BOOMD
MCID: BMR001
MIFTS: 34

Boomerang Dysplasia (BOOMD)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Boomerang Dysplasia

MalaCards integrated aliases for Boomerang Dysplasia:

Name: Boomerang Dysplasia 58 12 77 54 26 76 38 30 13 56 6 15 41 74
Dwarfism with Short, Bowed, Rigid Limbs and Characteristic Facies 54
Boomerang-Like Skeletal Dysplasia 54
Piepkorn Dysplasia 26
Boomd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
boomerang dysplasia:
Clinical modifier neonatal death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Boomerang Dysplasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1263Disease definitionBoomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.EpidemiologyThe prevalence of BD is unknown.Clinical descriptionAffected neonates are stillborn or die rapidly after birth and present clinically with severe short-limbed dwarfism, dislocated hip, knee and elbow joints, club feet and proviso born alive have severe cardio respiratory failure. Facial dysmorphism includes midface hypoplasia and cleft palate. Boomerang dysplasia clinically differs from AOI and AOIII because of the boomerang shaped bowing of the femur and occasionally observed encephalocele and omphalocele.EtiologyBD results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, normally expected to translate full length but biochemically abnormal filamin B protein.Diagnostic methodsDiagnosis can be confirmed from skeletal radiographs, chondro-osseous histopathology and genetic testing. Distinctive radiographic findings are similar to AOI but, BD presents with a more severe deficiency in mineralization, with non-ossification of certain segments of limbs and vertebrates, and a boomerang-like shape of some long tubular bones.Differential diagnosisComprises other skeletal dysplasias with severe short-limbed dwarfism such as achondrogenesis, campomelic dysplasia, Ellis-van Creveld syndrome, achondroplasia, metatropic dysplasia, Roberts syndrome, short rib-polydactyly syndrome and thanatophoric dysplasia. Additional differential diagnosis includes diseases associated with impaired ossification such achondrogenesis, hypophosphatasia, and osteogenesis imperfecta (see these terms).Antenatal diagnosisThe prenatal diagnosis of BD is difficult to ascertain by ultrasound. Ultrasound shows thoracic hypoplasia, limb shortening, delayed ossification of spine and appendicular segments and possibly joint dislocations, similar to AOI and AOIII. Boomerang-shape morphology some long tubular bones may be diagnosed prenatally by 3D-CT scan.PrognosisPrognosis is poor, as the condition is lethal in utero.Visit the Orphanet disease page for more resources.

MalaCards based summary : Boomerang Dysplasia, also known as dwarfism with short, bowed, rigid limbs and characteristic facies, is related to atelosteogenesis and atelosteogenesis, type i. An important gene associated with Boomerang Dysplasia is FLNB (Filamin B), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion. Affiliated tissues include bone, testes and lung, and related phenotypes are narrow chest and micromelia

Disease Ontology : 12 An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has material basis in heterozygous mutation in the FLNB gene on chromosome 3p14.

Genetics Home Reference : 26 Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.

UniProtKB/Swiss-Prot : 76 Boomerang dysplasia: A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments.

Wikipedia : 77 Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital... more...

Description from OMIM: 112310

Related Diseases for Boomerang Dysplasia

Diseases related to Boomerang Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 atelosteogenesis 30.3 FLNB IVD
2 atelosteogenesis, type i 11.6
3 larsen syndrome 11.2
4 dwarfism 10.2
5 otopalatodigital syndrome, type ii 10.0
6 melnick-needles syndrome 10.0
7 omphalocele 10.0
8 retinal vein occlusion 9.8 ITGA2 SERPINC1
9 hajdu-cheney syndrome 9.7 FLNB RUNX2
10 osteonecrosis 9.6 RUNX2 SERPINC1
11 scoliosis 9.5 FLNB RUNX2
12 spondylocarpotarsal synostosis syndrome 9.5 FLNB IVD RUNX2

Graphical network of the top 20 diseases related to Boomerang Dysplasia:



Diseases related to Boomerang Dysplasia

Symptoms & Phenotypes for Boomerang Dysplasia

Human phenotypes related to Boomerang Dysplasia:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 narrow chest 33 hallmark (90%) HP:0000774
2 micromelia 33 hallmark (90%) HP:0002983
3 abnormality of tibia morphology 33 hallmark (90%) HP:0002992
4 aplasia/hypoplasia of the fibula 33 hallmark (90%) HP:0006492
5 severe short-limb dwarfism 33 hallmark (90%) HP:0008890
6 growth hormone deficiency 33 hallmark (90%) HP:0000824
7 poorly ossified vertebrae 33 hallmark (90%) HP:0100856
8 finger syndactyly 33 frequent (33%) HP:0006101
9 aplasia/hypoplasia of the abdominal wall musculature 33 frequent (33%) HP:0010318
10 cryptorchidism 33 frequent (33%) HP:0000028
11 hydrops fetalis 33 frequent (33%) HP:0001789
12 abnormality of femur morphology 33 frequent (33%) HP:0002823
13 abnormality of the metacarpal bones 33 frequent (33%) HP:0001163
14 polyhydramnios 33 frequent (33%) HP:0001561
15 aplasia/hypoplasia of the lungs 33 frequent (33%) HP:0006703
16 omphalocele 33 frequent (33%) HP:0001539
17 abnormality of the radius 33 frequent (33%) HP:0002818
18 abnormality of the humerus 33 frequent (33%) HP:0003063
19 abnormality of the ulna 33 occasional (7.5%) HP:0002997
20 wide nasal bridge 33 HP:0000431
21 underdeveloped nasal alae 33 HP:0000430
22 severe short stature 33 HP:0003510
23 fibular aplasia 33 HP:0002990
24 absent radius 33 HP:0003974
25 hypoplastic nasal septum 33 HP:0005104
26 hypoplastic iliac body 33 HP:0008824

Symptoms via clinical synopsis from OMIM:

58
Misc:
neonatal death

Growth:
congential dwarfism

Radiology:
absent radii and fibulae with boomerang shaped remaining long bones
small iliac bodies
retarded ossification of lower spine and digits

Nose:
broad nasal root
hypoplastic nares and septum

Limbs:
short, bowed, rigid limbs

Clinical features from OMIM:

112310

MGI Mouse Phenotypes related to Boomerang Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.02 FLNB ITGA2 IVD RUNX2 SERPINC1

Drugs & Therapeutics for Boomerang Dysplasia

Search Clinical Trials , NIH Clinical Center for Boomerang Dysplasia

Genetic Tests for Boomerang Dysplasia

Genetic tests related to Boomerang Dysplasia:

# Genetic test Affiliating Genes
1 Boomerang Dysplasia 30 FLNB

Anatomical Context for Boomerang Dysplasia

MalaCards organs/tissues related to Boomerang Dysplasia:

42
Bone, Testes, Lung

Publications for Boomerang Dysplasia

Articles related to Boomerang Dysplasia:

(show all 13)
# Title Authors Year
1
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging. ( 22354125 )
2012
2
Filamin B mutations cause chondrocyte defects in skeletal development. ( 17510210 )
2007
3
Mutations in FLNB cause boomerang dysplasia. ( 15994868 )
2005
4
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. ( 14991055 )
2004
5
Prenatal diagnosis of boomerang dysplasia. ( 12955767 )
2003
6
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia. ( 10227404 )
1999
7
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. ( 9409862 )
1997
8
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. ( 8291529 )
1993
9
Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? ( 1466560 )
1992
10
Atelosteogenesis I and boomerang dysplasia: a question of nosology. ( 1863996 )
1991
11
Boomerang dysplasia. ( 2202214 )
1990
12
Boomerang dysplasia. ( 4063680 )
1985
13
Boomerang dysplasia. A new form of neonatal death dwarfism. ( 6403439 )
1983

Variations for Boomerang Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Boomerang Dysplasia:

76
# Symbol AA change Variation ID SNP ID
1 FLNB p.Leu171Arg VAR_033071 rs80356494
2 FLNB p.Ser235Pro VAR_033077 rs121908896

ClinVar genetic disease variations for Boomerang Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.512T> G (p.Leu171Arg) single nucleotide variant Pathogenic rs80356494 GRCh37 Chromosome 3, 58062992: 58062992
2 FLNB NM_001457.3(FLNB): c.512T> G (p.Leu171Arg) single nucleotide variant Pathogenic rs80356494 GRCh38 Chromosome 3, 58077265: 58077265
3 FLNB NM_001457.3(FLNB): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs121908896 GRCh37 Chromosome 3, 58067419: 58067419
4 FLNB NM_001457.3(FLNB): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs121908896 GRCh38 Chromosome 3, 58081692: 58081692
5 FLNB NM_001164317.1(FLNB): c.808A> G (p.Met270Val) single nucleotide variant Uncertain significance rs145036794 GRCh38 Chromosome 3, 58094856: 58094856
6 FLNB NM_001164317.1(FLNB): c.808A> G (p.Met270Val) single nucleotide variant Uncertain significance rs145036794 GRCh37 Chromosome 3, 58080583: 58080583
7 FLNB NM_001457.3(FLNB): c.4391G> C (p.Gly1464Ala) single nucleotide variant Uncertain significance rs886044175 GRCh37 Chromosome 3, 58118535: 58118535
8 FLNB NM_001457.3(FLNB): c.4391G> C (p.Gly1464Ala) single nucleotide variant Uncertain significance rs886044175 GRCh38 Chromosome 3, 58132808: 58132808
9 FLNB NM_001164317.1(FLNB): c.199C> T (p.His67Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 58008763: 58008763
10 FLNB NM_001164317.1(FLNB): c.199C> T (p.His67Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 57994490: 57994490

Expression for Boomerang Dysplasia

Search GEO for disease gene expression data for Boomerang Dysplasia.

Pathways for Boomerang Dysplasia

Pathways related to Boomerang Dysplasia according to KEGG:

38
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Focal adhesion hsa04510

Pathways related to Boomerang Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 FLNB ITGA2
2 11.08 ITGA2 RUNX2
3 10.27 ITGA2 RUNX2

GO Terms for Boomerang Dysplasia

Biological processes related to Boomerang Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 8.62 ITGA2 SERPINC1

Sources for Boomerang Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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