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

MCID: ACH011 MIFTS: 53	Achondrogenesis Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Achondrogenesis

MalaCards integrated aliases for Achondrogenesis:

Name: Achondrogenesis ¹² ⁷³ ²⁰ ⁴³ ⁵⁸ ²⁹ ⁶ ¹⁵ ³⁹ ³²

Achondrogenesis Syndrome ⁴³

Characteristics:

Orphanet epidemiological data:

⁵⁸

achondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³² ³³

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: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080043

ICD10 ³² Q77.0

ICD10 via Orphanet ³³ Q77.0

UMLS via Orphanet ⁷¹ C0001079

Orphanet ⁵⁸ ORPHA932

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Summaries for Achondrogenesis

MedlinePlus Genetics : ⁴³ Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.Researchers have described at least three forms of achondrogenesis, designated as type 1A, type 1B, and type 2. The types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. However, types 1A and 1B are often hard to tell apart without genetic testing.Achondrogenesis type 1A, which is also called the Houston-Harris type, is the least well understood of the three forms. Affected infants have extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis.Achondrogenesis type 1B, also known as the Parenti-Fraccaro type, is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may turn inward and upward (clubfeet). Affected infants frequently have a soft out-pouching around the belly-button (an umbilical hernia) or near the groin (an inguinal hernia).Infants with achondrogenesis type 2, which is sometimes called the Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. This condition is also associated with a lack of ossification in the spine and pelvis. Distinctive facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis, in which excess fluid builds up in the body before birth.

MalaCards based summary : Achondrogenesis, also known as achondrogenesis syndrome, is related to achondrogenesis, type ia and achondrogenesis, type ib. An important gene associated with Achondrogenesis is TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone and heart, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : ¹² An osteochondrodysplasia that has material basis in deficient endochondral ossification which results in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

GARD : ²⁰ 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, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2. Achondrogenesis is usually diagnosed during pregnancy by ultrasound and genetic testing is used to distinguish between the three types. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1A is caused by mutations in the TRIP11 gene. Type 1B is caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is caused by new ( de novo ) mutations in the COL2A1 gene. Because of the severity of this condition, most infants with achondrogenesis die before or shortly after birth.

Wikipedia : ⁷³ Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

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Related Diseases for Achondrogenesis

Diseases in the Achondrogenesis family:

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

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

(show top 50) (show all 100)

#	Related Disease	Score	Top Affiliating Genes
1	achondrogenesis, type ia	33.2	TRIP11 SLC26A2 GOLGB1 COL2A1
2	achondrogenesis, type ib	32.9	SLC26A2 SLC13A1 MATN3 COL9A3 COL9A2 COL9A1
3	achondrogenesis, type ii	32.6	SLC26A2 MATN3 COMP COL9A1 COL2A1 COL11A1
4	hypochondrogenesis	31.8	SLC26A2 MATN3 COL9A2 COL9A1 COL2A1 ACAN
5	spondyloepiphyseal dysplasia congenita	31.5	MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
6	spondyloepiphyseal dysplasia with congenital joint dislocations	31.3	SLC26A2 COMP COL9A3 COL9A2 COL9A1 COL2A1
7	achondroplasia	30.5	IFT20 COMP COL2A1 ACAN
8	diastrophic dysplasia	30.3	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
9	schneckenbecken dysplasia	30.2	TRIP11 SLC35D1 SLC26A2 COL11A1
10	spondyloepimetaphyseal dysplasia	30.2	MATN3 COL2A1 ACAN
11	epiphyseal dysplasia, multiple, 4	30.1	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
12	osteochondrodysplasia	30.1	TRIP11 SLC35D1 SLC26A2 MATN3 COMP COL9A3
13	kniest dysplasia	29.9	SLC35D1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
14	stickler syndrome	29.9	MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
15	cleft palate, isolated	29.5	COL9A2 COL9A1 COL2A1 COL11A1
16	pyknoachondrogenesis	11.2
17	chondrodysplasia, grebe type	11.2
18	boomerang dysplasia	11.0
19	atelosteogenesis, type i	10.9
20	dwarfism	10.4
21	back pain	10.4	COL9A3 COL9A2
22	kohler's disease	10.4	COL2A1 COL11A1
23	scheuermann disease	10.4	COL9A3 COL2A1
24	chondromalacia	10.4	COMP ACAN
25	spondylolysis	10.4	SLC26A2 ACAN
26	coxa vara	10.4	COL2A1 COL10A1
27	spondylocarpotarsal synostosis syndrome	10.4	TRIP11 SLC35D1 SLC26A2
28	legg-calve-perthes disease	10.4	SLC26A2 MATN3 COL2A1
29	progressive pseudorheumatoid dysplasia	10.3	COL2A1 COL10A1
30	retinal lattice degeneration	10.3	COL9A3 COL2A1
31	stickler syndrome, type i	10.3	COL9A2 COL2A1 COL11A1
32	vitreoretinal degeneration	10.3	COL9A2 COL2A1 COL11A1
33	macroglossia	10.3	COL9A1 COL2A1 COL11A1
34	platyspondylic lethal skeletal dysplasia, torrance type	10.3	COMP COL2A1 COL10A1
35	otospondylomegaepiphyseal dysplasia, autosomal dominant	10.3	COL9A1 COL2A1 COL11A1
36	patella, chondromalacia of	10.3	COMP COL2A1 ACAN
37	metaphyseal dysplasia	10.3	MATN3 COL2A1 COL10A1
38	spondyloepimetaphyseal dysplasia, strudwick type	10.3	COL2A1 COL10A1
39	dyggve-melchior-clausen disease	10.3	TRIP11 GORASP1 GOLGA2
40	intervertebral disc disease	10.3	COL9A3 COL9A2 COL11A1
41	bone deterioration disease	10.3	COL9A3 COL9A2 COL2A1 ACAN
42	bone structure disease	10.3	COL9A3 COL9A2 COL2A1 ACAN
43	otospondylomegaepiphyseal dysplasia, autosomal recessive	10.3	COL9A2 COL9A1 COL2A1 COL11A1
44	retinal perforation	10.3	COL2A1 COL11A1
45	autosomal recessive stickler syndrome	10.3	COL9A3 COL9A2 COL9A1 COL11A1
46	spondylolisthesis	10.2	COL9A3 ACAN
47	vohwinkel syndrome	10.2	GORASP1 GOLGB1 GOLGA2
48	synovitis	10.2	COMP COL2A1 ACAN
49	cartilage disease	10.2	COMP COL2A1 COL10A1 ACAN
50	arthropathy	10.2	COMP COL2A1 ACAN

Graphical network of the top 20 diseases related to Achondrogenesis:

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Symptoms & Phenotypes for Achondrogenesis

Human phenotypes related to Achondrogenesis:

⁵⁸ ³¹ (show all 24)

#	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	skeletal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002652
5	short nose ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003196
6	anteverted nares ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000463
7	short thorax ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010306
8	hydrops fetalis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001789
9	flat face ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012368
10	micrognathia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000347
11	thickened nuchal skin fold ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000474
12	abnormality of bone mineral density ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004348
13	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
14	aplasia/hypoplasia of the lungs ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006703
15	narrow chest ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000774
16	micromelia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002983
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	inguinal hernia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000023
20	umbilical hernia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001537
21	polyhydramnios ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001561
22	cystic hygroma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000476
23	abnormality of cardiovascular system morphology ³¹	occasional (7.5%)		HP:0030680
24	malformation of the heart and great vessels ⁵⁸		Occasional (29-5%)

MGI Mouse Phenotypes related to Achondrogenesis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.1	BLOC1S1 COL10A1 COL2A1 COL9A1 COMP GOLGA2
2	growth/size/body region	MP:0005378	9.97	COL10A1 COL11A1 COL2A1 COL9A3 COMP GOLGA2
3	craniofacial	MP:0005382	9.8	COL10A1 COL11A1 COL2A1 GOLGB1 SLC26A2 SLC35D1
4	limbs/digits/tail	MP:0005371	9.7	COL10A1 COL11A1 COL2A1 COL9A1 COL9A2 COMP
5	skeleton	MP:0005390	9.4	COL10A1 COL11A1 COL2A1 COL9A1 COL9A2 COMP

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Drugs & Therapeutics for Achondrogenesis

Search Clinical Trials , NIH Clinical Center for Achondrogenesis

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Genetic Tests for Achondrogenesis

Genetic tests related to Achondrogenesis:

#	Genetic test	Affiliating Genes
1	Achondrogenesis ²⁹

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Anatomical Context for Achondrogenesis

MalaCards organs/tissues related to Achondrogenesis:

⁴⁰

Bone, Heart

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Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 255)

#	Title	Authors	PMID	Year
1	Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. ⁶ ⁶¹ ²⁰	Vanegas S...Pachajoa H	29872333	2018
2	Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. ⁶ ⁶¹	Wehrle A...Lausch E	30728324	2019
3	A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. ⁶ ⁶¹	Zechi-Ceide RM...Guion-Almeida ML	23840040	2013
4	Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. ⁶¹ ⁶	Barbosa M...Bonafe L	21155763	2011
5	Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ⁶ ⁶¹	Dwyer E...Pauli RM	21077202	2010
6	Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. ⁶¹ ⁶	Smits P...Beier DR	20089971	2010
7	A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. ⁶¹ ⁶	Forzano F...Faravelli F	17994563	2007
8	A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ⁶¹ ⁶	Maeda K...Ikegawa S	16642506	2006
9	Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. ⁶ ⁶¹	Karniski LP	15294877	2004
10	Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ⁶¹ ⁶	Macias-Gomez NM...Barros-Nunez P	15316973	2004
11	Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. ⁶¹ ⁶	Faivre L...Mortier G	15054848	2004
12	Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. ⁶ ⁶¹	Makitie O...Cole WG	12966518	2003
13	Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. ⁶¹ ⁶	Karniski LP	11448940	2001
14	Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. ⁶ ⁶¹	Rossi A...Superti-Furga A	11241838	2001
15	Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. ⁶ ⁶¹	Superti-Furga A...Kunze J	10465113	1999
16	Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. ⁶¹ ⁶	Cai G...Ozono K	9637425	1998
17	Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. ⁶ ⁶¹	Rossi A...Cetta G	9342225	1997
18	Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ⁶¹ ⁶	Rossi A...Superti-Furga A	8931695	1996
19	Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. ⁶ ⁶¹	Hastbacka J...Lander ES	8571951	1996
20	Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ⁶¹ ⁶	Superti-Furga A...Gitzelmann R	8528239	1996
21	A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. ⁶ ⁶¹	Mortier GR...Cohn DH	7757081	1995
22	A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. ⁶ ⁶¹	Chan D...Bateman JF	7829510	1995
23	Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. ⁶	Chen R...Friend SH	27065010	2016
24	Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. ⁶	Liu F...Ma D	26375458	2015
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	Jackson GC...Briggs MD	21922596	2012
26	Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. ⁶	Lacassie Y...Lazarin GA	22052783	2011
27	New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. ⁶	Czarny-Ratajczak M...Kozlowski K	21077204	2010
28	Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. ⁶	Cho TJ...Choi IH	20592910	2010
29	Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. ⁶¹ ²⁰	Comstock JM...Opitz JM	20583175	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	Hinrichs T...Mattes T	20525296	2010
31	Regulated transport of sulfate and oxalate by SLC26A2/DTDST. ⁶	Heneghan JF...Alper SL	20219950	2010
32	A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. ⁶	Panzer KM...Pauli RM	18925670	2008
33	Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. ⁶	Ballhausen D...Superti-Furga A	12525546	2003
34	A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. ⁶	Czarny-Ratajczak M...Ala-Kokko L	11565064	2001
35	Sulphate transporter gene mutations in apparently isolated club foot. ⁶	Huber C...Le Merrer M	11303514	2001
36	Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). ⁶	Hastbacka J...Lander ES	10482955	1999
37	The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. ⁶	Hastbacka J...Weaver A	7923357	1994
38	A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. ⁶¹	Jacinto JGP...Bolcato M	33316082	2021
39	Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. ⁶¹	Del Pino M...Fano V	33746040	2021
40	Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography. ⁶¹	Bisht RU...Goncalves LF	33070083	2021
41	Radiologic Features of Type II and Type XI Collagenopathies. ⁶¹	Handa A...Nishimura G	33186059	2021
42	Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1. ⁶¹	Al-Sannaa NA...Mortier G	32896647	2020
43	Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway. ⁶¹	Vanyai HK...Thompson B	32994166	2020
44	Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. ⁶¹	Medina CTN...Pogue R	31903676	2020
45	Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. ⁶¹	Sato T...Yamada T	31880411	2020
46	Fetal magnetic resonance imaging of skeletal dysplasias. ⁶¹	Gilligan LA...Kline-Fath BM	31776601	2020
47	Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. ⁶¹	Girisha KM...Mortier GR	31755234	2020
48	Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. ⁶¹	Kausar M...Makitie O	30423444	2019
49	Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene. ⁶¹	Dogan P...Akdag A	31523626	2019
50	Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. ⁶¹	Zheng C...Yang L	30685387	2019

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Genes for Achondrogenesis

Genes related to Achondrogenesis (3 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TRIP11	Thyroid Hormone Receptor Interactor 11	Protein Coding	471.64	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20089971
2	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	470.31	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	7829510
3	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	462.68	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	BLOC1S1	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1	Protein Coding	6.99	DISEASES inferred ¹⁵ ¹⁵
5	SLC35D1	Solute Carrier Family 35 Member D1	Protein Coding	6.93	DISEASES inferred ¹⁵
6	IFT20	Intraflagellar Transport 20	Protein Coding	6.8	DISEASES inferred ¹⁵
7	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	6.79	DISEASES inferred ¹⁵
8	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	6.49	DISEASES inferred ¹⁵
9	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	6.4	DISEASES inferred ¹⁵
10	MATN3	Matrilin 3	Protein Coding	6.28	DISEASES inferred ¹⁵
11	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	6.13	DISEASES inferred ¹⁵
12	RAB3IL1	RAB3A Interacting Protein Like 1	Protein Coding	5.96	DISEASES inferred ¹⁵
13	GORASP1	Golgi Reassembly Stacking Protein 1	Protein Coding	5.94	DISEASES inferred ¹⁵
14	ACAN	Aggrecan	Protein Coding	5.93	DISEASES inferred ¹⁵
15	GOLGB1	Golgin B1	Protein Coding	5.9	DISEASES inferred ¹⁵
16	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	5.89	DISEASES inferred ¹⁵
17	ZFPL1	Zinc Finger Protein Like 1	Protein Coding	5.88	DISEASES inferred ¹⁵
18	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	5.8	DISEASES inferred ¹⁵
19	SLC13A1	Solute Carrier Family 13 Member 1	Protein Coding	5.77	DISEASES inferred ¹⁵
20	GOLGA2	Golgin A2	Protein Coding	5.74	DISEASES inferred ¹⁵
21	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	5.72	DISEASES inferred ¹⁵
22	PAM16	Presequence Translocase Associated Motor 16	Protein Coding	5.63	DISEASES inferred ¹⁵
23	MATN1	Matrilin 1	Protein Coding	5.57	DISEASES inferred ¹⁵
24	ARF1	ADP Ribosylation Factor 1	Protein Coding	5.57	DISEASES inferred ¹⁵
25	FMOD	Fibromodulin	Protein Coding	5.55	DISEASES inferred ¹⁵
26	PRELP	Proline And Arginine Rich End Leucine Rich Repeat Protein	Protein Coding	5.54	DISEASES inferred ¹⁵
27	GRIP1	Glutamate Receptor Interacting Protein 1	Protein Coding	5.53	DISEASES inferred ¹⁵
28	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	5.49	DISEASES inferred ¹⁵
29	GCC2	GRIP And Coiled-Coil Domain Containing 2	Protein Coding	5.45	DISEASES inferred ¹⁵
30	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	5.45	DISEASES inferred ¹⁵
31	TMF1	TATA Element Modulatory Factor 1	Protein Coding	5.44	DISEASES inferred ¹⁵
32	USO1	USO1 Vesicle Transport Factor	Protein Coding	5.39	DISEASES inferred ¹⁵
33	SLC26A8	Solute Carrier Family 26 Member 8	Protein Coding	5.33	DISEASES inferred ¹⁵
34	DCN	Decorin	Protein Coding	5.32	DISEASES inferred ¹⁵

Sources

Variations for Achondrogenesis

ClinVar genetic disease variations for Achondrogenesis:

⁶ (show top 50) (show all 535)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TRIP11	NP_004230.2(TRIP11):p.Trp1224Ter	protein only	Pathogenic	5509		GRCh37: GRCh38:
2	TRIP11	NM_004239.4(TRIP11):c.202-2A>G	SNV	Pathogenic	5510	rs863223281	GRCh37: 14:92491766-92491766 GRCh38: 14:92025422-92025422
3	TRIP11	NM_004239.4(TRIP11):c.3477del (p.Gln1160fs)	Deletion	Pathogenic	847890		GRCh37: 14:92470843-92470843 GRCh38: 14:92004499-92004499
4	TRIP11	NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)	SNV	Pathogenic	583332	rs1053206465	GRCh37: 14:92471763-92471763 GRCh38: 14:92005419-92005419
5	TRIP11	NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter)	SNV	Pathogenic	692173	rs1045076800	GRCh37: 14:92470193-92470193 GRCh38: 14:92003849-92003849
6	SLC26A2	NM_000112.4(SLC26A2):c.299del (p.Pro100fs)	Deletion	Pathogenic	816912	rs1581230727	GRCh37: 5:149357512-149357512 GRCh38: 5:149977949-149977949
7	TRIP11	NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs)	Deletion	Pathogenic	579327	rs1566859264	GRCh37: 14:92470967-92470968 GRCh38: 14:92004623-92004624
8	TRIP11	NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)	SNV	Pathogenic	572495	rs34761938	GRCh37: 14:92477364-92477364 GRCh38: 14:92011020-92011020
9	TRIP11	NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer)	Microsatellite	Pathogenic	581029	rs1566867763	GRCh37: 14:92484065-92484066 GRCh38: 14:92017721-92017722
10	TRIP11	NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)	SNV	Pathogenic	692166	rs1595387492	GRCh37: 14:92470842-92470842 GRCh38: 14:92004498-92004498
11	TRIP11	NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter)	SNV	Pathogenic	692167	rs776935608	GRCh37: 14:92470649-92470649 GRCh38: 14:92004305-92004305
12	TRIP11	NM_004239.4(TRIP11):c.2300_2303TCAA[1] (p.Asn768fs)	Microsatellite	Pathogenic	619115	rs1294029121	GRCh37: 14:92472013-92472016 GRCh38: 14:92005669-92005672
13	TRIP11	NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs)	Microsatellite	Pathogenic	648142	rs750602133	GRCh37: 14:92480756-92480757 GRCh38: 14:92014412-92014413
14	TRIP11	NM_004239.4(TRIP11):c.81dup (p.Gly28fs)	Duplication	Pathogenic	968837		GRCh37: 14:92505948-92505949 GRCh38: 14:92039604-92039605
15	TRIP11	NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter)	SNV	Pathogenic	1028711		GRCh37: 14:92471709-92471709 GRCh38: 14:92005365-92005365
16	TRIP11	NM_004239.4(TRIP11):c.389C>A (p.Ser130Ter)	SNV	Pathogenic	1029803		GRCh37: 14:92488099-92488099 GRCh38: 14:92021755-92021755
17	TRIP11	NM_004239.4(TRIP11):c.1661del (p.Thr554fs)	Deletion	Pathogenic	1031396		GRCh37: 14:92472659-92472659 GRCh38: 14:92006315-92006315
18	COL2A1	NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)	SNV	Pathogenic	17371	rs121912878	GRCh37: 12:48372172-48372172 GRCh38: 12:47978389-47978389
19	COL2A1	NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)	SNV	Pathogenic	17372	rs121912879	GRCh37: 12:48373800-48373800 GRCh38: 12:47980017-47980017
20	COL2A1	NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)	SNV	Pathogenic	17388	rs121912888	GRCh37: 12:48379729-48379729 GRCh38: 12:47985946-47985946
21	COL2A1	NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val)	SNV	Pathogenic	17403	rs121912899	GRCh37: 12:48379554-48379554 GRCh38: 12:47985771-47985771
22	SLC26A2	NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp)	SNV	Pathogenic	4093	rs104893920	GRCh37: 5:149360429-149360429 GRCh38: 5:149980866-149980866
23	SLC26A2	NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val)	SNV	Pathogenic	4094	rs104893916	GRCh37: 5:149361189-149361189 GRCh38: 5:149981626-149981626
24	SLC26A2	NM_000112.3(SLC26A2):c.699+2T>C	SNV	Pathogenic	371684	rs1057517461	GRCh37: 5:149357916-149357916 GRCh38: 5:149978353-149978353
25	COL2A1	NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)	SNV	Pathogenic	488485	rs1555166729	GRCh37: 12:48377482-48377482 GRCh38: 12:47983699-47983699
26	SLC26A2	NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter)	SNV	Pathogenic	655153	rs1429562386	GRCh37: 5:149357912-149357912 GRCh38: 5:149978349-149978349
27	SLC26A2	NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)	Duplication	Pathogenic	656557	rs769859976	GRCh37: 5:149357646-149357647 GRCh38: 5:149978083-149978084
28	SLC26A2	NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val)	SNV	Pathogenic	4091	rs104893918	GRCh37: 5:149361300-149361300 GRCh38: 5:149981737-149981737
29	SLC26A2	NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)	SNV	Pathogenic	835924		GRCh37: 5:149360499-149360499 GRCh38: 5:149980936-149980936
30	COL2A1	NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)	SNV	Pathogenic	374042	rs765795867	GRCh37: 12:48371881-48371881 GRCh38: 12:47978098-47978098
31	SLC26A2	NM_000112.4(SLC26A2):c.1432del (p.Leu478fs)	Deletion	Pathogenic	856738		GRCh37: 5:149360586-149360586 GRCh38: 5:149981023-149981023
32	COL2A1	NM_001844.5(COL2A1):c.2355+1G>A	SNV	Pathogenic	932069		GRCh37: 12:48375889-48375889 GRCh38: 12:47982106-47982106
33	SLC26A2	NM_000112.4(SLC26A2):c.819del (p.Leu275fs)	Deletion	Pathogenic	935588		GRCh37: 5:149359974-149359974 GRCh38: 5:149980411-149980411
34	SLC26A2	NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)	SNV	Pathogenic	942484		GRCh37: 5:149360933-149360933 GRCh38: 5:149981370-149981370
35	SLC26A2	NM_000112.3(SLC26A2):c.438del (p.Phe146fs)	Deletion	Pathogenic	557601	rs769859976	GRCh37: 5:149357647-149357647 GRCh38: 5:149978084-149978084
36	SLC26A2	NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter)	SNV	Pathogenic	371786	rs1057517532	GRCh37: 5:149360216-149360216 GRCh38: 5:149980653-149980653
37	SLC26A2	NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)	Deletion	Pathogenic	960730		GRCh37: 5:149360575-149360575 GRCh38: 5:149981012-149981012
38	SLC26A2	NM_000112.4(SLC26A2):c.138dup (p.Gln47fs)	Duplication	Pathogenic	964035		GRCh37: 5:149357352-149357353 GRCh38: 5:149977789-149977790
39	SLC26A2	NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs)	Indel	Pathogenic	967713		GRCh37: 5:149360781-149360806 GRCh38: 5:149981218-149981243
40	SLC26A2	NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)	Deletion	Pathogenic	971526		GRCh37: 5:149357226-149357230 GRCh38: 5:149977663-149977667
41	SLC26A2	NM_000112.3(SLC26A2):c.1650del (p.Ser551fs)	Deletion	Pathogenic	56016	rs386833497	GRCh37: 5:149360806-149360806 GRCh38: 5:149981243-149981243
42	TRIP11	NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)	SNV	Pathogenic	5508	rs267607138	GRCh37: 14:92482073-92482073 GRCh38: 14:92015729-92015729
43	SLC26A2	NM_000112.3(SLC26A2):c.1724del (p.Lys575fs)	Deletion	Pathogenic	4087	rs386833498	GRCh37: 5:149360879-149360879 GRCh38: 5:149981316-149981316
44	SLC26A2	NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del)	Microsatellite	Pathogenic	65558	rs121908077	GRCh37: 5:149360166-149360168 GRCh38: 5:149980603-149980605
45	TRIP11	NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs)	Deletion	Pathogenic	619113	rs1566860640	GRCh37: 14:92472191-92472192 GRCh38: 14:92005847-92005848
46	SLC26A2	NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter)	SNV	Pathogenic	495551	rs766836061	GRCh37: 5:149360863-149360863 GRCh38: 5:149981300-149981300
47	SLC26A2	NM_000112.3(SLC26A2):c.1724del (p.Lys575fs)	Deletion	Pathogenic	4087	rs386833498	GRCh37: 5:149360879-149360879 GRCh38: 5:149981316-149981316
48	SLC26A2	NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs)	Microsatellite	Pathogenic	371777	rs763198695	GRCh37: 5:149357698-149357699 GRCh38: 5:149978135-149978136
49	SLC26A2	NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter)	SNV	Pathogenic	4092	rs104893919	GRCh37: 5:149357747-149357747 GRCh38: 5:149978184-149978184
50	COL2A1	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	SNV	Pathogenic	17366	rs121912874	GRCh37: 12:48372112-48372112 GRCh38: 12:47978329-47978329

Sources

Expression for Achondrogenesis

Search GEO for disease gene expression data for Achondrogenesis.

Sources

Pathways for Achondrogenesis

Pathways related to Achondrogenesis according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶³ Show member pathways FAK1 Signaling ⁶³ GnRH Signaling ⁶³ Inhibition of Angiogenesis by TSP1 ⁶³ Transendothelial Migration of Leukocytes ⁶³ UPA-UPAR Pathway ⁶³	13.18	COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
2	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.76	COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
3	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.74	COMP COL9A3 COL9A2 COL9A1 COL2A1
4	Focal Adhesion ³⁶ ¹ Show member pathways HGF Pathway ⁶³ Integrin-mediated Cell Adhesion ¹	12.7	COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
5	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.58	COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
6	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.26	MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
7	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.75	COMP COL9A3 COL9A2 COL9A1 COL2A1
8	Endochondral Ossification ¹	11.47	COL2A1 COL10A1 ACAN
9	NCAM1 interactions ⁶⁵	11.18	COL9A3 COL9A2 COL9A1
10	Articular Cartilage Extracellular Matrix Pathway ⁶⁴	11.14	COMP COL2A1 ACAN
11	ECM proteoglycans ⁶⁵	10.86	MATN3 COMP COL9A3 COL9A2 COL9A1 ACAN
12	G-protein signaling_Rap2B regulation pathway ²³	10.7	COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1

Sources

GO Terms for Achondrogenesis

Cellular components related to Achondrogenesis according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	10.11	MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
2	extracellular space	GO:0005615	10.1	COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
3	Golgi apparatus	GO:0005794	10.02	ZFPL1 TRIP11 SLC35D1 IFT20 GORASP1 GOLGB1
4	Golgi membrane	GO:0000139	9.91	TRIP11 IFT20 GORASP1 GOLGB1 GOLGA2
5	endoplasmic reticulum lumen	GO:0005788	9.8	MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
6	basement membrane	GO:0005604	9.71	COL9A3 COL9A1 COL2A1 ACAN
7	cis-Golgi network	GO:0005801	9.67	TRIP11 IFT20 GOLGB1 GOLGA2
8	collagen trimer	GO:0005581	9.63	COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
9	endoplasmic reticulum-Golgi intermediate compartment membrane	GO:0033116	9.61	TRIP11 GORASP1 GOLGA2
10	collagen-containing extracellular matrix	GO:0062023	9.61	MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
11	collagen type IX trimer	GO:0005594	9.5	COL9A3 COL9A2 COL9A1
12	extracellular matrix	GO:0031012	9.28	MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

Biological processes related to Achondrogenesis according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	ER to Golgi vesicle-mediated transport	GO:0006888	9.78	TRIP11 GORASP1 GOLGB1 GOLGA2
2	Golgi organization	GO:0007030	9.73	TRIP11 GORASP1 GOLGB1 GOLGA2
3	ossification	GO:0001503	9.71	SLC26A2 COMP COL2A1 COL11A1
4	inner ear receptor cell stereocilium organization	GO:0060122	9.56	TRIP11 IFT20
5	collagen fibril organization	GO:0030199	9.56	COMP COL2A1 COL11A1 ACAN
6	sulfate transmembrane transport	GO:1902358	9.55	SLC26A2 SLC13A1
7	cartilage development	GO:0051216	9.55	TRIP11 MATN3 COMP COL2A1 COL11A1
8	sulfate transport	GO:0008272	9.54	SLC26A2 SLC13A1
9	cartilage condensation	GO:0001502	9.54	COL2A1 COL11A1 ACAN
10	Golgi ribbon formation	GO:0090161	9.52	TRIP11 GOLGA2
11	positive regulation of ubiquitin protein ligase activity	GO:1904668	9.51	GORASP1 GOLGA2
12	chondrocyte development	GO:0002063	9.5	COMP COL11A1 ACAN
13	proteoglycan metabolic process	GO:0006029	9.49	COL2A1 COL11A1
14	tendon development	GO:0035989	9.46	COMP COL11A1
15	skeletal system development	GO:0001501	9.43	MATN3 COMP COL9A2 COL2A1 COL10A1 ACAN
16	extracellular matrix organization	GO:0030198	9.28	MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

Molecular functions related to Achondrogenesis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.43	COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
2	extracellular matrix structural constituent	GO:0005201	9.28	MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
3	proteoglycan binding	GO:0043394	9.26	COMP COL2A1
4	secondary active sulfate transmembrane transporter activity	GO:0008271	9.16	SLC26A2 SLC13A1

Sources

Sources for Achondrogenesis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia