MCID: ATL001
MIFTS: 36

Atelosteogenesis malady

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

Aliases & Classifications for Atelosteogenesis

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Aliases & Descriptions for Atelosteogenesis:

Name: Atelosteogenesis 11 27 13
 
Atelosteogenesis, Type 1 68

Classifications:



External Ids:

Disease Ontology11 DOID:0050648

Summaries for Atelosteogenesis

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MalaCards based summary: Atelosteogenesis, also known as atelosteogenesis, type 1, is related to atelosteogenesis, type i and atelosteogenesis, type iii. An important gene associated with Atelosteogenesis is FLNB (Filamin B), and among its related pathways are ECM proteoglycans and Delta508-CFTR traffic / ER-to-Golgi in CF. Affiliated tissues include bone, and related mouse 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

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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 32)
idRelated DiseaseScoreTop Affiliating Genes
1atelosteogenesis, type i12.4
2atelosteogenesis, type iii12.4
3atelosteogenesis ii12.3
4boomerang dysplasia11.2
5cold-induced sweating syndrome10.2GPC6, SLC26A2
6treacher collins syndrome 110.2FLNB, SLC26A2
7acromesomelic dysplasia10.1COL9A2, SLC26A2
8autosomal dominant nonsyndromic deafness 6810.1DNM2, SLC26A2
9diastrophic dysplasia10.1
10myopia, x-linked10.1COL9A2, COMP
11skeletal dysplasias10.0
12skeletal dysplasia10.0
13pityriasis rubra pilaris10.0COMP, FLNB, SLC26A2
14gingival fibromatosis10.0COMP, FLNB, SLC26A2
15osteopetrosis10.0COL9A2, COMP
16achondrogenesis ib10.0COMP, SLC26A2
17immunodeficiency 3010.0COL9A2, COMP, SLC26A2
18intermediate uveitis10.0COL9A2, COMP, SLC26A2
19hypogonadotropic hypogonadism 18 with or without anosmia9.9DNM2, FLNA, FLNB, SLC26A2
20phosphoglycerate dehydrogenase deficiency9.9FLNA, FLNB, FLNC
21muenke syndrome9.8COMP, FGFR3
22sp7-related osteogenesis imperfecta9.8COMP, FGFR3, SLC26A2
23combined oxidative phosphorylation deficiency 29.8FGFR3, SLC26A2
24vulvovaginitis9.7FGFR3, FLNA, FLNB, SLC26A2
25otopalatodigital syndrome, type ii9.7
26melnick-needles syndrome9.7
27otopalatodigital syndrome9.7
28inflammatory bowel disease 149.7ARPC1A, DNM2, FLNA, FLNC
29bone structure disease9.7COL9A2, COMP, FGFR3, SLC26A2
30neuropathy, distal hereditary motor, type iia9.7COMP, FGFR3, FLNA, SLC26A2
31slti salem syndrome9.5COMP, FGFR3, FLNA, FLNB, SLC26A2
32vitelliform macular dystrophy8.7ARPC1A, COL9A2, COMP, DNM2, FGFR3, FLNA

Graphical network of the top 20 diseases related to Atelosteogenesis:



Diseases related to atelosteogenesis

Symptoms & Phenotypes for Atelosteogenesis

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-19.0FGFR3, FLNA, FLNC, GPC6
2GR00210-A9.0ARPC1A, FGFR3, FLNC, GPC6

MGI Mouse Phenotypes related to Atelosteogenesis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0DNM2, FGFR3, FLNA, FLNB, SLC26A2
2MP:00053718.8COL9A2, COMP, FGFR3, FLNB, SLC26A2
3MP:00053787.8COMP, DNM2, FGFR3, FLNA, FLNB, FLNC
4MP:00053907.6COL9A2, COMP, FGFR3, FLNA, FLNB, SLC26A2

Drugs & Therapeutics for Atelosteogenesis

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Fentanylapproved, illicit, investigational, vet_approvedPhase 4821437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
1-phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
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 CII
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
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-phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-phenethyl-4-piperidyl)propionanilide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropionamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
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
UNII-UF599785JZ
fentanyl
2
CapsaicinapprovedPhase 4176404-86-41548943
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
3
Ketamineapproved, vet_approvedPhase 45696740-88-13821
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 HCL
Ketaject
Ketalar
Ketalar base
Ketamina
Ketamine (INN)
Ketamine Base
Ketamine HCL
Ketamine [INN:BAN]
Ketaminum
Ketaminum [INN-Latin]
Ketanest
Ketoject
Ketolar
Kétamine
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]
T385
Tekam
Tekam (TN)
UNII-690G0D6V8H
dl-Ketamine
ketamine
l-Ketamine
4Excitatory Amino AcidsPhase 41362
5NarcoticsPhase 43646
6Peripheral Nervous System AgentsPhase 423689
7Neurotransmitter AgentsPhase 418340
8Excitatory Amino Acid AntagonistsPhase 41347
9Central Nervous System DepressantsPhase 413403
10Analgesics, OpioidPhase 43238
11AnalgesicsPhase 411733
12Adjuvants, AnesthesiaPhase 41674
13AnestheticsPhase 49596
14Anesthetics, DissociativePhase 4544
15Anesthetics, IntravenousPhase 42538
16Anesthetics, GeneralPhase 42934
17Autonomic Agents10150
18HopsNutraceutical39

Interventional clinical trials:

idNameStatusNCT IDPhase
1Sensory Examination and Pharmacological Modulation of Oral Hyperexcitability in Patients With Atypical Odontalgia and Matched Healthy ControlsCompletedNCT00115102Phase 4
2Clinical Evaluation of ACUVUE® OASYS® 1-Day and ACUVUE® OASYS®CompletedNCT02696317
3ACUVUE® OASYS® 1-DAY vs DAILIES TOTAL1®CompletedNCT02750813
4Investigation 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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Genetic tests related to Atelosteogenesis:

id Genetic test Affiliating Genes
1 Atelosteogenesis27

Anatomical Context for Atelosteogenesis

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MalaCards organs/tissues related to Atelosteogenesis:

36
Bone

Publications for Atelosteogenesis

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Articles related to Atelosteogenesis:

(show all 38)
idTitleAuthorsYear
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
Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. (18792994)
2008
8
Fetal MR imaging of atelosteogenesis type II (AO-II). (18716767)
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
Atelosteogenesis syndromes: a review, with comments on their pathogenesis. (9133349)
1997
20
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
21
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. (8931695)
1996
22
A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum? (8781111)
1996
23
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
24
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. (7632220)
1994
25
Atelosteogenesis type III: a case report. (8008496)
1994
26
Atelosteogenesis Type 2 (20301493)
1993
27
Atelosteogenesis type 1. (8373337)
1993
28
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. (8291529)
1993
29
Atelosteogenesis type II: sonographic and radiological correlation. (1279661)
1992
30
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. (1442028)
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

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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
1actin cytoskeletonGO:00156299.9ARPC1A, FLNA, FLNB
2extracellular matrixGO:00310129.9COMP, FLNA, FLNB
3Z discGO:00300189.1FLNA, FLNB, FLNC
4cytoskeletonGO:00058568.9ARPC1A, DNM2, FLNA, FLNB, FLNC
5focal adhesionGO:00059258.4DNM2, FGFR3, FLNA, FLNB, FLNC

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.2DNM2, FLNA
2cell junction assemblyGO:003432910.0FLNA, FLNC
3skeletal system developmentGO:00015018.7COL9A2, COMP, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.8ARPC1A, FLNA, FLNB
2heparan sulfate proteoglycan bindingGO:00433959.6COMP, GPC6
3actin filament bindingGO:00510159.2ARPC1A, FLNA, FLNC

Sources for Atelosteogenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet