MCID: CFF003
MIFTS: 50

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 congenital trigeminal anesthesia and col4a1-related disorders, 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 prostate, 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1congenital trigeminal anesthesia10.5COL1A1, COL1A2
2col4a1-related disorders10.5COL1A1, COL1A2
3idiopathic linear interstitial keratitis10.5COL1A1, COL1A2
4eif4g1-related parkinson disease10.5COL1A1, COL1A2
5osteogenesis imperfecta, type iv10.5COL1A1, COL1A2
6autosomal dominant microcephaly10.5COL1A1, COL1A2
7hyperostosis10.5
8caffey disease10.5COL1A1, COL1A2
9ehlers-danlos syndrome, cardiac valvular form10.4COL1A1, COL1A2
10osteogenesis imperfecta, type ii10.4COL1A1, COL1A2
11osteogenesis imperfecta, type iii10.4COL1A1, COL1A2
12ehlers-danlos syndrome, classic type10.4COL1A1, COL1A2
13branchiootic syndrome10.4COL1A1, COL1A2
14anterior cruciate ligament tears10.4COL1A1, COL1A2
15dicrocoeliasis10.4COL1A1, COL1A2
16depressed scar10.4COL1A1, COL1A2
17darier disease10.3COL1A1, COL1A2
18bone deterioration disease10.3COL1A1, COL1A2
19sezary's disease10.3COL1A1, COL1A2
20ankylosis10.2COL1A1, COL1A2
21chronobiology disease10.1COL1A1, COL1A2
22acute maxillary sinusitis10.1COL1A1, GALNT3
23primary eye hypotony10.0COL1A1, COL1A2
24thrombocytosis10.0
25fowler's syndrome9.9CD40LG, F3
26herpes gestationis9.9CD40LG, F3
27babesiosis9.9CD40LG, F3
28splenic abscess9.9CD40LG, F3
29nephropathia epidemica9.9CD40LG, F3
30tricuspid valve disease9.9CD40LG, F3
31social phobia9.9CD40LG, F3
32vulvar melanoma9.9CD40LG, F3
33bubonic plague9.9CD40LG, F3
34benign dermal neurilemmoma9.8CD40LG, F3
35down syndrome9.8
36calcinosis9.8
37cervicitis9.8
38capillariasis9.8CD40LG, F3
39dentin dysplasia9.8CD40LG, F3
40lymph node adenoid cystic carcinoma9.7CD40LG, COL1A1, COL1A2
41jackson-weiss syndrome9.7CD40LG, COL1A1
42cerebellar angioblastoma9.7CD40LG, COL1A1, COL1A2
43alcohol-induced mental disorder9.7CD40LG, F3
44hepatic cystic hamartoma9.6CD40LG, F3
45adenocarcinoma9.6CD40LG, F3
46partial motor epilepsy9.3CD40LG, F3
47mental retardation, autosomal recessive 357.7A4GALT, CD40LG, COL1A1, COL1A2, F3, GALNT3

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, Prostate, Breast, Lymph node, 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 38)
idTitleAuthorsYear
1
Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease). (27110654)
2016
2
Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome. (25630842)
2015
3
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature. (24390061)
2014
4
Caffey disease: New perspectives on old questions. (24389367)
2013
5
Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? (23522764)
2013
6
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. (22213629)
2012
7
Caffey disease in neonatal period: the importance of the family! (23047998)
2012
8
Tumoral calcinosis of the cervical spine and its association with Caffey disease in a 4-month-old boy: case report and review of the literature. (22080299)
2012
9
COL1A1 mutation in an Indian child with Caffey disease. (21249479)
2011
10
Prenatal Caffey disease. (21443040)
2011
11
Caffey disease. (20967539)
2010
12
Caffey disease or infantile cortical hyperostosis: a case report. (22125716)
2010
13
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. (20890006)
2010
14
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). (19455587)
2009
15
Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. (19280500)
2009
16
Infantile cortical hyperostosis (Caffey disease): a review. (18848116)
2008
17
Caffey disease with raised immunoglobulin levels and thrombocytosis. (18334802)
2008
18
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). (18704262)
2008
19
Expanding the phenotypic spectrum of Caffey disease. (17309652)
2007
20
Caffey disease: an unlikely collagenopathy. (15864344)
2005
21
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (15864348)
2005
22
Caffey disease in a 6-month-old girl. (14735359)
2004
23
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. (12884437)
2003
24
Prenatal cortical hyperostosis (Caffey disease). (12422848)
2002
25
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). (11827425)
2001
26
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. (9267903)
1997
27
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). (8588573)
1995
28
Caffey Disease (22855962)
1993
29
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. (1359527)
1992
30
Infantile cortical hyperostosis (Caffey disease): ultrastructural and immunohistochemical characterization of the peritrabecular cells. (1724929)
1990
31
Caffey disease responding to high-dose immunoglobulin. (3294018)
1988
32
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. (3526563)
1986
33
Prostaglandin synthetase inhibitor in Caffey disease. (6808107)
1982
34
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). (7023758)
1981
35
Case report 139. Infantile cortical hyperostosis (Caffey disease). (7008205)
1981
36
Letter: Familial Caffey disease. (1107501)
1976
37
Infantile cortical hyperostosis. Caffey disease. (795262)
1976
38
Autosomal dominant inheritance of Caffey disease. (4609117)
1974

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