MCID: ATL001
MIFTS: 38

Atelosteogenesis

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

Aliases & Classifications for Atelosteogenesis

MalaCards integrated aliases for Atelosteogenesis:

Name: Atelosteogenesis 12 37 29 6 15
Atelosteogenesis, Type 1 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050648
KEGG 37 H02064
UMLS 73 C0265283

Summaries for Atelosteogenesis

MalaCards based summary : Atelosteogenesis, also known as atelosteogenesis, type 1, is related to diastrophic dysplasia and boomerang dysplasia. An important gene associated with Atelosteogenesis is FLNB (Filamin B), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion. The drugs Capsaicin and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are Decreased cell migration and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance

Related Diseases for Atelosteogenesis

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 cell migration GR00055-A-1 9.26 FGFR3 FLNA FLNC GPC6
2 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.92 ARPC1A FGFR3 FLNC GPC6

MGI Mouse Phenotypes related to Atelosteogenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 COMP FGFR3 FLNA FLNB FLNC GPC6
2 craniofacial MP:0005382 9.72 FGFR3 FLNA FLNB GPC6 SLC26A2
3 limbs/digits/tail MP:0005371 9.63 COL9A2 COMP FGFR3 FLNB GPC6 SLC26A2
4 respiratory system MP:0005388 9.35 FLNB FLNC GPC6 FGFR3 FLNA
5 skeleton MP:0005390 9.17 COL9A2 COMP FGFR3 FLNA FLNB GPC6

Drugs & Therapeutics for Atelosteogenesis

Drugs for Atelosteogenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capsaicin Approved Phase 4 404-86-4 1548943
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
4 Adjuvants, Anesthesia Phase 4
5 Analgesics Phase 4
6 Analgesics, Opioid Phase 4
7 Anesthetics Phase 4
8 Anesthetics, Dissociative Phase 4
9 Anesthetics, General Phase 4
10 Anesthetics, Intravenous Phase 4
11 Central Nervous System Depressants Phase 4
12 Excitatory Amino Acid Antagonists Phase 4
13 Excitatory Amino Acids Phase 4
14 Narcotics Phase 4
15 Neurotransmitter Agents Phase 4
16 Peripheral Nervous System Agents Phase 4,Not Applicable
17 Hops Approved, Nutraceutical Not Applicable
18 Autonomic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sensory Examination and Pharmacological Modulation of Oral Hyperexcitability in Patients With Atypical Odontalgia and Matched Healthy Controls Completed NCT00115102 Phase 4 fentanyl;S-ketamine
2 ACUVUE® OASYS® 1-DAY vs DAILIES TOTAL1® Completed NCT02750813 Not Applicable
3 Clinical Evaluation of ACUVUE® OASYS® 1-Day and ACUVUE® OASYS® Completed NCT02696317 Not Applicable
4 Investigation of the Acute Cognitive, Mood and Autonomic Effects of Hops in Healthy Participants Completed NCT01376869 Not Applicable

Search 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:

41
Bone

Publications for Atelosteogenesis

Articles related to Atelosteogenesis:

(show all 39)
# Title Authors Year
1
Long term survival of a pediatric patient affected with atelosteogenesis type 3 in an adult intensive care unit. ( 29651828 )
2018
2
Atelosteogenesis type III: orthopedic management. ( 27258362 )
2016
3
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. ( 24624349 )
2014
4
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. ( 23401428 )
2013
5
Atelosteogenesis type I: autopsy findings. ( 21985323 )
2011
6
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
7
Prenatal sonographic features of fetal atelosteogenesis type 1. ( 19643794 )
2009
8
Fetal MR imaging of atelosteogenesis type II (AO-II). ( 18716767 )
2008
9
Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. ( 18792994 )
2008
10
Mutations in two regions of FLNB result in atelosteogenesis I and III. ( 16752402 )
2006
11
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ( 16642506 )
2006
12
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. ( 16052470 )
2005
13
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
14
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. ( 12454961 )
2002
15
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. ( 10076882 )
1999
16
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. ( 9779808 )
1998
17
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. ( 9843047 )
1998
18
Atelosteogenesis type 2. ( 9475095 )
1998
19
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. ( 9342225 )
1997
20
Atelosteogenesis syndromes: a review, with comments on their pathogenesis. ( 9133349 )
1997
21
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
22
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. ( 8571951 )
1996
23
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ( 8931695 )
1996
24
A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum? ( 8781111 )
1996
25
Atelosteogenesis type III: a case report. ( 8008496 )
1994
26
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. ( 7632220 )
1994
27
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. ( 8291529 )
1993
28
Atelosteogenesis type 1. ( 8373337 )
1993
29
Atelosteogenesis Type 2 ( 20301493 )
1993
30
Atelosteogenesis type II: sonographic and radiological correlation. ( 1279661 )
1992
31
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. ( 1442028 )
1992
32
Atelosteogenesis I and boomerang dysplasia: a question of nosology. ( 1863996 )
1991
33
A case of atelosteogenesis. ( 2325095 )
1990
34
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. ( 2368807 )
1990
35
Variant of atelosteogenesis? Report of a 20-week fetus. ( 3400734 )
1988
36
Atelosteogenesis: evidence for heterogeneity. ( 3562108 )
1987
37
Antenatal diagnosis of frontal cephalocele in a fetus with atelosteogenesis. ( 3514934 )
1986
38
Atelosteogenesis. ( 6420296 )
1984
39
Atelosteogenesis. ( 7137218 )
1982

Variations for Atelosteogenesis

ClinVar genetic disease variations for Atelosteogenesis:

6
(show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
2 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
3 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
4 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
5 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
6 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
7 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
8 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
9 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
10 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
11 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
12 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
13 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
14 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
15 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
16 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
17 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
18 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
19 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
20 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
21 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
22 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
23 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
24 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
25 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
26 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
27 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
28 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
29 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
30 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
31 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
32 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
33 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
34 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
35 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846
36 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
37 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh37 Chromosome 5, 149363979: 149363979
38 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh38 Chromosome 5, 149984416: 149984416
39 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh37 Chromosome 5, 149363993: 149363993
40 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh38 Chromosome 5, 149984430: 149984430
41 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh38 Chromosome 5, 149985074: 149985074
42 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh37 Chromosome 5, 149364637: 149364637
43 SLC26A2 NM_000112.3(SLC26A2): c.*3307A> G single nucleotide variant Uncertain significance rs557854258 GRCh38 Chromosome 5, 149985120: 149985120
44 SLC26A2 NM_000112.3(SLC26A2): c.*3307A> G single nucleotide variant Uncertain significance rs557854258 GRCh37 Chromosome 5, 149364683: 149364683
45 SLC26A2 NM_000112.3(SLC26A2): c.*3466C> G single nucleotide variant Likely benign rs6888879 GRCh37 Chromosome 5, 149364842: 149364842
46 SLC26A2 NM_000112.3(SLC26A2): c.*3466C> G single nucleotide variant Likely benign rs6888879 GRCh38 Chromosome 5, 149985279: 149985279
47 SLC26A2 NM_000112.3(SLC26A2): c.*4799G> A single nucleotide variant Uncertain significance rs72832119 GRCh37 Chromosome 5, 149366175: 149366175
48 SLC26A2 NM_000112.3(SLC26A2): c.*4799G> A single nucleotide variant Uncertain significance rs72832119 GRCh38 Chromosome 5, 149986612: 149986612
49 SLC26A2 NM_000112.3(SLC26A2): c.*4930C> T single nucleotide variant Uncertain significance rs79521091 GRCh37 Chromosome 5, 149366306: 149366306
50 SLC26A2 NM_000112.3(SLC26A2): c.*4930C> T single nucleotide variant Uncertain significance rs79521091 GRCh38 Chromosome 5, 149986743: 149986743

Expression for Atelosteogenesis

Search GEO for disease gene expression data for Atelosteogenesis.

Pathways for Atelosteogenesis

Pathways related to Atelosteogenesis according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Focal adhesion hsa04510

Pathways related to Atelosteogenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 COL9A2 FGFR3 FLNA FLNB FLNC GPC6
2
Show member pathways
12.78 FGFR3 FLNA FLNB FLNC GPC6
3 12.12 FGFR3 FLNA FLNB FLNC
4
Show member pathways
12.12 COL9A2 COMP FLNA FLNB FLNC
5 12.07 FLNA FLNB FLNC
6 11.85 FLNA FLNB FLNC
7 11.52 FLNA FLNB FLNC
8 11.19 COL9A2 COMP
9 10.86 ARPC1A FLNA FLNB FLNC

GO Terms for Atelosteogenesis

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

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.33 ARPC1A FLNA FLNB
2 Z disc GO:0030018 9.13 FLNA FLNB FLNC
3 focal adhesion GO:0005925 8.92 FGFR3 FLNA FLNB FLNC

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.13 COL9A2 COMP FGFR3
2 cell junction assembly GO:0034329 8.62 FLNA FLNC

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.33 ARPC1A FLNA FLNB
2 actin filament binding GO:0051015 9.13 ARPC1A FLNA FLNC
3 heparan sulfate proteoglycan binding GO:0043395 8.62 COMP GPC6

Sources for Atelosteogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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