AO3
MCID: ATL012
MIFTS: 29

Atelosteogenesis, Type Iii (AO3)

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

Aliases & Classifications for Atelosteogenesis, Type Iii

MalaCards integrated aliases for Atelosteogenesis, Type Iii:

Name: Atelosteogenesis, Type Iii 58 13
Atelosteogenesis Type 3 54 26 60 30 6 74
Aoiii 58 54 26 60 76
Ao3 58 54 60 76
Atelosteogenesis Type Iii 26 60 76
Atelosteogenesis 3 76

Characteristics:

Orphanet epidemiological data:

60
atelosteogenesis type iii
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atelosteogenesis, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 108721
MeSH 45 D010009
ICD10 via Orphanet 35 Q78.8
UMLS via Orphanet 75 C3668942
Orphanet 60 ORPHA56305
UMLS 74 C3668942

Summaries for Atelosteogenesis, Type Iii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 56305Disease definitionAtelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.EpidemiologyThe prevalence of AOIII is unknown. Less than 25 affected patients have been reported.Clinical descriptionAOII, like AOI, is characterized by rhizomelic limb shortness, dislocated hip, knee and elbow joints, broad hands and feet with broad digits, club feet, facial dysmorphism (midface hypoplasia, micrognathia, cleft palate). Feeding problems and cardiorespiratory insufficiency are often seen in newborns. Clinical manifestations due to secondary complications past early infancy include learning and language problems and a gross motor developmental delay.EtiologyAtelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties.Diagnostic methodsThe diagnosis is established after a full skeletal x-ray survey and confirmed with genetic testing. AOIII demonstrates less delay of normal ossification compared to AOI.Antenatal diagnosisPrenatal diagnosis is possible by ultrasound from 20 weeks onward and by prenatal genetic testing in case of family history.Genetic counselingMost cases of AOIII are sporadic, but AOIII may be transmitted in an autosomal dominant manner. Affected individuals of which one of the parents presents with a milder phenotype (like Larsen syndrome) (see this term) have been reported. This is likely to be related to a somatic mosaicism in the parents for a mutation that is germline in the offspring.Visit the Orphanet disease page for more resources.

MalaCards based summary : Atelosteogenesis, Type Iii, also known as atelosteogenesis type 3, is related to boomerang dysplasia and larsen syndrome. An important gene associated with Atelosteogenesis, Type Iii is FLNB (Filamin B). Affiliated tissues include bone, testes and eye, and related phenotypes are malar flattening and short neck

Genetics Home Reference : 26 Atelosteogenesis type 3 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. Their hands and feet are wide, with broad fingers and toes that may be permanently bent (camptodactyly) or fused together (syndactyly). Characteristic facial features include a broad forehead, wide-set eyes (hypertelorism), and an underdeveloped nose. About half of affected individuals have an opening in the roof of the mouth (a cleft palate.)

UniProtKB/Swiss-Prot : 76 Atelosteogenesis 3: A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death.

Description from OMIM: 108721

Related Diseases for Atelosteogenesis, Type Iii

Diseases in the Atelosteogenesis family:

Atelosteogenesis, Type I Atelosteogenesis, Type Iii
Atelosteogenesis, Type Ii

Diseases related to Atelosteogenesis, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 boomerang dysplasia 11.2
2 larsen syndrome 11.1
3 atelosteogenesis 10.4
4 otopalatodigital syndrome, type ii 10.1

Symptoms & Phenotypes for Atelosteogenesis, Type Iii

Human phenotypes related to Atelosteogenesis, Type Iii:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 short neck 33 HP:0000470
3 frontal bossing 33 HP:0002007
4 scoliosis 33 HP:0002650
5 depressed nasal bridge 33 HP:0005280
6 cleft palate 33 HP:0000175
7 micrognathia 33 HP:0000347
8 prominent occiput 33 HP:0000269
9 talipes equinovarus 33 HP:0001762
10 rhizomelia 33 HP:0008905
11 hypoplasia of the maxilla 33 HP:0000327
12 sandal gap 33 HP:0001852
13 elbow dislocation 33 HP:0003042
14 midface retrusion 33 HP:0011800
15 flat acetabular roof 33 HP:0003180
16 knee dislocation 33 HP:0004976
17 tibial bowing 33 HP:0002982
18 radial bowing 33 HP:0002986
19 cervical kyphosis 33 HP:0002947
20 horizontal sacrum 33 HP:0003440
21 hitchhiker thumb 33 HP:0001234
22 tombstone-shaped proximal phalanges 33 HP:0006060
23 widened distal phalanges 33 HP:0006200
24 cervical segmentation defect 33 HP:0004632

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
cervical spine segmentation defects
cervical kyphosis

Skeletal Skull:
prominent occiput
hypoplastic maxilla
hypoplastic mandible

Skeletal Limbs:
tibial bowing
radial bowing
rhizomelic shortening
elbow dislocations
club-shaped humeri with early proximal epiphyseal ossification
more
Skeletal Pelvis:
rounded iliac bones with shortened sacrosciatic notches
vertical, block-like ischia
flat acetabular roofs
horizontal sacrum

Head And Neck Face:
frontal bossing
micrognathia
midface hypoplasia

Head And Neck Mouth:
cleft palate

Skeletal Feet:
talipes equinovarus
hitchhiker halluces
widened gap first and second toe

Head And Neck Nose:
flat nasal bridge

Skeletal Hands:
hitchhiker thumb
tombstone-shaped proximal phalanges
widened distal phalanges
bifid digits

Clinical features from OMIM:

108721

Drugs & Therapeutics for Atelosteogenesis, Type Iii

Search Clinical Trials , NIH Clinical Center for Atelosteogenesis, Type Iii

Genetic Tests for Atelosteogenesis, Type Iii

Genetic tests related to Atelosteogenesis, Type Iii:

# Genetic test Affiliating Genes
1 Atelosteogenesis Type 3 30 FLNB

Anatomical Context for Atelosteogenesis, Type Iii

MalaCards organs/tissues related to Atelosteogenesis, Type Iii:

42
Bone, Testes, Eye

Publications for Atelosteogenesis, Type Iii

Articles related to Atelosteogenesis, Type Iii:

# Title Authors Year
1
Long term survival of a pediatric patient affected with atelosteogenesis type 3 in an adult intensive care unit. ( 29651828 )
2018
2
Atelosteogenesis type III: orthopedic management. ( 27258362 )
2016
3
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. ( 10076882 )
1999
4
Atelosteogenesis type III: a case report. ( 8008496 )
1994
5
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. ( 1442028 )
1992
6
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. ( 2368807 )
1990

Variations for Atelosteogenesis, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Atelosteogenesis, Type Iii:

76
# Symbol AA change Variation ID SNP ID
1 FLNB p.Met202Val VAR_033074 rs121908895
2 FLNB p.Gly751Arg VAR_033080 rs28937587

ClinVar genetic disease variations for Atelosteogenesis, Type Iii:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908895 GRCh37 Chromosome 3, 58064506: 58064506
2 FLNB NM_001457.3(FLNB): c.4927G> T (p.Ala1643Ser) single nucleotide variant Pathogenic rs80356502 GRCh37 Chromosome 3, 58124074: 58124074
3 FLNB NM_001457.3(FLNB): c.4804T> C (p.Ser1602Pro) single nucleotide variant Pathogenic rs80356501 GRCh37 Chromosome 3, 58121838: 58121838
4 FLNB NM_001457.3(FLNB): c.4804T> C (p.Ser1602Pro) single nucleotide variant Pathogenic rs80356501 GRCh38 Chromosome 3, 58136111: 58136111
5 FLNB NM_001457.3(FLNB): c.4927G> T (p.Ala1643Ser) single nucleotide variant Pathogenic rs80356502 GRCh38 Chromosome 3, 58138347: 58138347
6 FLNB NM_001457.3(FLNB): c.602C> T (p.Ala201Val) single nucleotide variant Pathogenic rs80356499 GRCh37 Chromosome 3, 58064504: 58064504
7 FLNB NM_001457.3(FLNB): c.602C> T (p.Ala201Val) single nucleotide variant Pathogenic rs80356499 GRCh38 Chromosome 3, 58078777: 58078777
8 FLNB NM_001457.3(FLNB): c.629G> T (p.Gly210Val) single nucleotide variant Pathogenic rs80356500 GRCh37 Chromosome 3, 58064531: 58064531
9 FLNB NM_001457.3(FLNB): c.629G> T (p.Gly210Val) single nucleotide variant Pathogenic rs80356500 GRCh38 Chromosome 3, 58078804: 58078804
10 FLNB NM_001457.3(FLNB): c.2251G> C (p.Gly751Arg) single nucleotide variant Likely pathogenic rs28937587 GRCh38 Chromosome 3, 58109627: 58109627
11 FLNB NM_001457.3(FLNB): c.2251G> C (p.Gly751Arg) single nucleotide variant Likely pathogenic rs28937587 GRCh37 Chromosome 3, 58095354: 58095354
12 FLNB NM_001457.3(FLNB): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908895 GRCh38 Chromosome 3, 58078779: 58078779

Expression for Atelosteogenesis, Type Iii

Search GEO for disease gene expression data for Atelosteogenesis, Type Iii.

Pathways for Atelosteogenesis, Type Iii

GO Terms for Atelosteogenesis, Type Iii

Sources for Atelosteogenesis, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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