Bent Bone Dysplasia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BBDS MCID: BNT003 MIFTS: 41	Bent Bone Dysplasia Syndrome (BBDS) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Bent Bone Dysplasia Syndrome

MalaCards integrated aliases for Bent Bone Dysplasia Syndrome:

Name: Bent Bone Dysplasia Syndrome ⁵⁸ ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Bbds ⁵⁸ ⁷⁶

Perinatal Lethal Bent Bone Dysplasia ⁶⁰

Fgfr2-Related Bent Bone Dysplasia ⁶⁰

Bent Bone Dysplasia -Fgfr2 Type ⁵⁴

Dysplasia, Bent Bone Syndrome ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

fgfr2-related bent bone dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

bent bone dysplasia syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Ear diseases Oral diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 614592

MeSH ⁴⁵ D001848

Orphanet ⁶⁰ ORPHA313855

MedGen ⁴³ C3281247

UMLS ⁷⁴ C3281247

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Summaries for Bent Bone Dysplasia Syndrome

NIH Rare Diseases : ⁵⁴ Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with mutations in the FGFR2 gene.

MalaCards based summary : Bent Bone Dysplasia Syndrome, also known as bbds, is related to breast disease and breast cancer. An important gene associated with Bent Bone Dysplasia Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Pathways in cancer and MAPK signaling pathway. Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : ⁷⁶ Bent bone dysplasia syndrome: A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.

Description from OMIM: 614592

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Related Diseases for Bent Bone Dysplasia Syndrome

Diseases related to Bent Bone Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	breast disease	10.2
2	breast cancer	10.0
3	multiple sclerosis	10.0
4	myeloma, multiple	10.0
5	miliary tuberculosis	10.0
6	estrogen-receptor positive breast cancer	9.8	ERBB2 FGFR2
7	endometrial adenocarcinoma	9.8	ERBB2 FGFR2
8	adenocarcinoma	9.8	ERBB2 FGFR2
9	uterine carcinosarcoma	9.7	ERBB2 FGFR2
10	gastric adenocarcinoma	9.7	ERBB2 FGFR2
11	squamous cell carcinoma	9.7	ERBB2 FGFR2
12	glioblastoma	9.6	ERBB2 FGFR2
13	endometrial cancer	9.5	ERBB2 FGFR2

Graphical network of the top 20 diseases related to Bent Bone Dysplasia Syndrome:

Sources

Symptoms & Phenotypes for Bent Bone Dysplasia Syndrome

Human phenotypes related to Bent Bone Dysplasia Syndrome:

⁶⁰ ³³ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	low-set ears ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000369
3	osteopenia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000938
4	gingival overgrowth ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000212
5	micrognathia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000347
6	megalocornea ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000485
7	coronal craniosynostosis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0004440
8	brachydactyly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001156
9	midface retrusion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011800
10	congenital stationary night blindness ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007642
11	decreased calvarial ossification ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005474
12	short clavicles ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000894
13	hypoplastic ischia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003175
14	bell-shaped thorax ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001591
15	hirsutism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001007
16	natal tooth ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000695
17	extramedullary hematopoiesis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001978
18	overfolding of the superior helices ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0004453
19	steep acetabular roof ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0010455
20	metopic depression ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011223
21	incomplete ossification of pubis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0030042
22	abnormality of the periosteum ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0040166
23	clitoral hypertrophy ³³	hallmark (90%)		HP:0008665
24	hepatosplenomegaly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001433
25	bowing of the legs ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002979
26	malar flattening ³³			HP:0000272
27	abnormality of the lower limb ⁶⁰		Occasional (29-5%)
28	clitoromegaly ⁶⁰		Very frequent (99-80%)
29	abnormality of the outer ear ⁶⁰		Very frequent (99-80%)
30	abnormally large globe ³³			HP:0001090

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
megalophthalmos

Head And Neck Face:
micrognathia
midface hypoplasia

Skeletal Hands:
brachydactyly
areas of periosteal reaction
areas of deficient ossification

Chest External Features:
bell-shaped thorax

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic clavicles
decreased mineralization of inferior margin of scapula

Head And Neck Head:
open metopic suture

Abdomen Liver:
hepatosplenomegaly (rare)

Skeletal Pelvis:
narrow acetabular roof
narrowed ischia
decreased mineralization of pubis

Hematology:
hepatosplenomegaly, with extramedullary hematopoiesis (rare)

Head And Neck Ears:
low-set ears
overfolded superior helix
deficient auricle

Skeletal Skull:
coronal craniosynostosis
diminished mineralization of the calvarium

Genitourinary External Genitalia Female:
clitoromegaly

Skin Nails Hair Hair:
hirsutism

Head And Neck Mouth:
gingival hyperplasia

Head And Neck Teeth:
prenatal teeth

Abdomen Spleen:
hepatosplenomegaly (rare)

Skeletal Limbs:
bending of long bones to varying degrees, particularly femora
prominent periosteum

Clinical features from OMIM:

614592

GenomeRNAi Phenotypes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance	GR00210-A	8.62	ERBB2 FGFR2

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Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Bent Bone Dysplasia Syndrome

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Genetic Tests for Bent Bone Dysplasia Syndrome

Genetic tests related to Bent Bone Dysplasia Syndrome:

#	Genetic test	Affiliating Genes
1	Bent Bone Dysplasia Syndrome ³⁰	FGFR2

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Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

⁴²

Bone, Eye

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Publications for Bent Bone Dysplasia Syndrome

Articles related to Bent Bone Dysplasia Syndrome:

#	Title	Authors	Year
1	FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. ( 28595297 )	Neben C.L....Merrill A.E.	2017
2	Cyclohexenylboration of Aldehydes and Ketones with the Borabicyclo[3.3.2]decanes (BBDs). ( 26284657 )	Gonz?lez E...Soderquist JA	2015
3	Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. ( 24908667 )	Neben C.L....Merrill A.E.	2014
4	(E)-2-boryl 1,3-dienes from the 10-TMS-9-BBDs: highly selective reagents for the asymmetric synthesis of anti-α,β-disubstituted β-allenylamines from the allylboration of aldimines. ( 25003976 )	Gonz?lez JR...Soderquist JA	2014
5	(E)-2-boryl-1,3-butadiene derivatives of the 10-TMS-9-BBDs: highly selective reagents for the asymmetric synthesis of anti-1,2-disubstituted 3,4-pentadien-1-ols. ( 19580266 )	Gonz?lez JR...Soderquist JA	2009

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Genes for Bent Bone Dysplasia Syndrome

Genes related to Bent Bone Dysplasia Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1687.49	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Variants (show sections)	22387015
2	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	17.25	GeneCards inferred via : Publications (show sections)

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Variations for Bent Bone Dysplasia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bent Bone Dysplasia Syndrome:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	FGFR2	p.Tyr381Asp	VAR_067977	rs387906678
2	FGFR2	p.Met391Arg	VAR_067978	rs387906677

ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FGFR2	NM_000141.4(FGFR2): c.1172T> G (p.Met391Arg)	single nucleotide variant	Pathogenic	rs387906677	GRCh37	Chromosome 10, 123274746: 123274746
2	FGFR2	NM_000141.4(FGFR2): c.1172T> G (p.Met391Arg)	single nucleotide variant	Pathogenic	rs387906677	GRCh38	Chromosome 10, 121515232: 121515232
3	FGFR2	NM_000141.4(FGFR2): c.1141T> G (p.Tyr381Asp)	single nucleotide variant	Pathogenic	rs387906678	GRCh37	Chromosome 10, 123274777: 123274777
4	FGFR2	NM_000141.4(FGFR2): c.1141T> G (p.Tyr381Asp)	single nucleotide variant	Pathogenic	rs387906678	GRCh38	Chromosome 10, 121515263: 121515263

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Expression for Bent Bone Dysplasia Syndrome

Search GEO for disease gene expression data for Bent Bone Dysplasia Syndrome.

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Pathways for Bent Bone Dysplasia Syndrome

Pathways related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁸	12.27	ERBB2 FGFR2
2	MAPK signaling pathway ¹ ³⁸	12.18	ERBB2 FGFR2
3	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.16	ERBB2 FGFR2
4	Glioma ³⁸ Show member pathways Endocrine resistance ³⁸ Melanoma ³⁸ Non-small cell lung cancer ³⁸ Signaling Pathways in Glioblastoma ¹	12.12	ERBB2 FGFR2
5	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.12	ERBB2 FGFR2
6	mTOR signaling pathway (KEGG) ⁶⁶ Show member pathways mTOR signaling pathway ³⁸	11.9	ERBB2 FGFR2
7	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	11.83	ERBB2 FGFR2
8	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	11.74	ERBB2 FGFR2
9	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	11.55	ERBB2 FGFR2
10	AKT Signaling Pathway ⁶⁸	11.41	ERBB2 FGFR2
11	Tyrosine Kinases / Adaptors ⁴	11.33	ERBB2 FGFR2
12	G-protein signaling_RhoA regulation pathway ²³	11.15	ERBB2 FGFR2
13	G-protein signaling_Cross-talk between Ras-family GTPases ²³	10.78	ERBB2 FGFR2
14	Central carbon metabolism in cancer ³⁸	10.77	ERBB2 FGFR2
15	G-protein signaling_Rap2B regulation pathway ²³	10.46	ERBB2 FGFR2
16	Alzheimers Disease Pathway ⁶⁵	10.28	ERBB2 FGFR2

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GO Terms for Bent Bone Dysplasia Syndrome

Cellular components related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	receptor complex	GO:0043235	8.62	ERBB2 FGFR2

Biological processes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	MAPK cascade	GO:0000165	9.46	ERBB2 FGFR2
2	peptidyl-tyrosine phosphorylation	GO:0018108	9.43	ERBB2 FGFR2
3	protein autophosphorylation	GO:0046777	9.4	ERBB2 FGFR2
4	positive regulation of protein kinase B signaling	GO:0051897	9.37	ERBB2 FGFR2
5	positive regulation of MAPK cascade	GO:0043410	9.32	ERBB2 FGFR2
6	phosphatidylinositol phosphorylation	GO:0046854	9.26	ERBB2 FGFR2
7	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.18	FGFR2
8	wound healing	GO:0042060	9.16	ERBB2 FGFR2
9	positive regulation of epithelial cell proliferation	GO:0050679	8.96	ERBB2 FGFR2
10	regulation of ERK1 and ERK2 cascade	GO:0070372	8.62	ERBB2 FGFR2

Molecular functions related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase activity	GO:0004672	9.4	ERBB2 FGFR2
2	nucleotide binding	GO:0000166	9.37	ERBB2 FGFR2
3	protein tyrosine kinase activity	GO:0004713	9.26	ERBB2 FGFR2
4	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.16	ERBB2 FGFR2
5	transmembrane signaling receptor activity	GO:0004888	9.02	ERBB2
6	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	8.96	ERBB2 FGFR2
7	transmembrane receptor protein tyrosine kinase activity	GO:0004714	8.62	ERBB2 FGFR2

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Sources for Bent Bone Dysplasia Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bent Bone Dysplasia Syndrome (BBDS)

Aliases & Classifications for Bent Bone Dysplasia Syndrome

MalaCards integrated aliases for Bent Bone Dysplasia Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bent Bone Dysplasia Syndrome

Related Diseases for Bent Bone Dysplasia Syndrome

Diseases related to Bent Bone Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Bent Bone Dysplasia Syndrome:

Symptoms & Phenotypes for Bent Bone Dysplasia Syndrome

Human phenotypes related to Bent Bone Dysplasia Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

Genetic Tests for Bent Bone Dysplasia Syndrome

Genetic tests related to Bent Bone Dysplasia Syndrome:

Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

Publications for Bent Bone Dysplasia Syndrome

Articles related to Bent Bone Dysplasia Syndrome:

Genes for Bent Bone Dysplasia Syndrome

Genes related to Bent Bone Dysplasia Syndrome (1 elite genes):

Variations for Bent Bone Dysplasia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bent Bone Dysplasia Syndrome:

ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome:

Expression for Bent Bone Dysplasia Syndrome

Pathways for Bent Bone Dysplasia Syndrome

Pathways related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

GO Terms for Bent Bone Dysplasia Syndrome

Cellular components related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

Sources for Bent Bone Dysplasia Syndrome