AO2
MCID: ATL015
MIFTS: 42

Atelosteogenesis, Type Ii (AO2)

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

MalaCards integrated aliases for Atelosteogenesis, Type Ii:

Name: Atelosteogenesis, Type Ii 57 75 53 38
De La Chapelle Dysplasia 57 19 42 58 28 5 71
Atelosteogenesis Type 2 24 19 42 58 71
Ao2 57 19 42 58 73
Atelosteogenesis Type Ii 58 73 28 5
Neonatal Osseous Dysplasia 1 19 42 73
Aoii 57 19 58
Atelosteogenesis Ii 19 12
Atelosteogenesis De La Chapelle Type 42
Neonatal Osseous Dysplasia Type 1 58
Neonatal Osseous Dysplasia Type I 73
Neonatal Osseous Dysplasia I 57
Atelosteogenesis, Type 2 42
Mcalister Dysplasia 42
Atelosteogenesis 2 73
Ao-Ii 73

Characteristics:


Inheritance:

Atelosteogenesis, Type Ii: Autosomal recessive 57
Atelosteogenesis Type Ii: Autosomal recessive 58

Prevelance:

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

Age Of Onset:

Atelosteogenesis Type Ii: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to diastrophic dysplasia , achondrogenesis, type 1b , and multiple epiphyseal dysplasia, type 4


Classifications:

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


External Ids:

OMIM® 57 256050
OMIM Phenotypic Series 57 PS108720
MeSH 43 D010009
MESH via Orphanet 44 C535395
ICD10 via Orphanet 32 Q77.5
UMLS via Orphanet 72 C0432203 C1850554 C1850555
Orphanet 58 ORPHA56304
UMLS 71 C1850554 C1850555

Summaries for Atelosteogenesis, Type Ii

MedlinePlus Genetics: 42 Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.

MalaCards based summary: Atelosteogenesis, Type Ii, also known as de la chapelle dysplasia, is related to atelosteogenesis and diastrophic dysplasia. An important gene associated with Atelosteogenesis, Type Ii is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include bone, lung and respiratory system-lung, and related phenotypes are short neck and abnormal facial shape

GARD: 19 Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of Atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

Orphanet: 58 A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

UniProtKB/Swiss-Prot: 73 A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.

Wikipedia: 75 Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and... more...

More information from OMIM: 256050 PS108720
GeneReviews: NBK1317

Related Diseases for Atelosteogenesis, Type Ii

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



Diseases related to Atelosteogenesis, Type Ii

Symptoms & Phenotypes for Atelosteogenesis, Type Ii

Human phenotypes related to Atelosteogenesis, Type Ii:

58 30 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
2 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
3 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
4 metatarsus adductus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001840
5 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
6 sandal gap 58 30 Frequent (33%) Frequent (79-30%)
HP:0001852
7 narrow chest 58 30 Frequent (33%) Frequent (79-30%)
HP:0000774
8 short metacarpal 58 30 Frequent (33%) Frequent (79-30%)
HP:0010049
9 bilateral talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001776
10 short lower limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0006385
11 pulmonary hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002089
12 tibial torsion 58 30 Frequent (33%) Frequent (79-30%)
HP:0100694
13 short phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0009803
14 tracheobronchomalacia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002786
15 laryngeal stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001602
16 camptodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0012385
17 bell-shaped thorax 58 30 Frequent (33%) Frequent (79-30%)
HP:0001591
18 short ribs 58 30 Frequent (33%) Frequent (79-30%)
HP:0000773
19 short femur 58 30 Frequent (33%) Frequent (79-30%)
HP:0003097
20 broad metacarpals 58 30 Frequent (33%) Frequent (79-30%)
HP:0001230
21 upper limb undergrowth 58 30 Frequent (33%) Frequent (79-30%)
HP:0009824
22 rhizomelic arm shortening 58 30 Frequent (33%) Frequent (79-30%)
HP:0004991
23 thoracolumbar kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003423
24 equinovarus deformity 58 30 Frequent (33%) Frequent (79-30%)
HP:0008110
25 ulnar deviation of the hand or of fingers of the hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0001193
26 hitchhiker thumb 58 30 Very rare (1%) Frequent (79-30%)
HP:0001234
27 broad phalanx 58 30 Frequent (33%) Frequent (79-30%)
HP:0006009
28 dumbbell-shaped femur 58 30 Frequent (33%) Frequent (79-30%)
HP:0006375
29 laryngeal cartilage malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008752
30 increased femoral anteversion 30 Frequent (33%) HP:0012427
31 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
32 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
33 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
34 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
35 elbow flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002987
36 polyhydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001561
37 thin upper lip vermilion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000219
38 long philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000343
39 telecanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000506
40 micromelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002983
41 hypoplastic cervical vertebrae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008434
42 midface retrusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011800
43 plagiocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001357
44 cervical kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002947
45 protuberant abdomen 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001538
46 wide nasal base 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012810
47 facial midline hemangioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004664
48 bilateral cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100337
49 elbow dislocation 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003042
50 increased intervertebral space 30 Very rare (1%) HP:0030320

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
platyspondyly
lumbar hyperlordosis
cervical kyphosis
horizontal sacrum
more
Respiratory Lung:
respiratory insufficiency
pulmonary hypoplasia

Head And Neck Face:
micrognathia
midface hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
small thorax

Prenatal Manifestations Delivery:
stillborn or death shortly after birth

Laboratory Abnormalities:
lacunar halos around chondrocytes in skeletal cartilage

Head And Neck Neck:
short neck

Head And Neck Mouth:
cleft palate

Skeletal Limbs:
talipes equinovarus
severe micromelia
bifid distal humerus
short, dumbbell femur
abducted thumbs and great toes
more
Skeletal Pelvis:
shortened sacroiliac notches
round-shaped iliac bones
flat acetabulae

Head And Neck Nose:
flattened nasal bridge

Clinical features from OMIM®:

256050 (Updated 08-Dec-2022)

Drugs & Therapeutics for Atelosteogenesis, Type Ii

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

Genetic Tests for Atelosteogenesis, Type Ii

Genetic tests related to Atelosteogenesis, Type Ii:

# Genetic test Affiliating Genes
1 Atelosteogenesis Type Ii 28 SLC26A2
2 De La Chapelle Dysplasia 28

Anatomical Context for Atelosteogenesis, Type Ii

Organs/tissues related to Atelosteogenesis, Type Ii:

MalaCards : Bone, Lung
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Atelosteogenesis, Type Ii

Articles related to Atelosteogenesis, Type Ii:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 53 62 24 57 5
8571951 1996
2
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 62 24 57 5
18708426 2008
3
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 62 24 57 5
8931695 1996
4
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 53 62 57 5
15316973 2004
5
[A rare lethal bone dysplasia with recessive autosomic transmission]. 24 57 5
4644462 1972
6
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 53 62 24 5
16642506 2006
7
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 62 24 5
21077202 2010
8
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 62 24 5
15294877 2004
9
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 62 24 5
11448940 2001
10
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 62 24 5
11241838 2001
11
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 62 24 5
9342225 1997
12
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. 62 24 57
8723100 1996
13
Atelosteogenesis: evidence for heterogeneity. 62 24 57
3562108 1987
14
de la Chapelle dysplasia. 62 24 57
3799721 1986
15
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 24 5
9637425 1998
16
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 24 5
7923357 1994
17
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. 62 5
23840040 2013
18
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 62 5
21155763 2011
19
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 62 5
12966518 2003
20
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. 53 62 24
11457925 2001
21
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 62 5
10465113 1999
22
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. 53 62 24
9575183 1998
23
Atelosteogenesis type II: sonographic and radiological correlation. 62 57
1279661 1992
24
Neonatal osseous dysplasia I: 2nd report. 62 57
7163263 1982
25
Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing. 5
31218223 2019
26
Multiple SLC26A2 mutations occurring in a three-generational family. 5
29024831 2018
27
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 5
27065010 2016
28
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. 5
26375458 2015
29
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 5
21922596 2012
30
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. 5
22052783 2011
31
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 5
21077204 2010
32
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 5
20592910 2010
33
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 5
20219950 2010
34
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 5
20525296 2010
35
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 5
18925670 2008
36
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 62 24
15703192 2005
37
Diastrophic Dysplasia 5
20301524 2004
38
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 5
12525546 2003
39
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 5
11565064 2001
40
Sulphate transporter gene mutations in apparently isolated club foot. 5
11303514 2001
41
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 5
10482955 1999
42
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. 62 24
9822202 1998
43
Atelosteogenesis type 2. 62 24
9475095 1998
44
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 5
8528239 1996
45
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. 57
2368807 1990
46
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
47
Nosology and classification of genetic skeletal disorders: 2019 revision. 24
31633310 2019
48
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
49
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
50
Pathogenetics of the human SLC26 transporters. 53 62
15720248 2005

Variations for Atelosteogenesis, Type Ii

ClinVar genetic disease variations for Atelosteogenesis, Type Ii:

5 (show top 50) (show all 440)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) SNV Pathogenic
Uncertain Significance
4090 rs104893917 GRCh37: 5:149359920-149359920
GRCh38: 5:149980357-149980357
2 SLC26A2 NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys) SNV Pathogenic
4099 rs121908078 GRCh37: 5:149360691-149360691
GRCh38: 5:149981128-149981128
3 SLC26A2 NM_000112.4(SLC26A2):c.699+2T>C SNV Pathogenic
371684 rs1057517461 GRCh37: 5:149357916-149357916
GRCh38: 5:149978353-149978353
4 SLC26A2 NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter) SNV Pathogenic
655153 rs1429562386 GRCh37: 5:149357912-149357912
GRCh38: 5:149978349-149978349
5 SLC26A2 NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) INDEL Pathogenic
967713 rs1755093032 GRCh37: 5:149360781-149360806
GRCh38: 5:149981218-149981243
6 SLC26A2 NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) DEL Pathogenic
189077 rs786204675 GRCh37: 5:149357664-149357664
GRCh38: 5:149978101-149978101
7 SLC26A2 NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) DUP Pathogenic
Likely Pathogenic
371758 rs1057517511 GRCh37: 5:149360692-149360693
GRCh38: 5:149981129-149981130
8 SLC26A2 NM_000112.4(SLC26A2):c.391del (p.Leu131fs) DEL Pathogenic
Likely Pathogenic
4088 rs786200881 GRCh37: 5:149357604-149357604
GRCh38: 5:149978041-149978041
9 SLC26A2 NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) SNV Pathogenic
56026 rs386833507 GRCh37: 5:149357270-149357270
GRCh38: 5:149977707-149977707
10 SLC26A2 NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) SNV Pathogenic
550571 rs1554095364 GRCh37: 5:149360920-149360920
GRCh38: 5:149981357-149981357
11 SLC26A2 NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) DEL Pathogenic
558379 rs1481910744 GRCh37: 5:149361082-149361082
GRCh38: 5:149981519-149981519
12 SLC26A2 NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) DEL Pathogenic
Likely Pathogenic
371773 rs1057517524 GRCh37: 5:149359889-149359892
GRCh38: 5:149980326-149980329
13 SLC26A2 NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) MICROSAT Pathogenic
553407 rs1554095154 GRCh37: 5:149357788-149357791
GRCh38: 5:149978225-149978228
14 SLC26A2 NM_000112.4(SLC26A2):c.1994dup (p.His665fs) DUP Pathogenic
1285445 GRCh37: 5:149361149-149361150
GRCh38: 5:149981586-149981587
15 SLC26A2 NM_000112.4(SLC26A2):c.1810_1811del (p.Val604fs) DEL Pathogenic
1388388 GRCh37: 5:149360965-149360966
GRCh38: 5:149981402-149981403
16 SLC26A2 NM_000112.4(SLC26A2):c.1393_1394del (p.Leu465fs) DEL Pathogenic
1402115 GRCh37: 5:149360547-149360548
GRCh38: 5:149980984-149980985
17 SLC26A2 NM_000112.4(SLC26A2):c.78_88dup (p.Glu30fs) DUP Pathogenic
1454165 GRCh37: 5:149357282-149357283
GRCh38: 5:149977719-149977720
18 SLC26A2 NM_000112.4(SLC26A2):c.1272dup (p.Asn425Ter) DUP Pathogenic
1456395 GRCh37: 5:149360427-149360428
GRCh38: 5:149980864-149980865
19 SLC26A2 NM_000112.4(SLC26A2):c.1155del (p.Asp385fs) DEL Pathogenic
1436633 GRCh37: 5:149360311-149360311
GRCh38: 5:149980748-149980748
20 SLC26A2 NM_000112.4(SLC26A2):c.1306del (p.Thr436fs) DEL Pathogenic
1456546 GRCh37: 5:149360462-149360462
GRCh38: 5:149980899-149980899
21 SLC26A2 NM_000112.4(SLC26A2):c.1147_1150del (p.Val382_Ala383insTer) DEL Pathogenic
1452842 GRCh37: 5:149360301-149360304
GRCh38: 5:149980738-149980741
22 SLC26A2 NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs) DUP Pathogenic
1453498 GRCh37: 5:149357270-149357271
GRCh38: 5:149977707-149977708
23 SLC26A2 NM_000112.4(SLC26A2):c.218del (p.Lys73fs) DEL Pathogenic
1453606 GRCh37: 5:149357429-149357429
GRCh38: 5:149977866-149977866
24 SLC26A2 NM_000112.4(SLC26A2):c.100del (p.Glu34fs) DEL Pathogenic
1453452 GRCh37: 5:149357313-149357313
GRCh38: 5:149977750-149977750
25 SLC26A2 NM_000112.4(SLC26A2):c.438del (p.Phe146fs) DEL Pathogenic
557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
26 SLC26A2 NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) DUP Pathogenic
964035 rs1755018682 GRCh37: 5:149357352-149357353
GRCh38: 5:149977789-149977790
27 SLC26A2 NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic
Pathogenic
4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
28 SLC26A2 NM_000112.4(SLC26A2):c.374A>T (p.Gln125Leu) SNV Pathogenic
226418 rs875989951 GRCh37: 5:149357589-149357589
GRCh38: 5:149978026-149978026
29 SLC26A2 NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) DUP Pathogenic
656557 rs769859976 GRCh37: 5:149357646-149357647
GRCh38: 5:149978083-149978084
30 SLC26A2 NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) MICROSAT Pathogenic
Likely Pathogenic
371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
31 SLC26A2 NM_000112.4(SLC26A2):c.819del (p.Leu275fs) DEL Pathogenic
935588 rs750882937 GRCh37: 5:149359974-149359974
GRCh38: 5:149980411-149980411
32 SLC26A2 NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) DEL Pathogenic
971526 rs1459144096 GRCh37: 5:149357226-149357230
GRCh38: 5:149977663-149977667
33 SLC26A2 NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) DUP Pathogenic
Likely Pathogenic
371749 rs1057517504 GRCh37: 5:149357449-149357450
GRCh38: 5:149977886-149977887
34 SLC26A2 NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs) DUP Pathogenic
1070678 GRCh37: 5:149360591-149360592
GRCh38: 5:149981028-149981029
35 SLC26A2 NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) SNV Pathogenic
56012 rs386833493 GRCh37: 5:149360313-149360313
GRCh38: 5:149980750-149980750
36 SLC26A2 NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) SNV Pathogenic
928888 rs1755094376 GRCh37: 5:149360811-149360811
GRCh38: 5:149981248-149981248
37 SLC26A2 NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs) MICROSAT Pathogenic
436750 rs1554095433 GRCh37: 5:149361276-149361277
GRCh38: 5:149981713-149981714
38 SLC26A2 NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) DEL Pathogenic
56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
39 SLC26A2 NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) SNV Pathogenic
835924 rs771098555 GRCh37: 5:149360499-149360499
GRCh38: 5:149980936-149980936
40 SLC26A2 NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) DEL Pathogenic
856738 rs1755089179 GRCh37: 5:149360586-149360586
GRCh38: 5:149981023-149981023
41 SLC26A2 NM_000112.4(SLC26A2):c.1714del (p.Leu572fs) DEL Pathogenic
1070109 GRCh37: 5:149360869-149360869
GRCh38: 5:149981306-149981306
42 SLC26A2 NM_000112.4(SLC26A2):c.1441del (p.Ser481fs) DEL Pathogenic
557077 rs745774620 GRCh37: 5:149360592-149360592
GRCh38: 5:149981029-149981029
43 SLC26A2 NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter) SNV Pathogenic
1071456 GRCh37: 5:149360402-149360402
GRCh38: 5:149980839-149980839
44 SLC26A2 NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) SNV Pathogenic
550616 rs1554095397 GRCh37: 5:149361143-149361143
GRCh38: 5:149981580-149981580
45 SLC26A2 NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) DEL Pathogenic
Likely Pathogenic
371722 rs762137330 GRCh37: 5:149361138-149361138
GRCh38: 5:149981575-149981575
46 SLC26A2 NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) DEL Pathogenic
960730 rs780990131 GRCh37: 5:149360575-149360575
GRCh38: 5:149981012-149981012
47 SLC26A2 NM_000112.4(SLC26A2):c.796dup (p.Thr266fs) DUP Pathogenic
1326262 GRCh37: 5:149359951-149359952
GRCh38: 5:149980388-149980389
48 SLC26A2 NM_000112.4(SLC26A2):c.1203_1204insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTTTCT (p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer) INSERT Pathogenic
1374813 GRCh37: 5:149360354-149360355
GRCh38: 5:149980791-149980792
49 SLC26A2 NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs) DUP Pathogenic
1378416 GRCh37: 5:149360551-149360552
GRCh38: 5:149980988-149980989
50 SLC26A2 NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) SNV Pathogenic
942484 rs905644652 GRCh37: 5:149360933-149360933
GRCh38: 5:149981370-149981370

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

73
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Gly255Glu VAR_007434 rs104893917
2 SLC26A2 p.Arg279Trp VAR_007435 rs104893915
3 SLC26A2 p.Ala715Val VAR_007439 rs104893918

Expression for Atelosteogenesis, Type Ii

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

Pathways for Atelosteogenesis, Type Ii

GO Terms for Atelosteogenesis, Type Ii

Sources for Atelosteogenesis, Type Ii

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
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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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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