MCID: ATL001
MIFTS: 32

Atelosteogenesis malady

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

Summaries for Atelosteogenesis

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48OMIM, 34MalaCards
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MalaCards: Atelosteogenesis, also known as atelosteogenesis, type 1, is related to diastrophic dysplasia and skeletal dysplasias. 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.

Description from OMIM:48 256050,108720,108721

Aliases & Classifications for Atelosteogenesis

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9Disease Ontology, 11DISEASES, 63UMLS, 48OMIM
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Classifications:



Aliases & Descriptions:

atelosteogenesis 9 11
atelosteogenesis, type 1 63


External Ids:

Disease Ontology9 DOID:0050648

Related Diseases for Atelosteogenesis

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Atelosteogenesis Type 1 family:

atelosteogenesis Atelosteogenesis Type 2
Atelosteogenesis Type 3

Diseases related to Atelosteogenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1diastrophic dysplasia30.4SLC26A2, SLC26A5
2skeletal dysplasias30.4FLNB, SLC26A2
3atelosteogenesis type 210.7
4atelosteogenesis type 110.7
5atelosteogenesis type 310.6
6boomerang dysplasia10.3
7infantile apnea10.0
8melnick-needles syndrome10.0
9achondrogenesis10.0SLC26A5, SLC26A2
10osteochondrodysplasia10.0SLC26A2, FLNB
11pendred syndrome9.9SLC26A2, SLC26A5

Graphical network of diseases related to Atelosteogenesis:



Diseases related to atelosteogenesis

Symptoms for Atelosteogenesis

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48OMIM
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Clinical features from OMIM:

256050,108720,108721

Drugs & Therapeutics for Atelosteogenesis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Atelosteogenesis

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34MalaCards
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MalaCards organs/tissues related to Atelosteogenesis:

34
Bone

Animal Models for Atelosteogenesis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Atelosteogenesis:

38
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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53PubMed
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Articles related to Atelosteogenesis:

(show all 35)
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
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. (7632220)
1994
22
Atelosteogenesis type III: a case report. (8008496)
1994
23
Atelosteogenesis Type 2 (20301493)
1993
24
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. (8291529)
1993
25
Atelosteogenesis type 1. (8373337)
1993
26
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. (1442028)
1992
27
Atelosteogenesis type II: sonographic and radiological correlation. (1279661)
1992
28
Atelosteogenesis I and boomerang dysplasia: a question of nosology. (1863996)
1991
29
A case of atelosteogenesis. (2325095)
1990
30
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. (2368807)
1990
31
Variant of atelosteogenesis? Report of a 20-week fetus. (3400734)
1988
32
Atelosteogenesis: evidence for heterogeneity. (3562108)
1987
33
Antenatal diagnosis of frontal cephalocele in a fetus with atelosteogenesis. (3514934)
1986
34
Atelosteogenesis. (6420296)
1984
35
Atelosteogenesis. (7137218)
1982

Variations for Atelosteogenesis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Atelosteogenesis:

1
id Gene Name Type Significance SNP ID Assembly Location
1FLNBNM_001457.3(FLNB): c.517G> A (p.Ala173Thr)single nucleotide variantPathogenic/card/atelosteogenesisGRCh37Chr 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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2BioGPS, 16Gene 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

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Compounds for genes affiliated with Atelosteogenesis

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46Novoseek, 25HMDB
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Compounds related to Atelosteogenesis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oxalate469.2SLC26A5, SLC26A2
2iodide46 2510.2SLC26A2, SLC26A5
3formate469.1SLC26A5, SLC26A2
4chloride469.1SLC26A2, SLC26A5
5bicarbonate469.0SLC26A2, SLC26A5
6sulfate46 259.8SLC26A2, SLC26A5

GO Terms for genes affiliated with Atelosteogenesis

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17Gene Ontology
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Molecular functions related to Atelosteogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:0082719.1SLC26A5, SLC26A2

Products for genes affiliated with Atelosteogenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atelosteogenesis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet