MCID: KHL001
MIFTS: 30

Kohler's Disease

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Kohler's Disease

MalaCards integrated aliases for Kohler's Disease:

Name: Kohler's Disease 12 52 15
Kohler Disease 12 74 52 58 71
Aseptic Necrosis of the Tarsal Bone 52 58
Osteochondrosis of the Tarsal Bone 52 58
Obsolete: Osteochondritis of Tarsal/metatarsal Bone 52
Kohler's Osteochondrosis of the Tarsal Navicular 52
Osteochondritis of Tarsal/metatarsal Bone 52
Kohler's Disease of the Tarsal Navicular 52
Avascular Necrosis of the Tarsal Bone 58
Juvenile Osteochondrosis of Foot 12
Navicular Osteochondrosis 52
Larsen-Johansson Syndrome 71

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:11760
ICD9CM 34 732.5
SNOMED-CT 67 203392007
Orphanet 58 ORPHA563991
UMLS 71 C0022765 C0158444 C0264096

Summaries for Kohler's Disease

NIH Rare Diseases : 52 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. It occurs most frequently in children between the ages of 5 and 10 years. 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). The condition typically resolves on its own with or without treatment; however, pain relievers, rest, avoidance of weight-bearing activities, and/or casting may be recommended to help manage symptoms.

MalaCards based summary : Kohler's Disease, also known as kohler disease, is related to osteochondrosis and achilles bursitis. An important gene associated with Kohler's Disease is PDLIM2 (PDZ And LIM Domain 2), and among its related pathways/superpathways is G-protein signaling_Rap2B regulation pathway. Affiliated tissues include navicular bone of foot and bone, and related phenotypes are craniofacial and hearing/vestibular/ear

Disease Ontology : 12 An osteochondrosis that results in death and collapse located in navicular bone of foot.

Wikipedia : 74 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 76)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 30.1 PES1 HECTD4 COL2A1
2 achilles bursitis 10.3 PES1 HECTD4
3 de quervain disease 10.3 PES1 HECTD4
4 tarsal tunnel syndrome 10.3 PES1 HECTD4
5 tibial neuropathy 10.3 PES1 HECTD4
6 osgood-schlatter's disease 10.3 PES1 HECTD4
7 patellofemoral pain syndrome 10.3 PES1 HECTD4
8 patellar tendinitis 10.3 PES1 HECTD4
9 calcific tendinitis 10.3 PES1 HECTD4
10 synostoses, tarsal, carpal, and digital 10.3 PES1 HECTD4
11 spastic hemiplegia 10.3 PES1 HECTD4
12 tinea pedis 10.3 PES1 HECTD4
13 epicondylitis 10.3 PES1 HECTD4
14 lumbosacral lipoma 10.2 PES1 HECTD4
15 fibrochondrogenesis 1 10.2 COL11A2 COL11A1
16 ichthyosis, congenital, autosomal recessive 9 10.2 PES1 HECTD4
17 mononeuropathy 10.2 PES1 HECTD4
18 nerve compression syndrome 10.2 PES1 HECTD4
19 spastic diplegia 10.2 PES1 HECTD4
20 palmoplantar keratoderma, punctate type iii 10.2 MRAP HECTD4
21 olecranon bursitis 10.2 PES1 MRAP
22 avascular necrosis 10.2
23 scheuermann disease 10.1 PES1 COL2A1
24 spastic cerebral palsy 10.1 PES1 HECTD4
25 chondromalacia 10.1 PES1 MRAP
26 cauda equina syndrome 10.1 MRAP HECTD4
27 vitreoretinal degeneration 10.1 COL2A1 COL11A1
28 enthesopathy 10.1 MRAP HECTD4
29 macroglossia 10.1 COL2A1 COL11A1
30 achondrogenesis, type ii 10.1 COL2A1 COL11A2
31 periostitis 10.1 MRAP HECTD4
32 spondyloepiphyseal dysplasia congenita 10.0 COL2A1 COL11A2
33 radioulnar synostosis 10.0 POR PES1
34 chronic recurrent multifocal osteomyelitis 10.0 MRAP HECTD4
35 caffey disease 10.0 COL2A1 COL11A2
36 esotropia 10.0 PES1 COL11A1
37 peroneal nerve paralysis 10.0 PES1 HECTD4 COL2A1
38 heel spur 10.0 PES1 MRAP HECTD4
39 plantar fasciitis 10.0 PES1 MRAP HECTD4
40 tenosynovitis 9.9 PES1 MRAP HECTD4
41 bursitis 9.9 PES1 MRAP HECTD4
42 tendinitis 9.9 PES1 MRAP HECTD4
43 ischemic bone disease 9.9 PES1 HECTD4 COL2A1
44 bone structure disease 9.9 PES1 HECTD4 COL2A1
45 bone development disease 9.9 PES1 COL2A1 COL11A2
46 intervertebral disc disease 9.9 COL11A2 COL11A1
47 clubfoot 9.9 PES1 HECTD4 COL2A1
48 vitreous syneresis 9.9 COL2A1 COL11A2 COL11A1
49 kniest dysplasia 9.9 COL2A1 COL11A2 COL11A1
50 retinal perforation 9.9 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

MGI Mouse Phenotypes related to Kohler's Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 COL11A1 COL11A2 COL2A1 PES1 POR
2 hearing/vestibular/ear MP:0005377 8.92 COL11A1 COL11A2 COL2A1 CYP19A1

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

The Foundational Model of Anatomy Ontology organs/tissues related to Kohler's Disease:

19
Navicular Bone Of Foot

MalaCards organs/tissues related to Kohler's Disease:

40
Bone

Publications for Kohler's Disease

Articles related to Kohler's Disease:

(show all 29)
# Title Authors PMID Year
1
Joint debridement and microfracture for treatment late-stage Freiberg-Kohler's disease: Long-term follow-up study. 61
30321965 2019
2
Osteochondrosis of the tarsal navicular and medial cuneiform in a child. 61
30949007 2018
3
Kohler disease: Imaging King Tut's foot in 21st century. 61
29885195 2018
4
Kohler's disease presenting as acute foot injury. 61
28801039 2017
5
Kohler's disease: an unusual cause for a limping child. 61
27474766 2017
6
Imaging of tarsal navicular disorders: a pictorial review. 61
24686907 2014
7
Complete spontaneous avascular necrosis of the adult navicula associated with Mee's growth arrest lines of the great and second toenails. 61
24480511 2014
8
Recognition and management of Müller-Weiss disease. 61
22735199 2012
9
Kohler's disease of the patella. 61
22764673 2012
10
Kohler's Disease. 61
22461942 2012
11
Osteochondroses and apophyseal injuries of the foot in the young athlete. 61
20827090 2010
12
["Minor foot curses": Kohler's disease II]. 61
19391411 2009
13
Kohler's disease. 61
18813432 2008
14
Osteonecrosis in the foot. 61
17426292 2007
15
Kohler disease: diagnoses and assessment by bone scintigraphy. 61
17314590 2007
16
Osteochondritis of the navicular: a case report. 61
12854674 2003
17
Bone imaging in Kohler's disease. 61
9298302 1997
18
Evaluation of pediatric foot problems: Part I. The forefoot and the midfoot. 61
8701839 1996
19
[Frieberg-Kohler disease. Long-term review of the surgical treatment in 20 cases]. 61
4017151 1985
20
Kohler's Disease. 61
24823137 1983
21
Kohler's disease of the tarsal scaphoid. 61
755472 1978
22
[Histological picture of the second Kohler disease (ultrastructural findings)]. 61
931606 1977
23
[Considerations on Kohler's disease of the second metatarsal bone]. 61
5610495 1967
24
[KOHLER'S DISEASE AND PANNER'S DISEASE]. 61
14295165 1965
25
Osteochondrosis of the tarsal scaphoid (Kohler's disease). 61
13767239 1960
26
Kohler's disease. 61
13591073 1958
27
Kohler's disease of the tarsal navicular. 61
13118343 1953
28
[Plasma cell myeloma or Kohler's disease]. 61
14957717 1952
29
Two Cases of Kohler's Disease. 61
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

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

# Super pathways Score Top Affiliating Genes
1 9.83 COL2A1 COL11A2 COL11A1 CFL1

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 endoplasmic reticulum lumen GO:0005788 9.43 COL2A1 COL11A2 COL11A1
2 extracellular matrix GO:0031012 9.33 COL2A1 COL11A2 COL11A1
3 collagen trimer GO:0005581 9.13 COL2A1 COL11A2 COL11A1
4 collagen type XI trimer GO:0005592 8.62 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 9.61 COL2A1 COL11A2 COL11A1
2 sensory perception of sound GO:0007605 9.5 COL2A1 COL11A2 COL11A1
3 heart morphogenesis GO:0003007 9.48 COL2A1 COL11A1
4 chondrocyte differentiation GO:0002062 9.46 COL2A1 COL11A2
5 tissue homeostasis GO:0001894 9.4 COL2A1 COL11A2
6 cartilage condensation GO:0001502 9.37 COL2A1 COL11A1
7 cartilage development GO:0051216 9.33 COL2A1 COL11A2 COL11A1
8 proteoglycan metabolic process GO:0006029 9.26 COL2A1 COL11A1
9 collagen fibril organization GO:0030199 9.13 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 9.13 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL2A1 COL11A2 COL11A1

Sources for Kohler's Disease

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
Content
Loading form....