MCID: ATL001
MIFTS: 34

Atelosteogenesis

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Atelosteogenesis

MalaCards integrated aliases for Atelosteogenesis:

Name: Atelosteogenesis 12 29 6 15
Atelosteogenesis, Type 1 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050648
UMLS 70 C0265283

Summaries for Atelosteogenesis

Disease Ontology : 12 An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

MalaCards based summary : Atelosteogenesis, also known as atelosteogenesis, type 1, is related to boomerang dysplasia and larsen syndrome. An important gene associated with Atelosteogenesis is FLNB (Filamin B), and among its related pathways/superpathways are ERK Signaling and MAPK signaling pathway. Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Atelosteogenesis

Diseases in the Atelosteogenesis family:

Atelosteogenesis, Type I Atelosteogenesis, Type Iii
Atelosteogenesis, Type Ii

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 boomerang dysplasia 31.3 SLC35D1 FLNC FLNB FLNA
2 larsen syndrome 31.0 SLC35D1 SLC26A2 FLNC FLNB FLNA
3 diastrophic dysplasia 30.0 SLC26A8 SLC26A2 SLC26A11 COL9A3 COL9A2 COL9A1
4 cleft palate, isolated 30.0 FLNB FLNA COL9A2 COL9A1
5 epiphyseal dysplasia, multiple, 4 29.9 SLC26A2 COL9A3 COL9A2 COL9A1
6 otopalatodigital syndrome, type ii 29.8 FLNC FLNB FLNA
7 melnick-needles syndrome 29.8 FLNC FLNB FLNA
8 multiple epiphyseal dysplasia 29.7 SLC26A2 COL9A3 COL9A2 COL9A1
9 achondrogenesis, type ib 29.3 SLC26A2 SLC13A1 PAPSS2 COL9A3 COL9A2 COL9A1
10 achondrogenesis 28.9 SLC35D1 SLC26A8 SLC26A2 SLC13A1 COL9A3 COL9A2
11 osteochondrodysplasia 28.7 SLC35D1 SLC26A2 PAPSS2 FLNC FLNB FLNA
12 atelosteogenesis, type ii 11.8
13 atelosteogenesis, type i 11.8
14 atelosteogenesis, type iii 11.7
15 clubfoot 10.2
16 flnb disorders 10.2
17 dwarfism 10.2
18 cardiospondylocarpofacial syndrome 10.2 MAP3K7 FLNB
19 lethal chondrodysplasia 10.2
20 otopalatodigital syndrome, type i 10.2 FLNB FLNA
21 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
22 ear malformation 10.1 MAP3K7 FLNB
23 multiple epiphyseal dysplasia, recessive 10.1
24 scheuermann disease 10.1 FLNB COL9A3
25 3mc syndrome 2 10.1
26 3mc syndrome 10.1
27 schneckenbecken dysplasia 10.1 SLC35D1 SLC26A2
28 back pain 10.1 COL9A3 COL9A2
29 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL9A2 COL9A1
30 myopathy, myofibrillar, 5 10.0 FLNC FLNB FLNA
31 hypochondrogenesis 10.0 SLC26A2 COL9A2 COL9A1
32 myofibrillar myopathy 10.0 FLNC FLNB FLNA
33 achondrogenesis, type ii 10.0 SLC26A2 COL9A1
34 brachyolmia 10.0 SLC26A2 PAPSS2
35 hypertelorism 10.0
36 tracheomalacia 10.0
37 periventricular nodular heterotopia 10.0 FLNC FLNB FLNA
38 otopalatodigital syndrome spectrum disorder 9.9 MAP3K7 FLNC FLNB FLNA
39 spondylocarpotarsal synostosis syndrome 9.9 SLC35D1 SLC26A2 FLNB FLNA
40 multiple epiphyseal dysplasia, autosomal dominant 9.9 COL9A3 COL9A2 COL9A1
41 autosomal recessive stickler syndrome 9.9 COL9A3 COL9A2 COL9A1
42 stickler syndrome 9.9 COL9A3 COL9A2 COL9A1
43 vitreous syneresis 9.9 COL9A3 COL9A2 COL9A1
44 fibrochondrogenesis 1 9.8 COL9A3 COL9A2 COL9A1
45 spondyloepiphyseal dysplasia congenita 9.8 COL9A3 COL9A2 COL9A1
46 bone deterioration disease 9.8 COL9A3 COL9A2
47 marshall syndrome 9.8 COL9A3 COL9A2 COL9A1
48 osteochondrosis 9.8 COL9A3 COL9A2 COL9A1
49 osteochondritis dissecans 9.8 COL9A3 COL9A2 COL9A1
50 epicanthus 9.8

Graphical network of the top 20 diseases related to Atelosteogenesis:



Diseases related to Atelosteogenesis

Symptoms & Phenotypes for Atelosteogenesis

GenomeRNAi Phenotypes related to Atelosteogenesis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.32 SLC26A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.32 FLNB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.32 MAP3K7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.32 FLNB SLC26A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.32 FLNB
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.32 MAP3K7
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.32 MAP3K7
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-51 9.32 MAP3K7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-92 9.32 MAP3K7

MGI Mouse Phenotypes related to Atelosteogenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 COL9A1 COL9A2 FLNB PAPSS2 SLC13A1 SLC26A2
2 skeleton MP:0005390 9.23 COL9A1 COL9A2 FLNA FLNB PAPSS2 SLC13A1

Drugs & Therapeutics for Atelosteogenesis

Search Clinical Trials , NIH Clinical Center for Atelosteogenesis

Genetic Tests for Atelosteogenesis

Genetic tests related to Atelosteogenesis:

# Genetic test Affiliating Genes
1 Atelosteogenesis 29

Anatomical Context for Atelosteogenesis

MalaCards organs/tissues related to Atelosteogenesis:

40
Bone

Publications for Atelosteogenesis

Articles related to Atelosteogenesis:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach. 61
33255942 2020
2
[Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing]. 61
32619261 2020
3
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. 61
30423444 2019
4
Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. 61
30685387 2019
5
Long-term survival of a pediatric patient affected with atelosteogenesis type 3 in an adult ICU. 61
29651828 2018
6
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. 61
30231296 2018
7
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. 61
29797497 2018
8
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 61
29566257 2018
9
Atelosteogenesis type III: orthopedic management. 61
27258362 2017
10
Filamin B: The next hotspot in skeletal research? 61
28739045 2017
11
F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain. 61
26491051 2016
12
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. 61
24624349 2014
13
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. 61
23840040 2013
14
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. 61
23401428 2013
15
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 61
21155763 2011
16
Atelosteogenesis type I: autopsy findings. 61
21985323 2011
17
Sulfate in fetal development. 61
21419855 2011
18
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 61
21077202 2010
19
Prenatal sonographic features of fetal atelosteogenesis type 1. 61
19643794 2009
20
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
21
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 61
18708426 2008
22
Fetal MR imaging of atelosteogenesis type II (AO-II). 61
18716767 2008
23
FLNB Disorders 61
20301736 2008
24
Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. 61
18792994 2008
25
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. 61
18553123 2008
26
Filamin B mutations cause chondrocyte defects in skeletal development. 61
17510210 2007
27
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. 61
17360453 2007
28
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. 61
17009344 2006
29
Mutations in two regions of FLNB result in atelosteogenesis I and III. 61
16752402 2006
30
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 61
16642506 2006
31
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. 61
17120769 2006
32
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. 61
16052470 2005
33
Mutations in FLNB cause boomerang dysplasia. 61
15994868 2005
34
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 61
15703192 2005
35
Pathogenetics of the human SLC26 transporters. 61
15720248 2005
36
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 61
15294877 2004
37
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 61
15316973 2004
38
Occipital projections in the skeletal dysplasias. 61
15107965 2004
39
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 61
14991055 2004
40
Recessive omodysplasia: five new cases and review of the literature. 61
14566439 2004
41
Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. 61
14605823 2003
42
Prenatal diagnosis of boomerang dysplasia. 61
12955767 2003
43
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 61
12966518 2003
44
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. 61
14692227 2003
45
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. 61
12454961 2002
46
Atelosteogenesis Type 2 61
20301493 2002
47
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. 61
11457925 2001
48
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 61
11448940 2001
49
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 61
11241838 2001
50
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 61
10706363 2000

Variations for Atelosteogenesis

ClinVar genetic disease variations for Atelosteogenesis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.3(SLC26A2):c.*1221del Deletion Uncertain significance 352049 rs886060233 GRCh37: 5:149362585-149362585
GRCh38: 5:149983022-149983022
2 SLC26A2 NM_000112.3(SLC26A2):c.*3693_*3695delCAG Microsatellite Uncertain significance 352080 rs886060246 GRCh37: 5:149365066-149365068
GRCh38: 5:149985503-149985505
3 SLC26A2 NM_000112.3(SLC26A2):c.*4397A>G SNV Uncertain significance 352085 rs547302746 GRCh37: 5:149365773-149365773
GRCh38: 5:149986210-149986210
4 SLC26A2 NM_000112.3(SLC26A2):c.*4064dup Duplication Uncertain significance 352081 rs886060247 GRCh37: 5:149365439-149365440
GRCh38: 5:149985876-149985877
5 SLC26A2 NM_000112.3(SLC26A2):c.*1221dup Duplication Uncertain significance 352048 rs886060233 GRCh37: 5:149362584-149362585
GRCh38: 5:149983021-149983022
6 SLC26A2 NM_000112.3(SLC26A2):c.*4469dup Duplication Uncertain significance 352086 rs397883627 GRCh37: 5:149365836-149365837
GRCh38: 5:149986273-149986274
7 SLC26A2 NM_000112.3(SLC26A2):c.*4870dup Duplication Likely benign 352093 rs368872246 GRCh37: 5:149366245-149366246
GRCh38: 5:149986682-149986683
8 SLC26A2 NM_000112.3(SLC26A2):c.*1892dup Duplication Likely benign 352054 rs148778566 GRCh37: 5:149363267-149363268
GRCh38: 5:149983704-149983705
9 SLC26A2 NM_000112.3(SLC26A2):c.*4469del Deletion Benign 352088 rs397883627 GRCh37: 5:149365837-149365837
GRCh38: 5:149986274-149986274

Expression for Atelosteogenesis

Search GEO for disease gene expression data for Atelosteogenesis.

Pathways for Atelosteogenesis

Pathways related to Atelosteogenesis according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 MAP3K7 FLNC FLNB FLNA COL9A3 COL9A2
2 12.37 MAP3K7 FLNC FLNB FLNA
3
Show member pathways
12.21 MAP3K7 FLNC FLNB FLNA
4 11.98 FLNC FLNB FLNA
5
Show member pathways
11.87 FLNC FLNB FLNA COL9A3 COL9A2 COL9A1
6
Show member pathways
11.74 COL9A3 COL9A2 COL9A1
7 11.34 FLNC FLNB FLNA
8 11.09 COL9A3 COL9A2 COL9A1
9 11 COL9A3 COL9A1
10 10.93 MAP3K7 FLNA
11 10.7 COL9A3 COL9A2 COL9A1

GO Terms for Atelosteogenesis

Cellular components related to Atelosteogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.33 FLNC FLNB FLNA
2 collagen trimer GO:0005581 9.13 COL9A3 COL9A2 COL9A1
3 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Atelosteogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.73 SLC26A8 SLC26A2 SLC26A11 SLC13A1
2 bicarbonate transport GO:0015701 9.4 SLC26A8 SLC26A2
3 cell junction assembly GO:0034329 9.37 FLNC FLNA
4 anion transmembrane transport GO:0098656 9.33 SLC26A8 SLC26A11 SLC13A1
5 oxalate transport GO:0019532 9.32 SLC26A8 SLC26A2
6 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.26 SLC26A2 PAPSS2
7 sulfate transmembrane transport GO:1902358 9.26 SLC26A8 SLC26A2 SLC26A11 SLC13A1
8 sulfate transport GO:0008272 8.92 SLC26A8 SLC26A2 SLC26A11 SLC13A1

Molecular functions related to Atelosteogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.63 COL9A3 COL9A2 COL9A1
2 chloride transmembrane transporter activity GO:0015108 9.43 SLC26A8 SLC26A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL9A3 COL9A2 COL9A1
4 bicarbonate transmembrane transporter activity GO:0015106 9.4 SLC26A8 SLC26A2
5 anion transmembrane transporter activity GO:0008509 9.37 SLC26A8 SLC26A11
6 anion:anion antiporter activity GO:0015301 9.33 SLC26A8 SLC26A2 SLC26A11
7 oxalate transmembrane transporter activity GO:0019531 9.32 SLC26A8 SLC26A2
8 sulfate transmembrane transporter activity GO:0015116 9.13 SLC26A8 SLC26A2 SLC26A11
9 secondary active sulfate transmembrane transporter activity GO:0008271 8.92 SLC26A8 SLC26A2 SLC26A11 SLC13A1

Sources for Atelosteogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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