AO3
MCID: ATL012
MIFTS: 29

Atelosteogenesis, Type Iii (AO3)

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

Aliases & Classifications for Atelosteogenesis, Type Iii

MalaCards integrated aliases for Atelosteogenesis, Type Iii:

Name: Atelosteogenesis, Type Iii 57 13
Atelosteogenesis Type 3 53 25 59 29 6 73
Aoiii 57 53 25 59 75
Ao3 57 53 59 75
Atelosteogenesis Type Iii 25 59 75
Atelosteogenesis 3 75

Characteristics:

Orphanet epidemiological data:

59
atelosteogenesis type iii
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atelosteogenesis, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 108721
Orphanet 59 ORPHA56305
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 74 C3668942
MeSH 44 D010009
UMLS 73 C3668942

Summaries for Atelosteogenesis, Type Iii

NIH Rare Diseases : 53 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 cleft palate and prominent occiput

Genetics Home Reference : 25 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 : 75 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 11.1
2 larsen syndrome 10.9
3 atelosteogenesis 10.2
4 otopalatodigital syndrome, type ii 9.9
5 skeletal dysplasias 9.9

Graphical network of the top 20 diseases related to Atelosteogenesis, Type Iii:



Diseases related to Atelosteogenesis, Type Iii

Symptoms & Phenotypes for Atelosteogenesis, Type Iii

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Atelosteogenesis, Type Iii:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 prominent occiput 32 HP:0000269
3 malar flattening 32 HP:0000272
4 hypoplasia of the maxilla 32 HP:0000327
5 micrognathia 32 HP:0000347
6 short neck 32 HP:0000470
7 hitchhiker thumb 32 HP:0001234
8 talipes equinovarus 32 HP:0001762
9 sandal gap 32 HP:0001852
10 frontal bossing 32 HP:0002007
11 scoliosis 32 HP:0002650
12 cervical kyphosis 32 HP:0002947
13 tibial bowing 32 HP:0002982
14 radial bowing 32 HP:0002986
15 elbow dislocation 32 HP:0003042
16 flat acetabular roof 32 HP:0003180
17 horizontal sacrum 32 HP:0003440
18 cervical segmentation defect 32 HP:0004632
19 knee dislocation 32 HP:0004976
20 depressed nasal bridge 32 HP:0005280
21 tombstone-shaped proximal phalanges 32 HP:0006060
22 widened distal phalanges 32 HP:0006200
23 rhizomelia 32 HP:0008905
24 midface retrusion 32 HP:0011800

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 29 FLNB

Anatomical Context for Atelosteogenesis, Type Iii

MalaCards organs/tissues related to Atelosteogenesis, Type Iii:

41
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:

75
# 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.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908895 GRCh38 Chromosome 3, 58078779: 58078779
3 FLNB NM_001457.3(FLNB): c.2251G> C (p.Gly751Arg) single nucleotide variant Likely pathogenic rs28937587 GRCh37 Chromosome 3, 58095354: 58095354
4 FLNB NM_001457.3(FLNB): c.2251G> C (p.Gly751Arg) single nucleotide variant Likely pathogenic rs28937587 GRCh38 Chromosome 3, 58109627: 58109627
5 FLNB NM_001457.3(FLNB): c.4804T> C (p.Ser1602Pro) single nucleotide variant Pathogenic rs80356501 GRCh37 Chromosome 3, 58121838: 58121838
6 FLNB NM_001457.3(FLNB): c.4804T> C (p.Ser1602Pro) single nucleotide variant Pathogenic rs80356501 GRCh38 Chromosome 3, 58136111: 58136111
7 FLNB NM_001457.3(FLNB): c.4927G> T (p.Ala1643Ser) single nucleotide variant Pathogenic rs80356502 GRCh37 Chromosome 3, 58124074: 58124074
8 FLNB NM_001457.3(FLNB): c.4927G> T (p.Ala1643Ser) single nucleotide variant Pathogenic rs80356502 GRCh38 Chromosome 3, 58138347: 58138347
9 FLNB NM_001457.3(FLNB): c.602C> T (p.Ala201Val) single nucleotide variant Pathogenic rs80356499 GRCh37 Chromosome 3, 58064504: 58064504
10 FLNB NM_001457.3(FLNB): c.602C> T (p.Ala201Val) single nucleotide variant Pathogenic rs80356499 GRCh38 Chromosome 3, 58078777: 58078777
11 FLNB NM_001457.3(FLNB): c.629G> T (p.Gly210Val) single nucleotide variant Pathogenic rs80356500 GRCh37 Chromosome 3, 58064531: 58064531
12 FLNB NM_001457.3(FLNB): c.629G> T (p.Gly210Val) single nucleotide variant Pathogenic rs80356500 GRCh38 Chromosome 3, 58078804: 58078804

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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