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

BBDS MCID: BNT003 MIFTS: 43	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 ⁵⁶ ⁵² ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Bbds ⁵⁶ ⁷³

Perinatal Lethal Bent Bone Dysplasia ⁵⁸

Fgfr2-Related Bent Bone Dysplasia ⁵⁸

Bent Bone Dysplasia -Fgfr2 Type ⁵²

Dysplasia, Bent Bone Syndrome ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

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: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 614592

MeSH ⁴³ D001848

Orphanet ⁵⁸ ORPHA313855

MedGen ⁴¹ C3281247

UMLS ⁷¹ C3281247

Sources

Summaries for Bent Bone Dysplasia Syndrome

NIH Rare Diseases : ⁵² Bent bone dysplasia syndrome is 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 rhinitis. An important gene associated with Bent Bone Dysplasia Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Pathways in cancer. Affiliated tissues include bone, breast and eye, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : ⁷³ 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.

More information 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 21)

#	Related Disease	Score	Top Affiliating Genes
1	breast disease	10.4
2	rhinitis	10.3
3	atrophic rhinitis	10.3
4	campomelic dysplasia and related disorders	10.2
5	myeloma, multiple	10.1
6	prenatal bowing	10.1
7	breast fibroadenoma	10.1
8	craniosynostosis	10.1
9	in situ carcinoma	10.1
10	miliary tuberculosis	10.1
11	apocrine adenosis of breast	9.7	FGFR2 ERBB2
12	endometrial adenocarcinoma	9.7	FGFR2 ERBB2
13	adenocarcinoma	9.6	FGFR2 ERBB2
14	estrogen-receptor positive breast cancer	9.6	FGFR2 ERBB2
15	intrahepatic cholangiocarcinoma	9.6	FGFR2 ERBB2
16	cholangiocarcinoma	9.6	FGFR2 ERBB2
17	rare cancer of corpus uteri	9.6	FGFR2 ERBB2
18	uterine carcinosarcoma	9.5	FGFR2 ERBB2
19	squamous cell carcinoma	9.5	FGFR2 ERBB2
20	gastric adenocarcinoma	9.4	FGFR2 ERBB2
21	thyroid gland cancer	9.2	FGFR2 ERBB2

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:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	low-set ears ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000369
3	osteopenia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000938
4	gingival overgrowth ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000212
5	brachydactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001156
6	micrognathia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000347
7	midface retrusion ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011800
8	megalocornea ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000485
9	coronal craniosynostosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004440
10	congenital stationary night blindness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007642
11	decreased calvarial ossification ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005474
12	short clavicles ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000894
13	hypoplastic ischia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003175
14	bell-shaped thorax ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001591
15	hirsutism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001007
16	natal tooth ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000695
17	extramedullary hematopoiesis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001978
18	overfolding of the superior helices ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004453
19	steep acetabular roof ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010455
20	metopic depression ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011223
21	incomplete ossification of pubis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0030042
22	abnormality of the periosteum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0040166
23	clitoral hypertrophy ³¹	hallmark (90%)		HP:0008665
24	hepatosplenomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001433
25	bowing of the legs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002979
26	malar flattening ³¹			HP:0000272
27	clitoromegaly ⁵⁸		Very frequent (99-80%)
28	abnormality of the lower limb ⁵⁸		Occasional (29-5%)
29	abnormally large globe ³¹			HP:0001090
30	abnormality of the outer ear ⁵⁸		Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
megalophthalmos

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

Skeletal Skull:
coronal craniosynostosis
diminished mineralization of the calvarium

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

Head And Neck Face:
micrognathia
midface hypoplasia

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:

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

Sources

Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

⁴⁰

Bone, Breast, Eye, Brain, Heart, Thyroid

Sources

Publications for Bent Bone Dysplasia Syndrome

Articles related to Bent Bone Dysplasia Syndrome:

(show all 34)

#	Title	Authors	PMID	Year
1	Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. ⁵⁶ ⁶	Merrill AE...Krakow D	22387015	2012
2	Fiberoptic Bronchoscopic Balloon Dilatation of Bronchial Stenosis in Children. ⁶¹	Kose M...Narin N	30829897	2019
3	Nuclear FGFR2 regulates musculoskeletal integration within the developing limb. ⁶¹	Salva JE...Merrill AE	30620790	2019
4	Single brand, fully-covered, self-expandable metal stent for the treatment of benign biliary disease: when should stents be removed? ⁶¹	Mangiavillano B...Repici A	29856174	2019
5	Factors influencing disability in patients with chronic low back pain attending a tertiary hospital in sub-Saharan Africa. ⁶¹	Doualla M...Chichom AM	30646894	2019
6	Blood-borne and sexually transmitted infections: a cross-sectional study in a Swiss prison. ⁶¹	Chacowry Pala K...Getaz L	30373535	2018
7	An efficient biomarker panel for diagnosis of breast cancer using surface-enhanced laser desorption ionization time-of-flight mass spectrometry. ⁶¹	Yigitbasi T...Baskin Y	29456844	2018
8	FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. ⁶¹	Neben CL...Merrill AE	28595297	2017
9	Biomarkers expression in benign breast diseases and risk of subsequent breast cancer: a case-control study. ⁶¹	Posso M...BELE Study Group	28470951	2017
10	Continuous-Flow O-Alkylation of Biobased Derivatives with Dialkyl Carbonates in the Presence of Magnesium-Aluminium Hydrotalcites as Catalyst Precursors. ⁶¹	Cattelan L...Selva M	28140521	2017
11	Cyclohexenylboration of Aldehydes and Ketones with the Borabicyclo[3.3.2]decanes (BBDs). ⁶¹	Gonzalez E...Soderquist JA	26284657	2015
12	Endoscopic treatment of nonstricture-related benign biliary diseases using covered self-expandable metal stents. ⁶¹	Irani S...Kozarek RA	25521570	2015
13	Positive Association of Fibroadenomatoid Change with HER2-Negative Invasive Breast Cancer: A Co-Occurrence Study. ⁶¹	Chen Y...Hu H	26098961	2015
14	Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. ⁶¹	Neben CL...Merrill AE	24908667	2014
15	(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. ⁶¹	Gonzalez JR...Soderquist JA	25003976	2014
16	Molecular dynamics analysis of the interaction between the human BCL6 BTB domain and its SMRT, NcoR and BCOR corepressors: the quest for a consensus dynamic pharmacophore. ⁶¹	Granadino-Roldan JM...Rubio-Martinez J	24793055	2014
17	[Effects of mechanical transplanting of rice with controlled release bulk blending fertilizer on rice yield and soil fertility]. ⁶¹	Zhang X...Wu LH	24984497	2014
18	Breast-feeding and benign breast disease. ⁶¹	Bernardi S...Petri R	22185539	2012
19	Benign breast lesions in an African population: A 25-year histopathological review of 1864 cases. ⁶¹	Olu-Eddo AN...Ugiagbe EE	22529500	2011
20	Optimisation of ultra-performance LC conditions using response surface methodology for rapid separation and quantitative determination of phenolic compounds in Artemisia minor. ⁶¹	Zhou Y...Xu HX	21140416	2010
21	(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. ⁶¹	Gonzalez JR...Soderquist JA	19580266	2009
22	History of benign breast disease and risk of breast cancer among women in China: a case-control study. ⁶¹	Dorjgochoo T...Shu XO	18347922	2008
23	Enzymatic characterization of peroxisomal and cytosolic betaine aldehyde dehydrogenases in barley. ⁶¹	Fujiwara T...Takabe T	18429940	2008
24	Learning in and from brain-based devices. ⁶¹	Edelman GM	18006739	2007
25	[Biliary stent placement for postoperative benign bile duct stenosis: personal experience]. ⁶¹	Sciume C...Modica G	16910355	2006
26	Asymmetric allyl- and crotylboration with the robust, versatile, and recyclable 10-TMS-9-borabicyclo[3.3.2]decanes. ⁶¹	Burgos CH...Soderquist JA	15926828	2005
27	Brain-based devices for the study of nervous systems and the development of intelligent machines. ⁶¹	Krichmar JL...Edelman GM	15811220	2005
28	Reliability and validity of the brief behavioral distress scale: a measure of children's distress during invasive medical procedures. ⁶¹	Tucker CL...Dahlquist LM	11700336	2001
29	The ultraflex diamond stent for benign biliary obstruction. ⁶¹	Dumonceau JM...Deviere J	10390334	1999
30	Plastic and metal stents for postoperative benign bile duct strictures: the best and the worst. ⁶¹	Dumonceau JM...Cremer M	9468417	1998
31	Improved cytosolic free calcium mobilization and superoxide production in bicarbonate-based peritoneal dialysis solution. ⁶¹	Dobos GJ...Bohler J	9175052	1997
32	From sticky stuff to sweet receptors--achievements, limits and novel approaches to bioadhesion. ⁶¹	Lehr CM	8839687	1996
33	Bicarbonate-based dialysis solution preserves granulocyte functions. ⁶¹	Dobos GJ...Schollmeyer PJ	7827187	1994
34	A mathematical model for analyzing beat-to-beat difference in the human fetal heart rate during gestation and labor. ⁶¹	Koyanagi T...Nakano H	3346088	1988

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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	1678.37	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	22387015
2	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	7.22	GeneCards inferred via : Publications (show sections)

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Variations for Bent Bone Dysplasia Syndrome

ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome:

⁶ (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FGFR2	NM_022970.3(FGFR2):c.1087+1304G>A	SNV	Pathogenic	13263	rs121918487	10:123276892-123276892	10:121517378-121517378
2	FGFR2	NM_022970.3(FGFR2):c.1087+1311G>A	SNV	Pathogenic	13268	rs121918491	10:123276885-123276885	10:121517371-121517371
3	FGFR2	NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp)	SNV	Pathogenic	13272	rs79184941	10:123279677-123279677	10:121520163-121520163
4	FGFR2	NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg)	SNV	Pathogenic	13273	rs77543610	10:123279674-123279674	10:121520160-121520160
5	FGFR2	NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys)	SNV	Pathogenic	13277	rs121913478	10:123274794-123274794	10:121515280-121515280
6	FGFR2	NM_022970.3(FGFR2):c.1175T>G (p.Met392Arg)	SNV	Pathogenic	29855	rs387906677	10:123274746-123274746	10:121515232-121515232
7	FGFR2	NM_022970.3(FGFR2):c.1144T>G (p.Tyr382Asp)	SNV	Pathogenic	29856	rs387906678	10:123274777-123274777	10:121515263-121515263
8	FGFR2	NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys)	SNV	Pathogenic	449024	rs1434545235	10:123325014-123325014	10:121565500-121565500
9	FGFR2	NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg)	SNV	Pathogenic	478046	rs1554927408	10:123274768-123274768	10:121515254-121515254
10	FGFR2	NM_022970.3(FGFR2):c.1087+1292G>A	SNV	Pathogenic/Likely pathogenic	374817	rs1057519044	10:123276904-123276904	10:121517390-121517390
11	FGFR2	NM_022970.3(FGFR2):c.1087+1268G>A	SNV	Uncertain significance	577711	rs199757302	10:123276928-123276928	10:121517414-121517414

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

⁷³

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

Sources

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 15)

#	Super pathways	Score	Top Affiliating Genes
1	Actin Nucleation by ARP-WASP Complex ⁶³ Show member pathways Actin Nucleation and Branching ⁶³ CDC42 Pathway ⁶³ RhoA Pathway ⁶³	12.37	FGFR2 ERBB2
2	Pathways in cancer ³⁶	12.27	FGFR2 ERBB2
3	MAPK signaling pathway ³⁶ ¹	12.18	FGFR2 ERBB2
4	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.16	FGFR2 ERBB2
5	Downstream signaling events of B Cell Receptor (BCR) ⁶⁵ Show member pathways Activation of RAS in B cells ⁶⁵ Signaling by the B Cell Receptor (BCR) ⁶⁵	12.12	FGFR2 ERBB2
6	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.05	FGFR2 ERBB2
7	ErbB signaling pathway ¹ ³⁶ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	11.99	FGFR2 ERBB2
8	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	11.82	FGFR2 ERBB2
9	mTOR signaling pathway (KEGG) ⁶⁴ Show member pathways mTOR signaling pathway ³⁶	11.79	FGFR2 ERBB2
10	Apoptosis Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ NF-kappaB Pathway ⁷⁰	11.68	FGFR2 ERBB2
11	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	11.55	FGFR2 ERBB2
12	Tyrosine Kinases / Adaptors ⁴	11.33	FGFR2 ERBB2
13	G-protein signaling_RhoA regulation pathway ²²	11.09	FGFR2 ERBB2
14	Central carbon metabolism in cancer ³⁶	10.79	FGFR2 ERBB2
15	Alzheimers Disease Pathway ⁶³	10.28	FGFR2 ERBB2

Sources

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	FGFR2 ERBB2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell proliferation	GO:0008284	9.48	FGFR2 ERBB2
2	MAPK cascade	GO:0000165	9.46	FGFR2 ERBB2
3	positive regulation of protein kinase B signaling	GO:0051897	9.43	FGFR2 ERBB2
4	protein autophosphorylation	GO:0046777	9.4	FGFR2 ERBB2
5	peptidyl-tyrosine phosphorylation	GO:0018108	9.37	FGFR2 ERBB2
6	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.32	FGFR2 ERBB2
7	positive regulation of MAPK cascade	GO:0043410	9.26	FGFR2 ERBB2
8	wound healing	GO:0042060	9.16	FGFR2 ERBB2
9	positive regulation of epithelial cell proliferation	GO:0050679	8.96	FGFR2 ERBB2
10	regulation of ERK1 and ERK2 cascade	GO:0070372	8.62	FGFR2 ERBB2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.16	FGFR2 ERBB2
2	protein tyrosine kinase activity	GO:0004713	8.96	FGFR2 ERBB2
3	transmembrane receptor protein tyrosine kinase activity	GO:0004714	8.62	FGFR2 ERBB2

Sources

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome:

UniProtKB/Swiss-Prot 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