ACG1B
MCID: ACH042
MIFTS: 52

Achondrogenesis, Type Ib (ACG1B)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Achondrogenesis, Type Ib

MalaCards integrated aliases for Achondrogenesis, Type Ib:

Name: Achondrogenesis, Type Ib 57 28 53 5 38 71
Achondrogenesis Type Ib 11 73 14
Achondrogenesis Type 1b 24 58 75
Acg1b 57 24 73
Achondrogenesis Fraccaro Type 11 73
Achondrogenesis Ib 57 12
Achondrogenesis, Parenti-Fraccaro Type 58
Achondrogenesis, Fraccaro Type 57
Fraccaro Achondrogenesis 73
Achondrogenesis 1b 73
Acg-Ib 73

Characteristics:


Inheritance:

Achondrogenesis, Type Ib: Autosomal recessive 57
Achondrogenesis Type 1b: Autosomal recessive 58

Age Of Onset:

Achondrogenesis Type 1b: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080055
OMIM® 57 600972
OMIM Phenotypic Series 57 PS200600
MeSH 43 D010009
MESH via Orphanet 44 C536016
ICD10 via Orphanet 32 Q77.0
UMLS via Orphanet 72 C0265274
Orphanet 58 ORPHA93298
MedGen 40 C0265274
UMLS 71 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 08-Dec-2022)

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 Metapathway biotransformation Phase I and II and Extracellular matrix organization. Affiliated tissues include bone, skin and heart, and related phenotypes are macrocephaly and frontal bossing

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

Disease Ontology: 11 An achondrogenesis that has material basis in mutation in the SLC26A2 gene which results in umbilical or inguinal hernia and a prominent rounded abdomen.

Wikipedia: 75 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ii 31.9 SLC26A2 MATN3 COL9A1
2 diastrophic dysplasia 29.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
3 achondrogenesis 29.8 TRIP11 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
4 epiphyseal dysplasia, multiple, 4 29.4 SLC26A2 MIR3922 MATN3 COL9A3 COL9A2 COL9A1
5 osteochondrodysplasia 29.0 TRIP11 SLC26A2 PAPSS2 MATN3 COL9A3 COL9A2
6 multiple epiphyseal dysplasia, recessive 10.3
7 atelosteogenesis, type ii 10.3
8 spondyloperipheral dysplasia 10.1 COL9A2 COL9A1
9 3mc syndrome 2 10.1
10 3mc syndrome 10.1
11 cartilage disease 10.1
12 lethal chondrodysplasia 10.1
13 achondrogenesis, type ia 10.1
14 hydrops fetalis, nonimmune 10.1
15 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.1 COL9A2 COL9A1
16 cortisone reductase deficiency 10.1 PAPSS2 PAPSS1
17 desbuquois dysplasia 10.1 SLC26A2 BPNT2
18 developmental and epileptic encephalopathy 25 10.0 SLC13A4 SLC13A1
19 autosomal recessive stickler syndrome 10.0 COL9A3 COL9A2 COL9A1
20 fibrochondrogenesis 1 10.0 COL9A3 COL9A2 COL9A1
21 vitreous syneresis 10.0 COL9A3 COL9A2 COL9A1
22 retinal perforation 10.0 COL9A3 COL9A2 COL9A1
23 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL9A3 COL9A2 COL9A1
24 spinal stenosis 10.0 COL9A3 COL9A2 COL9A1
25 spondylolisthesis 10.0 COL9A3 COL9A2
26 spondyloepimetaphyseal dysplasia, strudwick type 10.0 COL9A3 COL9A2 COL9A1
27 schneckenbecken dysplasia 10.0 TRIP11 SLC26A2
28 brachyolmia 9.9 SLC26A2 PAPSS2 PAPSS1 MIR3922
29 spondyloepimetaphyseal dysplasia 9.9 PAPSS2 PAPSS1 MATN3
30 intervertebral disc disease 9.9 COL9A3 COL9A2
31 retinal detachment 9.9 COL9A3 COL9A2 COL9A1
32 kniest dysplasia 9.9 SLC26A2 COL9A3 COL9A2 COL9A1
33 ehlers-danlos syndrome, spondylodysplastic type, 1 9.9 MIR3922 MBD3L5
34 ehlers-danlos syndrome, musculocontractural type, 2 9.9 MIR3922 MBD3L5
35 spondyloepiphyseal dysplasia, kimberley type 9.9 MIR3922 MBD3L5
36 ehlers-danlos syndrome, musculocontractural type, 1 9.8 MIR3922 MBD3L5
37 keipert syndrome 9.8 MIR3922 MBD3L5
38 orofacial cleft 9.8 SLC26A2 COL9A2 COL9A1 BPNT2
39 chondrodysplasia with joint dislocations, gpapp type 9.8 SLC13A4 MIR3922 BPNT2
40 bone deterioration disease 9.8 COL9A3 COL9A2
41 fibrochondrogenesis 9.8 TRIP11 COL9A3 COL9A2 COL9A1
42 brachydactyly 9.8 TRIP11 SLC26A2 PAPSS2 BPNT2
43 osteochondrosis 9.8 MATN3 COL9A3 COL9A2 COL9A1
44 marshall syndrome 9.8 MATN3 COL9A3 COL9A2 COL9A1
45 osteochondritis dissecans 9.8 MATN3 COL9A3 COL9A2 COL9A1
46 stickler syndrome 9.8 MATN3 COL9A3 COL9A2 COL9A1
47 treacher collins syndrome 1 9.7 MATN3 COL9A3 COL9A2 COL9A1
48 osteoarthritis 9.7 MATN3 COL9A3 COL9A2 COL9A1
49 epiphyseal dysplasia, multiple, 6 9.7 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
50 hypochondrogenesis 9.7 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1

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 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
3 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000470
4 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003196
5 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
6 short thorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010306
7 hydrops fetalis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001789
8 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012368
9 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
10 thickened nuchal skin fold 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000474
11 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
12 aplasia/hypoplasia of the lungs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006703
13 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000774
14 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
15 short foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001773
16 abnormal enchondral ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003336
17 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
18 disproportionate short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003498
19 lethal skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005716
20 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001537
21 talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001762
22 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
23 femoral hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100541
24 abnormal rib morphology 30 Frequent (33%) HP:0000772
25 cystic hygroma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000476
26 abnormality of cardiovascular system morphology 30 Occasional (7.5%) HP:0030680
27 respiratory insufficiency 30 HP:0002093
28 inguinal hernia 30 HP:0000023
29 malformation of the heart and great vessels 58 Occasional (29-5%)
30 abnormality of the ribs 58 Frequent (79-30%)
31 malar flattening 30 HP:0000272
32 neonatal short-limb short stature 30 HP:0008921
33 edema 30 HP:0000969
34 abdominal distention 30 HP:0003270
35 short ribs 30 HP:0000773
36 hypoplastic ilia 30 HP:0000946
37 absent or minimally ossified vertebral bodies 30 HP:0004599
38 breech presentation 30 HP:0001623

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Achondrogenesis, Type Ib:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.81 BPNT2 COL9A1 COL9A2 MATN3 MYO10 PAPSS2
2 craniofacial MP:0005382 9.43 BPNT2 MYO10 PAPSS2 SLC13A4 SLC26A2 TRIP11
3 skeleton MP:0005390 9.32 BPNT2 COL9A1 COL9A2 MATN3 MYO10 PAPSS2

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 28 SLC26A2

Anatomical Context for Achondrogenesis, Type Ib

Organs/tissues related to Achondrogenesis, Type Ib:

MalaCards : Bone, Skin, Heart

Publications for Achondrogenesis, Type Ib

Articles related to Achondrogenesis, Type Ib:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 62 24 57 5
8528239 1996
2
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 53 62 24 5
11241838 2001
3
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 62 24 5
21155763 2011
4
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 62 24 5
21077202 2010
5
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 62 24 5
16642506 2006
6
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 62 24 5
15294877 2004
7
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 62 24 5
11448940 2001
8
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 62 24 5
9637425 1998
9
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
10
Achondrogenesis type 1B. 62 24 57
8950678 1996
11
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. 62 24 57
7977372 1994
12
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 5
8571951 1996
13
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 24 5
7923357 1994
14
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
15
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 53 62 24
18708426 2008
16
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 62 5
15316973 2004
17
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 62 5
12966518 2003
18
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. 53 62 24
11570921 2001
19
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
20
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 62 5
10465113 1999
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. 53 62 24
9822202 1998
22
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 62 5
8931695 1996
23
Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing. 5
31218223 2019
24
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 5
27065010 2016
25
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. 5
26375458 2015
26
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
27
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. 5
22052783 2011
28
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 5
21077204 2010
29
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 5
20592910 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. 5
20525296 2010
31
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 5
20219950 2010
32
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 5
18925670 2008
33
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 62 24
15703192 2005
34
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 5
12525546 2003
35
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 5
11565064 2001
36
Sulphate transporter gene mutations in apparently isolated club foot. 5
11303514 2001
37
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 5
10482955 1999
38
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. 62 24
9575183 1998
39
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. 62 24
8702490 1996
40
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. 62 24
8723100 1996
41
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. 57
3275766 1988
42
Defect in 3'-phosphoadenosine 5'-phosphosulfate synthesis in brachymorphic mice. I. Characterization of the defect. 57
6284029 1982
43
Defect in 3'-phosphoadenosine 5'-phosphosulfate formation in brachymorphic mice. 57
230515 1979
44
Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice. 57
1269836 1976
45
Fatal neonatal dwarfism. 57
5063132 1972
46
Pseudo-achondrogenesis with fractures. 57
4568361 1972
47
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. 57
4885523 1969
48
[Diagnosis of chondrodystrophic dwarfism in the newborn]. 57
4970273 1968
49
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
50
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020

Variations for Achondrogenesis, Type Ib

ClinVar genetic disease variations for Achondrogenesis, Type Ib:

5 (show top 50) (show all 444)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.4(SLC26A2):c.699+2T>C SNV Pathogenic
371684 rs1057517461 GRCh37: 5:149357916-149357916
GRCh38: 5:149978353-149978353
2 SLC26A2 NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter) SNV Pathogenic
655153 rs1429562386 GRCh37: 5:149357912-149357912
GRCh38: 5:149978349-149978349
3 SLC26A2 NM_000112.4(SLC26A2):c.299del (p.Pro100fs) DEL Pathogenic
816912 rs1581230727 GRCh37: 5:149357512-149357512
GRCh38: 5:149977949-149977949
4 SLC26A2 NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) INDEL Pathogenic
967713 rs1755093032 GRCh37: 5:149360781-149360806
GRCh38: 5:149981218-149981243
5 SLC26A2 NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) DEL Pathogenic
189077 rs786204675 GRCh37: 5:149357664-149357664
GRCh38: 5:149978101-149978101
6 SLC26A2 NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) DUP Pathogenic
Likely Pathogenic
371758 rs1057517511 GRCh37: 5:149360692-149360693
GRCh38: 5:149981129-149981130
7 SLC26A2 NM_000112.4(SLC26A2):c.391del (p.Leu131fs) DEL Pathogenic
Likely Pathogenic
4088 rs786200881 GRCh37: 5:149357604-149357604
GRCh38: 5:149978041-149978041
8 SLC26A2 NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) SNV Pathogenic
56026 rs386833507 GRCh37: 5:149357270-149357270
GRCh38: 5:149977707-149977707
9 SLC26A2 NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) SNV Pathogenic
550571 rs1554095364 GRCh37: 5:149360920-149360920
GRCh38: 5:149981357-149981357
10 SLC26A2 NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) DEL Pathogenic
558379 rs1481910744 GRCh37: 5:149361082-149361082
GRCh38: 5:149981519-149981519
11 SLC26A2 NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) DEL Pathogenic
Likely Pathogenic
371773 rs1057517524 GRCh37: 5:149359889-149359892
GRCh38: 5:149980326-149980329
12 SLC26A2 NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) MICROSAT Pathogenic
553407 rs1554095154 GRCh37: 5:149357788-149357791
GRCh38: 5:149978225-149978228
13 SLC26A2 NM_000112.4(SLC26A2):c.1994dup (p.His665fs) DUP Pathogenic
1285445 GRCh37: 5:149361149-149361150
GRCh38: 5:149981586-149981587
14 SLC26A2 NM_000112.4(SLC26A2):c.1810_1811del (p.Val604fs) DEL Pathogenic
1388388 GRCh37: 5:149360965-149360966
GRCh38: 5:149981402-149981403
15 SLC26A2 NM_000112.4(SLC26A2):c.1393_1394del (p.Leu465fs) DEL Pathogenic
1402115 GRCh37: 5:149360547-149360548
GRCh38: 5:149980984-149980985
16 SLC26A2 NM_000112.4(SLC26A2):c.78_88dup (p.Glu30fs) DUP Pathogenic
1454165 GRCh37: 5:149357282-149357283
GRCh38: 5:149977719-149977720
17 SLC26A2 NM_000112.4(SLC26A2):c.1272dup (p.Asn425Ter) DUP Pathogenic
1456395 GRCh37: 5:149360427-149360428
GRCh38: 5:149980864-149980865
18 SLC26A2 NM_000112.4(SLC26A2):c.1155del (p.Asp385fs) DEL Pathogenic
1436633 GRCh37: 5:149360311-149360311
GRCh38: 5:149980748-149980748
19 SLC26A2 NM_000112.4(SLC26A2):c.1306del (p.Thr436fs) DEL Pathogenic
1456546 GRCh37: 5:149360462-149360462
GRCh38: 5:149980899-149980899
20 SLC26A2 NM_000112.4(SLC26A2):c.1147_1150del (p.Val382_Ala383insTer) DEL Pathogenic
1452842 GRCh37: 5:149360301-149360304
GRCh38: 5:149980738-149980741
21 SLC26A2 NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs) DUP Pathogenic
1453498 GRCh37: 5:149357270-149357271
GRCh38: 5:149977707-149977708
22 SLC26A2 NM_000112.4(SLC26A2):c.218del (p.Lys73fs) DEL Pathogenic
1453606 GRCh37: 5:149357429-149357429
GRCh38: 5:149977866-149977866
23 SLC26A2 NM_000112.4(SLC26A2):c.100del (p.Glu34fs) DEL Pathogenic
1453452 GRCh37: 5:149357313-149357313
GRCh38: 5:149977750-149977750
24 SLC26A2 NM_000112.4(SLC26A2):c.438del (p.Phe146fs) DEL Pathogenic
557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
25 SLC26A2 NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) DUP Pathogenic
964035 rs1755018682 GRCh37: 5:149357352-149357353
GRCh38: 5:149977789-149977790
26 SLC26A2 NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) DUP Pathogenic
656557 rs769859976 GRCh37: 5:149357646-149357647
GRCh38: 5:149978083-149978084
27 SLC26A2 NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) MICROSAT Pathogenic
Likely Pathogenic
371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
28 SLC26A2 NM_000112.4(SLC26A2):c.819del (p.Leu275fs) DEL Pathogenic
935588 rs750882937 GRCh37: 5:149359974-149359974
GRCh38: 5:149980411-149980411
29 SLC26A2 NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) DEL Pathogenic
971526 rs1459144096 GRCh37: 5:149357226-149357230
GRCh38: 5:149977663-149977667
30 SLC26A2 NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) DUP Pathogenic
Likely Pathogenic
371749 rs1057517504 GRCh37: 5:149357449-149357450
GRCh38: 5:149977886-149977887
31 SLC26A2 NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs) DUP Pathogenic
1070678 GRCh37: 5:149360591-149360592
GRCh38: 5:149981028-149981029
32 SLC26A2 NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) SNV Pathogenic
56012 rs386833493 GRCh37: 5:149360313-149360313
GRCh38: 5:149980750-149980750
33 SLC26A2 NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) SNV Pathogenic
928888 rs1755094376 GRCh37: 5:149360811-149360811
GRCh38: 5:149981248-149981248
34 SLC26A2 NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) DEL Pathogenic
Likely Pathogenic
56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
35 SLC26A2 NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic
4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
36 SLC26A2 NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs) MICROSAT Pathogenic
436750 rs1554095433 GRCh37: 5:149361276-149361277
GRCh38: 5:149981713-149981714
37 SLC26A2 NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) SNV Pathogenic
835924 rs771098555 GRCh37: 5:149360499-149360499
GRCh38: 5:149980936-149980936
38 SLC26A2 NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) DEL Pathogenic
856738 rs1755089179 GRCh37: 5:149360586-149360586
GRCh38: 5:149981023-149981023
39 SLC26A2 NM_000112.4(SLC26A2):c.1714del (p.Leu572fs) DEL Pathogenic
1070109 GRCh37: 5:149360869-149360869
GRCh38: 5:149981306-149981306
40 SLC26A2 NM_000112.4(SLC26A2):c.1441del (p.Ser481fs) DEL Pathogenic
557077 rs745774620 GRCh37: 5:149360592-149360592
GRCh38: 5:149981029-149981029
41 SLC26A2 NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter) SNV Pathogenic
1071456 GRCh37: 5:149360402-149360402
GRCh38: 5:149980839-149980839
42 SLC26A2 NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) SNV Pathogenic
Pathogenic
550616 rs1554095397 GRCh37: 5:149361143-149361143
GRCh38: 5:149981580-149981580
43 SLC26A2 NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) DEL Pathogenic
Likely Pathogenic
371722 rs762137330 GRCh37: 5:149361138-149361138
GRCh38: 5:149981575-149981575
44 SLC26A2 NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) SNV Pathogenic
942484 rs905644652 GRCh37: 5:149360933-149360933
GRCh38: 5:149981370-149981370
45 SLC26A2 NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter) SNV Pathogenic
Likely Pathogenic
371786 rs1057517532 GRCh37: 5:149360216-149360216
GRCh38: 5:149980653-149980653
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
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.1955_1958del (p.Asp652fs) DEL Pathogenic
Likely Pathogenic
371708 rs1057517474 GRCh37: 5:149361109-149361112
GRCh38: 5:149981546-149981549

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

73
# 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



Pathways directly related to Achondrogenesis, Type Ib:

# Pathway Source
1 Defective SLC26A2 causes chondrodysplasias Reactome 66

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 SLC26A2 PAPSS2 PAPSS1 BPNT2
2
Show member pathways
12.31 MATN3 COL9A3 COL9A2 COL9A1
3
Show member pathways
11.68 MATN3 COL9A3 COL9A2 COL9A1
4
Show member pathways
11.52 COL9A3 COL9A2 COL9A1
5
Show member pathways
11.37 COL9A3 COL9A2 COL9A1
6 10.9 COL9A3 COL9A1
7
Show member pathways
10.61 SLC26A2 PAPSS2 PAPSS1 BPNT2
8 10.39 SLC26A2 PAPSS2 BPNT2

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 endoplasmic reticulum lumen GO:0005788 9.86 MATN3 COL9A3 COL9A2 COL9A1
2 extracellular matrix GO:0031012 9.76 MATN3 COL9A3 COL9A2 COL9A1
3 collagen trimer GO:0005581 9.13 COL9A3 COL9A2 COL9A1
4 collagen type IX trimer GO:0005594 9.1 COL9A3 COL9A2 COL9A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 10.06 MATN3 COL9A3 COL9A2 COL9A1
2 skeletal system development GO:0001501 10.03 PAPSS1 MATN3 COL9A2 BPNT2
3 monoatomic anion transmembrane transport GO:0098656 9.8 SLC13A4 SLC13A1
4 sulfate assimilation GO:0000103 9.67 PAPSS1 PAPSS2
5 sulfate transmembrane transport GO:1902358 9.63 SLC26A2 SLC13A4 SLC13A1
6 sulfur compound metabolic process GO:0006790 9.48 PAPSS2 PAPSS1
7 purine ribonucleotide biosynthetic process GO:0009152 9.4 PAPSS2 PAPSS1
8 sulfate transport GO:0008272 9.35 SLC26A2 SLC13A4 SLC13A1
9 purine nucleoside bisphosphate biosynthetic process GO:0034033 9.32 PAPSS2 PAPSS1
10 ribonucleoside bisphosphate biosynthetic process GO:0034030 9.26 PAPSS2 PAPSS1
11 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.1 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 GO:0005201 9.86 MATN3 COL9A3 COL9A2 COL9A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.8 COL9A3 COL9A2 COL9A1
3 secondary active sulfate transmembrane transporter activity GO:0008271 9.54 SLC26A2 SLC13A1
4 sodium:sulfate symporter activity GO:0015382 9.46 SLC13A4 SLC13A1
5 sulfate adenylyltransferase (ATP) activity GO:0004781 9.26 PAPSS2 PAPSS1
6 adenylylsulfate kinase activity GO:0004020 8.92 PAPSS2 PAPSS1

Sources for Achondrogenesis, Type Ib

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 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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