MCID: ATL012
MIFTS: 29

Atelosteogenesis, Type Iii

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

Aliases & Classifications for Atelosteogenesis, Type Iii

MalaCards integrated aliases for Atelosteogenesis, Type Iii:

Name: Atelosteogenesis, Type Iii 53 13
Atelosteogenesis Type 3 49 24 55 28 69
Aoiii 53 49 24 55 71
Ao3 53 49 55 71
Atelosteogenesis Type Iii 24 55 71
Atelosteogenesis 3 71

Characteristics:

Orphanet epidemiological data:

55
atelosteogenesis type iii
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
atelosteogenesis, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 108721
Orphanet 55 ORPHA56305
UMLS via Orphanet 70 C3668942
ICD10 via Orphanet 33 Q78.8
MeSH 41 D010009
UMLS 69 C3668942

Summaries for Atelosteogenesis, Type Iii

NIH Rare Diseases : 49 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. Last updated: 7/1/2013

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

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.)

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 atelosteogenesis 10.2
3 blood group, i system 9.9
4 skeletal dysplasias 9.9

Symptoms & Phenotypes for Atelosteogenesis, Type Iii

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 short neck 31 HP:0000470
3 frontal bossing 31 HP:0002007
4 scoliosis 31 HP:0002650
5 depressed nasal bridge 31 HP:0005280
6 cleft palate 31 HP:0000175
7 micrognathia 31 HP:0000347
8 prominent occiput 31 HP:0000269
9 rhizomelia 31 HP:0008905
10 hypoplasia of the maxilla 31 HP:0000327
11 sandal gap 31 HP:0001852
12 elbow dislocation 31 HP:0003042
13 talipes equinovarus 31 HP:0001762
14 midface retrusion 31 HP:0011800
15 flat acetabular roof 31 HP:0003180
16 tibial bowing 31 HP:0002982
17 radial bowing 31 HP:0002986
18 knee dislocation 31 HP:0004976
19 cervical kyphosis 31 HP:0002947
20 horizontal sacrum 31 HP:0003440
21 hitchhiker thumb 31 HP:0001234
22 tombstone-shaped proximal phalanges 31 HP:0006060
23 widened distal phalanges 31 HP:0006200
24 cervical segmentation defect 31 HP:0004632

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 28 FLNB

Anatomical Context for Atelosteogenesis, Type Iii

MalaCards organs/tissues related to Atelosteogenesis, Type Iii:

38
Bone, Testes, Eye

Publications for Atelosteogenesis, Type Iii

Articles related to Atelosteogenesis, Type Iii:

# Title Authors Year
1
Atelosteogenesis type III: orthopedic management. ( 27258362 )
2016
2
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. ( 10076882 )
1999
3
Atelosteogenesis type III: a case report. ( 8008496 )
1994
4
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. ( 1442028 )
1992
5
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.4804T> C (p.Ser1602Pro) single nucleotide variant Pathogenic rs80356501 GRCh37 Chromosome 3, 58121838: 58121838
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.602C> T (p.Ala201Val) single nucleotide variant Pathogenic rs80356499 GRCh37 Chromosome 3, 58064504: 58064504
4 FLNB NM_001457.3(FLNB): c.629G> T (p.Gly210Val) single nucleotide variant Pathogenic rs80356500 GRCh37 Chromosome 3, 58064531: 58064531
5 FLNB NM_001457.3(FLNB): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908895 GRCh37 Chromosome 3, 58064506: 58064506
6 FLNB NM_001457.3(FLNB): c.2251G> C (p.Gly751Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28937587 GRCh37 Chromosome 3, 58095354: 58095354

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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