MCID: CFF003
MIFTS: 52

Caffey Disease malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Caffey Disease

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Aliases & Descriptions for Caffey Disease:

Name: Caffey Disease 49 10 11 21 45 22 23 47 12 51 67
Infantile Cortical Hyperostosis 10 21 45 22 23 51 67
Cortical Congenital Hyperostosis 10 65
Hyperostosis Cortical Infantile 45 24
 
Hyperostosis, Cortical, Congenital 36
Caffey-Silverman Syndrome 23
De Toni-Caffey Disease 23
Caffd 67

Characteristics:

Orphanet epidemiological data:

51
caffey disease:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

61
caffey disease:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 114000
Disease Ontology10 DOID:4257
ICD1027 M89.8
MeSH36 D006958
SNOMED-CT59 123258003, 24752008
NCIt42 C84645
Orphanet51 1310
ICD10 via Orphanet28 M89.8
UMLS65 C0020497

Summaries for Caffey Disease

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Genetics Home Reference:23 Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.

MalaCards based summary: Caffey Disease, also known as infantile cortical hyperostosis, is related to mucoepidermoid carcinoma and congenital trigeminal anesthesia, and has symptoms including cellulitis, behavioral abnormality and increased antibody level in blood. An important gene associated with Caffey Disease is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Cell adhesion_ECM remodeling. Affiliated tissues include bone, lung and heart, and related mouse phenotypes are renal/urinary system and integument.

Disease Ontology:10 A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.

NIH Rare Diseases:45 Caffey disease is a bone disorder that most often occurs in babies. it is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. affected bones may double or triple in width. in some cases, two bones that are next to each other may become fused. caffey disease is caused by a mutation in the col1a1 gene. it is inherited in an autosomal dominant pattern, but not all people who inherit the mutation develop signs and symptoms. this is due to incomplete penetrance.  last updated: 4/15/2014

UniProtKB/Swiss-Prot:67 Caffey disease: Characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age.

Wikipedia:68 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

Description from OMIM:49 114000

GeneReviews summary for NBK99168

Related Diseases for Caffey Disease

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Diseases related to Caffey Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1mucoepidermoid carcinoma10.6
2congenital trigeminal anesthesia10.3COL1A1, COL1A2
3col4a1-related disorders10.3COL1A1, COL1A2
4idiopathic linear interstitial keratitis10.3COL1A1, COL1A2
5eif4g1-related parkinson disease10.3COL1A1, COL1A2
6osteogenesis imperfecta, type iv10.3COL1A1, COL1A2
7autosomal dominant microcephaly10.3COL1A1, COL1A2
8caffey disease10.3COL1A1, COL1A2
9ehlers-danlos syndrome, cardiac valvular form10.3COL1A1, COL1A2
10osteogenesis imperfecta, type ii10.3COL1A1, COL1A2
11osteogenesis imperfecta, type iii10.3COL1A1, COL1A2
12ehlers-danlos syndrome, classic type10.3COL1A1, COL1A2
13branchiootic syndrome10.3COL1A1, COL1A2
14anterior cruciate ligament tears10.3COL1A1, COL1A2
15dicrocoeliasis10.2COL1A1, COL1A2
16depressed scar10.2COL1A1, COL1A2
17darier disease10.2COL1A1, COL1A2
18bone deterioration disease10.2COL1A1, COL1A2
19sezary's disease10.2COL1A1, COL1A2
20ankylosis10.2COL1A1, COL1A2
21neuroblastoma10.1
22lung cancer10.1
23prostate cancer10.1
24breast cancer10.1
25obesity10.1
26renal cell carcinoma10.1
27obsessive-compulsive disorder10.1
28smith-magenis syndrome10.1
29vitamin b12 deficiency10.1
30pervasive developmental disorder10.1
31obsessive-compulsive personality disorder10.1
32chlamydia10.1
33retinal microaneurysm10.1
34multicentric reticulohistiocytosis10.1
35coronary thrombosis10.1
36dementia10.1
37urethritis10.1
38prostatitis10.1
39personality disorder10.1
40vascular disease10.1
41hyperuricemia10.1
42bruxism10.1
43acute pancreatitis10.1
44lipomatosis10.1
45laryngitis10.1
46retinitis10.1
47renal clear cell carcinoma10.1
48pancreatitis10.1
49myositis10.1
50myositis ossificans10.1

Graphical network of the top 20 diseases related to Caffey Disease:



Diseases related to caffey disease

Symptoms for Caffey Disease

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Symptoms by clinical synopsis from OMIM:

114000

Clinical features from OMIM:

114000

Symptoms:

 51 10 (show all 18)
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • cortical anomaly/thick bone cortical layer
  • hyperesthesia/allodynia/hyperalgia
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • bone tumefaction/swelling
  • fever/chilling
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • proptosis/exophthalmos
  • scoliosis
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypergammaglobulinemia
  • hyperleukocytosis/leukocytosis
  • autosomal dominant inheritance
  • soft-tissue swelling
  • bone lesions
  • irritability

HPO human phenotypes related to Caffey Disease:

(show all 15)
id Description Frequency HPO Source Accession
1 cellulitis hallmark (90%) HP:0100658
2 behavioral abnormality typical (50%) HP:0000708
3 increased antibody level in blood occasional (7.5%) HP:0010702
4 feeding difficulties in infancy occasional (7.5%) HP:0008872
5 craniofacial hyperostosis occasional (7.5%) HP:0004493
6 scoliosis occasional (7.5%) HP:0002650
7 respiratory insufficiency occasional (7.5%) HP:0002093
8 leukocytosis occasional (7.5%) HP:0001974
9 proptosis occasional (7.5%) HP:0000520
10 facial asymmetry occasional (7.5%) HP:0000324
11 periosteal thickening of long tubular bones HP:0006465
12 cortical irregularity HP:0005731
13 calvarial hyperostosis HP:0004490
14 tibial bowing HP:0002982
15 fever HP:0001945

Drugs & Therapeutics for Caffey Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Caffey Disease


Cochrane evidence based reviews: hyperostosis, cortical, congenital

Genetic Tests for Caffey Disease

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Genetic tests related to Caffey Disease:

id Genetic test Affiliating Genes
1 Caffey Disease22 COL1A1

Anatomical Context for Caffey Disease

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MalaCards organs/tissues related to Caffey Disease:

33
Bone, Lung, Heart, Thyroid, Prostate, Hypothalamus, T cells

Animal Models for Caffey Disease or affiliated genes

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MGI Mouse Phenotypes related to Caffey Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2CD40LG, COL1A1, GALNT3, SLCO2A1
2MP:00107718.0CD40LG, COL1A1, COL1A2, F3, GALNT3
3MP:00053857.2CD40LG, COL1A1, COL1A2, F3, GALNT3, SLCO2A1
4MP:00107687.1A4GALT, CD40LG, COL1A1, COL1A2, F3, SLCO2A1
5MP:00053766.6A4GALT, CD40LG, COL1A1, COL1A2, F3, GALNT3

Publications for Caffey Disease

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Articles related to Caffey Disease:

(show all 37)
idTitleAuthorsYear
1
Bilateral stereotactic thalamotomy for bilateral musician's hand dystonia. (27188636)
2016
2
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus. (25733326)
2015
3
Enrichment of human embryonic stem cell-derived NKX6.1-expressing pancreatic progenitor cells accelerates the maturation of insulin-secreting cells in vivo. (23897760)
2013
4
A survey of emergency department resources and strategies employed in the treatment of pediatric gastroenteritis. (23701343)
2013
5
Ischemic heart disease: comprehensive evaluation by cardiovascular magnetic resonance. (21742086)
2011
6
Laboratory models for studying ectopic pregnancy. (21666470)
2011
7
Neurobiological mechanisms underlying GnRH pulse generation by the hypothalamus. (20951683)
2010
8
A single-nucleotide polymorphism of the TNFAIP3 gene is associated with systemic lupus erythematosus in Chinese Han population. (19774492)
2010
9
High expression of PRL-3 can promote growth of gastric cancer and exhibits a poor prognostic impact on patients. (19009246)
2009
10
Costeff optic atrophy syndrome: new clinical case and novel molecular findings. (18985435)
2008
11
Failure of filgrastim to prevent severe clozapine-induced agranulocytosis. (18475227)
2008
12
Increased IL-1beta expression and myofibroblast recruitment in subacromial bursa is associated with rotator cuff lesions with shoulder stiffness. (18327798)
2008
13
Pemphigus foliaceus-like drug reaction in a dog. (18336429)
2008
14
Nitric oxide in the pulmonary vasculature. (17541026)
2007
15
Mutation analysis of the MCM gene in Korean patients with MMA. (15781199)
2005
16
A novel mechanism of G protein-dependent phosphorylation of vasodilator-stimulated phosphoprotein. (16046415)
2005
17
MnSOD up-regulates maspin tumor suppressor gene expression in human breast and prostate cancer cells. (14580325)
2003
18
Development of 5-[(3-aminopropyl)phosphinooxy]-2-(hydroxymethyl)-4H-pyran-4-one as a novel whitening agent. (12576642)
2003
19
Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. (12419761)
2002
20
Butenafine hydrochloride (Mentax) cream for the treatment of hyperkeratotic type tinea pedis and its transfer into the horny layer, with or without concomitant application of 20% urea ointment (Keratinamin). (11714064)
2001
21
Protein kinase G activates the JNK1 pathway via phosphorylation of MEKK1. (11278263)
2001
22
Effect of the serotonin receptor agonist, buspirone, on immune function in HIV-infected individuals: a six-month randomized, double-blind, placebo-controlled trial. (11590486)
2000
23
Association between an alpha(2) macroglobulin DNA polymorphism and late-onset Alzheimer's disease. (10527839)
1999
24
Crystal structure of a calcium-phospholipid binding domain from cytosolic phospholipase A2. (9430701)
1998
25
Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441) (9361046)
1997
26
Endotoxin-induced release of interleukin 6 and interleukin 1 beta in human blood is independent of tumor necrosis factor alpha. (8682145)
1996
27
Hormonal control of the biosynthesis of hamster oviductin. (8527847)
1995
28
Pleomorphic xanthoastrocytoma: some new observations. (1335384)
1992
29
Paraffin-immunohistochemical analysis of 226 non-Hodgkin's malignant lymphomas in the endemic area of human T-cell leukemia virus type 1. (1867099)
1991
30
Immunocytochemical staining for human chorionic gonadotropin subunits does not predict malignancy in insulinomas. (1689098)
1990
31
A type of adult polyglucosan body disease. (6814164)
1982
32
Irritable-bowel syndrome with lactose intolerance. (50523)
1975
33
Physiologic combinations of synthetic thyroid hormones in myxedema. (4158675)
1965
34
FOUR SEPARATE TUMOUR CLONES DERIVED FROM A TRANSPLANTABLE PLEOMORPHIC CARCINOMA OF THE LUNG IN A HETEROZYGOUS MOUSE. (14263471)
1965
35
MERALGIA PARESTHETICA: REPORT OF A CASE SUCCESSFULLY TREATED BY SURGERY. (14134751)
1964
36
The circulatory effects of acute respiratory failure: with special reference to acute cor pulmonale. (13760228)
1961
37
Rocky Mountain spotted fever. (13361168)
1956

Variations for Caffey Disease

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UniProtKB/Swiss-Prot genetic disease variations for Caffey Disease:

67
id Symbol AA change Variation ID SNP ID
1COL1A1p.Arg1014CysVAR_033097

Clinvar genetic disease variations for Caffey Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys)single nucleotide variantPathogenicrs72653170GRCh37Chr 17, 48266269: 48266269
2A4GALTA4GALT, 42C-Tsingle nucleotide variantPathogenic

Expression for genes affiliated with Caffey Disease

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Search GEO for disease gene expression data for Caffey Disease.

GO Terms for genes affiliated with Caffey Disease

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Cellular components related to Caffey Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.7COL1A1, COL1A2

Biological processes related to Caffey Disease according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to mechanical stimulusGO:000961210.0COL1A1, F3
2collagen catabolic processGO:00305749.8COL1A1, COL1A2
3cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
4leukocyte migrationGO:00509009.6COL1A1, COL1A2
5positive regulation of cell migrationGO:00303359.6COL1A1, F3
6response to estradiolGO:00323559.6COL1A1, F3
7skin morphogenesisGO:00435899.4COL1A1, COL1A2
8platelet activationGO:00301689.0CD40LG, COL1A1, COL1A2

Sources for Caffey Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet