Kohler's Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

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

Orphanet ⁵⁸ ORPHA2054 ORPHA563991

SNOMED-CT via HPO ⁶⁸ 228158008 26237000 267039000 more

UMLS ⁷¹ C0022765 C0158444 C0264096

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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...

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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:

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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

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Drugs & Therapeutics for Kohler's Disease

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

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Genetic Tests for Kohler's Disease

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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

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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	Viladot A...Marcellini L	30321965	2019
2	Osteochondrosis of the tarsal navicular and medial cuneiform in a child. ⁶¹	Duncan B...Hurst D	30949007	2018
3	Kohler disease: Imaging King Tut's foot in 21st century. ⁶¹	Riaz S...Khan AH	29885195	2018
4	Kohler's disease presenting as acute foot injury. ⁶¹	Alhamdani M...Kelly C	28801039	2017
5	Kohler's disease: an unusual cause for a limping child. ⁶¹	Shanley J...Knight DM	27474766	2017
6	Imaging of tarsal navicular disorders: a pictorial review. ⁶¹	Tuthill HL...Jose J	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	Singh D...Ferrerro A	24480511	2014
8	Recognition and management of Müller-Weiss disease. ⁶¹	Doyle T...Wong-Chung J	22735199	2012
9	Kohler's disease of the patella. ⁶¹	Suresh SS...Orth MC	22764673	2012
10	Kohler's Disease. ⁶¹	Shastri N...Fowler M	22461942	2012
11	Osteochondroses and apophyseal injuries of the foot in the young athlete. ⁶¹	Gillespie H	20827090	2010
12	["Minor foot curses": Kohler's disease II]. ⁶¹	Schuh A...Honle W	19391411	2009
13	Kohler's disease. ⁶¹	Khan AQ...Hali NZ	18813432	2008
14	Osteonecrosis in the foot. ⁶¹	DiGiovanni CW...Nickisch F	17426292	2007
15	Kohler disease: diagnoses and assessment by bone scintigraphy. ⁶¹	Khoury J...Keidar Z	17314590	2007
16	Osteochondritis of the navicular: a case report. ⁶¹	Sharp RJ...Saxby TS	12854674	2003
17	Bone imaging in Kohler's disease. ⁶¹	Gips S...Groshar D	9298302	1997
18	Evaluation of pediatric foot problems: Part I. The forefoot and the midfoot. ⁶¹	Manusov EG...Epperly TD	8701839	1996
19	[Frieberg-Kohler disease. Long-term review of the surgical treatment in 20 cases]. ⁶¹	Giancola R...Borsotti C	4017151	1985
20	Kohler's Disease. ⁶¹	Yngve DA	24823137	1983
21	Kohler's disease of the tarsal scaphoid. ⁶¹	Weston WJ	755472	1978
22	[Histological picture of the second Kohler disease (ultrastructural findings)]. ⁶¹	Logroscino CA...Sacchettoni Logroscino G	931606	1977
23	[Considerations on Kohler's disease of the second metatarsal bone]. ⁶¹	Beltrami P	5610495	1967
24	[KOHLER'S DISEASE AND PANNER'S DISEASE]. ⁶¹	OKUDA K...ONDA K	14295165	1965
25	Osteochondrosis of the tarsal scaphoid (Kohler's disease). ⁶¹	MARSHALL SB	13767239	1960
26	Kohler's disease. ⁶¹	COX MJ	13591073	1958
27	Kohler's disease of the tarsal navicular. ⁶¹	YALE I	13118343	1953
28	[Plasma cell myeloma or Kohler's disease]. ⁶¹	DAGNINO A	14957717	1952
29	Two Cases of Kohler's Disease. ⁶¹	Roth PB	19983291	1923

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Genes for Kohler's Disease

Genes related to Kohler's Disease (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PDLIM2	PDZ And LIM Domain 2	Protein Coding	6.74	DISEASES inferred ¹⁵
2	HECTD4	HECT Domain E3 Ubiquitin Protein Ligase 4	Protein Coding	5.98	DISEASES inferred ¹⁵
3	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	5.98	DISEASES inferred ¹⁵
4	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	5.2	DISEASES inferred ¹⁵
5	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	4.78	DISEASES inferred ¹⁵
6	POR	Cytochrome P450 Oxidoreductase	Protein Coding	4.66	DISEASES inferred ¹⁵
7	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	4.37	DISEASES inferred ¹⁵
8	MGP	Matrix Gla Protein	Protein Coding	4.2	DISEASES inferred ¹⁵
9	CFL1	Cofilin 1	Protein Coding	4.09	DISEASES inferred ¹⁵
10	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	3.58	DISEASES inferred ¹⁵
11	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	3.41	DISEASES inferred ¹⁵
12	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	3.29	DISEASES inferred ¹⁵

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Variations for Kohler's Disease

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Expression for Kohler's Disease

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

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Pathways for Kohler's Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	10.61	CYP19A1 CALCA
2	G-protein signaling_Rap2B regulation pathway ²²	9.83	COL2A1 COL11A2 COL11A1 CFL1

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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

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Sources for Kohler's Disease

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