MCID: ATL001
MIFTS: 32

Atelosteogenesis malady

Genetic diseases, Bone diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Atelosteogenesis

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21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.

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:47 256050,108720,108721

Aliases & Classifications for Atelosteogenesis

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8Disease Ontology, 10DISEASES, 62UMLS, 47OMIM
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Classifications:



Aliases & Descriptions:

atelosteogenesis 8 10
atelosteogenesis, type 1 62


External Ids:

Disease Ontology8 DOID:0050648

Related Diseases for Atelosteogenesis

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

256050,108720,108721

Drugs & Therapeutics for Atelosteogenesis

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Atelosteogenesis:

33
Bone

Animal Models for Atelosteogenesis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Atelosteogenesis:

37
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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52PubMed
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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, 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

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Compounds for genes affiliated with Atelosteogenesis

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

idCompoundScoreTop Affiliating Genes
1oxalate459.2SLC26A5, SLC26A2
2iodide45 2410.2SLC26A2, SLC26A5
3formate459.1SLC26A5, SLC26A2
4chloride459.1SLC26A2, SLC26A5
5bicarbonate459.0SLC26A2, SLC26A5
6sulfate45 249.8SLC26A2, SLC26A5

GO Terms for genes affiliated with Atelosteogenesis

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet