MCID: KHL001
MIFTS: 36

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
Obsolete: Osteochondritis of Tarsal/metatarsal Bone 52 58
Aseptic Necrosis of the Tarsal Bone 52 58
Osteochondrosis of the Tarsal Bone 52 58
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

Characteristics:

Orphanet epidemiological data:

58
obsolete: osteochondritis of tarsal/metatarsal bone
Inheritance: Not applicable; Age of onset: All ages;

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 32491009
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 de quervain disease. An important gene associated with Kohler's Disease is PDLIM2 (PDZ And LIM Domain 2), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and G-protein signaling_Rap2B regulation pathway. Affiliated tissues include navicular bone of foot, bone and skin, and related phenotypes are foot pain and difficulty walking

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

Wikipedia : 74 Kohler 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 91)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 30.4 PES1 HECTD4 COL2A1
2 de quervain disease 10.4 PES1 HECTD4
3 achilles bursitis 10.4 PES1 HECTD4
4 tarsal tunnel syndrome 10.4 PES1 HECTD4
5 tibial neuropathy 10.4 PES1 HECTD4
6 patellar tendinitis 10.4 PES1 HECTD4
7 osgood-schlatter's disease 10.4 PES1 HECTD4
8 mononeuritis of lower limb 10.4 PES1 HECTD4
9 patellofemoral pain syndrome 10.4 PES1 HECTD4
10 calcific tendinitis 10.4 PES1 HECTD4
11 synostoses, tarsal, carpal, and digital 10.4 PES1 HECTD4
12 lumbosacral lipoma 10.4 PES1 HECTD4
13 spastic hemiplegia 10.3 PES1 HECTD4
14 fibrochondrogenesis 1 10.3 COL11A2 COL11A1
15 tinea pedis 10.3 PES1 HECTD4
16 ichthyosis, congenital, autosomal recessive 9 10.3 PES1 HECTD4
17 mononeuropathy 10.3 PES1 HECTD4
18 deafness, autosomal recessive 53 10.3 COL11A2 COL11A1
19 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.3 COL2A1 COL11A2
20 scheuermann disease 10.3 PES1 COL2A1
21 marshall syndrome 10.3 COL2A1 COL11A1
22 spastic diplegia 10.3 PES1 HECTD4
23 stickler syndrome, type ii 10.2 COL2A1 COL11A1
24 spastic cerebral palsy 10.2 PES1 HECTD4
25 hypochondrogenesis 10.2 COL2A1 COL11A2
26 vitreoretinal degeneration 10.2 COL2A1 COL11A1
27 neurogenic arthropathy 10.2 HECTD4 CALCA
28 multiple mucosal neuroma 10.2 PES1 CALCA
29 spondyloepiphyseal dysplasia congenita 10.2 COL2A1 COL11A2
30 macroglossia 10.2 COL2A1 COL11A1
31 myofascial pain syndrome 10.2 HECTD4 CALCA
32 avascular necrosis 10.1
33 reflex sympathetic dystrophy 10.1 HECTD4 CALCA
34 peroneal nerve paralysis 10.1 PES1 HECTD4 COL2A1
35 caffey disease 10.1 COL2A1 COL11A2
36 radioulnar synostosis 10.1 POR PES1
37 bone structure disease 10.1 PES1 HECTD4 COL2A1
38 polyradiculopathy 10.1 HECTD4 CALCA
39 bone development disease 10.1 PES1 COL2A1 COL11A2
40 vitreous syneresis 10.1 COL2A1 COL11A2 COL11A1
41 achondrogenesis, type ii 10.1 COL2A1 COL11A2 COL11A1
42 achondrogenesis 10.1 COL2A1 COL11A2 COL11A1
43 tympanosclerosis 10.1 COL2A1 CALCA
44 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.1 COL2A1 COL11A2 COL11A1
45 otospondylomegaepiphyseal dysplasia 10.1 COL2A1 COL11A2 COL11A1
46 kniest dysplasia 10.0 COL2A1 COL11A2 COL11A1
47 retinal perforation 10.0 COL2A1 COL11A2 COL11A1
48 schneckenbecken dysplasia 10.0 COL2A1 COL11A2 COL11A1
49 fibrochondrogenesis 10.0 COL2A1 COL11A2 COL11A1
50 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 foot pain 31 hallmark (90%) HP:0025238
2 difficulty walking 31 frequent (33%) HP:0002355
3 stiff skin 31 frequent (33%) HP:0030053
4 ankle swelling 31 frequent (33%) HP:0001785
5 chronic pain 31 frequent (33%) HP:0012532
6 abnormality of the os naviculare pedis 31 frequent (33%) HP:0100339
7 irregular tarsal ossification 31 frequent (33%) HP:0008134
8 abnormality of the talus 31 frequent (33%) HP:0008365
9 abnormal metatarsal ossification 31 frequent (33%) HP:0008371
10 abnormality of lower limb epiphysis morphology 31 occasional (7.5%) HP:0006500
11 abnormal tarsal bone mineral density 31 occasional (7.5%) HP:0009132

MGI Mouse Phenotypes related to Kohler's Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.02 COL11A1 COL11A2 COL2A1 PES1 POR

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, Skin

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 10.61 CYP19A1 CALCA
2 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 collagen-containing extracellular matrix GO:0062023 9.56 MGP COL2A1 COL11A2 COL11A1
2 collagen trimer GO:0005581 9.33 COL2A1 COL11A2 COL11A1
3 extracellular matrix GO:0031012 9.26 MGP 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 9.65 COL2A1 COL11A2 COL11A1
2 sensory perception of sound GO:0007605 9.58 COL2A1 COL11A2 COL11A1
3 ossification GO:0001503 9.54 MGP COL2A1 COL11A1
4 chondrocyte differentiation GO:0002062 9.46 COL2A1 COL11A2
5 tissue homeostasis GO:0001894 9.43 COL2A1 COL11A2
6 collagen fibril organization GO:0030199 9.43 COL2A1 COL11A2 COL11A1
7 skeletal system morphogenesis GO:0048705 9.33 COL2A1 COL11A2 COL11A1
8 proteoglycan metabolic process GO:0006029 9.32 COL2A1 COL11A1
9 cartilage condensation GO:0001502 9.13 MGP COL2A1 COL11A1
10 cartilage development GO:0051216 8.92 MGP 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 conferring tensile strength GO:0030020 9.13 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent GO:0005201 8.92 MGP 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
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