MCID: ATL001
MIFTS: 29

Atelosteogenesis malady

Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Neuronal diseases categories

Aliases & Classifications for Atelosteogenesis

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Aliases & Descriptions for Atelosteogenesis:

Name: Atelosteogenesis 10 12
 
Atelosteogenesis, Type 1 65


Classifications:



External Ids:

Disease Ontology10 DOID:0050648

Summaries for Atelosteogenesis

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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, Beta), and among its related pathways are ECM proteoglycans and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

Related Diseases for Atelosteogenesis

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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 31)
idRelated DiseaseScoreTop Affiliating Genes
1diastrophic dysplasia30.6COMP, SLC26A2
2boomerang dysplasia30.3ARPC1A, DNM2, FLNB, SLC26A2
3atelosteogenesis, type i10.8
4atelosteogenesis ii10.8
5atelosteogenesis, type iii10.7
6skeletal dysplasias10.4
7skeletal dysplasia10.4
8achondrogenesis ib10.2FLNB, SLC26A2
9blepharophimosis-intellectual disability syndrome, sbbys type10.2GPC6, SLC26A2
10epiphyseal dysplasia, multiple, 410.1COMP, SLC26A2
11darier disease10.1COMP, SLC26A2
12multiple epiphyseal dysplasia, recessive10.1COL9A2, COMP
13otopalatodigital syndrome, type ii10.1
14melnick-needles syndrome10.1
15infantile apnea10.1
16otopalatodigital syndrome10.1
17pachyonychia congenita10.0FLNA, FLNB
18osteochondrosis10.0COL9A2, COMP
19epiphyseal dysplasia, multiple, 110.0COL9A2, COMP, SLC26A2
20chronic gonococcal salpingitis9.9COL9A2, COMP, SLC26A2
21hajdu-cheney syndrome9.9FLNA, FLNB, FLNC
22gonococcal iridocyclitis9.9FGFR3, FLNA
23thanatophoric dysplasia, type i9.9COMP, FGFR3
24acquired metabolic disease9.8COL9A2, COMP, FLNB, SLC26A2
25slc16a1-related hyperinsulinism9.8COMP, FGFR3, SLC26A2
26achondroplasia9.7COMP, FGFR3
27constipation9.7COMP, FGFR3, SLC26A2
28osteomyelitis9.5COL9A2, COMP, FGFR3, FLNB, SLC26A2
29bone ewing's sarcoma9.5COL9A2, COMP, FGFR3, FLNB, SLC26A2
30skeleto cardiac syndrome with thrombocytopenia9.5COMP, FGFR3, FLNA, FLNB, SLC26A2
31distal arthrogryposis8.6ARPC1A, COL9A2, COMP, DNM2, FGFR3, FLNA

Graphical network of the top 20 diseases related to Atelosteogenesis:



Diseases related to atelosteogenesis

Symptoms for Atelosteogenesis

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Drugs & Therapeutics for Atelosteogenesis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
KetamineapprovedPhase 44166740-88-13821
Synonyms:
(+-)-Ketamine
(+/-)-2-(2-Chlorophenyl)-2-(methylamino)cyclohexanone
(+/-)-2-(o-Chlorophenyl)-2-(methylamino)cyclohexanone
(+/-)-Ketamine
(-)-Ketamine
(S)-(-)-Ketamine
(S)-Ketamine
(┬▒)-ketamine
100477-72-3
2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone
2-(2-Chlorophenyl)-2-(methylamino)cyclohexanone
2-(2-chlorophenyl)-2-(methylamino)cyclohexan-1-one
2-(Methylamino)-2-(2-chlorophenyl)cyclohexanone
2-(methylamino)-2-(2-chlorophenyl)cyclohexanone
2-(o-Chlorophenyl)-2-(methylamino)-cyclohexanone
2-(o-Chlorophenyl)-2-(methylamino)cyclohexanone
2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone
33643-45-7
6740-88-1
79499-51-7
AC1L1GSH
AC1Q40UR
AKOS001053247
BRN 2216965
C07525
C13H16ClNO
CHEBI:138833
CHEBI:6121
CHEMBL742
CI 581 base
CI-581
CID3821
CLSTA 20
Calypsol
Cetamina
Cetamina [INN-Spanish]
Cyclohexanone, 2-(2-chlorophenyl)-2-(methylamino)- (9CI)
Cyclohexanone, 2-(2-chlorophenyl)-2-(methylamino)-, (+-)- (9CI)
Cyclohexanone, 2-(o-chlorophenyl)-2-(methylamino)-, (+/-)- (8CI)
D08098
DB01221
DEA No. 7285
DL-ketamine
 
DivK1c_000217
EINECS 229-804-1
Esketamine
Green
IDI1_000217
KBio1_000217
KETAMINE
KETAMINE HCL
Ketaject
Ketalar
Ketalar base
Ketamina
Ketamine (INN)
Ketamine Base
Ketamine HCL
Ketamine Hydrochloride
Ketamine [INN:BAN]
Ketamine hydrochloride
Ketaminum
Ketaminum [INN-Latin]
Ketanest
Ketoject
Ketolar
L-Ketamine
LS-57301
MLS001331674
MolPort-001-838-070
NCGC00159480-02
NCGC00159480-03
NINDS_000217
NMDA
NSC 70151
NSC70151
SMR000238141
Special K
Special K [street name]
Special k
T385
Tekam
Tekam (TN)
UNII-690G0D6V8H
dl-Ketamine
ketamine
l-Ketamine
2
Fentanylapproved, illicit, investigationalPhase 4649437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Abstral
Actiq
BIDD:GT0555
BRN 0494484
CHEBI:119915
CHEMBL596
CID3345
D00320
DB00813
Duragesic
Duragesic (TN)
Duragesic-100
Duragesic-12
Duragesic-25
Duragesic-50
Duragesic-75
Durogesic
EINECS 207-113-6
Fentanest
Fentanil
Fentanil [DCIT]
Fentanila
Fentanila [INN-Spanish]
Fentanilo
Fentanyl
Fentanyl (JAN/USAN/INN)
Fentanyl - Novaplus
Fentanyl Citrate
Fentanyl [INN:BAN]
Fentanyl citrate
Fentanyl-100
 
Fentanyl-12
Fentanyl-25
Fentanyl-50
Fentanyl-75
Fentanylum
Fentanylum [INN-Latin]
HSDB 3329
IONSYS
JNS020QD
L001275
LS-124439
Lazanda
Matrifen
MolPort-003-847-369
N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-Phenethyl-4-piperidyl)propionanilide
N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide
N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
NCGC00168252-01
Nasalfent
Oprea1_152073
Oprea1_207148
PDSP1_000860
PDSP2_000846
Pentanyl
Phentanyl
Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
R 4263
Rapinyl
Sentonil
Sublimase
Sublimaze
Subsys
UNII-UF599785JZ
fentanyl
3
CapsaicinPhase 4138404-86-41548943
Synonyms:
(6E)-N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
(6E)-N-{[4-hydroxy-3-(methyloxy)phenyl]methyl}-8-methylnon-6-enamide
(E)-8-Methyl-N-vanillyl-6-nonenamide
(E)-8-Methyl-N-vanillyl-6-nonenamide(8cl)
(E)-Capsaicin
(E)-N-((4-Hydroxy-3-methoxyphenyl)-methyl)-8-methyl-6-nonenamide
(E)-N-[(4-hydroxy-3-methoxyphenyl)methyl]-8-methylnon-6-enamide
(E)8-methyl-N-vanillyl-6-Nonenamide
12084_FLUKA
21748_FLUKA
21748_SIGMA
21750_FLUKA
21750_SIGMA
360376_ALDRICH
360376_SIGMA
404-86-4
6-Nonenamide, (E)-N-((4-hydroxy-3-methoxy-phenyl)methyl)-8-methyl
6-Nonenamide, 8-methyl-N-vanillyl-, (E)- (8CI)
8 Methyl N Vanillyl 6 Nonenamide
8-Methyl-N-Vanillyl-6-Nonenamide
8-Methyl-N-vanillyl-trans-6-nonenamide
912457-62-6
AC1LU7K3
AC1Q46B3
Alacan Brand of Capsaicin
Antiphlogistine Rub A-535 Capsaicin
Axsain
BPBio1_001053
BRD-K37056290-001-01-1
BRD-K50590187-001-06-6
BRN 2816484
BSPBio_000957
BSPBio_001548
BSPBio_002917
Bio-0615
C-1700
C06866
C18H27NO3
CAPSAICIN (2444-46-4 NONIVAMIDE (SYNTHETIC CAPSAICIN))
CAPSAICINE
CCRIS 1588
CHEBI:3374
CHEMBL294199
CID1548943
Capsaicin
Capsaicin (JAN/USP)
Capsaicin (Natural)
Capsaicin (in oleoresin of capsicum)
Capsaicin (jan/usp)
Capsaicin Patch
Capsaicin [USAN]
Capsaicin [in oleoresin of capsicum]
Capsaicin [usan]
Capsicum Farmaya
Capsidol
Capsin
Capzasin
Carter Horner Brand of Capsaicin
Caswell No. 158
Centrum Brand of Capsaicin
D002211
D00250
E-CAPSAICIN
E-Capsaicin
EINECS 206-969-8
EPA Pesticide Chemical Code 070701
Elan Brand of Capsaicin
FEMA No. 3404
FT-0082538
Flemming Brand of Capsaicin
Gelcen
HMS1361N10
HMS1570P19
HMS1791N10
HMS1921H11
HMS1989N10
 
HMS2089N11
HMS2092D21
HMS501B16
HSDB 954
I01-2469
IDI1_000354
IDI1_034018
Isodecenoate
Isodecenoic acid
Isodecenoic acid vanillylamide
Katrum
LS-2138
Link Brand of Capsaicin
M1149
M2028_SIGMA
MEGxp0_001448
MLS002154049
MR3H3
Medicis Brand of Capsaicin
MolPort-001-742-263
N-(4-Hydroxy-3-methoxybenzyl)-8-methylnon-trans-6-enamide
N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
N-[(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
N-[(4-hydroxy-3-methoxy-phenyl)methyl]nonanamide
NCGC00090853-01
NCGC00090853-02
NCGC00090853-03
NCGC00090853-04
NCGC00090853-06
NCGC00090853-07
NCGC00090853-08
NCGC00090853-09
NCI-C56564
NGX 4010
NGX-1998
NGX-3781
NGX-4010
NGX-7325
NGX4010
NSC 56353
NSC56353
Prestwick2_000879
Prestwick3_000879
Prestwick_204
Qutenza
S1990_Selleck
SDCCGMLS-0066678.P001
SMP2_000337
SMR000718774
SPECTRUM1501128
Smaller Brand of Capsaicin
Spectrum5_000538
Styptysat
TL8002946
TQ-1018
Thompson Brand of Capsaicin
Transacin
UNII-S07O44R1ZM
UPCMLD-DP092
UPCMLD-DP092:001
UPCMLD-DP092:002
Vinas Brand of Capsaicin
ZINC01530575
ZOSTRIX (TN)
Zacin
Zostrix
Zostrix (TN)
Zostrix HP
[(E)-N-(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
depletes Substance P
epsilon-Capsaicin
n-(4-hydroxy-3-methoxybenzyl)-8-methyl-6-nonenamide
nchembio.146-comp1
nchembio862-comp2
neurotoxic
trans-8-Methyl-N-vanillyl-6-nonenamide
trans-Capsaicin
4HopsNutraceutical30

Interventional clinical trials:

idNameStatusNCT IDPhase
1Sensory Examination and Pharmacological Modulation of Oral Hyperexcitability in Patients With Atypical Odontalgia and Matched Healthy ControlsCompletedNCT00115102Phase 4
2Investigation of the Acute Cognitive, Mood and Autonomic Effects of Hops in Healthy ParticipantsCompletedNCT01376869

Search NIH Clinical Center for Atelosteogenesis

Genetic Tests for Atelosteogenesis

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Anatomical Context for Atelosteogenesis

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MalaCards organs/tissues related to Atelosteogenesis:

33
Bone

Animal Models for Atelosteogenesis or affiliated genes

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MGI Mouse Phenotypes related to Atelosteogenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8COMP, FGFR3, FLNB, SLC26A2
2MP:00053908.3COMP, FGFR3, FLNA, FLNB, SLC26A2
3MP:00053787.2COMP, DNM2, FGFR3, FLNA, FLNB, FLNC

Publications for Atelosteogenesis

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Articles related to Atelosteogenesis:

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

Variations for Atelosteogenesis

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Clinvar genetic disease variations for Atelosteogenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FLNBNM_001457.3(FLNB): c.517G> A (p.Ala173Thr)single nucleotide variantPathogenicrs587777259GRCh37Chr 3, 58062997: 58062997
2FLNBNM_001457.3(FLNB): c.442T> A (p.Trp148Arg)single nucleotide variantPathogenicrs80356493GRCh37Chr 3, 58062922: 58062922
3FLNBNM_001457.3(FLNB): c.4747_4749delGAC (p.Asp1583del)deletionPathogenicrs80356498GRCh37Chr 3, 58121781: 58121783
4FLNBNM_001457.3(FLNB): c.542G> T (p.Gly181Val)single nucleotide variantPathogenicrs80356495GRCh37Chr 3, 58064444: 58064444
5FLNBNM_001457.3(FLNB): c.549C> G (p.Cys183Trp)single nucleotide variantPathogenicrs80356496GRCh37Chr 3, 58064451: 58064451
6FLNBNM_001457.3(FLNB): c.608A> C (p.Gln203Pro)single nucleotide variantPathogenicrs80356497GRCh37Chr 3, 58064510: 58064510
7FLNBNM_001457.3(FLNB): c.512T> A (p.Leu171Gln)single nucleotide variantPathogenicrs80356494GRCh37Chr 3, 58062992: 58062992
8FLNBNM_001457.3(FLNB): c.518C> T (p.Ala173Val)single nucleotide variantPathogenicrs121908894GRCh37Chr 3, 58062998: 58062998
9FLNBNM_001457.3(FLNB): c.604A> G (p.Met202Val)single nucleotide variantPathogenicrs121908895GRCh37Chr 3, 58064506: 58064506

Expression for genes affiliated with Atelosteogenesis

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Search GEO for disease gene expression data for Atelosteogenesis.

Pathways for genes affiliated with Atelosteogenesis

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GO Terms for genes affiliated with Atelosteogenesis

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.4COL9A2, COMP, GPC6
2actin cytoskeletonGO:00156299.2ARPC1A, FLNA, FLNB
3focal adhesionGO:00059258.3DNM2, FGFR3, FLNA, FLNB, FLNC
4plasma membraneGO:00058866.9DNM2, FGFR3, FLNA, FLNB, FLNC, GPC6

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of substrate adhesion-dependent cell spreadingGO:19000269.9DNM2, FLNA
2actin cytoskeleton organizationGO:00300369.1ARPC1A, FLNA, FLNB
3skeletal system developmentGO:00015018.7COL9A2, COMP, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1heparan sulfate proteoglycan bindingGO:004339510.1COMP, GPC6
2actin filament bindingGO:00510159.1ARPC1A, FLNA, FLNC
3actin bindingGO:00037799.0ARPC1A, FLNB, FLNC

Sources for Atelosteogenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet