KD
MCID: KNS001
MIFTS: 53

Kniest Dysplasia (KD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Kniest Dysplasia

MalaCards integrated aliases for Kniest Dysplasia:

Name: Kniest Dysplasia 56 12 74 52 25 58 73 36 29 13 54 6 43 15 71
Metatropic Dwarfism, Type Ii 25 71
Kniest Syndrome 25 73
Swiss Cheese Cartilage Dysplasia 25
Metatropic Dysplasia Type Ii 25
Metatropic Dwarfism Type Ii 73
Kniest Chondrodystrophy 25
Dysplasia, Kniest 39
Kd 73
Ks 73

Characteristics:

Orphanet epidemiological data:

58
kniest dysplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
abnormal gait
delayed motor milestones
parental somatic mosaicism in 2 cases produced mild phenotype in the patients

Inheritance:
autosomal dominant


HPO:

31
kniest dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Kniest Dysplasia

Genetics Home Reference : 25 Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot). Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.

MalaCards based summary : Kniest Dysplasia, also known as metatropic dwarfism, type ii, is related to tracheomalacia and vitreoretinal degeneration, and has symptoms including large joints, wide set eyes and round flat face. An important gene associated with Kniest Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include bone, eye and spinal cord, and related phenotypes are depressed nasal bridge and joint stiffness

Disease Ontology : 12 An osteochondrodysplasia that has material basis in a mutation in the COL2A1 gene which results in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has symptom large joints, has symptom wide set eyes, has symptom round flat face.

NIH Rare Diseases : 52 Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene . This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

OMIM : 56 Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by Wilkin et al., 1999). (156550)

KEGG : 36 Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.

UniProtKB/Swiss-Prot : 73 Kniest dysplasia: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.

Wikipedia : 74 Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12.... more...

Related Diseases for Kniest Dysplasia

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

(show top 50) (show all 516)
# Related Disease Score Top Affiliating Genes
1 tracheomalacia 30.5 GALNS COL2A1
2 vitreoretinal degeneration 30.3 COL9A2 COL2A1 COL11A1
3 retinal detachment 30.3 COL9A2 COL9A1 COL2A1 COL11A1
4 achondrogenesis, type ii 30.2 SEMA3A COL2A1 COL11A2
5 metatropic dysplasia 29.9 SEMA3A GALNS COL2A1
6 hypochondrogenesis 29.9 SEMA3A COL9A1 COL2A1
7 cleft palate, isolated 29.9 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
8 myopia 29.9 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
9 clubfoot 29.8 COL9A2 COL9A1 COL2A1
10 sensorineural hearing loss 29.5 COL9A2 COL2A1 COL11A2 COL11A1
11 stickler syndrome 29.2 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
12 achondrogenesis 29.1 SLC35D1 COL9A3 COL9A2 COL9A1 COL2A1
13 osteoarthritis 29.1 COL9A1 COL2A1 COL11A2
14 spondyloepiphyseal dysplasia congenita 28.6 SEMA3A GALNS COL9A3 COL9A1 COL2A1 COL11A2
15 spondyloepiphyseal dysplasia with congenital joint dislocations 28.4 SEMA3A GALNS COL9A2 COL9A1 COL2A1 COL11A2
16 spondyloepimetaphyseal dysplasia, matrilin-3 related 27.7 SEMA3A GALNS COL9A3 COL9A2 COL9A1 COL2A1
17 kawasaki disease 12.3
18 kaposi sarcoma 12.1
19 kleefstra syndrome 11.9
20 kallmann syndrome 11.8
21 hypogonadotropic hypogonadism 11.7
22 krabbe disease 11.7
23 spinal and bulbar muscular atrophy, x-linked 1 11.6
24 b-lymphoblastic leukemia/lymphoma with bcr-abl1 11.4
25 keutel syndrome 11.3
26 yt blood group antigen 11.2
27 malignant hyperthermia 1 11.2
28 hypogonadotropic hypogonadism 7 with or without anosmia 11.2
29 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
30 hypogonadotropic hypogonadism 3 with or without anosmia 11.2
31 hypogonadotropic hypogonadism 1 with or without anosmia 11.2
32 hypogonadotropic hypogonadism 4 with or without anosmia 11.2
33 hypogonadotropic hypogonadism 5 with or without anosmia 11.2
34 hypogonadotropic hypogonadism 6 with or without anosmia 11.2
35 hypogonadotropic hypogonadism 8 with or without anosmia 11.2
36 hypogonadotropic hypogonadism 9 with or without anosmia 11.2
37 hypogonadotropic hypogonadism 10 with or without anosmia 11.2
38 hypogonadotropic hypogonadism 11 with or without anosmia 11.2
39 hypogonadotropic hypogonadism 12 with or without anosmia 11.2
40 hypogonadotropic hypogonadism 13 with or without anosmia 11.2
41 hypogonadotropic hypogonadism 14 with or without anosmia 11.2
42 hypogonadotropic hypogonadism 15 with or without anosmia 11.2
43 hypogonadotropic hypogonadism 16 with or without anosmia 11.2
44 hypogonadotropic hypogonadism 17 with or without anosmia 11.2
45 hypogonadotropic hypogonadism 18 with or without anosmia 11.2
46 hypogonadotropic hypogonadism 19 with or without anosmia 11.2
47 hypogonadotropic hypogonadism 20 with or without anosmia 11.2
48 hypogonadotropic hypogonadism 21 with or without anosmia 11.2
49 hypogonadotropic hypogonadism 22 with or without anosmia 11.2
50 kallmann syndrome with spastic paraplegia 11.1

Graphical network of the top 20 diseases related to Kniest Dysplasia:



Diseases related to Kniest Dysplasia

Symptoms & Phenotypes for Kniest Dysplasia

Human phenotypes related to Kniest Dysplasia:

58 31 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 disproportionate short-trunk short stature 58 31 hallmark (90%) Frequent (79-30%) HP:0003521
4 short thorax 58 31 hallmark (90%) Frequent (79-30%) HP:0010306
5 platyspondyly 58 31 hallmark (90%) Frequent (79-30%) HP:0000926
6 dumbbell-shaped long bone 58 31 hallmark (90%) Frequent (79-30%) HP:0000947
7 vitreoretinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007773
8 skeletal dysplasia 31 hallmark (90%) HP:0002652
9 scoliosis 31 hallmark (90%) HP:0002650
10 kyphosis 31 hallmark (90%) HP:0002808
11 retinopathy 31 hallmark (90%) HP:0000488
12 hyperlordosis 31 hallmark (90%) HP:0003307
13 enlarged thorax 31 hallmark (90%) HP:0100625
14 myopia 31 hallmark (90%) HP:0000545
15 osteoarthritis 31 hallmark (90%) HP:0002758
16 micromelia 31 hallmark (90%) HP:0002983
17 midface retrusion 31 hallmark (90%) HP:0011800
18 rhizomelia 31 hallmark (90%) HP:0008905
19 hypoplastic pelvis 31 hallmark (90%) HP:0008839
20 flared metaphysis 31 hallmark (90%) HP:0003015
21 flattened, squared-off epiphyses of tubular bones 31 hallmark (90%) HP:0006172
22 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
23 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
24 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
25 proptosis 58 31 frequent (33%) Very frequent (99-80%) HP:0000520
26 round face 58 31 frequent (33%) Very frequent (99-80%) HP:0000311
27 hip dislocation 31 frequent (33%) HP:0002827
28 coxa vara 31 frequent (33%) HP:0002812
29 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
30 micrognathia 31 occasional (7.5%) HP:0000347
31 ptosis 31 occasional (7.5%) HP:0000508
32 ectopia lentis 31 occasional (7.5%) HP:0001083
33 glaucoma 31 occasional (7.5%) HP:0000501
34 glossoptosis 31 occasional (7.5%) HP:0000162
35 tracheomalacia 31 occasional (7.5%) HP:0002779
36 respiratory distress 31 occasional (7.5%) HP:0002098
37 tracheal stenosis 31 occasional (7.5%) HP:0002777
38 short neck 58 31 Occasional (29-5%) HP:0000470
39 coronal cleft vertebrae 58 31 Occasional (29-5%) HP:0003417
40 enlarged joints 58 31 Very frequent (99-80%) HP:0003037
41 delayed epiphyseal ossification 58 31 Very frequent (99-80%) HP:0002663
42 abnormal cartilage collagen 58 31 Obligate (100%) HP:0008271
43 inguinal hernia 31 HP:0000023
44 macrocephaly 58 Very rare (<4-1%)
45 umbilical hernia 31 HP:0001537
46 gait disturbance 31 HP:0001288
47 recurrent otitis media 31 HP:0000403
48 motor delay 31 HP:0001270
49 lens luxation 58 Occasional (29-5%)
50 conductive hearing impairment 31 HP:0000405

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Eyes:
myopia
retinal detachment
cataracts
prominent eyes

Skeletal Pelvis:
hip dislocation
coxa vara
flexion contractures of hips
hypoplastic pelvic bones

Respiratory Airways:
tracheomalacia
respiratory distress

Skeletal Hands:
flattened, squared-off epiphyses of tubular bones

Head And Neck Nose:
low nasal bridge

Abdomen External Features:
inguinal hernias
umbilical hernias

Head And Neck Mouth:
cleft palate

Skeletal Spine:
platyspondyly
lumbar kyphoscoliosis
coronal vertebral clefts
occipitoatlantal instability

Head And Neck Face:
round face
flat midface

Skeletal Limbs:
enlarged joints
short, dumbbell appearance of long bones
splayed epiphyses and metaphyses
delayed epiphyseal ossification (early)
megaepiphyses (late)
more
Head And Neck Ears:
conductive hearing loss
frequent otitis media

Growth Height:
short stature, disproportionate (short trunk)
final adult height 106-145cm

Laboratory Abnormalities:
abnormal cartilage collagen on em
keratan sulfaturia in some patients

Clinical features from OMIM:

156550

Symptoms:

12
  • large joints
  • wide set eyes
  • round flat face

UMLS symptoms related to Kniest Dysplasia:


arthralgia, respiratory distress

MGI Mouse Phenotypes related to Kniest Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.63 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 limbs/digits/tail MP:0005371 9.35 COL11A1 COL2A1 COL9A1 COL9A2 SLC35D1
3 skeleton MP:0005390 9.23 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 GALNS

Drugs & Therapeutics for Kniest Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754

Search NIH Clinical Center for Kniest Dysplasia

Cochrane evidence based reviews: kniest dysplasia

Genetic Tests for Kniest Dysplasia

Genetic tests related to Kniest Dysplasia:

# Genetic test Affiliating Genes
1 Kniest Dysplasia 29 COL2A1

Anatomical Context for Kniest Dysplasia

MalaCards organs/tissues related to Kniest Dysplasia:

40
Bone, Eye, Spinal Cord

Publications for Kniest Dysplasia

Articles related to Kniest Dysplasia:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Small deletions in the type II collagen triple helix produce kniest dysplasia. 54 6 56 61
10406661 1999
2
Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. 6 56 54 61
9066888 1997
3
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. 54 61 56 6
7874117 1994
4
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. 54 61 56 6
7981752 1993
5
The ocular findings in Kniest dysplasia. 56 6 61
4014370 1985
6
The Kniest syndrome. 56 6
4214536 1974
7
[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]. 6 56
12995812 1952
8
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. 54 61 6
7849719 1994
9
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. 54 61 56
7700721 1994
10
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. 6 61
9468540 1998
11
Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings. 61 56
8723084 1996
12
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. 56 61
7757081 1995
13
Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly. 61 56
3276736 1988
14
Craniofacial and mucopolysaccharide abnormalities in Kniest dysplasia. 61 56
2931448 1985
15
Kniest dysplasia: neonatal death with necropsy. 61 56
7446563 1980
16
Kniest dysplasia. A histochemical study of the growth plate. 56 61
514691 1979
17
Type II Collagen Disorders Overview 6
31021589 2019
18
The Kniest (Swiss cheese cartilage) syndrome. Description of a distinct arthropathy. 56
420720 1979
19
Kniest syndrome. 56
984048 1976
20
Kniest syndrome with dominant inheritance and mucopolysacchariduria. 56
128291 1975
21
A case of Kniest dysplasia with retinal detachment and the mutation analysis. 61 54
14644246 2003
22
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia. 61 54
9675039 1998
23
Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. 61 54
9269170 1997
24
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia. 54 61
8893763 1996
25
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. 54 61
8863156 1996
26
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. 61 54
7977371 1994
27
The type II collagenopathies: a spectrum of chondrodysplasias. 54 61
8157027 1994
28
Reduction Mammaplasty in a Patient with Kniest Dysplasia: Case Report and Literature Review. 61
32537328 2020
29
Fetal magnetic resonance imaging of skeletal dysplasias. 61
31776601 2020
30
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia. 61
32071555 2020
31
Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature. 61
31213073 2019
32
Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report. 61
30285969 2019
33
Challenging Implantation of Hip Prosthesis in a 32-year-old Patient with Kniest Syndrome. 61
31245322 2019
34
Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report. 61
30303846 2018
35
Unsuccessful tracheal intubation in a patient with Kniest dysplasia undergoing repeated general anesthesia: a case report. 61
32025981 2018
36
Mandibular Distraction in a Patient With Type II Collagenopathy. 61
27152560 2017
37
Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue? 61
28109507 2017
38
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 61
26626311 2016
39
Association between Kniest dysplasia and chondrosarcoma in a child. 61
26345137 2015
40
[Kniest dysplasia due to mutation of COL2A1 gene]. 61
26037341 2015
41
Stickler syndrome associated with epilepsy: report of three cases. 61
25809783 2015
42
Ophthalmic and molecular genetic findings in Kniest dysplasia. 61
25592122 2015
43
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 61
25604898 2015
44
[Paediatric retinal detachment and hereditary vitreoretinal disorders]. 61
23986190 2013
45
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes. 61
23420745 2013
46
Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. 61
23188137 2013
47
[Kniest dysplasia]. 61
23247797 2012
48
Somatic mosaicism and the phenotypic expression of COL2A1 mutations. 61
22496037 2012
49
Review of cervical spine anomalies in genetic syndromes. 61
22045003 2012
50
Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography. 61
21250907 2011

Variations for Kniest Dysplasia

ClinVar genetic disease variations for Kniest Dysplasia:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 COL2A1, 28-BP DELdeletion Pathogenic 17362
2 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
3 COL2A1 COL2A1, IVS20, A-G, -2SNV Pathogenic 17369
4 COL2A1 NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp)SNV Pathogenic 17370 rs121912877 12:48387608-48387608 12:47993825-47993825
5 COL2A1 NM_001844.5(COL2A1):c.1266+1deldeletion Pathogenic 17375 rs587776847 12:48381051-48381051 12:47987268-47987268
6 COL2A1 NM_001844.5(COL2A1):c.1581+5G>ASNV Pathogenic 17376 12:48379690-48379690 12:47985907-47985907
7 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
8 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
9 COL2A1 NM_001844.5(COL2A1):c.1122+1G>CSNV Likely pathogenic 623297 rs1565686170 12:48383010-48383010 12:47989227-47989227
10 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)SNV Conflicting interpretations of pathogenicity 308931 rs142770543 12:48388220-48388220 12:47994437-47994437
11 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)SNV Uncertain significance 547841 rs886042009 12:48374344-48374344 12:47980561-47980561
12 COL2A1 NM_001844.5(COL2A1):c.1581+4_1581+7deldeletion Uncertain significance 599098 rs1565682292 12:48379688-48379691 12:47985905-47985908

UniProtKB/Swiss-Prot genetic disease variations for Kniest Dysplasia:

73
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly303Asp VAR_001741 rs121912877

Expression for Kniest Dysplasia

Search GEO for disease gene expression data for Kniest Dysplasia.

Pathways for Kniest Dysplasia

Pathways related to Kniest Dysplasia according to KEGG:

36
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

Pathways related to Kniest Dysplasia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 SEMA3A COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
2
Show member pathways
13.08 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3
Show member pathways
12.65 COL9A3 COL9A2 COL9A1 COL2A1
4
Show member pathways
12.57 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5
Show member pathways
12.46 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6
Show member pathways
12.39 SEMA3A COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
7
Show member pathways
12.29 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
8
Show member pathways
11.86 COL9A3 COL9A2 COL9A1 COL2A1
9 11.36 COL9A3 COL9A2 COL9A1
10 11.15 COL9A3 COL9A2 COL9A1
11 11.01 COL9A3 COL9A1
12 10.07 SEMA3A COL9A3 COL9A2 COL9A1 COL2A1 COL11A2

GO Terms for Kniest Dysplasia

Cellular components related to Kniest Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 SEMA3A COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
2 extracellular region GO:0005576 9.97 SEMA3A GALNS COL9A3 COL9A2 COL9A1 COL2A1
3 collagen-containing extracellular matrix GO:0062023 9.8 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4 endoplasmic reticulum lumen GO:0005788 9.73 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5 extracellular matrix GO:0031012 9.43 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6 collagen type XI trimer GO:0005592 9.4 COL11A2 COL11A1
7 collagen type IX trimer GO:0005594 9.33 COL9A3 COL9A2 COL9A1
8 collagen trimer GO:0005581 9.1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

Biological processes related to Kniest Dysplasia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.58 COL9A2 COL2A1 COL11A2
2 sensory perception of sound GO:0007605 9.54 COL2A1 COL11A2 COL11A1
3 roof of mouth development GO:0060021 9.52 COL2A1 COL11A2
4 inner ear morphogenesis GO:0042472 9.51 COL2A1 COL11A1
5 heart morphogenesis GO:0003007 9.49 COL2A1 COL11A1
6 chondrocyte differentiation GO:0002062 9.48 COL2A1 COL11A2
7 tissue homeostasis GO:0001894 9.46 COL2A1 COL11A2
8 cartilage condensation GO:0001502 9.43 COL2A1 COL11A1
9 cartilage development GO:0051216 9.43 COL2A1 COL11A2 COL11A1
10 collagen fibril organization GO:0030199 9.33 COL2A1 COL11A2 COL11A1
11 proteoglycan metabolic process GO:0006029 9.32 COL2A1 COL11A1
12 skeletal system morphogenesis GO:0048705 9.13 COL2A1 COL11A2 COL11A1
13 extracellular matrix organization GO:0030198 9.1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

Molecular functions related to Kniest Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

Sources for Kniest Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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