Achondrogenesis, Type Ib disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ACH042 MIFTS: 45	Achondrogenesis, Type Ib Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
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Aliases & Classifications for Achondrogenesis, Type Ib

MalaCards integrated aliases for Achondrogenesis, Type Ib:

Name: Achondrogenesis, Type Ib ⁵⁷ ²⁹ ⁵⁵ ⁶ ⁴⁰ ⁷³

Achondrogenesis Type Ib ¹² ⁷⁵ ³⁷ ¹⁵

Achondrogenesis Type 1b ⁷⁶ ²⁴ ⁵³ ⁵⁹

Acg1b ⁵⁷ ²⁴ ⁵³ ⁷⁵

Achondrogenesis Fraccaro Type ¹² ⁵³ ⁷⁵

Fraccaro Achondrogenesis ⁵³ ⁷⁵

Achondrogenesis Ib ⁵⁷ ¹³

Achondrogenesis, Parenti-Fraccaro Type ⁵⁹

Achondrogenesis, Fraccaro Type ⁵⁷

Achondrogenesis 1b ⁷⁵

Acg-Ib ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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

GeneReviews:

²⁴

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Achondrogenesis

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 600972

Disease Ontology ¹² DOID:0080055

Orphanet ⁵⁹ ORPHA93298

MESH via Orphanet ⁴⁵ C536016

UMLS via Orphanet ⁷⁴ C0265274

ICD10 via Orphanet ³⁴ Q77.0

MedGen ⁴² C0265274

MeSH ⁴⁴ D010009

KEGG ³⁷ H02065

SNOMED-CT via HPO ⁶⁹ 258211005 396232000 32958008 more

UMLS ⁷³ C0265274

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Summaries for Achondrogenesis, Type Ib

NIH Rare Diseases : ⁵³ Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.

MalaCards based summary : Achondrogenesis, Type Ib, also known as achondrogenesis type ib, is related to diastrophic dysplasia and achondrogenesis, type ii. An important gene associated with Achondrogenesis, Type Ib is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are ECM proteoglycans and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone, testes and skin, and related phenotypes are macrocephaly and long philtrum

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.

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ 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

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 18)

#	Related Disease	Score	Top Affiliating Genes
1	diastrophic dysplasia	28.6	SLC26A2 SLC26A3 SLC26A4 SLC26A5
2	achondrogenesis, type ii	11.1
3	congenital chloride diarrhea	10.4	SLC26A2 SLC26A3
4	boomerang dysplasia	10.4	FLNB SLC26A2
5	atelosteogenesis	10.3	FLNB SLC26A2
6	achondrogenesis	10.3
7	deafness, autosomal dominant 20	10.2	SLC26A2 SLC26A3
8	skeletal dysplasias	10.2	FLNB SLC26A2
9	dyshormonogenic goiter	10.1	SLC26A2 SLC26A4
10	osteochondrodysplasia	10.1	FLNB SLC26A2
11	deafness, autosomal recessive 6	10.0	SLC26A3 SLC26A5
12	ear malformation	9.9	FLNB SLC26A4
13	renal artery atheroma	9.7	BGN DCN
14	corneal dystrophy, congenital stromal	9.7	BGN DCN
15	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	9.5	SLC26A2 SLC26A4 SLC26A5
16	autosomal recessive non-syndromic sensorineural deafness type dfnb	9.5	SLC26A4 SLC26A5
17	autosomal recessive disease	9.4	SLC26A2 SLC26A4
18	pendred syndrome	9.0	SLC26A2 SLC26A3 SLC26A4 SLC26A5

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

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Symptoms & Phenotypes for Achondrogenesis, Type Ib

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Achondrogenesis, Type Ib:

⁵⁹ ³² (show all 37)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000256
2	long philtrum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000343
3	micrognathia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000347
4	anteverted nares ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000463
5	short neck ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000470
6	thickened nuchal skin fold ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000474
7	cystic hygroma ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000476
8	abnormality of the ribs ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000772
9	narrow chest ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000774
10	umbilical hernia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001537
11	polyhydramnios ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001561
12	talipes equinovarus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001762
13	short foot ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001773
14	hydrops fetalis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001789
15	frontal bossing ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002007
16	micromelia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002983
17	short nose ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003196
18	abnormal enchondral ossification ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003336
19	disproportionate short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003498
20	severe short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003510
21	lethal skeletal dysplasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005716
22	aplasia/hypoplasia of the lungs ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006703
23	short thorax ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010306
24	flat face ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0012368
25	femoral hernia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100541
26	malformation of the heart and great vessels ⁵⁹		Occasional (29-5%)
27	inguinal hernia ³²			HP:0000023
28	malar flattening ³²			HP:0000272
29	short ribs ³²			HP:0000773
30	hypoplastic ilia ³²			HP:0000946
31	edema ³²			HP:0000969
32	breech presentation ³²			HP:0001623
33	respiratory insufficiency ³²			HP:0002093
34	abdominal distention ³²			HP:0003270
35	absent or minimally ossified vertebral bodies ³²			HP:0004599
36	neonatal short-limb short stature ³²			HP:0008921
37	abnormality of cardiovascular system morphology ³²	occasional (7.5%)		HP:0030680

MGI Mouse Phenotypes related to Achondrogenesis, Type Ib:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.46	SLC26A2 BGN DCN FLNB
2	growth/size/body region	MP:0005378	9.43	BGN DCN FLNB SLC26A2 SLC26A3 SLC26A5
3	skeleton	MP:0005390	9.02	BGN DCN FLNB SLC26A2 SLC26A4

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Drugs & Therapeutics for Achondrogenesis, Type Ib

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

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Genetic Tests for Achondrogenesis, Type Ib

Genetic tests related to Achondrogenesis, Type Ib:

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

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Anatomical Context for Achondrogenesis, Type Ib

MalaCards organs/tissues related to Achondrogenesis, Type Ib:

⁴¹

Bone, Testes, Skin, Lung, Heart

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Publications for Achondrogenesis, Type Ib

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 )	Corsi A....Bianco P.	2001
2	Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )	Superti-Furga A....Gitzelmann R.	1996
3	Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. ( 8160740 )	Freisinger P....Bonaventure J.	1994
4	A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. ( 7977372 )	Superti-Furga A.	1994

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Genes for Achondrogenesis, Type Ib

Genes related to Achondrogenesis, Type Ib (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	1724.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	7923357 8528239 8571951 (more) 20301689 15316973 18925670 9637425 20301493 20301483 20301524 18708426 15720248 17638425 9822202 11570921 14692227 11241838 8571951 11457925
2	FLNB	Filamin B	Protein Coding	15.58	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	SLC26A3	Solute Carrier Family 26 Member 3	Protein Coding	15.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	BGN	Biglycan	Protein Coding	14.94	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SLC26A5	Solute Carrier Family 26 Member 5	Protein Coding	14.85	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	14.83	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	DCN	Decorin	Protein Coding	14.77	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	CCK	Cholecystokinin	Protein Coding	14.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Achondrogenesis, Type Ib

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

⁷⁵

#	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 64)

#	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.1976delT (p.Leu659Terfs)	deletion	Likely pathogenic	rs386833499	GRCh37	Chromosome 5, 149361132: 149361132
18	SLC26A2	NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs)	deletion	Likely pathogenic	rs386833499	GRCh38	Chromosome 5, 149981569: 149981569
19	SLC26A2	NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)	deletion	Pathogenic/Likely pathogenic	rs121908077	GRCh37	Chromosome 5, 149360176: 149360178
20	SLC26A2	NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)	deletion	Pathogenic/Likely pathogenic	rs121908077	GRCh38	Chromosome 5, 149980613: 149980615
21	SLC26A2	NM_000112.3(SLC26A2): c.1410A> G (p.Val470=)	single nucleotide variant	Benign/Likely benign	rs115777661	GRCh37	Chromosome 5, 149360566: 149360566
22	SLC26A2	NM_000112.3(SLC26A2): c.1410A> G (p.Val470=)	single nucleotide variant	Benign/Likely benign	rs115777661	GRCh38	Chromosome 5, 149981003: 149981003
23	SLC26A2	NM_000112.3(SLC26A2): c.229A> C (p.Asn77His)	single nucleotide variant	Benign	rs76784312	GRCh37	Chromosome 5, 149357444: 149357444
24	SLC26A2	NM_000112.3(SLC26A2): c.229A> C (p.Asn77His)	single nucleotide variant	Benign	rs76784312	GRCh38	Chromosome 5, 149977881: 149977881
25	SLC26A2	NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter)	single nucleotide variant	Likely pathogenic	rs1057517523	GRCh37	Chromosome 5, 149357400: 149357400
26	SLC26A2	NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter)	single nucleotide variant	Likely pathogenic	rs1057517523	GRCh38	Chromosome 5, 149977837: 149977837
27	SLC26A2	NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs)	deletion	Likely pathogenic	rs1057517496	GRCh37	Chromosome 5, 149357403: 149357403
28	SLC26A2	NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs)	deletion	Likely pathogenic	rs1057517496	GRCh38	Chromosome 5, 149977840: 149977840
29	SLC26A2	NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs)	deletion	Likely pathogenic	rs1057517462	GRCh38	Chromosome 5, 149977859: 149977859
30	SLC26A2	NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs)	deletion	Likely pathogenic	rs1057517462	GRCh37	Chromosome 5, 149357422: 149357422
31	SLC26A2	NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs)	duplication	Likely pathogenic	rs1057517504	GRCh38	Chromosome 5, 149977891: 149977895
32	SLC26A2	NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs)	duplication	Likely pathogenic	rs1057517504	GRCh37	Chromosome 5, 149357454: 149357458
33	SLC26A2	NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs)	deletion	Likely pathogenic	rs1057517527	GRCh37	Chromosome 5, 149357700: 149357701
34	SLC26A2	NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs)	deletion	Likely pathogenic	rs1057517527	GRCh38	Chromosome 5, 149978137: 149978138
35	SLC26A2	NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter)	single nucleotide variant	Likely pathogenic	rs1057517483	GRCh38	Chromosome 5, 149978193: 149978193
36	SLC26A2	NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter)	single nucleotide variant	Likely pathogenic	rs1057517483	GRCh37	Chromosome 5, 149357756: 149357756
37	SLC26A2	NM_000112.3(SLC26A2): c.699+2T> C	single nucleotide variant	Pathogenic	rs1057517461	GRCh38	Chromosome 5, 149978353: 149978353
38	SLC26A2	NM_000112.3(SLC26A2): c.699+2T> C	single nucleotide variant	Pathogenic	rs1057517461	GRCh37	Chromosome 5, 149357916: 149357916
39	SLC26A2	NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs)	deletion	Likely pathogenic	rs1057517524	GRCh37	Chromosome 5, 149359892: 149359895
40	SLC26A2	NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs)	deletion	Likely pathogenic	rs1057517524	GRCh38	Chromosome 5, 149980329: 149980332
41	SLC26A2	NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter)	single nucleotide variant	Likely pathogenic	rs1057517514	GRCh38	Chromosome 5, 149980339: 149980339
42	SLC26A2	NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter)	single nucleotide variant	Likely pathogenic	rs1057517514	GRCh37	Chromosome 5, 149359902: 149359902
43	SLC26A2	NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs)	deletion	Likely pathogenic	rs1057517526	GRCh38	Chromosome 5, 149980511: 149980511
44	SLC26A2	NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs)	deletion	Likely pathogenic	rs1057517526	GRCh37	Chromosome 5, 149360074: 149360074
45	SLC26A2	NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs)	deletion	Likely pathogenic	rs1057517495	GRCh37	Chromosome 5, 149360078: 149360078
46	SLC26A2	NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs)	deletion	Likely pathogenic	rs1057517495	GRCh38	Chromosome 5, 149980515: 149980515
47	SLC26A2	NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter)	single nucleotide variant	Likely pathogenic	rs1057517532	GRCh37	Chromosome 5, 149360216: 149360216
48	SLC26A2	NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter)	single nucleotide variant	Likely pathogenic	rs1057517532	GRCh38	Chromosome 5, 149980653: 149980653
49	SLC26A2	NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs)	duplication	Likely pathogenic	rs1057517471	GRCh38	Chromosome 5, 149980904: 149980904
50	SLC26A2	NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs)	duplication	Likely pathogenic	rs1057517471	GRCh37	Chromosome 5, 149360467: 149360467

Sources

Expression for Achondrogenesis, Type Ib

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

Sources

Pathways for Achondrogenesis, Type Ib

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

#	Super pathways	Score	Top Affiliating Genes
1	ECM proteoglycans ⁶⁶	10.71	BGN DCN
2	Articular Cartilage Extracellular Matrix Pathway ⁶⁵	10.18	BGN DCN

Sources

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	lysosomal lumen	GO:0043202	9.16	BGN DCN
2	brush border membrane	GO:0031526	8.96	SLC26A3 SLC26A4
3	apical plasma membrane	GO:0016324	8.8	SLC26A2 SLC26A3 SLC26A4

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	9.83	SLC26A2 SLC26A3 SLC26A4 SLC26A5
2	regulation of membrane potential	GO:0042391	9.71	SLC26A2 SLC26A3 SLC26A4 SLC26A5
3	chloride transmembrane transport	GO:1902476	9.67	SLC26A2 SLC26A3 SLC26A4 SLC26A5
4	bicarbonate transport	GO:0015701	9.62	SLC26A2 SLC26A3 SLC26A4 SLC26A5
5	anion transmembrane transport	GO:0098656	9.61	SLC26A3 SLC26A4 SLC26A5
6	skeletal muscle tissue development	GO:0007519	9.57	DCN FLNB
7	negative regulation of JAK-STAT cascade	GO:0046426	9.56	BGN DCN
8	regulation of intracellular pH	GO:0051453	9.56	SLC26A2 SLC26A3 SLC26A4 SLC26A5
9	glycosaminoglycan metabolic process	GO:0030203	9.55	BGN DCN
10	chondroitin sulfate biosynthetic process	GO:0030206	9.54	BGN DCN
11	chondroitin sulfate catabolic process	GO:0030207	9.51	BGN DCN
12	dermatan sulfate biosynthetic process	GO:0030208	9.49	BGN DCN
13	positive regulation of mitochondrial depolarization	GO:0051901	9.48	CCK DCN
14	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan	GO:0019800	9.46	BGN DCN
15	sulfate transport	GO:0008272	9.46	SLC26A2 SLC26A3 SLC26A4 SLC26A5
16	sulfate transmembrane transport	GO:1902358	9.26	SLC26A2 SLC26A3 SLC26A4 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	chloride channel activity	GO:0005254	9.67	SLC26A2 SLC26A3 SLC26A4 SLC26A5
2	anion:anion antiporter activity	GO:0015301	9.62	SLC26A2 SLC26A3 SLC26A4 SLC26A5
3	bicarbonate transmembrane transporter activity	GO:0015106	9.56	SLC26A2 SLC26A3 SLC26A4 SLC26A5
4	protein kinase inhibitor activity	GO:0004860	9.48	BGN DCN
5	extracellular matrix binding	GO:0050840	9.46	BGN DCN
6	sulfate transmembrane transporter activity	GO:0015116	9.46	SLC26A2 SLC26A3 SLC26A4 SLC26A5
7	glycosaminoglycan binding	GO:0005539	9.43	BGN DCN
8	chloride transmembrane transporter activity	GO:0015108	9.4	SLC26A3 SLC26A4
9	secondary active sulfate transmembrane transporter activity	GO:0008271	9.26	SLC26A2 SLC26A3 SLC26A4 SLC26A5
10	oxalate transmembrane transporter activity	GO:0019531	8.92	SLC26A2 SLC26A3 SLC26A4 SLC26A5

Sources

Sources for Achondrogenesis, Type Ib

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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¹⁰ dbSNP

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

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²⁸ GO

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

³⁷ KEGG

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia