ACG1B
MCID: ACH042
MIFTS: 50

Achondrogenesis, Type Ib (ACG1B)

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

Aliases & Classifications for Achondrogenesis, Type Ib

MalaCards integrated aliases for Achondrogenesis, Type Ib:

Name: Achondrogenesis, Type Ib 57 29 54 6 39 70
Achondrogenesis Type Ib 12 72 36 15
Achondrogenesis Type 1b 73 25 20 58
Acg1b 57 25 20 72
Achondrogenesis Fraccaro Type 12 20 72
Fraccaro Achondrogenesis 20 72
Achondrogenesis Ib 57 13
Achondrogenesis, Parenti-Fraccaro Type 58
Achondrogenesis, Fraccaro Type 57
Achondrogenesis 1b 72
Acg-Ib 72

Characteristics:

Orphanet epidemiological data:

58
achondrogenesis type 1b
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM®:

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


HPO:

31
achondrogenesis, type ib:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance For pathogenic variants in slc26a2, penetrance is complete.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080055
OMIM® 57 600972
OMIM Phenotypic Series 57 PS200600
KEGG 36 H02065
MeSH 44 D010009
MESH via Orphanet 45 C536016
ICD10 via Orphanet 33 Q77.0
UMLS via Orphanet 71 C0265274
Orphanet 58 ORPHA93298
MedGen 41 C0265274
UMLS 70 C0265274

Summaries for Achondrogenesis, Type Ib

OMIM® : 57 The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. (600972) (Updated 20-May-2021)

MalaCards based summary : Achondrogenesis, Type Ib, also known as achondrogenesis type ib, is related to achondrogenesis, type ii and diastrophic dysplasia. An important gene associated with Achondrogenesis, Type Ib is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Degradation of the extracellular matrix. Affiliated tissues include bone and heart, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : 12 An achondrogenesis that has material basis in mutation in the SLC26A2 gene which results in umbilical or inguinal hernia and a prominent rounded abdomen.

KEGG : 36 Achondrogenesis type IB (ACG-IB) is an autosomal recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier family 26 sulphate transporter, member 2 gene (SLC26A2).

UniProtKB/Swiss-Prot : 72 Achondrogenesis 1B: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease.

Wikipedia : 73 Achondrogenesis, type 1B is a severe autosomal recessive skeletal disorder, invariably fatal in the... more...

GeneReviews: NBK1516

Related Diseases for Achondrogenesis, Type Ib

Diseases in the Achondrogenesis family:

Achondrogenesis, Type Ia Achondrogenesis, Type Ii
Achondrogenesis, Type Ib

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ii 31.7 SLC26A2 MATN3 COL9A1
2 diastrophic dysplasia 29.5 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
3 achondrogenesis 29.5 SLC26A2 SLC13A1 MATN3 COL9A3 COL9A2 COL9A1
4 epiphyseal dysplasia, multiple, 4 29.2 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
5 osteochondrodysplasia 28.7 SLC26A2 PAPSS2 MATN3 COL9A3 COL9A2 COL9A1
6 multiple epiphyseal dysplasia, recessive 10.3
7 atelosteogenesis, type ii 10.2
8 brachyolmia 10.1 SLC26A2 PAPSS2
9 3mc syndrome 2 10.1
10 3mc syndrome 10.1
11 lethal chondrodysplasia 10.1
12 achondrogenesis, type ia 10.1
13 legg-calve-perthes disease 10.0 SLC26A2 MATN3
14 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL9A2 COL9A1
15 frontometaphyseal dysplasia 10.0 PAPSS2 PAPSS1
16 back pain 10.0 COL9A3 COL9A2
17 larsen syndrome 9.9 SLC26A2 CHST11
18 bone deterioration disease 9.9 COL9A3 COL9A2
19 dental anomalies and short stature 9.9 SLC13A4 SLC13A1
20 intervertebral disc disease 9.8 COL9A3 COL9A2
21 fibrochondrogenesis 9.8 COL9A3 COL9A2 COL9A1
22 spondyloepimetaphyseal dysplasia 9.8 PAPSS2 PAPSS1 MATN3
23 autosomal recessive stickler syndrome 9.8 COL9A3 COL9A2 COL9A1
24 vitreous syneresis 9.8 COL9A3 COL9A2 COL9A1
25 kniest dysplasia 9.8 COL9A3 COL9A2 COL9A1
26 marshall syndrome 9.8 COL9A3 COL9A2 COL9A1
27 spinal stenosis 9.8 COL9A3 COL9A2 COL9A1
28 bone structure disease 9.8 COL9A3 COL9A2
29 retinal detachment 9.8 COL9A3 COL9A2 COL9A1
30 campomelic dysplasia 9.7 COL9A2 COL9A1
31 hypochondrogenesis 9.6 SLC26A2 MATN3 COL9A2 COL9A1
32 multiple epiphyseal dysplasia, autosomal dominant 9.6 MATN3 COL9A3 COL9A2 COL9A1
33 fibrochondrogenesis 1 9.6 MATN3 COL9A3 COL9A2 COL9A1
34 spondyloepiphyseal dysplasia congenita 9.5 MATN3 COL9A3 COL9A2 COL9A1
35 osteochondrosis 9.5 MATN3 COL9A3 COL9A2 COL9A1
36 osteochondritis dissecans 9.5 MATN3 COL9A3 COL9A2 COL9A1
37 stickler syndrome 9.5 MATN3 COL9A3 COL9A2 COL9A1
38 epiphyseal dysplasia, multiple, 6 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
39 epiphyseal dysplasia, multiple, 5 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
40 epiphyseal dysplasia, multiple, 3 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
41 epiphyseal dysplasia, multiple, 2 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
42 epiphyseal dysplasia, multiple, 1 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
43 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
44 multiple epiphyseal dysplasia 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
45 pseudoachondroplasia 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
46 bone development disease 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
47 atelosteogenesis 9.3 SLC26A2 SLC13A1 PAPSS2 COL9A3 COL9A2 COL9A1
48 spondyloepiphyseal dysplasia with congenital joint dislocations 9.2 SLC26A2 PAPSS2 COL9A3 COL9A2 COL9A1 CHST11

Graphical network of the top 20 diseases related to Achondrogenesis, Type Ib:



Diseases related to Achondrogenesis, Type Ib

Symptoms & Phenotypes for Achondrogenesis, Type Ib

Human phenotypes related to Achondrogenesis, Type Ib:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
7 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
8 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
9 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
10 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
11 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
13 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
14 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
15 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
16 disproportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003498
17 abnormal enchondral ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0003336
18 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
19 lethal skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005716
20 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
21 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
22 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
23 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
24 femoral hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100541
25 cystic hygroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000476
26 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
27 respiratory insufficiency 31 HP:0002093
28 inguinal hernia 31 HP:0000023
29 malformation of the heart and great vessels 58 Occasional (29-5%)
30 malar flattening 31 HP:0000272
31 neonatal short-limb short stature 31 HP:0008921
32 edema 31 HP:0000969
33 abdominal distention 31 HP:0003270
34 short ribs 31 HP:0000773
35 hypoplastic ilia 31 HP:0000946
36 absent or minimally ossified vertebral bodies 31 HP:0004599
37 breech presentation 31 HP:0001623

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
respiratory insufficiency

Head And Neck Head:
flat face

Chest External Features:
narrow chest

Skeletal Pelvis:
small iliac bones
unossified ischium and pubis

Skeletal Limbs:
severe micromelia
marked shortness, broad tubular bone
metaphyseal spurring

Chest Ribs Sternum Clavicles And Scapulae:
thin short ribs
occasional rib fractures

Prenatal Manifestations Delivery:
breech presentation at birth
often stillborn

Abdomen External Features:
umbilical hernia
distended abdomen
inguinal herniae

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Spine:
absent or minimally ossified vertebral bodies

Growth Other:
fetal hydrops

Growth Height:
short-limbed dwarfism identifiable at birth

Skeletal Skull:
slightly less ossified than expected for gestational age

Laboratory Abnormalities:
no cartilage staining with toluidine blue
impaired synthesis of fibroblast sulfated proteoglycans

Clinical features from OMIM®:

600972 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Achondrogenesis, Type Ib:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 CHST11 COL9A1 COL9A2 MATN3 PAPSS2 SLC13A1
2 skeleton MP:0005390 9.23 CHST11 COL9A1 COL9A2 MATN3 PAPSS2 SLC13A1

Drugs & Therapeutics for Achondrogenesis, Type Ib

Search Clinical Trials , NIH Clinical Center for Achondrogenesis, Type Ib

Genetic Tests for Achondrogenesis, Type Ib

Genetic tests related to Achondrogenesis, Type Ib:

# Genetic test Affiliating Genes
1 Achondrogenesis, Type Ib 29 SLC26A2

Anatomical Context for Achondrogenesis, Type Ib

MalaCards organs/tissues related to Achondrogenesis, Type Ib:

40
Bone, Heart

Publications for Achondrogenesis, Type Ib

Articles related to Achondrogenesis, Type Ib:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 25 6 57 61
8528239 1996
2
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 25 6 61 54
11241838 2001
3
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 54 6 61 25
8571951 1996
4
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 25 6 61
21077202 2010
5
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 6 25 61
8931695 1996
6
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. 61 25 57
7977372 1994
7
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 25 6
16642506 2006
8
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 6 25
15294877 2004
9
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 25 6
11448940 2001
10
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 25 6
10482955 1999
11
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 25 6
10465113 1999
12
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 6 25
9637425 1998
13
Achondrogenesis type 1B. 25 57
8950678 1996
14
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 25 6
7923357 1994
15
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. 57 25
3275766 1988
16
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 61 6
21155763 2011
17
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 61 54 25
18708426 2008
18
Pathogenetics of the human SLC26 transporters. 25 54 61
15720248 2005
19
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. 54 61 25
11570921 2001
20
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
21
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 54 61
9822202 1998
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
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
23840040 2013
25
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
26
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. 6
22052783 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
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 6
15316973 2004
33
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 6
12966518 2003
34
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 6
12525546 2003
35
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 6
11565064 2001
36
Sulphate transporter gene mutations in apparently isolated club foot. 6
11303514 2001
37
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 6
9342225 1997
38
Defect in 3'-phosphoadenosine 5'-phosphosulfate synthesis in brachymorphic mice. I. Characterization of the defect. 57
6284029 1982
39
Defect in 3'-phosphoadenosine 5'-phosphosulfate formation in brachymorphic mice. 57
230515 1979
40
Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice. 57
1269836 1976
41
Fatal neonatal dwarfism. 57
5063132 1972
42
Pseudo-achondrogenesis with fractures. 57
4568361 1972
43
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. 57
4885523 1969
44
[Diagnosis of chondrodystrophic dwarfism in the newborn]. 57
4970273 1968
45
Nosology and classification of genetic skeletal disorders: 2010 revision. 25
21438135 2011
46
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 25
20089971 2010
47
Prenatal sonographic diagnosis of skeletal dysplasias. 25
19548204 2009
48
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. 25
17602446 2007
49
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 25
15703192 2005
50
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. 61 54
14692227 2003

Variations for Achondrogenesis, Type Ib

ClinVar genetic disease variations for Achondrogenesis, Type Ib:

6 (show top 50) (show all 256)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) SNV Pathogenic 4093 rs104893920 GRCh37: 5:149360429-149360429
GRCh38: 5:149980866-149980866
2 SLC26A2 NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) SNV Pathogenic 4094 rs104893916 GRCh37: 5:149361189-149361189
GRCh38: 5:149981626-149981626
3 SLC26A2 NM_000112.3(SLC26A2):c.699+2T>C SNV Pathogenic 371684 rs1057517461 GRCh37: 5:149357916-149357916
GRCh38: 5:149978353-149978353
4 SLC26A2 NM_000112.3(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.819del (p.Leu275fs) Deletion Pathogenic 935588 GRCh37: 5:149359974-149359974
GRCh38: 5:149980411-149980411
6 SLC26A2 NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) SNV Pathogenic 942484 GRCh37: 5:149360933-149360933
GRCh38: 5:149981370-149981370
7 SLC26A2 NM_000112.3(SLC26A2):c.438del (p.Phe146fs) Deletion Pathogenic 557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
8 SLC26A2 NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) SNV Pathogenic 371786 rs1057517532 GRCh37: 5:149360216-149360216
GRCh38: 5:149980653-149980653
9 SLC26A2 NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) Deletion Pathogenic 971526 GRCh37: 5:149357226-149357230
GRCh38: 5:149977663-149977667
10 SLC26A2 NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) Duplication Pathogenic 964035 GRCh37: 5:149357352-149357353
GRCh38: 5:149977789-149977790
11 SLC26A2 NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) Deletion Pathogenic 56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
12 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
13 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
14 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
15 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
16 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
17 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
18 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
19 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
20 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
21 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
22 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
23 SLC26A2 NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) SNV Pathogenic 495551 rs766836061 GRCh37: 5:149360863-149360863
GRCh38: 5:149981300-149981300
24 SLC26A2 NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) Deletion Pathogenic 856738 GRCh37: 5:149360586-149360586
GRCh38: 5:149981023-149981023
25 SLC26A2 NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) SNV Pathogenic 835924 GRCh37: 5:149360499-149360499
GRCh38: 5:149980936-149980936
26 SLC26A2 NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) Duplication Pathogenic 656557 rs769859976 GRCh37: 5:149357646-149357647
GRCh38: 5:149978083-149978084
27 SLC26A2 NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic 4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
28 SLC26A2 NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) Indel Pathogenic 967713 GRCh37: 5:149360781-149360806
GRCh38: 5:149981218-149981243
29 SLC26A2 NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) Deletion Pathogenic 960730 GRCh37: 5:149360575-149360575
GRCh38: 5:149981012-149981012
30 SLC26A2 NM_000112.4(SLC26A2):c.299del (p.Pro100fs) Deletion Pathogenic 816912 rs1581230727 GRCh37: 5:149357512-149357512
GRCh38: 5:149977949-149977949
31 SLC26A2 NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) Deletion Likely pathogenic 951956 GRCh37: 5:149361034-149361034
GRCh38: 5:149981471-149981471
32 SLC26A2 NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) Deletion Likely pathogenic 56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
33 SLC26A2 NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) Deletion Likely pathogenic 56018 rs386833499 GRCh37: 5:149361128-149361128
GRCh38: 5:149981565-149981565
34 SLC26A2 NM_000112.3(SLC26A2):c.1311dup (p.Ala438fs) Duplication Likely pathogenic 371704 rs1057517471 GRCh37: 5:149360466-149360467
GRCh38: 5:149980903-149980904
35 SLC26A2 NM_000112.3(SLC26A2):c.918del (p.Thr307fs) Deletion Likely pathogenic 371776 rs1057517526 GRCh37: 5:149360074-149360074
GRCh38: 5:149980511-149980511
36 SLC26A2 NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) SNV Likely pathogenic 371772 rs1057517523 GRCh37: 5:149357400-149357400
GRCh38: 5:149977837-149977837
37 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Likely pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
38 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Likely pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
39 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Likely pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
40 SLC26A2 NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) Deletion Likely pathogenic 962984 GRCh37: 5:149361106-149361106
GRCh38: 5:149981543-149981543
41 SLC26A2 NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter) SNV Likely pathogenic 976051 GRCh37: 5:149357450-149357450
GRCh38: 5:149977887-149977887
42 SLC26A2 NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs) Microsatellite Likely pathogenic 841272 GRCh37: 5:149361170-149361171
GRCh38: 5:149981607-149981608
43 SLC26A2 NM_000112.3(SLC26A2):c.736_739del (p.Val246fs) Deletion Likely pathogenic 371773 rs1057517524 GRCh37: 5:149359889-149359892
GRCh38: 5:149980326-149980329
44 SLC26A2 NM_000112.3(SLC26A2):c.188del (p.Asp63fs) Deletion Likely pathogenic 371736 rs1057517496 GRCh37: 5:149357403-149357403
GRCh38: 5:149977840-149977840
45 SLC26A2 NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) Deletion Likely pathogenic 371708 rs1057517474 GRCh37: 5:149361109-149361112
GRCh38: 5:149981546-149981549
46 SLC26A2 NM_000112.3(SLC26A2):c.207del (p.Phe69fs) Deletion Likely pathogenic 371687 rs1057517462 GRCh37: 5:149357420-149357420
GRCh38: 5:149977857-149977857
47 SLC26A2 NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) SNV Likely pathogenic 371719 rs1057517483 GRCh37: 5:149357756-149357756
GRCh38: 5:149978193-149978193
48 SLC26A2 NM_000112.3(SLC26A2):c.239_243dup (p.Pro82fs) Duplication Likely pathogenic 371749 rs1057517504 GRCh37: 5:149357449-149357450
GRCh38: 5:149977886-149977887
49 SLC26A2 NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) SNV Likely pathogenic 371761 rs1057517514 GRCh37: 5:149359902-149359902
GRCh38: 5:149980339-149980339
50 SLC26A2 NM_000112.3(SLC26A2):c.1649del (p.Lys550fs) Deletion Likely pathogenic 371717 rs1057517482 GRCh37: 5:149360803-149360803
GRCh38: 5:149981240-149981240

UniProtKB/Swiss-Prot genetic disease variations for Achondrogenesis, Type Ib:

72
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Asn425Asp VAR_007437 rs104893920
2 SLC26A2 p.Gly678Val VAR_007438 rs104893916

Expression for Achondrogenesis, Type Ib

Search GEO for disease gene expression data for Achondrogenesis, Type Ib.

Pathways for Achondrogenesis, Type Ib

GO Terms for Achondrogenesis, Type Ib

Cellular components related to Achondrogenesis, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.62 MATN3 COL9A3 COL9A2 COL9A1
2 endoplasmic reticulum lumen GO:0005788 9.46 MATN3 COL9A3 COL9A2 COL9A1
3 collagen trimer GO:0005581 9.43 COL9A3 COL9A2 COL9A1
4 extracellular matrix GO:0031012 9.26 MATN3 COL9A3 COL9A2 COL9A1
5 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Achondrogenesis, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.67 MATN3 COL9A3 COL9A2 COL9A1
2 skeletal system development GO:0001501 9.56 PAPSS2 PAPSS1 MATN3 COL9A2
3 anion transmembrane transport GO:0098656 9.4 SLC13A4 SLC13A1
4 sulfate transmembrane transport GO:1902358 9.33 SLC26A2 SLC13A4 SLC13A1
5 sulfate assimilation GO:0000103 9.32 PAPSS2 PAPSS1
6 sulfate transport GO:0008272 9.13 SLC26A2 SLC13A4 SLC13A1
7 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 8.8 SLC26A2 PAPSS2 PAPSS1

Molecular functions related to Achondrogenesis, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.5 COL9A3 COL9A2 COL9A1
2 secondary active sulfate transmembrane transporter activity GO:0008271 9.37 SLC26A2 SLC13A1
3 sodium:sulfate symporter activity GO:0015382 9.26 SLC13A4 SLC13A1
4 sulfate adenylyltransferase (ATP) activity GO:0004781 9.16 PAPSS2 PAPSS1
5 adenylylsulfate kinase activity GO:0004020 8.96 PAPSS2 PAPSS1
6 extracellular matrix structural constituent GO:0005201 8.92 MATN3 COL9A3 COL9A2 COL9A1

Sources for Achondrogenesis, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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35 IUPHAR
36 KEGG
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44 MeSH
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51 NDF-RT
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57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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