MCID: KHL001
MIFTS: 38

Kohler's Disease

Categories: Bone diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Kohler's Disease

MalaCards integrated aliases for Kohler's Disease:

Name: Kohler's Disease 11 19 14
Kohler Disease 11 19 58 75 71
Aseptic Necrosis of the Tarsal Bone 19 58
Osteochondrosis of the Tarsal Bone 19 58
Obsolete: Osteochondritis of Tarsal/metatarsal Bone 19
Kohler's Osteochondrosis of the Tarsal Navicular 19
Osteochondritis of Tarsal/metatarsal Bone 19
Kohler's Disease of the Tarsal Navicular 19
Avascular Necrosis of the Tarsal Bone 58
Juvenile Osteochondrosis of Foot 11
Navicular Osteochondrosis 19
Larsen-Johansson Syndrome 71

Characteristics:


Age Of Onset:

Osteochondrosis of the Tarsal Bone: Adolescent,Childhood 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases


External Ids:

Disease Ontology 11 DOID:11760
ICD9CM 34 732.5
SNOMED-CT 68 32491009
Orphanet 58 ORPHA563991
UMLS 71 C0022765 C0158444 C0264096

Summaries for Kohler's Disease

GARD: 19 Kohler disease is a condition that affects a bone at the arch of the foot called the tarsal navicular bone. X-rays show that this bone is initially compressed and later breaks into pieces before healing and hardening back into bone. Signs and symptoms of the condition include swelling, redness and/or tenderness of the affected foot which can lead to a limp or abnormal gait (style of walking). Although the exact underlying cause of Kohler disease is unknown, some scientists suspect that it may be caused by excessive strain on the tarsal navicular bone and its associated blood vessels before the bone is completely ossified (hardened).

MalaCards based summary: Kohler's Disease, also known as kohler disease, is related to osteochondrosis and avascular necrosis. An important gene associated with Kohler's Disease is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Extracellular matrix organization and MET promotes cell motility. Affiliated tissues include navicular bone of foot and bone, and related phenotypes are pedal edema and chondritis

Orphanet: 58 A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.

Disease Ontology: 11 An osteochondrosis that results in death and collapse located in navicular bone of foot.

Wikipedia: 75 Köhler disease (also spelled "Kohler" and referred to in some texts as Kohler disease I) is a rare bone... more...

Related Diseases for Kohler's Disease

Diseases related to Kohler's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 29.9 PTH COL2A1
2 avascular necrosis 10.2
3 fibrochondrogenesis 2 10.1 COL11A2 COL11A1
4 cleft soft palate 10.1 COL11A2 COL11A1
5 caffey disease 10.1 COL11A2 COL11A1
6 diffuse idiopathic skeletal hyperostosis 10.1 PTH COL11A2
7 basal ganglia disease 10.1 PTH GYPE
8 heart, malformation of 10.1 COL2A1 COL11A2
9 radioulnar synostosis 10.0 RBM8A POR
10 myeloma, multiple 10.0
11 macroglossia 10.0 COL2A1 COL11A1
12 metaphyseal dysplasia 10.0 PTH COL2A1
13 vitreous disease 10.0 COL2A1 COL11A1
14 campomelic dysplasia 9.9 COL2A1 COL11A2
15 enchondromatosis, multiple, ollier type 9.9 PTH COL2A1
16 tetanic cataract 9.9 PTH CALCA
17 malignant ovarian brenner tumor 9.9 PTH CALCA
18 mccune-albright syndrome 9.9 PTH COL2A1
19 substernal goiter 9.9 PTH CALCA
20 isthmus cancer 9.9 PTH CALCA
21 hypervitaminosis d 9.9 PTH CALCA
22 hypercalcemia, infantile, 1 9.9 PTH CALCA
23 gorham's disease 9.9 PTH CALCA
24 endemic goiter 9.9 PTH CALCA
25 plummer's disease 9.9 PTH CALCA
26 nontoxic goiter 9.9 PTH CALCA
27 bursitis 9.9 PTH CALCA
28 osteitis fibrosa 9.9 PTH CALCA
29 giant cell reparative granuloma 9.9 PTH CALCA
30 glucocorticoid-induced osteoporosis 9.9 PTH CALCA
31 tooth resorption 9.8 PTH CALCA
32 graves disease 1 9.8 PTH CALCA
33 spondyloperipheral dysplasia 9.8 COL2A1 COL11A2 COL11A1
34 hypochondrogenesis 9.8 COL2A1 COL11A2 COL11A1
35 fibrochondrogenesis 1 9.8 COL2A1 COL11A2 COL11A1
36 nerve compression syndrome 9.8 PTH CALCA
37 fibrochondrogenesis 9.8 COL2A1 COL11A2 COL11A1
38 vitreous syneresis 9.8 COL2A1 COL11A2 COL11A1
39 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.8 COL2A1 COL11A2 COL11A1
40 achondrogenesis, type ii 9.8 COL2A1 COL11A2 COL11A1
41 achondrogenesis 9.8 COL2A1 COL11A2 COL11A1
42 familial hypocalciuric hypercalcemia 9.8 PTH CALCA
43 retinal perforation 9.8 COL2A1 COL11A2 COL11A1
44 kniest dysplasia 9.8 COL2A1 COL11A2 COL11A1
45 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.8 COL2A1 COL11A2 COL11A1
46 marshall syndrome 9.8 COL2A1 COL11A2 COL11A1
47 spondyloepiphyseal dysplasia congenita 9.8 COL2A1 COL11A2 COL11A1
48 bone benign neoplasm 9.8 PTH CALCA
49 spondyloepimetaphyseal dysplasia, strudwick type 9.8 COL2A1 COL11A2 COL11A1
50 multiple epiphyseal dysplasia 9.8 COL2A1 COL11A2 COL11A1

Graphical network of the top 20 diseases related to Kohler's Disease:



Diseases related to Kohler's Disease

Symptoms & Phenotypes for Kohler's Disease

Human phenotypes related to Kohler's Disease:

58 30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pedal edema 58 30 Frequent (33%) Frequent (79-30%)
HP:0010741
2 chondritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100662
3 foot pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0025238
4 flattening of the talar dome 58 30 Frequent (33%) Frequent (79-30%)
HP:0008144
5 antalgic gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0031955
6 tarsal stippling 58 30 Frequent (33%) Frequent (79-30%)
HP:0008131
7 ankle pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0030840
8 arthritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001369
9 osteochondritis dissecans 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010886
10 avascular necrosis 58 Occasional (29-5%)
11 tarsal sclerosis 58 Frequent (79-30%)
12 abnormal tarsal ossification 58 Frequent (79-30%)
13 juvenile aseptic necrosis 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Kohler's Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 CALCA COL11A1 COL11A2 POR RBM8A

MGI Mouse Phenotypes related to Kohler's Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.46 CALCA COL11A1 COL11A2 COL2A1
2 craniofacial MP:0005382 9.35 COL11A1 COL11A2 COL2A1 POR PTH
3 cardiovascular system MP:0005385 9.1 CALCA COL11A1 COL11A2 COL2A1 POR PTH

Drugs & Therapeutics for Kohler's Disease

Search Clinical Trials, NIH Clinical Center for Kohler's Disease

Genetic Tests for Kohler's Disease

Anatomical Context for Kohler's Disease

Organs/tissues related to Kohler's Disease:

FMA: Navicular Bone Of Foot
MalaCards : Bone

Publications for Kohler's Disease

Articles related to Kohler's Disease:

(show all 33)
# Title Authors PMID Year
1
Osteochondrosis of Primary Center of Patella: A Case Report. 62
34557450 2021
2
Aseptic (avascular) bone necrosis in the foot and ankle. 62
33204511 2020
3
External Fixation Diastasis Management of Kohler's Disease in a 14-Year-Old Boy: A Case Report. 62
32730605 2020
4
Joint debridement and microfracture for treatment late-stage Freiberg-Kohler's disease: Long-term follow-up study. 62
30321965 2019
5
Osteochondrosis of the tarsal navicular and medial cuneiform in a child. 62
30949007 2018
6
Kohler disease: Imaging King Tut's foot in 21st century. 62
29885195 2018
7
Kohler's disease presenting as acute foot injury. 62
28801039 2017
8
Kohler's disease: an unusual cause for a limping child. 62
27474766 2017
9
Imaging of tarsal navicular disorders: a pictorial review. 62
24686907 2014
10
Complete spontaneous avascular necrosis of the adult navicula associated with Mee's growth arrest lines of the great and second toenails. 62
24480511 2014
11
Recognition and management of Müller-Weiss disease. 62
22735199 2012
12
Kohler's disease of the patella. 62
22764673 2012
13
Kohler's Disease. 62
22461942 2012
14
Osteochondroses and apophyseal injuries of the foot in the young athlete. 62
20827090 2010
15
["Minor foot curses": Kohler's disease II]. 62
19391411 2009
16
Kohler's disease. 62
18813432 2008
17
Osteonecrosis in the foot. 62
17426292 2007
18
Kohler disease: diagnoses and assessment by bone scintigraphy. 62
17314590 2007
19
Osteochondritis of the navicular: a case report. 62
12854674 2003
20
Bone imaging in Kohler's disease. 62
9298302 1997
21
Evaluation of pediatric foot problems: Part I. The forefoot and the midfoot. 62
8701839 1996
22
Kohler's osteochondrosis of the tarsal navicular: case report with twenty-eight year follow up. 62
2799378 1989
23
[Frieberg-Kohler disease. Long-term review of the surgical treatment in 20 cases]. 62
4017151 1985
24
Kohler's Disease. 62
24823137 1983
25
Kohler's disease of the tarsal scaphoid. 62
755472 1978
26
[Histological picture of the second Kohler disease (ultrastructural findings)]. 62
931606 1977
27
[Considerations on Kohler's disease of the second metatarsal bone]. 62
5610495 1967
28
[KOHLER'S DISEASE AND PANNER'S DISEASE]. 62
14295165 1965
29
Osteochondrosis of the tarsal scaphoid (Kohler's disease). 62
13767239 1960
30
Kohler's disease. 62
13591073 1958
31
Kohler's disease of the tarsal navicular. 62
13118343 1953
32
[Plasma cell myeloma or Kohler's disease]. 62
14957717 1952
33
Two Cases of Kohler's Disease. 62
19983291 1923

Variations for Kohler's Disease

Expression for Kohler's Disease

Search GEO for disease gene expression data for Kohler's Disease.

Pathways for Kohler's Disease

GO Terms for Kohler's Disease

Cellular components related to Kohler's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 9.35 COL2A1 COL11A2 COL11A1
2 collagen type XI trimer GO:0005592 9.1 COL2A1 COL11A2 COL11A1

Biological processes related to Kohler's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.95 COL2A1 COL11A2 COL11A1
2 sensory perception of sound GO:0007605 9.93 COL2A1 COL11A2 COL11A1
3 skeletal system development GO:0001501 9.85 COL11A2 COL2A1 PTH
4 ossification GO:0001503 9.72 COL2A1 COL11A1 CALCA
5 cartilage condensation GO:0001502 9.71 COL2A1 COL11A1
6 tissue homeostasis GO:0001894 9.61 COL2A1 COL11A2
7 proteoglycan metabolic process GO:0006029 9.56 COL2A1 COL11A1
8 cartilage development GO:0051216 9.55 COL2A1 COL11A2 COL11A1
9 collagen fibril organization GO:0030199 9.43 COL2A1 COL11A2 COL11A1
10 skeletal system morphogenesis GO:0048705 8.8 COL2A1 COL11A2 COL11A1

Molecular functions related to Kohler's Disease according to GeneCards Suite gene sharing:

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

Sources for Kohler's Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....