MCID: ATL001
MIFTS: 27

Atelosteogenesis malady

Summaries for Atelosteogenesis

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47OMIM, 33MalaCards
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MalaCards: 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 Amino acid and oligopeptide SLC transporters and Cytosolic sulfonation of small molecules. The compounds oxalate and iodide have been mentioned in the context of this disorder.

Description from OMIM:47 108720,108721,256050

Aliases & Classifications for Atelosteogenesis

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 47OMIM
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Aliases & Descriptions:

atelosteogenesis 8 10
atelosteogenesis, type 1 61


External Ids:

Disease Ontology8 DOID:0050648

Related Diseases for Atelosteogenesis

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Atelosteogenesis:



Diseases related to atelosteogenesis

Clinical Features for Atelosteogenesis

Sources:
47OMIM
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Clinical features from OMIM:

108720,108721,256050

Drugs & Therapeutics for Atelosteogenesis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Atelosteogenesis

Drug clinical trials:

Search ClinicalTrials for Atelosteogenesis

Search NIH Clinical Center for Atelosteogenesis

Search CenterWatch for Atelosteogenesis

Genetic Tests for Atelosteogenesis

Anatomical Context for Atelosteogenesis

Animal Models for Atelosteogenesis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Atelosteogenesis

Sources:
51PubMed
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Articles related to Atelosteogenesis:

(show all 36)
idTitleAuthorsYear
1
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. (23401428)
2013
2
Atelosteogenesis type I: autopsy findings. (21985323)
2011
3
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. (21077202)
2010
4
Prenatal sonographic features of fetal atelosteogenesis type 1. (19643794)
2009
5
Fetal MR imaging of atelosteogenesis type II (AO-II). (18716767)
2008
6
Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. (18792994)
2008
7
Mutations in two regions of FLNB result in atelosteogenesis I and III. (16752402)
2006
8
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. (16642506)
2006
9
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. (16052470)
2005
10
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (15316973)
2004
11
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. (12454961)
2002
12
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. (10076882)
1999
13
Atelosteogenesis type 2. (9475095)
1998
14
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. (9779808)
1998
15
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. (9843047)
1998
16
Atelosteogenesis syndromes: a review, with comments on their pathogenesis. (9133349)
1997
17
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
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
A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum? (8781111)
1996
20
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. (8931695)
1996
21
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
22
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. (7632220)
1994
23
Atelosteogenesis type III: a case report. (8008496)
1994
24
Atelosteogenesis Type 2 (20301493)
1993
25
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. (8291529)
1993
26
Atelosteogenesis type 1. (8373337)
1993
27
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. (1442028)
1992
28
Atelosteogenesis type II: sonographic and radiological correlation. (1279661)
1992
29
Atelosteogenesis I and boomerang dysplasia: a question of nosology. (1863996)
1991
30
A case of atelosteogenesis. (2325095)
1990
31
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. (2368807)
1990
32
Variant of atelosteogenesis? Report of a 20-week fetus. (3400734)
1988
33
Atelosteogenesis: evidence for heterogeneity. (3562108)
1987
34
Antenatal diagnosis of frontal cephalocele in a fetus with atelosteogenesis. (3514934)
1986
35
Atelosteogenesis. (6420296)
1984
36
Atelosteogenesis. (7137218)
1982

Genetic Variations for Atelosteogenesis

Expression for genes affiliated with Atelosteogenesis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atelosteogenesis

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Pathways for genes affiliated with Atelosteogenesis

Sources:
54Reactome, 12EMD Millipore
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Compounds for genes affiliated with Atelosteogenesis

Sources:
45Novoseek, 24HMDB
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Compounds related to Atelosteogenesis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oxalate459.1SLC26A2, SLC26A1, SLC26A5
2iodide45 2410.1SLC26A5, SLC26A1, SLC26A2
3formate459.0SLC26A2, SLC26A1, SLC26A5
4chloride459.0SLC26A2, SLC26A1, SLC26A5
5bicarbonate458.9SLC26A5, SLC26A1, SLC26A2
6sulfate45 249.7SLC26A2, SLC26A1, SLC26A5

GO Terms for genes affiliated with Atelosteogenesis

Sources:
16Gene Ontology
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Biological processes related to Atelosteogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate biosynthetic processGO:0504289.6SLC26A2, SLC26A1
2xenobiotic metabolic processGO:0068059.6SLC26A2, SLC26A1
33-phosphoadenosine 5-phosphosulfate metabolic processGO:0504279.5SLC26A1, SLC26A2
4glycosaminoglycan metabolic processGO:0302039.3SLC26A2, SLC26A1
5sulfate transportGO:0082729.1SLC26A2, SLC26A1, SLC26A5

Molecular functions related to Atelosteogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transporter activityGO:0151169.6SLC26A2, SLC26A1
2secondary active sulfate transmembrane transporter activityGO:0082718.7SLC26A2, SLC26A1, SLC26A5

Products for genes affiliated with Atelosteogenesis

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Sources for Atelosteogenesis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet