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KD
MCID: KNS001
MIFTS: 54

Kniest Dysplasia (KD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Kniest Dysplasia

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MalaCards integrated aliases for Kniest Dysplasia:

Name: Kniest Dysplasia 58 12 77 54 26 60 76 38 30 13 56 6 45 15 74
Metatropic Dwarfism, Type Ii 26 74
Kniest Syndrome 26 76
Swiss Cheese Cartilage Dysplasia 26
Metatropic Dysplasia Type Ii 26
Metatropic Dwarfism Type Ii 76
Kniest Chondrodystrophy 26
Dysplasia, Kniest 41
K Deficiency 56
Kd 76
Ks 76

Characteristics:

Orphanet epidemiological data:

60
kniest dysplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
kniest dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

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


Sources

Summaries for Kniest Dysplasia

About this section
NIH Rare Diseases : 54 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.

MalaCards based summary : Kniest Dysplasia, also known as metatropic dwarfism, type ii, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and bone resorption disease, 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 kidney, and related phenotypes are osteoarthritis and scoliosis

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.

Genetics Home Reference : 26 Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.

UniProtKB/Swiss-Prot : 76 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 : 77 Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. ... more...

Description from OMIM: 156550
Sources

Related Diseases for Kniest Dysplasia

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

(show top 50) (show all 314)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 30.5 COL2A1 GALNS
2 bone resorption disease 30.0 BGLAP CTSK
3 osteoarthritis 29.0 ASPN COL2A1 COMP
4 vitamin k deficiency bleeding 12.6
5 kawasaki disease 12.0
6 kaposi sarcoma 11.8
7 hypogonadotropic hypogonadism 11.7
8 kleefstra syndrome 11.7
9 kallmann syndrome 11.6
10 krabbe disease 11.6
11 spinal and bulbar muscular atrophy, x-linked 1 11.4
12 maxillonasal dysplasia, binder type 11.4
13 kniest-like dysplasia, lethal 11.3
14 47, xxy 11.3
15 factor vii deficiency 11.2
16 keutel syndrome 11.2
17 yt blood group antigen 11.1
18 malignant hyperthermia 1 11.1
19 factor x deficiency 11.1
20 congenital disorder of glycosylation, type iil 11.1
21 prothrombin deficiency 11.1
22 protein c deficiency 11.1
23 hypogonadotropic hypogonadism 7 with or without anosmia 11.1
24 hypogonadotropic hypogonadism 2 with or without anosmia 11.1
25 hypogonadotropic hypogonadism 3 with or without anosmia 11.1
26 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
27 hypogonadotropic hypogonadism 4 with or without anosmia 11.1
28 hypogonadotropic hypogonadism 5 with or without anosmia 11.1
29 hypogonadotropic hypogonadism 6 with or without anosmia 11.1
30 hypogonadotropic hypogonadism 8 with or without anosmia 11.1
31 hypogonadotropic hypogonadism 9 with or without anosmia 11.1
32 hypogonadotropic hypogonadism 10 with or without anosmia 11.1
33 hypogonadotropic hypogonadism 11 with or without anosmia 11.1
34 hypogonadotropic hypogonadism 12 with or without anosmia 11.1
35 hypogonadotropic hypogonadism 13 with or without anosmia 11.1
36 hypogonadotropic hypogonadism 14 with or without anosmia 11.1
37 hypogonadotropic hypogonadism 15 with or without anosmia 11.1
38 hypogonadotropic hypogonadism 16 with or without anosmia 11.1
39 hypogonadotropic hypogonadism 17 with or without anosmia 11.1
40 hypogonadotropic hypogonadism 18 with or without anosmia 11.1
41 hypogonadotropic hypogonadism 19 with or without anosmia 11.1
42 hypogonadotropic hypogonadism 20 with or without anosmia 11.1
43 hypogonadotropic hypogonadism 21 with or without anosmia 11.1
44 hypogonadotropic hypogonadism 22 with or without anosmia 11.1
45 kallmann syndrome with spastic paraplegia 10.9
46 human herpesvirus 8 10.3
47 epiphyseal dysplasia, multiple, with myopia and conductive deafness 10.3 COL2A1 LOC105369752
48 spondyloperipheral dysplasia 10.3 COL2A1 LOC105369752
49 osteoarthritis with mild chondrodysplasia 10.3 COL2A1 LOC105369752
50 vitreoretinal dystrophy 10.3 BGLAP COL2A1

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



Diseases related to Kniest Dysplasia
Sources

Symptoms & Phenotypes for Kniest Dysplasia

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Human phenotypes related to Kniest Dysplasia:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
2 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
3 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
4 hyperlordosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003307
5 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
6 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
7 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
8 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
9 disproportionate short-trunk short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003521
10 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
11 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
12 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
13 enlarged thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0100625
14 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
15 rhizomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008905
16 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
17 hypoplastic pelvis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008839
18 dumbbell-shaped long bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0000947
19 flared metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003015
20 flattened, squared-off epiphyses of tubular bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006172
21 vitreoretinopathy 33 hallmark (90%) HP:0007773
22 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
23 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
24 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
25 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
26 round face 60 33 frequent (33%) Frequent (79-30%) HP:0000311
27 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
28 coxa vara 60 33 frequent (33%) Frequent (79-30%) HP:0002812
29 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
30 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
31 glossoptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000162
32 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
33 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
34 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
35 ectopia lentis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001083
36 tracheal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002777
37 tracheomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002779
38 malar flattening 33 HP:0000272
39 short neck 33 HP:0000470
40 joint dislocation 60 Very frequent (99-80%)
41 abnormality of epiphysis morphology 60 Very frequent (99-80%)
42 gait disturbance 33 HP:0001288
43 inguinal hernia 33 HP:0000023
44 umbilical hernia 33 HP:0001537
45 abnormality of the metaphysis 60 Very frequent (99-80%)
46 recurrent otitis media 33 HP:0000403
47 motor delay 33 HP:0001270
48 conductive hearing impairment 33 HP:0000405
49 hip contracture 33 HP:0003273
50 vitreoretinal degeneration 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Spine:
platyspondyly
lumbar kyphoscoliosis
coronal vertebral clefts
occipitoatlantal instability

Head And Neck Eyes:
myopia
retinal detachment
cataracts
prominent eyes

Head And Neck Face:
round face
flat midface

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

Respiratory Airways:
respiratory distress
tracheomalacia

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

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

GenomeRNAi Phenotypes related to Kniest Dysplasia according to GeneCards Suite gene sharing:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.62 BGLAP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.62 GALNS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.62 BGLAP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.62 BGLAP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.62 SEMA3A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.62 BGLAP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.62 BGLAP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.62 BGLAP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.62 BGLAP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.62 BGLAP GALNS SEMA3A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.62 BGLAP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.62 GALNS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.62 GALNS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.62 GALNS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.62 GALNS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.62 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.62 GALNS

MGI Mouse Phenotypes related to Kniest Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 CKM COL2A1 COMP CTSK FMOD GALNS
2 cardiovascular system MP:0005385 9.73 CKM COL2A1 COMP FMOD HSPG2 SEMA3A
3 limbs/digits/tail MP:0005371 9.35 COL2A1 COMP CTSK FMOD HSPG2
4 skeleton MP:0005390 9.17 COL2A1 COMP CTSK FMOD GALNS HSPG2
Sources

Drugs & Therapeutics for Kniest Dysplasia

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Kniest Dysplasia

Cochrane evidence based reviews: kniest dysplasia

Sources

Genetic Tests for Kniest Dysplasia

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Genetic tests related to Kniest Dysplasia:

# Genetic test Affiliating Genes
1 Kniest Dysplasia 30 COL2A1
Sources

Anatomical Context for Kniest Dysplasia

About this section

MalaCards organs/tissues related to Kniest Dysplasia:

42
Bone, Eye, Kidney, Liver, Prostate, T Cells, Myeloid
Sources

Publications for Kniest Dysplasia

About this section

Articles related to Kniest Dysplasia:

(show all 41)
# Title Authors Year
1
Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report. ( 30285969 )
2019
2
Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report. ( 30303846 )
2018
3
Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue? ( 28109507 )
2017
4
Association between Kniest dysplasia and chondrosarcoma in a child. ( 26345137 )
2015
5
Ophthalmic and molecular genetic findings in Kniest dysplasia. ( 25592122 )
2015
6
[Kniest dysplasia due to mutation of COL2A1 gene]. ( 26037341 )
2015
7
Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. ( 23188137 )
2013
8
Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography. ( 21250907 )
2011
9
Fetal MR imaging of Kniest dysplasia. ( 20020120 )
2010
10
Kniest Dysplasia: New Radiographic Features in the Skeleton. ( 27303468 )
2007
11
Kniest dysplasia: MR correlation of histologic and radiographic peculiarities. ( 15338083 )
2005
12
Cataract in Kniest dysplasia: clinicopathologic correlation. ( 15197068 )
2004
13
A case of Kniest dysplasia with retinal detachment and the mutation analysis. ( 14644246 )
2003
14
Undelayed femoral head ossification in Kniest dysplasia. Evolution of hip abnormalities, 30-year follow-up. ( 14649117 )
2003
15
Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features. ( 11297324 )
2001
16
Growth causes difficult tracheal intubation in a patient with Kniest dysplasia. ( 14566532 )
2001
17
Small deletions in the type II collagen triple helix produce kniest dysplasia. ( 10406661 )
1999
18
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. ( 9468540 )
1998
19
Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. ( 9066888 )
1997
20
Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. ( 9269170 )
1997
21
Kniest dysplasia: patient's growth progress and development--evolution of abnormalities, 30 year follow up. ( 9359927 )
1997
22
Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen. ( 8702139 )
1996
23
Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings. ( 8723084 )
1996
24
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. ( 8863156 )
1996
25
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. ( 7700721 )
1994
26
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. ( 7849719 )
1994
27
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. ( 7874117 )
1994
28
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. ( 7977371 )
1994
29
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. ( 7981752 )
1993
30
MR demonstrates cartilaginous megaepiphyses of the hips in Kniest dysplasia of the young child. ( 1523061 )
1992
31
Kniest dysplasia: a probable type II collagen defect. ( 3222213 )
1988
32
Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly. ( 3276736 )
1988
33
Craniofacial and mucopolysaccharide abnormalities in Kniest dysplasia. ( 2931448 )
1985
34
The ocular findings in Kniest dysplasia. ( 4014370 )
1985
35
The ocular findings in Kniest dysplasia. ( 4073190 )
1985
36
A distinct chondrodysplasia resembling Kniest dysplasia: clinical, roentgenographic, histologic, and ultrastructural findings. ( 6358440 )
1983
37
Keratan sulphate excretion in a patient with Kniest dysplasia. ( 6458738 )
1980
38
Kniest dysplasia: neonatal death with necropsy. ( 7446563 )
1980
39
Kniest dysplasia. A histochemical study of the growth plate. ( 514691 )
1979
40
The Kniest syndrome. ( 4214536 )
1974
41
[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]. ( 12995812 )
1952
Sources

Variations for Kniest Dysplasia

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

76
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly303Asp VAR_001741 rs121912877

ClinVar genetic disease variations for Kniest Dysplasia:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.1266+1delG deletion Pathogenic rs587776847 GRCh37 Chromosome 12, 48381051: 48381051
2 COL2A1 NM_001844.4(COL2A1): c.1266+1delG deletion Pathogenic rs587776847 GRCh38 Chromosome 12, 47987268: 47987268
3 COL2A1 COL2A1, IVS24, G-A, +5 single nucleotide variant Pathogenic
4 COL2A1 COL2A1, 28-BP DEL deletion Pathogenic
5 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
6 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
7 COL2A1 COL2A1, IVS20, A-G, -2 single nucleotide variant Pathogenic
8 COL2A1 NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp) single nucleotide variant Pathogenic rs121912877 GRCh37 Chromosome 12, 48387608: 48387608
9 COL2A1 NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp) single nucleotide variant Pathogenic rs121912877 GRCh38 Chromosome 12, 47993825: 47993825
10 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
11 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
12 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
13 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh38 Chromosome 12, 47999953: 47999953
14 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh37 Chromosome 12, 48388220: 48388220
15 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh38 Chromosome 12, 47994437: 47994437
16 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
17 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561
18 COL2A1 NM_001844.4(COL2A1): c.1581+4_1581+7del deletion Uncertain significance GRCh37 Chromosome 12, 48379688: 48379691
19 COL2A1 NM_001844.4(COL2A1): c.1581+4_1581+7del deletion Uncertain significance GRCh38 Chromosome 12, 47985905: 47985908
20 COL2A1 NM_001844.5(COL2A1): c.1122+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 48383010: 48383010
21 COL2A1 NM_001844.5(COL2A1): c.1122+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 47989227: 47989227
Sources

Expression for Kniest Dysplasia

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Search GEO for disease gene expression data for Kniest Dysplasia.
Sources

Pathways for Kniest Dysplasia

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Pathways related to Kniest Dysplasia according to KEGG:

38
# 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:

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 67
Show member pathways
 11.75 ASPN COL2A1 COMP CTSK FMOD HSPG2
2
ECM-receptor interaction 38
Show member pathways
 11.62 COL2A1 COMP HSPG2
3
ECM proteoglycans 67
11.09 ASPN COMP FMOD
4
Regulation of retinoblastoma protein 1
11.07 BGLAP CKM
5
Articular Cartilage Extracellular Matrix Pathway 66
10.69 COL2A1 COMP FMOD
Sources

GO Terms for Kniest Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 BGLAP CKM COL2A1 COMP CTSK FMOD
2 extracellular matrix GO:0031012 9.62 ASPN COL2A1 COMP FMOD
3 collagen-containing extracellular matrix GO:0062023 9.55 ASPN COL2A1 COMP FMOD HSPG2
4 Golgi lumen GO:0005796 9.54 BGLAP FMOD HSPG2
5 extracellular region GO:0005576 9.28 ASPN BGLAP COL2A1 COMP CTSK FMOD
6 lysosomal lumen GO:0043202 9.26 CTSK FMOD GALNS HSPG2

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

# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.4 BGLAP COL2A1
2 collagen fibril organization GO:0030199 9.37 COL2A1 FMOD
3 extracellular matrix organization GO:0030198 9.33 COL2A1 COMP HSPG2
4 bone mineralization GO:0030282 9.32 ASPN BGLAP
5 biomineral tissue development GO:0031214 9.26 ASPN BGLAP
6 skeletal system development GO:0001501 9.13 BGLAP COL2A1 COMP
7 keratan sulfate catabolic process GO:0042340 8.62 FMOD GALNS

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 ASPN BGLAP COMP HSPG2
2 collagen binding GO:0005518 9.13 ASPN COMP CTSK
3 fibronectin binding GO:0001968 8.85 CTSK
4 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.8 ASPN FMOD HSPG2
Sources

Sources for Kniest Dysplasia

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