MCID: ATL001
MIFTS: 34

Atelosteogenesis malady

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

Aliases & Classifications for Atelosteogenesis

About this section

Aliases & Descriptions for Atelosteogenesis:

Name: Atelosteogenesis 10 12 24
 
Atelosteogenesis, Type 1 65

Classifications:



External Ids:

Disease Ontology10 DOID:0050648
UMLS65 C0265283

Summaries for Atelosteogenesis

About this section
MalaCards based summary: Atelosteogenesis, also known as atelosteogenesis, type 1, is related to atelosteogenesis ii and boomerang dysplasia. An important gene associated with Atelosteogenesis is FLNB (Filamin B), and among its related pathways are ECM proteoglycans and Normal wtCFTR traffic / ER-to-Golgi. Affiliated tissues include bone, heart and brain, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Related Diseases for Atelosteogenesis

About this section

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 top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1atelosteogenesis ii34.1COMP, SLC26A2
2boomerang dysplasia30.2ARPC1A, DNM2, FLNB, SLC26A2
3atelosteogenesis, type i12.7
4atelosteogenesis, type iii12.7
5infantile apnea11.3
6leukemia10.3
7cystic kidney disease10.3
8kidney disease10.3
9ohdo syndrome10.2GPC6, SLC26A2
10epiphyseal dysplasia, multiple, 410.2FLNB, SLC26A2
11hypochondrogenesis10.2COL9A2, SLC26A2
12asthma10.1
13breast cancer10.1
14von hippel-lindau syndrome10.1
15pancreatic cancer10.1
16incontinentia pigmenti10.1
17atherosclerosis10.1
18hemangioma10.1
19liver disease10.1
20nephropathia epidemica10.1
21lymphoma10.1
22apraxia10.1
23colitis10.1
24collagenous colitis10.1
25prolymphocytic leukemia10.1
26nephrotic syndrome10.1
27hemolytic-uremic syndrome10.1
28melanoma10.1
29anxiety disorder10.1
30ovarian cancer10.1
31cervicitis10.1
32capillary hemangioma10.1
33pancreatitis10.1
34myocarditis10.1
35herpes simplex10.1
36carotid artery dissection10.1
37fatty liver disease10.1
38meckel's diverticulum10.1
39encephalitis10.1
40mutyh-associated polyposis10.1
41giant cell myocarditis10.1
42herpes simplex encephalitis10.1
43spinal shock10.1
44ataxia10.1
45multiple pterygium syndrome, dominant10.1COL9A2, COMP
46nut midline carcinoma10.0COMP, FLNB, SLC26A2
47epiphyseal dysplasia, multiple, 19.9COL9A2, COMP, SLC26A2
48respiratory syncytial virus infectious disease9.9COL9A2, COMP, SLC26A2
49hyperphosphatemia9.9FLNA, FLNB
50hajdu-cheney syndrome9.9FLNA, FLNB, FLNC

Graphical network of the top 20 diseases related to Atelosteogenesis:



Diseases related to atelosteogenesis

Symptoms for Atelosteogenesis

About this section

Drugs & Therapeutics for Atelosteogenesis

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
KetamineapprovedPhase 44676740-88-13821
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 4705437-38-73345
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 4144404-86-41548943
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
4HopsNutraceutical31

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
3ACUVUE® OASYS® 1-DAY vs DAILIES TOTAL1®RecruitingNCT02750813
4Clinical Evaluation of ACUVUE® OASYS® 1-Day and ACUVUE® OASYS®Active, not recruitingNCT02696317

Search NIH Clinical Center for Atelosteogenesis

Genetic Tests for Atelosteogenesis

About this section

Anatomical Context for Atelosteogenesis

About this section

MalaCards organs/tissues related to Atelosteogenesis:

33
Bone, Heart, Brain, Adipocyte, Liver, Prostate, Skin

Animal Models for Atelosteogenesis or affiliated genes

About this section

MGI Mouse Phenotypes related to Atelosteogenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4COL9A2, COMP, FGFR3, FLNB, SLC26A2
2MP:00053828.4DNM2, FGFR3, FLNA, FLNB, SLC26A2
3MP:00053907.5COL9A2, COMP, FGFR3, FLNA, FLNB, SLC26A2
4MP:00053787.2COMP, DNM2, FGFR3, FLNA, FLNB, FLNC

Publications for Atelosteogenesis

About this section

Articles related to Atelosteogenesis:

(show all 37)
idTitleAuthorsYear
1
A case of mistaken identity: unilateral erythema elevatum diutinum associated with IgA paraproteinaemia. (25754401)
2015
2
Pancreatic I^-cell-specific ablation of TASK-1 channels augments glucose-stimulated calcium entry and insulin secretion, improving glucose tolerance. (24932805)
2014
3
Abdominal necrotizing fasciitis due to Pasteurella multocida infection. (25651662)
2014
4
Increased leukocyte survival and accelerated onset of lymphoma in the absence of MCL-1 S159-phosphorylation. (24213575)
2014
5
Reduced dose cyclophosphamide, fludarabine and antithymocyte globulin for sibling and unrelated transplant of children with severe and very severe aplastic anemia. (23551397)
2013
6
Pulsed electromagnetic field therapy for management of osteoarthritis-related pain, stiffness and physical function: clinical experience in the elderly. (24106421)
2013
7
Interleukin-10 may protect against progressing injury during the acute phase of ischemic stroke. (24394869)
2013
8
Hemihypoglossal nerve transfer for acute facial paralysis. (23101452)
2013
9
Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5. (24265546)
2013
10
Haematogenous abdominal wall metastasis of differentiated, alpha-fetoprotein-negative hepatocellular carcinoma after previous antiandrogen therapy within a site of lipoma manifestation since childhood. (22647077)
2012
11
US Imaging in Peyronie's Disease. (23230545)
2012
12
Lupoid cutaneous leishmaniasis: a case report. (22984663)
2011
13
Inhibition of GGTase-I and FTase disrupts cytoskeletal organization of human PC-3 prostate cancer cells. (20446922)
2010
14
HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hypercortisolemia. (19651257)
2009
15
Quantitative comparison of active and latent tuberculosis in the cynomolgus macaque model. (19620341)
2009
16
Efficacy of treatment with carbapenems and third-generation cephalosporins for patients with febrile complicated pyelonephritis. (20012730)
2009
17
A G protein-coupled receptor at work: the rhodopsin model. (19836958)
2009
18
Folic acid transport via high affinity carrier-mediated system in human retinoblastoma cells. (18207340)
2008
19
Implication of phosphorylation of the myosin II regulatory light chain in insulin-stimulated GLUT4 translocation in 3T3-F442A adipocytes. (16672772)
2006
20
Altered expression of genes associated with innate immunity and inflammation in recalcitrant rhinosinusitis with polyps. (16686375)
2006
21
Genotype-by-sex interaction in the regulation of high-density lipoprotein: the Framingham Heart Study. (16715837)
2005
22
Effects of human cathelicidin antimicrobial peptide LL-37 on lipopolysaccharide-induced nitric oxide release from rat aorta in vitro. (12631052)
2003
23
Postmenopausal intravenous leiomyomatosis with high levels of estradiol and estrogen receptor. (12423831)
2002
24
The prevalence of uveitis in juvenile rheumatoid arthritis. (11182663)
2001
25
Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat. (11428460)
2001
26
An immunoblot assay for detection of immunoglobulin M antibody to human herpesvirus 6. (10973462)
2000
27
Cavernous hemangioma of the liver: anatomic resection vs. enucleation. (10199314)
1999
28
Pretarsal injections of botulinum toxin improve blepharospasm in previously unresponsive patients. (8648343)
1996
29
Effect of retinoic acid in combination with platelet-derived growth factor-BB or transforming growth factor-beta on tissue inhibitor of metalloproteinases and collagenase secretion from human skin and synovial fibroblasts. (8557779)
1996
30
Case report 860: Bacillary angiomatosis of the calcaneum. (7992119)
1994
31
Multiple phaeochromocytoma with renal artery stenosis or occlusion: report of two cases. (8345502)
1993
32
Pol III-Related Leukodystrophies (22855961)
1993
33
Identification of a new molecular form of human alpha-lactalbumin. (1401360)
1992
34
Pulmonary bombesin in experimentally induced asbestosis in rats. (3996331)
1985
35
Immunosuppressive therapy for progressive ocular cicatricial pemphigoid. (7048180)
1982
36
Malignant mesenchymoma of the retroperitoneum. (5246024)
1968
37

Variations for Atelosteogenesis

About this section

Clinvar genetic disease variations for Atelosteogenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FLNBNM_001457.3(FLNB): c.604A> G (p.Met202Val)single nucleotide variantPathogenicrs121908895GRCh37Chr 3, 58064506: 58064506

Expression for genes affiliated with Atelosteogenesis

About this section
Search GEO for disease gene expression data for Atelosteogenesis.

Pathways for genes affiliated with Atelosteogenesis

About this section

GO Terms for genes affiliated with Atelosteogenesis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510158.9ARPC1A, FLNA, FLNC

Sources for Atelosteogenesis

About this section
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