AO2
MCID: ATL015
MIFTS: 40

Atelosteogenesis, Type Ii (AO2)

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

Aliases & Classifications for Atelosteogenesis, Type Ii

MalaCards integrated aliases for Atelosteogenesis, Type Ii:

Name: Atelosteogenesis, Type Ii 57 73 54 39
De La Chapelle Dysplasia 57 20 43 58 29 6 70
Atelosteogenesis Type Ii 58 72 36 29 6
Atelosteogenesis Type 2 25 20 43 58 70
Ao2 57 20 43 58 72
Neonatal Osseous Dysplasia 1 20 43 72
Aoii 57 20 58
Atelosteogenesis Ii 20 13
Atelosteogenesis De La Chapelle Type 43
Neonatal Osseous Dysplasia Type 1 58
Neonatal Osseous Dysplasia Type I 72
Neonatal Osseous Dysplasia I 57
Atelosteogenesis, Type 2 43
Mcalister Dysplasia 43
Atelosteogenesis 2 72
Ao-Ii 72

Characteristics:

Orphanet epidemiological data:

58
atelosteogenesis type ii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to diastrophic dysplasia , achondrogenesis, type 1b , and multiple epiphyseal dysplasia, type 4


HPO:

31
atelosteogenesis, type ii:
Onset and clinical course death in infancy stillbirth
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Atelosteogenesis, Type Ii

MedlinePlus Genetics : 43 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, type iii and atelosteogenesis. An important gene associated with Atelosteogenesis, Type Ii is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include bone, and related phenotypes are short neck and abnormal facial shape

GARD : 20 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). Atelosteogenesis type 2 causes serious health problems and 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.

KEGG : 36 Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene.

UniProtKB/Swiss-Prot : 72 Atelosteogenesis 2: 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 : 73 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 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
2 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
3 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
4 metatarsus adductus 58 31 frequent (33%) Frequent (79-30%) HP:0001840
5 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
6 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
7 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
8 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
9 bilateral talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001776
10 short lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0006385
11 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
12 tibial torsion 58 31 frequent (33%) Frequent (79-30%) HP:0100694
13 short phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009803
14 tracheobronchomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002786
15 laryngeal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001602
16 camptodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012385
17 bell-shaped thorax 58 31 frequent (33%) Frequent (79-30%) HP:0001591
18 short ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000773
19 short femur 58 31 frequent (33%) Frequent (79-30%) HP:0003097
20 broad metacarpals 58 31 frequent (33%) Frequent (79-30%) HP:0001230
21 upper limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009824
22 rhizomelic arm shortening 58 31 frequent (33%) Frequent (79-30%) HP:0004991
23 thoracolumbar kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0003423
24 equinovarus deformity 58 31 frequent (33%) Frequent (79-30%) HP:0008110
25 ulnar deviation of the hand or of fingers of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0001193
26 hitchhiker thumb 58 31 very rare (1%) Frequent (79-30%) HP:0001234
27 broad phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0006009
28 dumbbell-shaped femur 58 31 frequent (33%) Frequent (79-30%) HP:0006375
29 laryngeal cartilage malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008752
30 excessive femoral anteversion 58 31 frequent (33%) Frequent (79-30%) HP:0012427
31 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
32 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
33 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
34 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
35 elbow flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002987
36 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
37 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
38 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
39 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
40 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
41 hypoplastic cervical vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0008434
42 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
43 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
44 cervical kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002947
45 protuberant abdomen 58 31 occasional (7.5%) Occasional (29-5%) HP:0001538
46 wide nasal base 58 31 occasional (7.5%) Occasional (29-5%) HP:0012810
47 facial midline hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0004664
48 bilateral cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0100337
49 elbow dislocation 58 31 very rare (1%) Very rare (<4-1%) HP:0003042
50 increased intervertebral space 31 very rare (1%) HP:0030320

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
platyspondyly
cervical kyphosis
lumbar hyperlordosis
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 20-May-2021)

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 29 SLC26A2
2 De La Chapelle Dysplasia 29

Anatomical Context for Atelosteogenesis, Type Ii

MalaCards organs/tissues related to Atelosteogenesis, Type Ii:

40
Bone

Publications for Atelosteogenesis, Type Ii

Articles related to Atelosteogenesis, Type Ii:

(show top 50) (show all 65)
# 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. 61 54 57 6 25
8571951 1996
2
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 61 6 25 57
18708426 2008
3
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 57 6 54 61
15316973 2004
4
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 57 6 25
8931695 1996
5
[A rare lethal bone dysplasia with recessive autosomic transmission]. 57 25 6
4644462 1972
6
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 54 61 6 25
16642506 2006
7
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 6 25 61
21077202 2010
8
de la Chapelle dysplasia. 25 57 61
3799721 1986
9
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 25 6
15294877 2004
10
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 6 25
11448940 2001
11
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 25 6
11241838 2001
12
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 6 25
9637425 1998
13
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 25 6
9342225 1997
14
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. 57 25
8723100 1996
15
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 6 25
7923357 1994
16
Atelosteogenesis: evidence for heterogeneity. 25 57
3562108 1987
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. 6 61
23840040 2013
18
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. 54 61 25
11457925 2001
19
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. 25 54 61
9575183 1998
20
Atelosteogenesis type II: sonographic and radiological correlation. 57 61
1279661 1992
21
Multiple SLC26A2 mutations occurring in a three-generational family. 6
29024831 2018
22
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 6
27065010 2016
23
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. 6
26375458 2015
24
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. 6
21922596 2012
25
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. 6
22052783 2011
26
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 6
21155763 2011
27
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 6
21077204 2010
28
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 6
20592910 2010
29
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 6
20219950 2010
30
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. 6
20525296 2010
31
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 6
18925670 2008
32
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 6
12966518 2003
33
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 6
12525546 2003
34
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 6
11565064 2001
35
Sulphate transporter gene mutations in apparently isolated club foot. 6
11303514 2001
36
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 6
10482955 1999
37
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 6
10465113 1999
38
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 6
8528239 1996
39
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. 57
2368807 1990
40
Neonatal osseous dysplasia I: 2nd report. 57
7163263 1982
41
Nosology and classification of genetic skeletal disorders: 2019 revision. 25
31633310 2019
42
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
43
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
44
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 25
15703192 2005
45
Pathogenetics of the human SLC26 transporters. 61 54
15720248 2005
46
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. 25
11727031 2001
47
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. 25
11570921 2001
48
Molecular-pathogenetic classification of genetic disorders of the skeleton. 25
11891680 2001
49
Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus. 25
10552063 1999
50
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. 25
9822202 1998

Variations for Atelosteogenesis, Type Ii

ClinVar genetic disease variations for Atelosteogenesis, Type Ii:

6 (show top 50) (show all 243)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.3(SLC26A2):c.764G>A (p.Gly255Glu) SNV Pathogenic 4090 rs104893917 GRCh37: 5:149359920-149359920
GRCh38: 5:149980357-149980357
2 SLC26A2 NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic 4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
3 SLC26A2 NM_000112.3(SLC26A2):c.1535C>A (p.Thr512Lys) SNV Pathogenic 4099 rs121908078 GRCh37: 5:149360691-149360691
GRCh38: 5:149981128-149981128
4 SLC26A2 NM_000112.3(SLC26A2):c.374A>T (p.Gln125Leu) SNV Pathogenic 226418 rs875989951 GRCh37: 5:149357589-149357589
GRCh38: 5:149978026-149978026
5 SLC26A2 NM_000112.3(SLC26A2):c.699+2T>C SNV Pathogenic 371684 rs1057517461 GRCh37: 5:149357916-149357916
GRCh38: 5:149978353-149978353
6 SLC26A2 NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) SNV Pathogenic 655153 rs1429562386 GRCh37: 5:149357912-149357912
GRCh38: 5:149978349-149978349
7 SLC26A2 NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) Duplication Pathogenic 656557 rs769859976 GRCh37: 5:149357646-149357647
GRCh38: 5:149978083-149978084
8 SLC26A2 NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic 4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
9 SLC26A2 NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) SNV Pathogenic 835924 GRCh37: 5:149360499-149360499
GRCh38: 5:149980936-149980936
10 SLC26A2 NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) Deletion Pathogenic 856738 GRCh37: 5:149360586-149360586
GRCh38: 5:149981023-149981023
11 SLC26A2 NM_000112.4(SLC26A2):c.819del (p.Leu275fs) Deletion Pathogenic 935588 GRCh37: 5:149359974-149359974
GRCh38: 5:149980411-149980411
12 SLC26A2 NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) SNV Pathogenic 942484 GRCh37: 5:149360933-149360933
GRCh38: 5:149981370-149981370
13 SLC26A2 NM_000112.3(SLC26A2):c.438del (p.Phe146fs) Deletion Pathogenic 557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
14 SLC26A2 NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) SNV Pathogenic 371786 rs1057517532 GRCh37: 5:149360216-149360216
GRCh38: 5:149980653-149980653
15 SLC26A2 NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) Deletion Pathogenic 960730 GRCh37: 5:149360575-149360575
GRCh38: 5:149981012-149981012
16 SLC26A2 NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) Duplication Pathogenic 964035 GRCh37: 5:149357352-149357353
GRCh38: 5:149977789-149977790
17 SLC26A2 NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) Indel Pathogenic 967713 GRCh37: 5:149360781-149360806
GRCh38: 5:149981218-149981243
18 SLC26A2 NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) Deletion Pathogenic 971526 GRCh37: 5:149357226-149357230
GRCh38: 5:149977663-149977667
19 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
20 SLC26A2 NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) SNV Pathogenic 495551 rs766836061 GRCh37: 5:149360863-149360863
GRCh38: 5:149981300-149981300
21 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
22 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
23 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
24 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
25 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
26 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
27 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
28 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
29 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
30 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
31 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Likely pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
32 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Likely pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
33 SLC26A2 NM_000112.3(SLC26A2):c.391del (p.Leu131fs) Deletion Likely pathogenic 4088 rs786200881 GRCh37: 5:149357604-149357604
GRCh38: 5:149978041-149978041
34 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Likely pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
35 SLC26A2 NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) Deletion Likely pathogenic 962984 GRCh37: 5:149361106-149361106
GRCh38: 5:149981543-149981543
36 SLC26A2 NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) Deletion Likely pathogenic 951956 GRCh37: 5:149361034-149361034
GRCh38: 5:149981471-149981471
37 SLC26A2 NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs) Microsatellite Likely pathogenic 841272 GRCh37: 5:149361170-149361171
GRCh38: 5:149981607-149981608
38 SLC26A2 NM_000112.3(SLC26A2):c.188del (p.Asp63fs) Deletion Likely pathogenic 371736 rs1057517496 GRCh37: 5:149357403-149357403
GRCh38: 5:149977840-149977840
39 SLC26A2 NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) Deletion Likely pathogenic 371708 rs1057517474 GRCh37: 5:149361109-149361112
GRCh38: 5:149981546-149981549
40 SLC26A2 NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) Deletion Likely pathogenic 56018 rs386833499 GRCh37: 5:149361128-149361128
GRCh38: 5:149981565-149981565
41 SLC26A2 NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) SNV Likely pathogenic 371719 rs1057517483 GRCh37: 5:149357756-149357756
GRCh38: 5:149978193-149978193
42 SLC26A2 NM_000112.3(SLC26A2):c.207del (p.Phe69fs) Deletion Likely pathogenic 371687 rs1057517462 GRCh37: 5:149357420-149357420
GRCh38: 5:149977857-149977857
43 SLC26A2 NM_000112.3(SLC26A2):c.239_243dup (p.Pro82fs) Duplication Likely pathogenic 371749 rs1057517504 GRCh37: 5:149357449-149357450
GRCh38: 5:149977886-149977887
44 SLC26A2 NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) SNV Likely pathogenic 371761 rs1057517514 GRCh37: 5:149359902-149359902
GRCh38: 5:149980339-149980339
45 SLC26A2 NM_000112.3(SLC26A2):c.918del (p.Thr307fs) Deletion Likely pathogenic 371776 rs1057517526 GRCh37: 5:149360074-149360074
GRCh38: 5:149980511-149980511
46 SLC26A2 NM_000112.3(SLC26A2):c.1649del (p.Lys550fs) Deletion Likely pathogenic 371717 rs1057517482 GRCh37: 5:149360803-149360803
GRCh38: 5:149981240-149981240
47 SLC26A2 NM_000112.3(SLC26A2):c.1537_1541dup (p.Ile514fs) Duplication Likely pathogenic 371758 rs1057517511 GRCh37: 5:149360692-149360693
GRCh38: 5:149981129-149981130
48 SLC26A2 NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) Deletion Likely pathogenic 56014 rs386833495 GRCh37: 5:149360547-149360547
GRCh38: 5:149980984-149980984
49 SLC26A2 NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) Deletion Likely pathogenic 56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
50 SLC26A2 NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) SNV Likely pathogenic 371772 rs1057517523 GRCh37: 5:149357400-149357400
GRCh38: 5:149977837-149977837

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

72
# 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

3 CDC
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