Aliases & Classifications for Flnb Disorders

MalaCards integrated aliases for Flnb Disorders:

Name: Flnb Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Germline flnb pathogenic variants are fully penetrant but show variable expressivity, leading to the range of phenotypes described in this genereview.

Summaries for Flnb Disorders

MalaCards based summary : Flnb Disorders is related to atelosteogenesis, type i and atelosteogenesis, type iii. An important gene associated with Flnb Disorders is FLNB (Filamin B). Affiliated tissues include brain.

Wikipedia : 74 Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is... more...

GeneReviews: NBK2534

Related Diseases for Flnb Disorders

Diseases related to Flnb Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 atelosteogenesis, type i 10.0
2 atelosteogenesis, type iii 10.0
3 boomerang dysplasia 10.0
4 cleft palate, isolated 10.0
5 hypertelorism 10.0
6 larsen syndrome 10.0
7 odontochondrodysplasia 10.0
8 chromosome 2q35 duplication syndrome 10.0
9 spondylocarpotarsal synostosis syndrome 10.0
10 atelosteogenesis 10.0
11 scoliosis 10.0
12 omphalocele 10.0
13 synostosis 10.0
14 exophthalmos 10.0
15 dwarfism 10.0

Graphical network of the top 20 diseases related to Flnb Disorders:



Diseases related to Flnb Disorders

Symptoms & Phenotypes for Flnb Disorders

Drugs & Therapeutics for Flnb Disorders

Search Clinical Trials , NIH Clinical Center for Flnb Disorders

Genetic Tests for Flnb Disorders

Anatomical Context for Flnb Disorders

MalaCards organs/tissues related to Flnb Disorders:

40
Brain

Publications for Flnb Disorders

Articles related to Flnb Disorders:

(show all 38)
# Title Authors PMID Year
1
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. 24
30231296 2018
2
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. 24
29797497 2018
3
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 24
29566257 2018
4
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. 24
28639312 2017
5
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
6
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. 24
27395407 2016
7
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 24
24755949 2015
8
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. 24
22190451 2012
9
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging. 24
22354125 2012
10
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report. 24
18377309 2008
11
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. 24
18257094 2008
12
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 24
16801345 2007
13
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. 24
17202879 2007
14
Mutations in two regions of FLNB result in atelosteogenesis I and III. 24
16752402 2006
15
Mutations in FLNB cause boomerang dysplasia. 24
15994868 2005
16
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 24
14991055 2004
17
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. 24
12454961 2002
18
Spondylocarpotarsal synostosis with epiphyseal dysplasia. 24
11992487 2002
19
Spondylocarpotarsal synostosis syndrome and cervical instability. 24
10766994 2000
20
Spondylocarpotarsal synostosis with ocular findings. 24
10748412 2000
21
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. 24
10076882 1999
22
Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. 24
9557886 1998
23
Cervical kyphosis in patients who have Larsen syndrome. 24
8609132 1996
24
Brain dysplasia associated with Larsen-like syndrome. 24
8652025 1996
25
Larsen syndrome in siblings with consanguineous parents. 24
7526939 1994
26
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar). 24
8030662 1994
27
Larsen's syndrome: review of the literature and analysis of thirty-eight cases. 24
8113375 1994
28
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism. 24
8213905 1993
29
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 24
1640425 1992
30
Ossicular abnormality in Larsen's syndrome: a case report. 24
2029067 1991
31
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. 24
2368807 1990
32
A further patient with the lethal type of Larsen syndrome. 24
3172146 1988
33
Mixed hearing loss in Larsen syndrome. 24
3378369 1988
34
Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia. 24
6753583 1982
35
Atelosteogenesis. 24
7137218 1982
36
The association of a hearing deficit with Larsen's syndrome. 24
7193744 1981
37
Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. 61
19505475 2009
38
FLNB Disorders 61
20301736 2008

Variations for Flnb Disorders

Expression for Flnb Disorders

Search GEO for disease gene expression data for Flnb Disorders.

Pathways for Flnb Disorders

GO Terms for Flnb Disorders

Sources for Flnb Disorders

3 CDC
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11 DGIdb
17 EFO
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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