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 54 12 72 50 24 25 56 71 29 13 52 14 69
Metatropic Dwarfism, Type Ii 25 69
Kniest Syndrome 25 71
Swiss Cheese Cartilage Dysplasia 25
Metatropic Dysplasia Type Ii 25
Metatropic Dwarfism Type Ii 71
Kniest Chondrodystrophy 25
Kd 71
Ks 71

Characteristics:

Orphanet epidemiological data:

56
kniest dysplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
kniest dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Kniest Dysplasia

NIH Rare Diseases : 50 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 abl1 kd-related altered drug metabolism and kawasaki disease, and has symptoms including scoliosis, myopia and vitreoretinal degeneration. 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 limbs/digits/tail

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 : 25 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.

Wikipedia : 72 Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12.... more...

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 97)
id Related Disease Score Top Affiliating Genes
1 abl1 kd-related altered drug metabolism 11.8
2 kawasaki disease 11.7
3 kaposi sarcoma 11.5
4 kleefstra syndrome 11.4
5 kallmann syndrome 11.3
6 krabbe disease 11.3
7 spinal and bulbar muscular atrophy of kennedy 10.9
8 dyssegmental dysplasia with glaucoma 10.9
9 kniest-like dysplasia, lethal 10.9
10 hypogonadotropic hypogonadism 10.9
11 keutel syndrome 10.9
12 kindler syndrome 10.8
13 malignant hyperthermia susceptibility 1 10.8
14 hypogonadotropic hypogonadism 20 with or without anosmia 10.8
15 hypogonadotropic hypogonadism 12 with or without anosmia 10.8
16 hypogonadotropic hypogonadism 2 with or without anosmia 10.8
17 hypogonadotropic hypogonadism 3 with or without anosmia 10.8
18 hypogonadotropic hypogonadism 5 with or without anosmia 10.8
19 hypogonadotropic hypogonadism 21 with anosmia 10.8
20 hypogonadotropic hypogonadism 1 with or without anosmia 10.8
21 hypogonadotropic hypogonadism 13 with or without anosmia 10.8
22 hypogonadotropic hypogonadism 15 with or without anosmia 10.8
23 hypogonadotropic hypogonadism 9 with or without anosmia 10.8
24 hypogonadotropic hypogonadism 6 with or without anosmia 10.8
25 hypogonadotropic hypogonadism 4 with or without anosmia 10.8
26 hypogonadotropic hypogonadism 14 with or without anosmia 10.8
27 hypogonadotropic hypogonadism 18 with or without anosmia 10.8
28 hypogonadotropic hypogonadism 7 without anosmia 10.8
29 hypogonadotropic hypogonadism 11 with or without anosmia 10.8
30 hypogonadotropic hypogonadism 10 with or without anosmia 10.8
31 hypogonadotropic hypogonadism 17 with or without anosmia 10.8
32 hypogonadotropic hypogonadism 19 with or without anosmia 10.8
33 hypogonadotropic hypogonadism 16 with or without anosmia 10.8
34 hypogonadotropic hypogonadism 8 with or without anosmia 10.8
35 hypogonadotropic hypogonadism 22, with or without anosmia 10.8
36 epiphyseal dysplasia, multiple, with myopia and deafness 10.6 COL2A1 SEMA3A
37 marshall syndrome 10.5 COL11A1 COL2A1
38 craniodiaphyseal dysplasia 10.5 COL11A1 COL2A1
39 plantar nerve lesion 10.5 COL11A1 COL2A1
40 moyamoya disease 10.5 COL11A1 COL2A1
41 ureter cancer 10.4 COL11A1 COL2A1
42 wagner syndrome 10.4 COL11A1 COL2A1
43 familial caudal dysgenesis 10.4 COL2A1 TRPV4
44 laryngomalacia 10.3 COL11A1 COL2A1
45 myopathy with extrapyramidal signs 10.3 COL2A1 GALNS
46 sarcoma 10.2
47 cerebral hemorrhage 10.2 COL2A1 COMP
48 legg-calve-perthes disease 10.2 COL2A1 TRPV4
49 adult-onset still's disease 10.2 ADAMTS18 COL11A1 COL2A1
50 malignant pleural solitary fibrous tumor 10.1 COL2A1 GALNS TRPV4

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:

54

Head And Neck- Eyes:
myopia
retinal detachment
cataracts
prominent eyes

Skeletal- Spine:
platyspondyly
coronal vertebral clefts
lumbar kyphoscoliosis
occipitoatlantal instability

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

Head And Neck- Neck:
short neck

Head And Neck- Nose:
low nasal bridge

Skeletal- Limbs:
enlarged joints
short, dumbbell appearance of long bones
splayed epiphyses and metaphyses
delayed epiphyseal ossification (early)
megaepiphyses (late)
more
Skeletal- Hands:
flattened, squared-off epiphyses of tubular bones

Head And Neck- Face:
round face
flat midface

Head And Neck- Mouth:
cleft palate

Respiratory- Airways:
respiratory distress
tracheomalacia

Head And Neck- Ears:
conductive hearing loss
frequent otitis media

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

Abdomen- External Features:
inguinal hernias
umbilical hernias

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


Clinical features from OMIM:

156550

Human phenotypes related to Kniest Dysplasia:

56 32 (show top 50) (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 myopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000545
3 vitreoretinal degeneration 56 32 hallmark (90%) Very frequent (99-80%) HP:0000655
4 retinal detachment 56 32 frequent (33%) Frequent (79-30%) HP:0000541
5 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
7 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
8 round face 56 32 frequent (33%) Frequent (79-30%) HP:0000311
9 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
10 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000926
11 kyphosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002808
12 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
13 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
14 hip dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0002827
15 respiratory distress 56 32 occasional (7.5%) Occasional (29-5%) HP:0002098
16 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
17 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
18 midface retrusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0011800
19 osteoarthritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002758
20 tracheomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002779
21 coxa vara 56 32 frequent (33%) Frequent (79-30%) HP:0002812
22 hyperlordosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003307
23 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
24 rhizomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008905
25 ectopia lentis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001083
26 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
27 retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000488
28 tracheal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002777
29 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
30 glossoptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000162
31 flattened, squared-off epiphyses of tubular bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0006172
32 short thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0010306
33 hypoplastic pelvis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008839
34 disproportionate short-trunk short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003521
35 enlarged thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0100625
36 dumbbell-shaped long bone 56 32 hallmark (90%) Very frequent (99-80%) HP:0000947
37 flared metaphysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003015
38 umbilical hernia 32 HP:0001537
39 short neck 32 HP:0000470
40 inguinal hernia 32 HP:0000023
41 motor delay 32 HP:0001270
42 malar flattening 32 HP:0000272
43 recurrent otitis media 32 HP:0000403
44 gait disturbance 32 HP:0001288
45 enlarged joints 32 HP:0003037
46 joint dislocation 56 Very frequent (99-80%)
47 coronal cleft vertebrae 32 HP:0003417
48 lumbar kyphoscoliosis 32 HP:0004619
49 delayed epiphyseal ossification 32 HP:0002663
50 abnormality of epiphysis morphology 56 Very frequent (99-80%)

UMLS symptoms related to Kniest Dysplasia:


arthralgia, respiratory distress

MGI Mouse Phenotypes related to Kniest Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 FMOD HSPG2 SEMA3A TRPV4 CKM COL2A1
2 limbs/digits/tail MP:0005371 9.8 ASPN COL11A1 COL2A1 COMP FMOD HSPG2
3 hearing/vestibular/ear MP:0005377 9.67 COL11A1 COL2A1 HSPG2 TRPV4
4 muscle MP:0005369 9.65 CKM COMP FMOD HSPG2 TRPV4
5 respiratory system MP:0005388 9.55 COL11A1 COL2A1 HSPG2 SEMA3A TRPV4
6 skeleton MP:0005390 9.5 COL11A1 COL2A1 COMP FMOD GALNS HSPG2
7 vision/eye MP:0005391 9.1 ADAMTS18 COL2A1 FMOD GALNS HSPG2 TRPV4

Drugs & Therapeutics for Kniest Dysplasia

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Kniest Dysplasia 29 24 COL2A1

Anatomical Context for Kniest Dysplasia

MalaCards organs/tissues related to Kniest Dysplasia:

39
Bone, Eye

Publications for Kniest Dysplasia

Articles related to Kniest Dysplasia:

(show all 36)
id 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
Ophthalmic and molecular genetic findings in Kniest dysplasia. ( 25592122 )
2015
4
Association between kniest dysplasia and chondrosarcoma in a child. ( 26345137 )
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
A case of Kniest dysplasia with retinal detachment and the mutation analysis. ( 14644246 )
2003
12
Undelayed femoral head ossification in Kniest dysplasia. Evolution of hip abnormalities, 30-year follow-up. ( 14649117 )
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
Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. ( 9269170 )
1997
19
Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. ( 9066888 )
1997
20
Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings. ( 8723084 )
1996
21
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
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
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. ( 7700721 )
1994
25
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. ( 7874117 )
1994
26
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. ( 7849719 )
1994
27
MR demonstrates cartilaginous megaepiphyses of the hips in Kniest dysplasia of the young child. ( 1523061 )
1992
28
Kniest dysplasia: a probable type II collagen defect. ( 3222213 )
1988
29
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
30
Craniofacial and mucopolysaccharide abnormalities in Kniest dysplasia. ( 2931448 )
1985
31
The ocular findings in Kniest dysplasia. ( 4073190 )
1985
32
The ocular findings in Kniest dysplasia. ( 4014370 )
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
id Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly303Asp VAR_001741 rs121912877

ClinVar genetic disease variations for Kniest Dysplasia:

6
id 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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 COL11A1 COL2A1 HSPG2 SEMA3A
2
Show member pathways
11.82 ADAMTS18 ASPN COL11A1 COL2A1 COMP FMOD
3
Show member pathways
11.67 COL2A1 COMP HSPG2
4
Show member pathways
11.6 ADAMTS18 FMOD HSPG2
5 11.09 ASPN COMP FMOD
6 10.71 COL2A1 COMP FMOD

GO Terms for Kniest Dysplasia

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

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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