Autosomal Recessive Stickler Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Autosomal Recessive Stickler Syndrome

MalaCards integrated aliases for Autosomal Recessive Stickler Syndrome:

Name: Autosomal Recessive Stickler Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

autosomal recessive stickler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other congenital malformation syndromes with other skeletal changes

Orphanet: ⁵⁸

Rare eye diseases

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

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Summaries for Autosomal Recessive Stickler Syndrome

MalaCards based summary : Autosomal Recessive Stickler Syndrome is related to vitreoretinal degeneration and intervertebral disc disease. An important gene associated with Autosomal Recessive Stickler Syndrome is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye and bone, and related phenotypes are sensorineural hearing impairment and short stature

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Related Diseases for Autosomal Recessive Stickler Syndrome

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I	Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv	Stickler Syndrome, Type V
Autosomal Recessive Stickler Syndrome

Diseases related to Autosomal Recessive Stickler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)

#	Related Disease	Score	Top Affiliating Genes
1	vitreoretinal degeneration	29.5	COL9A2 COL11A1
2	intervertebral disc disease	29.1	COL9A3 COL9A2 COL11A1
3	retinal detachment	29.1	COL9A2 COL9A1 COL11A1
4	myopia	28.7	LOXL3 COL9A2 COL9A1 COL11A1
5	cleft palate, isolated	28.6	COL9A2 COL9A1 COL11A1
6	stickler syndrome	28.5	LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
7	multiple epiphyseal dysplasia	28.5	COL9A3 COL9A2 COL9A1 COL11A1
8	joint laxity, short stature, and myopia	10.4
9	sensorineural hearing loss	10.2
10	stickler syndrome, type i	10.1
11	stickler syndrome, type iv	10.1
12	stickler syndrome, type v	10.1
13	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.1
14	arthropathy	10.1
15	cataract	10.1
16	vitreoretinopathy	10.1
17	spondyloepiphyseal dysplasia congenita	9.7	COL9A3 COL9A1
18	macroglossia	9.7	COL9A1 COL11A1
19	otospondylomegaepiphyseal dysplasia, autosomal dominant	9.7	COL9A1 COL11A1
20	back pain	9.7	COL9A3 COL9A2
21	bone deterioration disease	9.6	COL9A3 COL9A2
22	bone structure disease	9.4	COL9A3 COL9A2
23	vitreous syneresis	9.4	COL9A3 COL9A2 COL11A1
24	multiple epiphyseal dysplasia, autosomal dominant	9.3	COL9A3 COL9A2 COL9A1
25	epiphyseal dysplasia, multiple, 6	9.3	COL9A3 COL9A2 COL9A1
26	epiphyseal dysplasia, multiple, 5	9.3	COL9A3 COL9A2 COL9A1
27	epiphyseal dysplasia, multiple, 3	9.3	COL9A3 COL9A2 COL9A1
28	epiphyseal dysplasia, multiple, 2	9.3	COL9A3 COL9A2 COL9A1
29	epiphyseal dysplasia, multiple, 1	9.3	COL9A3 COL9A2 COL9A1
30	atelosteogenesis	9.3	COL9A3 COL9A2 COL9A1
31	epiphyseal dysplasia, multiple, 4	9.3	COL9A3 COL9A2 COL9A1
32	multiple epiphyseal dysplasia due to collagen 9 anomaly	9.3	COL9A3 COL9A2 COL9A1
33	osteochondrosis	9.3	COL9A3 COL9A2 COL9A1
34	achondrogenesis	9.3	COL9A3 COL9A2 COL9A1
35	diastrophic dysplasia	9.3	COL9A3 COL9A2 COL9A1
36	osteochondritis dissecans	9.3	COL9A3 COL9A2 COL9A1
37	pseudoachondroplasia	9.3	COL9A3 COL9A2 COL9A1
38	bone development disease	9.2	COL9A3 COL9A2 COL9A1
39	spondyloepiphyseal dysplasia with congenital joint dislocations	9.2	COL9A2 COL9A1 COL11A1
40	clubfoot	9.2	COL9A2 COL9A1
41	kniest dysplasia	9.0	COL9A3 COL9A2 COL9A1 COL11A1
42	marshall syndrome	9.0	COL9A3 COL9A2 COL9A1 COL11A1
43	otospondylomegaepiphyseal dysplasia, autosomal recessive	9.0	COL9A3 COL9A2 COL9A1 COL11A1
44	fibrochondrogenesis	9.0	COL9A3 COL9A2 COL9A1 COL11A1
45	spinal stenosis	9.0	COL9A3 COL9A2 COL9A1 COL11A1
46	spondyloepimetaphyseal dysplasia, matrilin-3 related	9.0	COL9A3 COL9A2 COL9A1 COL11A1
47	odontochondrodysplasia	8.9	COL9A3 COL9A2 COL9A1 COL11A1

Graphical network of the top 20 diseases related to Autosomal Recessive Stickler Syndrome:

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Symptoms & Phenotypes for Autosomal Recessive Stickler Syndrome

Human phenotypes related to Autosomal Recessive Stickler Syndrome:

⁵⁸ ³¹ (show all 19)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	sensorineural hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000407
2	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
3	epiphyseal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002656
4	genu valgum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002857
5	flat face ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012368
6	cataract ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000518
7	cleft palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000175
8	micrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000347
9	myopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000545
10	retinal detachment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000541
11	amblyopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000646
12	platyspondyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000926
13	joint hyperflexibility ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005692
14	malar flattening ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000272
15	astigmatism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000483
16	irregular vertebral endplates ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003301
17	vitreoretinopathy ³¹	frequent (33%)		HP:0007773
18	abnormality of epiphysis morphology ⁵⁸		Frequent (79-30%)
19	vitreoretinal degeneration ⁵⁸		Frequent (79-30%)

GenomeRNAi Phenotypes related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased gamma-H2AX phosphorylation	GR00053-A	8.92	COL11A1 COL9A1 COL9A2 COL9A3

MGI Mouse Phenotypes related to Autosomal Recessive Stickler Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.26	COL11A1 COL9A1 COL9A2 COL9A3
2	skeleton	MP:0005390	8.92	COL11A1 COL9A1 COL9A2 LOXL3

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Drugs & Therapeutics for Autosomal Recessive Stickler Syndrome

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Stickler Syndrome

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Genetic Tests for Autosomal Recessive Stickler Syndrome

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Anatomical Context for Autosomal Recessive Stickler Syndrome

MalaCards organs/tissues related to Autosomal Recessive Stickler Syndrome:

⁴⁰

Eye, Bone

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Publications for Autosomal Recessive Stickler Syndrome

Articles related to Autosomal Recessive Stickler Syndrome:

#	Title	Authors	PMID	Year
1	A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ⁶ ⁶¹	Baker S...Ala-Kokko L	21671392	2011
2	Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. ⁶¹ ⁶	Nikopoulos K...van den Born LI	21421862	2011
3	A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. ⁶	Van Camp G...Usami S	16909383	2006
4	Stickler Syndrome ⁶	Robin NH...Ala-Kokko L	20301479	2000
5	Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss. ⁶¹	Hofrichter MAH...Vona B	31315069	2019
6	LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. ⁶¹	Chan TK...El-Hattab AW	30362103	2019
7	Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. ⁶¹	Hanson-Kahn A...Hudgins L	30450842	2018
8	LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. ⁶¹	Alzahrani F...Alkuraya FS	25663169	2015
9	Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. ⁶¹	Faletra F...Gasparini P	24273071	2014

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Genes for Autosomal Recessive Stickler Syndrome

Genes related to Autosomal Recessive Stickler Syndrome (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	357.13	Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Publications (show sections)
2	LOXL3	Lysyl Oxidase Like 3	Protein Coding	357.13	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
3	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	356.78	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
4	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	356.78	Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Publications (show sections)
5	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Autosomal Recessive Stickler Syndrome

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Expression for Autosomal Recessive Stickler Syndrome

Search GEO for disease gene expression data for Autosomal Recessive Stickler Syndrome.

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Pathways for Autosomal Recessive Stickler Syndrome

Pathways related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.28	COL9A3 COL9A2 COL9A1 COL11A1
2	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	12.92	COL9A3 COL9A2 COL9A1 COL11A1
3	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.63	COL9A3 COL9A2 COL9A1 COL11A1
4	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.51	COL9A3 COL9A2 COL9A1
5	Focal Adhesion ³⁶ ¹ Show member pathways HGF Pathway ⁶³ Integrin-mediated Cell Adhesion ¹	12.44	COL9A3 COL9A2 COL9A1 COL11A1
6	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	12.08	LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
7	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.77	COL9A3 COL9A2 COL9A1
8	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.67	LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
9	ECM proteoglycans ⁶⁵	11.19	COL9A3 COL9A2 COL9A1
10	Gastric Cancer Network 2 ¹	10.98	COL9A3 COL9A1
11	NCAM1 interactions ⁶⁵	10.9	COL9A3 COL9A2 COL9A1
12	G-protein signaling_Rap2B regulation pathway ²²	10.53	COL9A3 COL9A2 COL9A1 COL11A1

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GO Terms for Autosomal Recessive Stickler Syndrome

Cellular components related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.8	LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
2	extracellular space	GO:0005615	9.77	LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
3	collagen-containing extracellular matrix	GO:0062023	9.62	COL9A3 COL9A2 COL9A1 COL11A1
4	endoplasmic reticulum lumen	GO:0005788	9.56	COL9A3 COL9A2 COL9A1 COL11A1
5	extracellular matrix	GO:0031012	9.46	COL9A3 COL9A2 COL9A1 COL11A1
6	collagen trimer	GO:0005581	9.26	COL9A3 COL9A2 COL9A1 COL11A1
7	collagen type IX trimer	GO:0005594	8.8	COL9A3 COL9A2 COL9A1

Biological processes related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen fibril organization	GO:0030199	8.96	LOXL3 COL11A1
2	extracellular matrix organization	GO:0030198	8.92	COL9A3 COL9A2 COL9A1 COL11A1

Molecular functions related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	9.26	COL9A3 COL9A2 COL9A1 COL11A1
2	extracellular matrix structural constituent conferring tensile strength	GO:0030020	8.92	COL9A3 COL9A2 COL9A1 COL11A1

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Sources for Autosomal Recessive Stickler Syndrome

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⁷¹ UMLS

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⁷⁴ Wikipedia

Autosomal Recessive Stickler Syndrome

Aliases & Classifications for Autosomal Recessive Stickler Syndrome

MalaCards integrated aliases for Autosomal Recessive Stickler Syndrome:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Autosomal Recessive Stickler Syndrome

Related Diseases for Autosomal Recessive Stickler Syndrome

Diseases in the Stickler Syndrome family:

Diseases related to Autosomal Recessive Stickler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Autosomal Recessive Stickler Syndrome:

Symptoms & Phenotypes for Autosomal Recessive Stickler Syndrome

Human phenotypes related to Autosomal Recessive Stickler Syndrome:

GenomeRNAi Phenotypes related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Autosomal Recessive Stickler Syndrome:

Drugs & Therapeutics for Autosomal Recessive Stickler Syndrome

Genetic Tests for Autosomal Recessive Stickler Syndrome

Anatomical Context for Autosomal Recessive Stickler Syndrome

MalaCards organs/tissues related to Autosomal Recessive Stickler Syndrome:

Publications for Autosomal Recessive Stickler Syndrome

Articles related to Autosomal Recessive Stickler Syndrome:

Genes for Autosomal Recessive Stickler Syndrome

Genes related to Autosomal Recessive Stickler Syndrome (5 elite genes):

Variations for Autosomal Recessive Stickler Syndrome

Expression for Autosomal Recessive Stickler Syndrome

Pathways for Autosomal Recessive Stickler Syndrome

Pathways related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

GO Terms for Autosomal Recessive Stickler Syndrome

Cellular components related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

Sources for Autosomal Recessive Stickler Syndrome