MCID: ATL001
MIFTS: 26

Atelosteogenesis malady

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

Aliases & Classifications for Atelosteogenesis

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Atelosteogenesis, Aliases & Descriptions:

Name: Atelosteogenesis 9 11
 
Atelosteogenesis, Type 1 60


Classifications:



External Ids:

Disease Ontology9 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 atelosteogenesis, type i. An important gene associated with Atelosteogenesis is FLNB (filamin B, beta). The compounds oxalate and iodide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Related Diseases for Atelosteogenesis

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Graphical network of diseases related to Atelosteogenesis:



Diseases related to atelosteogenesis

Symptoms for Atelosteogenesis

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Drugs & Therapeutics for Atelosteogenesis

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Drug clinical trials:

Search ClinicalTrials for Atelosteogenesis

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:

31
Bone

Animal Models for Atelosteogenesis or affiliated genes

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MGI Mouse Phenotypes related to Atelosteogenesis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0SLC26A2, FLNB
2MP:00053718.7SLC26A2, FLNB
3MP:00053788.4SLC26A5, SLC26A2, FLNB

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FLNBNM_001457.3(FLNB): c.517G> A (p.Ala173Thr)single nucleotide variantPathogenicGRCh37Chr 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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Compounds for genes affiliated with Atelosteogenesis

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Atelosteogenesis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1oxalate439.2SLC26A5, SLC26A2
2iodide43 2410.2SLC26A2, SLC26A5
3formate439.1SLC26A5, SLC26A2
4chloride439.1SLC26A2, SLC26A5
5bicarbonate439.0SLC26A2, SLC26A5
6sulfate43 249.8SLC26A2, SLC26A5

GO Terms for genes affiliated with Atelosteogenesis

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

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:00082719.1SLC26A5, SLC26A2

Products for genes affiliated with Atelosteogenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Atelosteogenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet