerold Syndrome

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

ClinVar genetic disease variations for Baller-Gerold Syndrome:

Expression for Baller-Gerold Syndrome

Pathways for Baller-Gerold Syndrome

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

GO Terms for Baller-Gerold Syndrome

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

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

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

Sources for Baller-Gerold Syndrome