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ACG1B
MCID: ACH042
MIFTS: 47

Achondrogenesis, Type Ib (ACG1B)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Achondrogenesis, Type Ib

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MalaCards integrated aliases for Achondrogenesis, Type Ib:

Name: Achondrogenesis, Type Ib 58 30 56 6 41 74
Achondrogenesis Type Ib 12 76 38 15
Achondrogenesis Type 1b 77 25 54 60
Acg1b 58 25 54 76
Achondrogenesis Fraccaro Type 12 54 76
Fraccaro Achondrogenesis 54 76
Achondrogenesis Ib 58 13
Achondrogenesis, Parenti-Fraccaro Type 60
Achondrogenesis, Fraccaro Type 58
Achondrogenesis 1b 76
Acg-Ib 76

Characteristics:

Orphanet epidemiological data:

60
achondrogenesis type 1b
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
achondrogenesis, type ib:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


GeneReviews:

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Achondrogenesis, Type Ib

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OMIM : 58 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)

MalaCards based summary : Achondrogenesis, Type Ib, also known as achondrogenesis type ib, is related to achondrogenesis and skeletal dysplasias. An important gene associated with Achondrogenesis, Type Ib is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Endochondral Ossification and ECM proteoglycans. Affiliated tissues include bone, lung and skin, and related phenotypes are macrocephaly and short neck

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.

UniProtKB/Swiss-Prot : 76 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 : 77 Achondrogenesis, type 1B is a severe autosomal recessive skeletal disorder, invariably fatal in the... more...

GeneReviews: NBK1516
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Related Diseases for Achondrogenesis, Type Ib

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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 25)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis 31.0 COL2A1 SLC26A2
2 skeletal dysplasias 30.0 COL2A1 FGFR3
3 diastrophic dysplasia 29.5 COL2A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 achondrogenesis, type ii 11.3
5 congenital chloride diarrhea 10.3 SLC26A2 SLC26A3
6 dyshormonogenic goiter 10.2 SLC26A2 SLC26A4
7 renal artery atheroma 10.2 BGN DCN
8 deafness, autosomal dominant 20 10.2 SLC26A2 SLC26A3
9 achondrogenesis, type ia 10.1 COL2A1 SLC26A2
10 deafness, autosomal recessive 6 10.1 SLC26A3 SLC26A5
11 corneal dystrophy, congenital stromal 10.1 BGN DCN
12 paralytic ileus 10.1 CCK SLC26A3
13 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 SLC26A2 SLC26A4
14 atelosteogenesis 9.9 FGFR3 SLC26A2
15 pendred syndrome 9.8 SLC26A2 SLC26A3 SLC26A4 SLC26A5
16 sensorineural hearing loss 9.8 COL2A1 SLC26A4 SLC26A5
17 multiple epiphyseal dysplasia 9.8 COL2A1 SLC26A2
18 synovial chondromatosis 9.8 COL2A1 FGFR3
19 deafness, autosomal dominant 6 9.8 FGFR3 SLC26A4
20 metaphyseal chondrodysplasia, jansen type 9.8 COL2A1 FGFR3
21 crouzon syndrome 9.7 DCN FGFR3
22 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7 COL2A1 FGFR3 SLC26A2
23 spondyloepiphyseal dysplasia congenita 9.7 COL2A1 FGFR3 SLC26A2
24 bone development disease 9.7 COL2A1 FGFR3 SLC26A2
25 brittle bone disorder 9.6 COL2A1 DCN FGFR3

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



Diseases related to Achondrogenesis, Type Ib
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Symptoms & Phenotypes for Achondrogenesis, Type Ib

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Human phenotypes related to Achondrogenesis, Type Ib:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
4 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
5 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
6 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
7 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
8 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
9 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
10 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
11 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
12 hydrops fetalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001789
13 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
14 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
15 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
16 aplasia/hypoplasia of the lungs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006703
17 disproportionate short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003498
18 abnormal enchondral ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0003336
19 lethal skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005716
20 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
21 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
22 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
23 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
24 femoral hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100541
25 cystic hygroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000476
26 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
27 malar flattening 33 HP:0000272
28 respiratory insufficiency 33 HP:0002093
29 inguinal hernia 33 HP:0000023
30 edema 33 HP:0000969
31 malformation of the heart and great vessels 60 Occasional (29-5%)
32 neonatal short-limb short stature 33 HP:0008921
33 abdominal distention 33 HP:0003270
34 breech presentation 33 HP:0001623
35 hypoplastic ilia 33 HP:0000946
36 short ribs 33 HP:0000773
37 absent or minimally ossified vertebral bodies 33 HP:0004599

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
respiratory insufficiency

Chest External Features:
narrow chest

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Head And Neck Head:
flat face

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

MGI Mouse Phenotypes related to Achondrogenesis, Type Ib:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.98 ATF6 BGN COL2A1 DCN FGFR3 SLC26A2
2 growth/size/body region MP:0005378 9.92 ATF6 BGN COL2A1 DCN FGFR3 SLC26A2
3 craniofacial MP:0005382 9.8 BGN COL2A1 DCN FGFR3 SLC26A2
4 digestive/alimentary MP:0005381 9.77 COL2A1 DCN FGFR3 SLC26A3 SLC26A4
5 homeostasis/metabolism MP:0005376 9.76 ATF6 BGN CCK COL2A1 DCN FGFR3
6 hearing/vestibular/ear MP:0005377 9.56 COL2A1 FGFR3 SLC26A4 SLC26A5
7 renal/urinary system MP:0005367 9.35 CCK COL2A1 DCN FGFR3 SLC26A4
8 skeleton MP:0005390 9.1 BGN COL2A1 DCN FGFR3 SLC26A2 SLC26A4
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Drugs & Therapeutics for Achondrogenesis, Type Ib

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

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Genetic Tests for Achondrogenesis, Type Ib

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Genetic tests related to Achondrogenesis, Type Ib:

# Genetic test Affiliating Genes
1 Achondrogenesis, Type Ib 30 SLC26A2
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Anatomical Context for Achondrogenesis, Type Ib

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MalaCards organs/tissues related to Achondrogenesis, Type Ib:

42
Bone, Lung, Skin, Heart
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Publications for Achondrogenesis, Type Ib

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Articles related to Achondrogenesis, Type Ib:

# Title Authors Year
1
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. ( 11570921 )
2001
2
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
3
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. ( 8160740 )
1994
4
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. ( 7977372 )
1994
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Variations for Achondrogenesis, Type Ib

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

76
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Asn425Asp VAR_007437 rs104893920
2 SLC26A2 p.Gly678Val VAR_007438 rs104893916

ClinVar genetic disease variations for Achondrogenesis, Type Ib:

6 (show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh37 Chromosome 5, 149360880: 149360880
3 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
4 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh38 Chromosome 5, 149978043: 149978043
5 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
6 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
7 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
8 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
9 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh37 Chromosome 5, 149360429: 149360429
10 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh38 Chromosome 5, 149980866: 149980866
11 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
12 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh38 Chromosome 5, 149981626: 149981626
13 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
14 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh38 Chromosome 5, 149981550: 149981550
15 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
16 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh38 Chromosome 5, 149980987: 149980987
17 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh37 Chromosome 5, 149360806: 149360806
18 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh38 Chromosome 5, 149981243: 149981243
19 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
20 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh38 Chromosome 5, 149981569: 149981569
21 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
22 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh38 Chromosome 5, 149980613: 149980615
23 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
24 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
25 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
26 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
27 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh37 Chromosome 5, 149357444: 149357444
28 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh38 Chromosome 5, 149977881: 149977881
29 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh37 Chromosome 5, 149360237: 149360237
30 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh38 Chromosome 5, 149980674: 149980674
31 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh38 Chromosome 5, 149981337: 149981337
32 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh37 Chromosome 5, 149360900: 149360900
33 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
34 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh38 Chromosome 5, 149977837: 149977837
35 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh38 Chromosome 5, 149977840: 149977840
36 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh37 Chromosome 5, 149357403: 149357403
37 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh38 Chromosome 5, 149977859: 149977859
38 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh37 Chromosome 5, 149357422: 149357422
39 SLC26A2 NM_000112.3(SLC26A2): c.239_243dup (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
40 SLC26A2 NM_000112.3(SLC26A2): c.239_243dup (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh37 Chromosome 5, 149357454: 149357458
41 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs763198695 GRCh37 Chromosome 5, 149357700: 149357701
42 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs763198695 GRCh38 Chromosome 5, 149978137: 149978138
43 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh38 Chromosome 5, 149978193: 149978193
44 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh37 Chromosome 5, 149357756: 149357756
45 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh38 Chromosome 5, 149978353: 149978353
46 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh37 Chromosome 5, 149357916: 149357916
47 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh37 Chromosome 5, 149359892: 149359895
48 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh38 Chromosome 5, 149980329: 149980332
49 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh38 Chromosome 5, 149980339: 149980339
50 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh37 Chromosome 5, 149359902: 149359902
Sources

Expression for Achondrogenesis, Type Ib

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

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

# Super pathways Score Top Affiliating Genes
1
Endochondral Ossification 1
10.97 COL2A1 FGFR3
2
ECM proteoglycans 67
10.71 BGN DCN
3
Articular Cartilage Extracellular Matrix Pathway 66
10.36 BGN COL2A1 DCN
Sources

GO Terms for Achondrogenesis, Type Ib

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.43 SLC26A2 SLC26A3 SLC26A4
2 brush border membrane GO:0031526 9.16 SLC26A3 SLC26A4
3 extracellular matrix GO:0031012 9.13 BGN COL2A1 DCN
4 collagen-containing extracellular matrix GO:0062023 8.8 BGN COL2A1 DCN

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 extracellular matrix organization GO:0030198 9.73 BGN COL2A1 DCN
3 sensory perception of sound GO:0007605 9.69 COL2A1 SLC26A4 SLC26A5
4 chloride transmembrane transport GO:1902476 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
5 anion transmembrane transport GO:0098656 9.58 SLC26A3 SLC26A4 SLC26A5
6 chondrocyte differentiation GO:0002062 9.57 COL2A1 FGFR3
7 bicarbonate transport GO:0015701 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
8 endochondral ossification GO:0001958 9.54 COL2A1 FGFR3
9 chondroitin sulfate biosynthetic process GO:0030206 9.52 BGN DCN
10 chondroitin sulfate catabolic process GO:0030207 9.49 BGN DCN
11 dermatan sulfate biosynthetic process GO:0030208 9.48 BGN DCN
12 positive regulation of mitochondrial depolarization GO:0051901 9.46 CCK DCN
13 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
14 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.43 BGN DCN
15 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
16 regulation of membrane potential GO:0042391 9.07 SLC26A5
17 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

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

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 sulfate transmembrane transporter activity GO:0015116 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 extracellular matrix binding GO:0050840 9.46 BGN DCN
5 chloride transmembrane transporter activity GO:0015108 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 glycosaminoglycan binding GO:0005539 9.43 BGN DCN
7 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.4 BGN DCN
8 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5
Sources

Sources for Achondrogenesis, Type Ib

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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