AO1
MCID: ATL011
MIFTS: 42

Atelosteogenesis, Type I (AO1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Atelosteogenesis, Type I

MalaCards integrated aliases for Atelosteogenesis, Type I:

Name: Atelosteogenesis, Type I 57 38
Atelosteogenesis Type I 42 58 75 73 28 5
Giant Cell Chondrodysplasia 57 19 42 58 73
Aoi 57 19 42 58 73
Spondylohumerofemoral Hypoplasia 57 19 42 73
Atelosteogenesis Type 1 19 42 58
Infantile Apnea 19 58 75
Ao1 57 58 73
Apnea of Infancy 19 58
Spondylo-Humero-Femoral Dysplasia 58
Apnea in Full-Term Infants 58
Atelosteogenesis, Type 1 71
Atelosteogenesis 1 73
Infant Apnea 71

Characteristics:


Inheritance:

Atelosteogenesis, Type I: Autosomal dominant 57
Atelosteogenesis Type I: Autosomal dominant 58

Prevelance:

Atelosteogenesis Type I: <1/1000000 (Worldwide) 58

Age Of Onset:

Atelosteogenesis Type I: Antenatal,Neonatal 58
Infantile Apnea: Infancy,Neonatal 58

Age Of Death:

Atelosteogenesis Type I: infantile,stillbirth 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
de novo mutation
all cases have been stillborn or immediate neonatal death


Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Atelosteogenesis, Type I

MedlinePlus Genetics: 42 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.Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.

MalaCards based summary: Atelosteogenesis, Type I, also known as atelosteogenesis type i, is related to atelosteogenesis and osteochondrodysplasia. An important gene associated with Atelosteogenesis, Type I is FLNB (Filamin B). The drugs Anesthetics and Analgesics, Opioid have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotypes are talipes equinovarus and brachydactyly

OMIM®: 57 Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). (108720) (Updated 24-Oct-2022)

Orphanet 58 Atelosteogenesis type i: A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

Infantile apnea: Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.

UniProtKB/Swiss-Prot: 73 A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue.

GARD: 19 A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

Wikipedia 75 Atelosteogenesis type i: Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and... more...

Infantile apnea: Infantile apnea is a rare disease that is characterized by cessation of breathing in an infant for at... more...

Related Diseases for Atelosteogenesis, Type I

Diseases in the Atelosteogenesis family:

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

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 atelosteogenesis 10.5
2 osteochondrodysplasia 10.3
3 butyrylcholinesterase deficiency 10.2
4 sudden infant death syndrome 10.2
5 boomerang dysplasia 10.2
6 cleft palate, isolated 10.2
7 laryngostenosis 10.2
8 flnb disorders 10.2
9 atelosteogenesis, type iii 10.0
10 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
11 hypertelorism 10.0
12 larsen syndrome 10.0
13 pectus excavatum 10.0
14 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
15 down syndrome 10.0
16 atelosteogenesis, type ii 10.0
17 otopalatodigital syndrome, type ii 10.0
18 melnick-needles syndrome 10.0
19 brachydactyly 10.0
20 respiratory failure 10.0
21 exophthalmos 10.0
22 bronchopulmonary dysplasia 10.0
23 talipes equinovarus 10.0
24 mirage syndrome 10.0
25 sleep apnea 10.0
26 tracheomalacia 10.0
27 lethal chondrodysplasia 10.0
28 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
29 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9
30 resting heart rate, variation in 9.9
31 adult respiratory distress syndrome 9.9
32 visual epilepsy 9.9
33 cerebral palsy 9.9
34 homocystinuria 9.9
35 esotropia 9.9
36 47 xxx syndrome 9.9
37 apnea, obstructive sleep 9.8
38 gastroesophageal reflux 9.8
39 tobacco addiction 9.8
40 cardiomyopathy, familial hypertrophic, 1 9.8
41 leigh syndrome 9.8
42 ceroid lipofuscinosis, neuronal, 5 9.8
43 hypertrophic cardiomyopathy 9.8
44 lactic acidosis 9.8
45 mitochondrial dna-associated leigh syndrome 9.8
46 posttransplant acute limbic encephalitis 9.8
47 apnea of prematurity 9.8

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



Diseases related to Atelosteogenesis, Type I

Symptoms & Phenotypes for Atelosteogenesis, Type I

Human phenotypes related to Atelosteogenesis, Type I:

58 30 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001762
2 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
3 narrow chest 58 30 Frequent (33%) Frequent (79-30%)
HP:0000774
4 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0011800
5 pulmonary hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002089
6 rhizomelia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008905
7 abnormality of fibula morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002991
8 coronal cleft vertebrae 58 30 Very rare (1%) Frequent (79-30%)
HP:0003417
9 short femur 58 30 Frequent (33%) Frequent (79-30%)
HP:0003097
10 abnormal ossification involving the femoral head and neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0009107
11 absent or minimally ossified vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0004599
12 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
13 hypertelorism 58 30 Very rare (1%) Occasional (29-5%)
HP:0000316
14 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
15 micrognathia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000347
16 low-set ears 58 30 Very rare (1%) Occasional (29-5%)
HP:0000369
17 polyhydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001561
18 platyspondyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000926
19 multiple renal cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005562
20 proptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000520
21 joint dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001373
22 telecanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000506
23 retinal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007973
24 enlarged cisterna magna 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002280
25 laryngotracheal stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004894
26 neonatal short-trunk short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008857
27 malrotation of colon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004785
28 abnormal pancreatic duct morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030992
29 thoracic hypoplasia 58 30 Very rare (1%) Frequent (79-30%)
HP:0005257
30 limb undergrowth 58 30 Very rare (1%) Frequent (79-30%)
HP:0009826
31 depressed nasal bridge 30 Very rare (1%) HP:0005280
32 talipes 30 Very rare (1%) HP:0001883
33 elbow dislocation 30 Very rare (1%) HP:0003042
34 short finger 30 Very rare (1%) HP:0009381
35 fibular aplasia 30 Very rare (1%) HP:0002990
36 protuberant abdomen 30 Very rare (1%) HP:0001538
37 bell-shaped thorax 30 Very rare (1%) HP:0001591
38 knee dislocation 30 Very rare (1%) HP:0004976
39 long clavicles 30 Very rare (1%) HP:0000890
40 vertebral hypoplasia 30 Very rare (1%) HP:0008417
41 laryngeal stenosis 58 30 Occasional (29-5%)
HP:0001602
42 frontal bossing 30 HP:0002007
43 short neck 30 HP:0000470
44 short nose 30 HP:0003196
45 cryptorchidism 30 HP:0000028
46 malar flattening 30 HP:0000272
47 premature birth 30 HP:0001622
48 short metacarpal 30 HP:0010049
49 encephalocele 30 HP:0002084
50 fused cervical vertebrae 30 HP:0002949

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Face:
frontal bossing
micrognathia
midface hypoplasia

Head And Neck Nose:
depressed nasal bridge
hypoplastic nose

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
short metacarpals
poor ossifications of metacarpal and proximal, middle phalanges
well-ossified distal phalanges

Skeletal Limbs:
elbow dislocation
rhizomelic limb shortening
short humeri with proximal clubbing and distal tapering
short, bowed radius
absent-hypoplastic ulnae
more
Skeletal Spine:
fused cervical vertebrae
thoracic platyspondyly
abnormal segmentation
coronal clefts
sagittal clefts

Respiratory Larynx:
laryngeal stenosis

Head And Neck Eyes:
prominent globes
edematous eyelids

Prenatal Manifestations Delivery:
stillborn
premature delivery

Head And Neck Neck:
short neck

Head And Neck Mouth:
cleft palate

Skeletal Feet:
talipes equinovarus
short metatarsals

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
encephalocele

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Growth Height:
short-limbed dwarfism

Chest External Features:
narrow thoracic cage

Laboratory Abnormalities:
giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage

Clinical features from OMIM®:

108720 (Updated 24-Oct-2022)

Drugs & Therapeutics for Atelosteogenesis, Type I

Drugs for Atelosteogenesis, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics
2 Analgesics, Opioid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Apneic Oxygénation by Nasal Canula During Infants Airway Management Study Unknown status NCT03967769
2 Interventions to Help Infants and Children Recover in the Hospital Terminated NCT03881553

Search NIH Clinical Center for Atelosteogenesis, Type I

Genetic Tests for Atelosteogenesis, Type I

Genetic tests related to Atelosteogenesis, Type I:

# Genetic test Affiliating Genes
1 Atelosteogenesis Type I 28 FLNB

Anatomical Context for Atelosteogenesis, Type I

Organs/tissues related to Atelosteogenesis, Type I:

MalaCards : Bone, Heart, Eye, Skin, Brain, Colon

Publications for Atelosteogenesis, Type I

Articles related to Atelosteogenesis, Type I:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. 62 57 5
24624349 2014
2
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 57 5
14991055 2004
3
"Giant cell" chondrodysplasia. 62 57
6614050 1983
4
Two lethal chondrodysplasias with giant chondrocytes. 62 57
6614049 1983
5
Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia. 62 57
6753583 1982
6
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. 57
8291529 1993
7
Atelosteogenesis I and boomerang dysplasia: a question of nosology. 57
1863996 1991
8
A case of atelosteogenesis. 57
2325095 1990
9
Atelosteogenesis: evidence for heterogeneity. 57
3562108 1987
10
de la Chapelle dysplasia. 57
3799721 1986
11
Atelosteogenesis. 57
7137218 1982
12
Neonatal osseous dysplasia I: 2nd report. 57
7163263 1982
13
New forms of neonatal death dwarfism. Report of 3 cases. 57
7194471 1981
14
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach. 62
33255942 2020
15
Etiologies of apnea of infancy. 62
32289209 2020
16
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. 62
30231296 2018
17
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. 62
29797497 2018
18
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. 62
23401428 2013
19
Effects of prenatal exposure to cigarette smoke on use of xanthine and pneumogram evaluation at discharge in premature infants. 62
21961800 2012
20
Atelosteogenesis type I: autopsy findings. 62
21985323 2011
21
Practice parameters for the respiratory indications for polysomnography in children. 62
21359087 2011
22
[Results of the use of laparoscopic anti-reflux procedure for the prevention of episodes of apnea, bradycardia and desaturation]. 62
23155664 2010
23
Maternally inherited Leigh syndrome: an unusual cause of infantile apnea. 62
19669818 2010
24
Prenatal sonographic features of fetal atelosteogenesis type 1. 62
19643794 2009
25
Algorithms for sleep-wake identification using actigraphy: a comparative study and new results. 62
19250177 2009
26
[Central sleep apnea syndrome]. 62
18363194 2008
27
Cry analysis in infants resuscitated for apnea of infancy. 62
17493692 2007
28
Mutations in two regions of FLNB result in atelosteogenesis I and III. 62
16752402 2006
29
Sleep architecture in term and preterm infants beyond the neonatal period: the influence of gestational age, steroids, and ventilatory support. 62
16335484 2005
30
Altered laryngeal sensation: a potential cause of apnea of infancy. 62
15895779 2005
31
Occipital projections in the skeletal dysplasias. 62
15107965 2004
32
Prenatal diagnosis of boomerang dysplasia. 62
12955767 2003
33
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. 62
12454961 2002
34
Glucose transporter 1 deficiency syndrome and other glycolytic defects. 62
12597052 2002
35
Update on gastroesophageal reflux and respiratory disease in children. 62
10694286 2000
36
The VIIIth ESPID Conference (European Society for the Study and Prevention of Infant Death), the International Conference on Prevention of Infantile Apnea and Sudden Infant Death on the Verge of the Millenium. Jerusalem, Israel, May 30-June 3, 1999. Abstracts. 62
10372207 1999
37
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. 62
9779808 1998
38
Decreased growth hormone response to glucagon in infants after an apnea of infancy. 62
9544900 1998
39
Developmental patterns of heart rate and variability in infants with persistent apnea of infancy. 62
9548029 1998
40
Antenatal diagnosis of lethal skeletal dysplasias. 62
9489797 1998
41
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. 62
9409862 1997
42
Reflux associated apnea in infants: evidence for a laryngeal chemoreflex. 62
9422636 1997
43
A model study of periodic breathing, stability of the neonatal respiratory system, and causes of sudden infant death syndrome. 62
9394903 1997
44
Infant polysomnography: reliability. Collaborative Home Infant Monitoring Evaluation (CHIME) Steering Committee. 62
9322271 1997
45
Atelosteogenesis syndromes: a review, with comments on their pathogenesis. 62
9133349 1997
46
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. 62
9024569 1997
47
Apnea of infancy, seizures, and gastroesophageal reflux: an important but infrequent association. 62
8881984 1996
48
Familial infantile apnea and immature beta oxidation. 62
8545168 1995
49
Assessment of compliance with home cardiorespiratory monitoring in infants at risk of sudden infant death syndrome. Collaborative Home Infant Monitoring Evaluation (CHIME). 62
7658267 1995
50
The effect of antihistamines on the laryngeal chemoreflex. 62
7630300 1995

Variations for Atelosteogenesis, Type I

ClinVar genetic disease variations for Atelosteogenesis, Type I:

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNB NM_001457.4(FLNB):c.518C>T (p.Ala173Val) SNV Pathogenic
6400 rs121908894 GRCh37: 3:58062998-58062998
GRCh38: 3:58077271-58077271
2 FLNB NM_001457.4(FLNB):c.604A>G (p.Met202Val) SNV Pathogenic
6401 rs121908895 GRCh37: 3:58064506-58064506
GRCh38: 3:58078779-58078779
3 FLNB NM_001457.4(FLNB):c.4807C>T (p.Pro1603Ser) SNV Pathogenic
1685823 GRCh37: 3:58121841-58121841
GRCh38: 3:58136114-58136114
4 FLNB NM_001457.4(FLNB):c.517G>A (p.Ala173Thr) SNV Pathogenic
126375 rs587777259 GRCh37: 3:58062997-58062997
GRCh38: 3:58077270-58077270
5 FLNB NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) SNV Uncertain Significance
289425 rs886044175 GRCh37: 3:58118535-58118535
GRCh38: 3:58132808-58132808
6 FLNB NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) SNV Uncertain Significance
1426840 GRCh37: 3:58120417-58120417
GRCh38: 3:58134690-58134690
7 FLNB NM_001457.4(FLNB):c.808A>G (p.Met270Val) SNV Uncertain Significance
252548 rs145036794 GRCh37: 3:58080583-58080583
GRCh38: 3:58094856-58094856
8 FLNB NM_001457.4(FLNB):c.1486G>T (p.Gly496Cys) SNV Uncertain Significance
1319293 GRCh37: 3:58089688-58089688
GRCh38: 3:58103961-58103961
9 FLNB NM_001457.4(FLNB):c.776C>T (p.Ala259Val) SNV Uncertain Significance
346301 rs376619286 GRCh37: 3:58067492-58067492
GRCh38: 3:58081765-58081765
10 FLNB NM_001457.4(FLNB):c.3616A>G (p.Met1206Val) SNV Uncertain Significance
1030455 rs756396172 GRCh37: 3:58109309-58109309
GRCh38: 3:58123582-58123582
11 FLNB NM_001457.4(FLNB):c.4585T>C (p.Ser1529Pro) SNV Uncertain Significance
1030456 rs770433500 GRCh37: 3:58120413-58120413
GRCh38: 3:58134686-58134686
12 FLNB NM_001457.4(FLNB):c.906+3A>G SNV Uncertain Significance
1030457 rs750429255 GRCh37: 3:58080684-58080684
GRCh38: 3:58094957-58094957
13 FLNB NM_001457.4(FLNB):c.5524T>C (p.Phe1842Leu) SNV Uncertain Significance
1031983 rs1178860596 GRCh37: 3:58131746-58131746
GRCh38: 3:58146019-58146019
14 FLNB NM_001457.4(FLNB):c.6643A>G (p.Ser2215Gly) SNV Uncertain Significance
1031984 rs2097350829 GRCh37: 3:58140526-58140526
GRCh38: 3:58154799-58154799
15 FLNB NM_001457.4(FLNB):c.4805C>A (p.Ser1602Tyr) SNV Uncertain Significance
1333671 GRCh37: 3:58121839-58121839
GRCh38: 3:58136112-58136112
16 FLNB NM_001457.4(FLNB):c.608A>C (p.Gln203Pro) SNV Not Provided
21294 rs80356497 GRCh37: 3:58064510-58064510
GRCh38: 3:58078783-58078783
17 FLNB NM_001457.4(FLNB):c.549C>G (p.Cys183Trp) SNV Not Provided
21291 rs80356496 GRCh37: 3:58064451-58064451
GRCh38: 3:58078724-58078724
18 FLNB NM_001457.4(FLNB):c.542G>T (p.Gly181Val) SNV Not Provided
21290 rs80356495 GRCh37: 3:58064444-58064444
GRCh38: 3:58078717-58078717
19 FLNB NM_001457.4(FLNB):c.512T>A (p.Leu171Gln) SNV Not Provided
38344 rs80356494 GRCh37: 3:58062992-58062992
GRCh38: 3:58077265-58077265
20 FLNB NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del) DEL Not Provided
21284 rs80356498 GRCh37: 3:58121780-58121782
GRCh38: 3:58136053-58136055
21 FLNB NM_001457.4(FLNB):c.442T>A (p.Trp148Arg) SNV Not Provided
21282 rs80356493 GRCh37: 3:58062922-58062922
GRCh38: 3:58077195-58077195

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

73
# Symbol AA change Variation ID SNP ID
1 FLNB p.Ala173Val VAR_033072 rs121908894
2 FLNB p.Ser188Pro VAR_033073
3 FLNB p.Met202Val VAR_033074 rs121908895

Expression for Atelosteogenesis, Type I

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

Pathways for Atelosteogenesis, Type I

GO Terms for Atelosteogenesis, Type I

Sources for Atelosteogenesis, Type I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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