MCID: KNS001
MIFTS: 53

Kniest Dysplasia

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

Aliases & Classifications for Kniest Dysplasia

MalaCards integrated aliases for Kniest Dysplasia:

Name: Kniest Dysplasia 53 12 72 72 49 24 55 71 28 13 51 14 69
Metatropic Dwarfism, Type Ii 24 69
Kniest Syndrome 24 71
Swiss Cheese Cartilage Dysplasia 24
Metatropic Dysplasia Type Ii 24
Metatropic Dwarfism Type Ii 71
Kniest Chondrodystrophy 24
Kd 71
Ks 71

Characteristics:

Orphanet epidemiological data:

55
kniest dysplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
kniest dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Kniest Dysplasia

NIH Rare Diseases : 49 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. Last updated: 5/20/2013

MalaCards based summary : Kniest Dysplasia, also known as metatropic dwarfism, type ii, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and kawasaki 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone and eye, and related phenotypes are cardiovascular system and cellular

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.

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.

Description from OMIM: 156550

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 108)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 30.3 COL2A1 GALNS
2 kawasaki disease 11.9
3 kaposi sarcoma 11.6
4 hypogonadotropic hypogonadism 11.5
5 kleefstra syndrome 11.5
6 kallmann syndrome 11.4
7 spinal and bulbar muscular atrophy, x-linked 1 11.2
8 kniest-like dysplasia, lethal 11.1
9 dyssegmental dysplasia with glaucoma 11.1
10 keutel syndrome 11.0
11 kindler syndrome 11.0
12 yt blood group antigen 10.9
13 malignant hyperthermia 1 10.9
14 hypogonadotropic hypogonadism 7 with or without anosmia 10.9
15 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
16 hypogonadotropic hypogonadism 3 with or without anosmia 10.9
17 hypogonadotropic hypogonadism 1 with or without anosmia 10.9
18 hypogonadotropic hypogonadism 4 with or without anosmia 10.9
19 hypogonadotropic hypogonadism 5 with or without anosmia 10.9
20 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
21 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
22 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
23 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
24 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
25 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
26 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
27 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
36 kallmann syndrome with spastic paraplegia 10.7
37 spondyloepimetaphyseal dysplasia, strudwick type 10.4 COL2A1 SEMA3A
38 sarcoma 10.3
39 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.3 COL2A1 SEMA3A
40 marshall syndrome 10.3 COL11A1 COL2A1
41 retinal perforation 10.3 COL11A1 COL2A1
42 otospondylomegaepiphyseal dysplasia 10.3 COL11A1 COL2A1
43 vitreous syneresis 10.3 COL11A1 COL2A1
44 blood group, i system 10.2
45 vitreoretinal degeneration 10.2 COL11A1 COL2A1
46 macroglossia 10.2 COL11A1 COL2A1
47 familial avascular necrosis of the femoral head 10.2 COL2A1 TRPV4
48 morquio syndrome 10.1 GALNS TRPV4
49 stickler syndrome 10.1 COL11A1 COL2A1
50 vitreoretinal dystrophy 10.0 ADAMTS18 COL11A1 COL2A1

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



Diseases related to Kniest Dysplasia

Symptoms & Phenotypes for Kniest Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Respiratory Airways:
respiratory distress
tracheomalacia

Head And Neck Mouth:
cleft palate

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 Neck:
short neck

Skeletal Spine:
platyspondyly
lumbar kyphoscoliosis
coronal vertebral clefts
occipitoatlantal instability

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

Human phenotypes related to Kniest Dysplasia:

55 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 respiratory distress 55 31 occasional (7.5%) Occasional (29-5%) HP:0002098
3 osteoarthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002758
4 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
5 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
6 kyphosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002808
7 hyperlordosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003307
8 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
9 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
10 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
11 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
12 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
13 glossoptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000162
14 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
15 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
16 disproportionate short-trunk short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003521
17 platyspondyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000926
18 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
19 short thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0010306
20 enlarged thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0100625
21 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
22 hip dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0002827
23 rhizomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008905
24 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
25 retinal detachment 55 31 frequent (33%) Frequent (79-30%) HP:0000541
26 ectopia lentis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001083
27 round face 55 31 frequent (33%) Frequent (79-30%) HP:0000311
28 tracheal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002777
29 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
30 hypoplastic pelvis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008839
31 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
32 tracheomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002779
33 coxa vara 55 31 frequent (33%) Frequent (79-30%) HP:0002812
34 vitreoretinal degeneration 55 31 hallmark (90%) Very frequent (99-80%) HP:0000655
35 dumbbell-shaped long bone 55 31 hallmark (90%) Very frequent (99-80%) HP:0000947
36 flared metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003015
37 flattened, squared-off epiphyses of tubular bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0006172
38 malar flattening 31 HP:0000272
39 short neck 31 HP:0000470
40 joint dislocation 55 Very frequent (99-80%)
41 abnormality of epiphysis morphology 55 Very frequent (99-80%)
42 gait disturbance 31 HP:0001288
43 inguinal hernia 31 HP:0000023
44 umbilical hernia 31 HP:0001537
45 abnormality of the metaphysis 55 Very frequent (99-80%)
46 recurrent otitis media 31 HP:0000403
47 conductive hearing impairment 31 HP:0000405
48 hip contracture 31 HP:0003273
49 motor delay 31 HP:0001270
50 lumbar kyphoscoliosis 31 HP:0004619

UMLS symptoms related to Kniest Dysplasia:


respiratory distress, arthralgia

MGI Mouse Phenotypes related to Kniest Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 CKM COL2A1 COMP FMOD HSPG2 SEMA3A
2 cellular MP:0005384 9.95 CKM COL2A1 COMP FMOD GALNS HSPG2
3 limbs/digits/tail MP:0005371 9.8 COMP FMOD HSPG2 ASPN COL11A1 COL2A1
4 hearing/vestibular/ear MP:0005377 9.67 COL11A1 COL2A1 HSPG2 TRPV4
5 muscle MP:0005369 9.65 COMP FMOD HSPG2 TRPV4 CKM
6 respiratory system MP:0005388 9.55 COL11A1 COL2A1 HSPG2 SEMA3A TRPV4
7 skeleton MP:0005390 9.5 COL11A1 COL2A1 COMP FMOD GALNS HSPG2
8 vision/eye MP:0005391 9.1 ADAMTS18 COL2A1 FMOD GALNS HSPG2 TRPV4

Drugs & Therapeutics for Kniest Dysplasia

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

Genetic Tests for Kniest Dysplasia

Genetic tests related to Kniest Dysplasia:

# Genetic test Affiliating Genes
1 Kniest Dysplasia 28 COL2A1

Anatomical Context for Kniest Dysplasia

MalaCards organs/tissues related to Kniest Dysplasia:

38
Bone, Eye

Publications for Kniest Dysplasia

Articles related to Kniest Dysplasia:

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

Variations for Kniest Dysplasia

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

71
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly303Asp VAR_001741 rs121912877

ClinVar genetic disease variations for Kniest Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 COL2A1, 28-BP DEL deletion Pathogenic
2 COL2A1 COL2A1, IVS20, A-G, -2 single nucleotide variant Pathogenic
3 COL2A1 NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp) single nucleotide variant Pathogenic rs121912877 GRCh37 Chromosome 12, 48387608: 48387608
4 COL2A1 NM_001844.4(COL2A1): c.1266+1delG deletion Pathogenic rs587776847 GRCh37 Chromosome 12, 48381051: 48381051
5 COL2A1 COL2A1, IVS24, G-A, +5 single nucleotide variant Pathogenic
6 COL2A1 NM_001844.4(COL2A1): c.1023+1G> A single nucleotide variant Pathogenic rs886043794 GRCh37 Chromosome 12, 48386660: 48386660

Expression for Kniest Dysplasia

Search GEO for disease gene expression data for Kniest Dysplasia.

Pathways for Kniest Dysplasia

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 region GO:0005576 9.81 ADAMTS18 ASPN COL11A1 COL2A1 COMP FMOD
2 extracellular space GO:0005615 9.8 COL11A1 COL2A1 COMP FMOD HSPG2 SEMA3A
3 lysosomal lumen GO:0043202 9.43 FMOD GALNS HSPG2
4 extracellular matrix GO:0031012 9.43 ASPN COL11A1 COL2A1 COMP FMOD HSPG2
5 proteinaceous extracellular matrix GO:0005578 9.17 ADAMTS18 ASPN COL11A1 COL2A1 COMP FMOD

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 9.46 SEMA3A TRPV4
2 heart morphogenesis GO:0003007 9.43 COL11A1 COL2A1
3 skeletal system morphogenesis GO:0048705 9.4 COL11A1 COL2A1
4 cartilage condensation GO:0001502 9.37 COL11A1 COL2A1
5 keratan sulfate catabolic process GO:0042340 9.32 FMOD GALNS
6 proteoglycan metabolic process GO:0006029 9.26 COL11A1 COL2A1
7 extracellular matrix organization GO:0030198 9.26 COL11A1 COL2A1 COMP HSPG2
8 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 COL2A1 TRPV4
9 collagen fibril organization GO:0030199 8.8 COL11A1 COL2A1 FMOD

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.96 ASPN COMP
2 extracellular matrix structural constituent GO:0005201 8.8 COL11A1 COL2A1 COMP

Sources for Kniest Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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