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 ⁵⁷ ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Bbds ⁵⁷ ⁷⁵

Perinatal Lethal Bent Bone Dysplasia ⁵⁹

Fgfr2-Related Bent Bone Dysplasia ⁵⁹

Bent Bone Dysplasia -Fgfr2 Type ⁵³

Dysplasia, Bent Bone Syndrome ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 614592

Orphanet ⁵⁹ ORPHA313855

MedGen ⁴² C3281247

MeSH ⁴⁴ D001848

UMLS ⁷³ C3281247

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Summaries for Bent Bone Dysplasia Syndrome

NIH Rare Diseases : ⁵³ 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 myeloma, multiple. 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 Glioma. Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : ⁷⁵ 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 11)

#	Related Disease	Score	Top Affiliating Genes
1	breast disease	10.2
2	myeloma, multiple	10.0
3	miliary tuberculosis	10.0
4	estrogen-receptor positive breast cancer	9.9	ERBB2 FGFR2
5	endometrial adenocarcinoma	9.9	ERBB2 FGFR2
6	adenocarcinoma	9.8	ERBB2 FGFR2
7	uterine carcinosarcoma	9.8	ERBB2 FGFR2
8	gastric adenocarcinoma	9.8	ERBB2 FGFR2
9	squamous cell carcinoma	9.8	ERBB2 FGFR2
10	glioblastoma	9.8	ERBB2 FGFR2
11	endometrial cancer	9.7	ERBB2 FGFR2

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

Sources

Symptoms & Phenotypes for Bent Bone Dysplasia Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Head And Neck Mouth:
gingival hyperplasia

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

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

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

Human phenotypes related to Bent Bone Dysplasia Syndrome:

⁵⁹ ³² (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	low-set ears ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000369
3	osteopenia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000938
4	gingival overgrowth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000212
5	micrognathia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000347
6	megalocornea ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000485
7	coronal craniosynostosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004440
8	brachydactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001156
9	midface retrusion ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011800
10	congenital stationary night blindness ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007642
11	decreased calvarial ossification ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005474
12	short clavicles ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000894
13	hypoplastic ischia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003175
14	bell-shaped thorax ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001591
15	hepatosplenomegaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001433
16	hirsutism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001007
17	bowing of the legs ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002979
18	natal tooth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000695
19	extramedullary hematopoiesis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001978
20	overfolding of the superior helices ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004453
21	steep acetabular roof ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010455
22	metopic depression ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011223
23	incomplete ossification of pubis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0030042
24	abnormality of the periosteum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0040166
25	malar flattening ³²			HP:0000272
26	abnormality of the lower limb ⁵⁹		Occasional (29-5%)
27	clitoromegaly ⁵⁹		Very frequent (99-80%)
28	clitoral hypertrophy ³²	hallmark (90%)		HP:0008665
29	abnormality of the outer ear ⁵⁹		Very frequent (99-80%)
30	abnormally large globe ³²			HP:0001090

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

²⁶

#	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 ²⁹	FGFR2

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Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

⁴¹

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 )		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 )		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	1687.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	22387015
2	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	17.24	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:

⁷⁵

#	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 ³⁷	12.27	ERBB2 FGFR2
2	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.2	ERBB2 FGFR2
3	MAPK signaling pathway ³⁷ ¹	12.18	ERBB2 FGFR2
4	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.16	ERBB2 FGFR2
5	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.12	ERBB2 FGFR2
6	mTOR signaling pathway (KEGG) ⁶⁵ Show member pathways mTOR signaling pathway ³⁷	11.9	ERBB2 FGFR2
7	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	11.83	ERBB2 FGFR2
8	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	11.74	ERBB2 FGFR2
9	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.55	ERBB2 FGFR2
10	AKT Signaling Pathway ⁶⁷	11.41	ERBB2 FGFR2
11	Tyrosine Kinases / Adaptors ⁴	11.33	ERBB2 FGFR2
12	G-protein signaling_RhoA regulation pathway ²²	11.15	ERBB2 FGFR2
13	G-protein signaling_Cross-talk between Ras-family GTPases ²²	10.78	ERBB2 FGFR2
14	Central carbon metabolism in cancer ³⁷	10.77	ERBB2 FGFR2
15	G-protein signaling_Rap2B regulation pathway ²²	10.46	ERBB2 FGFR2
16	Alzheimers Disease Pathway ⁶⁴	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:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.49	ERBB2 FGFR2
2	MAPK cascade	GO:0000165	9.48	ERBB2 FGFR2
3	peptidyl-tyrosine phosphorylation	GO:0018108	9.46	ERBB2 FGFR2
4	protein autophosphorylation	GO:0046777	9.43	ERBB2 FGFR2
5	positive regulation of protein kinase B signaling	GO:0051897	9.4	ERBB2 FGFR2
6	positive regulation of MAPK cascade	GO:0043410	9.37	ERBB2 FGFR2
7	negative regulation of signal transduction	GO:0009968	9.32	ERBB2 FGFR2
8	phosphatidylinositol phosphorylation	GO:0046854	9.26	ERBB2 FGFR2
9	wound healing	GO:0042060	9.16	ERBB2 FGFR2
10	positive regulation of epithelial cell proliferation	GO:0050679	8.96	ERBB2 FGFR2
11	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	transmembrane signaling receptor activity	GO:0004888	9.32	ERBB2 FGFR2
4	protein tyrosine kinase activity	GO:0004713	9.26	ERBB2 FGFR2
5	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.16	ERBB2 FGFR2
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

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Bent Bone Dysplasia Syndrome:

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