MCID: ATL001
MIFTS: 35

Atelosteogenesis

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

Aliases & Classifications for Atelosteogenesis

MalaCards integrated aliases for Atelosteogenesis:

Name: Atelosteogenesis 12 29 14
Atelosteogenesis, Type 1 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050648

Summaries for Atelosteogenesis

MalaCards based summary : Atelosteogenesis, also known as atelosteogenesis, type 1, is related to atelosteogenesis ii and otopalatodigital syndrome, type ii. An important gene associated with Atelosteogenesis is FLNB (Filamin B), and among its related pathways/superpathways are PAK Pathway and MAPK signaling pathway. 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

Diseases in the Atelosteogenesis family:

Atelosteogenesis, Type I Atelosteogenesis, Type Iii
Atelosteogenesis Ii

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 atelosteogenesis ii 33.8 COMP SLC26A2
2 otopalatodigital syndrome, type ii 29.8 FLNA FLNB
3 atelosteogenesis, type i 12.4
4 atelosteogenesis, type iii 12.3
5 boomerang dysplasia 11.2
6 epiphyseal dysplasia, multiple, 4 10.5 FLNB SLC26A2
7 cold-induced sweating syndrome 10.5 GPC6 SLC26A2
8 fibrochondrogenesis 10.5 FLNB SLC26A2
9 stickler syndrome 10.4 COL9A2 SLC26A2
10 autosomal dominant nonsyndromic deafness 69 10.3 DNM2 SLC26A2
11 myopathy, distal, 4 10.1 FLNA FLNC
12 bone structure disease 10.1 COL9A2 IVD
13 diastrophic dysplasia 10.1
14 skeletal dysplasias 10.0
15 skeletal dysplasia 10.0
16 epiphyseal dysplasia, multiple, 1 10.0 COL9A2 COMP SLC26A2
17 osteonecrosis 10.0 COL9A2 COMP
18 intermediate uveitis 10.0 COL9A2 COMP SLC26A2
19 chromosomal disease 9.9 COL9A2 IVD
20 myopathy with extrapyramidal signs 9.9 FGFR3 SLC26A2
21 hajdu-cheney syndrome 9.8 FLNA FLNB FLNC
22 otopalatodigital syndrome 9.7
23 melnick-needles syndrome 9.7
24 crouzon syndrome with acanthosis nigricans 9.7 COMP FGFR3
25 vulvovaginitis 9.4 FGFR3 FLNA FLNB SLC26A2
26 hypochondroplasia 9.2 COMP FGFR3
27 ischemic bone disease 9.2 COL9A2 COMP FGFR3 SLC26A2
28 sulfite oxidase deficiency 9.1 COMP FGFR3 FLNA SLC26A2
29 slc6a4-related altered drug metabolism 9.1 COMP FGFR3 FLNA SLC26A2
30 combined oxidative phosphorylation deficiency 28 8.9 ARPC1A DNM2 FLNA FLNB IVD SLC26A2
31 skin fragility-woolly hair-palmoplantar keratoderma syndrome 8.9 COMP FGFR3 FLNA FLNB SLC26A2
32 atrioventricular septal defect 6.2 ARPC1A COL9A2 COMP DNM2 FGFR3 FLNA

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.26 FLNC GPC6 FGFR3 FLNA
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 COL9A2 COMP DNM2 FGFR3 FLNA FLNB
2 craniofacial MP:0005382 9.65 DNM2 FGFR3 FLNA FLNB SLC26A2
3 limbs/digits/tail MP:0005371 9.35 FGFR3 FLNB SLC26A2 COL9A2 COMP
4 skeleton MP:0005390 9.1 COL9A2 COMP FGFR3 FLNA FLNB SLC26A2

Drugs & Therapeutics for Atelosteogenesis

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

(show all 18)
id 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
17 Hops Approved, Nutraceutical
18 Autonomic Agents

Interventional clinical trials:


id 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
3 Clinical Evaluation of ACUVUE® OASYS® 1-Day and ACUVUE® OASYS® Completed NCT02696317
4 Investigation of the Acute Cognitive, Mood and Autonomic Effects of Hops in Healthy Participants Completed NCT01376869

Search NIH Clinical Center for Atelosteogenesis

Genetic Tests for Atelosteogenesis

Genetic tests related to Atelosteogenesis:

id Genetic test Affiliating Genes
1 Atelosteogenesis 29

Anatomical Context for Atelosteogenesis

MalaCards organs/tissues related to Atelosteogenesis:

39
Bone

Publications for Atelosteogenesis

Articles related to Atelosteogenesis:

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

Variations for Atelosteogenesis

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 FGFR3 FLNA FLNB FLNC GPC6
2 12.19 FGFR3 FLNA FLNB FLNC
3
Show member pathways
12.12 COL9A2 COMP FLNA FLNB FLNC
4 12.02 ARPC1A DNM2 FGFR3
5 11.94 DNM2 FLNA FLNB FLNC
6 11.85 FLNA FLNB FLNC
7 11.58 FLNA FLNB FLNC
8 10.86 ARPC1A FLNA FLNB FLNC

GO Terms for Atelosteogenesis

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.65 ARPC1A DNM2 FLNA FLNB FLNC
2 actin cytoskeleton GO:0015629 9.33 ARPC1A FLNA FLNB
3 Z disc GO:0030018 9.13 FLNA FLNB FLNC
4 focal adhesion GO:0005925 9.02 DNM2 FGFR3 FLNA FLNB FLNC

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.16 DNM2 FLNA
2 skeletal system development GO:0001501 9.13 COL9A2 COMP FGFR3
3 cell junction assembly GO:0034329 8.62 FLNA FLNC

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

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

Sources for Atelosteogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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