MCID: CFF003
MIFTS: 51

Caffey Disease malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

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 23 51 67
Hyperostosis Cortical Infantile 45 22 24
Cortical Congenital Hyperostosis 10 65
 
Hyperostosis, Cortical, Congenital 36
Caffey-Silverman Syndrome 23
De Toni-Caffey Disease 23
Caffd 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

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 hyperostosis and hypervitaminosis a, and has symptoms including cellulitis, behavioral abnormality and facial asymmetry. An important gene associated with Caffey Disease is COL1A1 (Collagen, Type I, Alpha 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include bone and lung, and related mouse phenotypes are skeleton and cellular.

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 caffey

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 63)
idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis10.7
2hypervitaminosis a10.4
3osteolysis syndrome recessive10.2COL1A1, COL1A2
4classic rett syndrome10.2COL1A1, COL1A2
5congenital trigeminal anesthesia10.2COL1A1, COL1A2
6thrombocytosis10.2
7hepatitis10.2
8aminoaciduria10.2
9erb's palsy10.2
10idiopathic linear interstitial keratitis10.2COL1A1, COL1A2
11col4a1-related disorders10.2COL1A1, COL1A2
12eif4g1-related parkinson disease10.2COL1A1, COL1A2
13larsen-like syndrome10.2COL1A1, COL1A2
14ehlers-danlos syndrome, type vi10.2COL1A1, COL5A1
15splenic flexure cancer10.2COL1A1, COL1A2
16depressed scar10.2COL1A1, COL1A2
17anterior cruciate ligament tears10.1COL1A1, COL1A2
18pervasive developmental disorder not otherwise specified10.1CD36, COL1A1, COL1A2
19chronic fatigue syndrome10.1CD36, F3
20xanthinuria10.1CD36, COL1A1, COL1A2
21down syndrome10.1
22calcinosis10.1
23cervicitis10.1
24tumoral calcinosis10.1
25ehlers-danlos syndrome, type viib10.1COL1A1, COL1A2, COL5A1
26thrombocytopenia cerebellar hypoplasia short stature10.1CD36, F3
27autosomal dominant microcephaly10.1COL1A1, COL1A2, COL5A1
28nerve plexus neoplasm10.1COL5A1, GALNT3
29sapho syndrome10.1CD36, COL1A1, COL1A2
30colon adenocarcinoma10.1COL1A1, COL1A2, COL5A1
31alopecia-mental retardation syndrome 310.1COL5A1, GALNT3
32ehrlichiosis10.1COL1A1, COL1A2, COL5A1
33ectopia lentis, familial10.1CD36, COL1A2
3446 xx gonadal dysgenesis10.0CD36, CD40LG
35hyperparathyroidism10.0COL1A1, GALNT3
36fowler's syndrome10.0CD40LG, F3
37hepatic cystic hamartoma10.0CD40LG, F3
38ollier disease10.0CD40LG, F3
39suppurative uveitis10.0CD40LG, F3
40splenic manifestation of leukemia10.0CD40LG, F3
41catatrichy10.0CD40LG, F3
42caffey disease9.9CD36, COL1A1, COL1A2, COL5A1
43osteogenesis imperfecta, type ii9.9CD36, COL1A1, COL1A2, COL5A1
44osteogenesis imperfecta, type iii9.9CD36, COL1A1, COL1A2, COL5A1
45osteogenesis imperfecta, type iv9.9CD36, COL1A1, COL1A2, COL5A1
46ehlers-danlos syndrome, classic type9.9CD36, COL1A1, COL1A2, COL5A1
47lambert-eaton myasthenic syndrome9.9CD40LG, F3
48gray platelet syndrome9.9CD36, CD40LG
49hemorrhagic proctocolitis9.9CD40LG, F3
50triple-receptor negative breast cancer9.9CD40LG, F3

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 16)
id Description Frequency HPO Source Accession
1 cellulitis hallmark (90%) HP:0100658
2 behavioral abnormality typical (50%) HP:0000708
3 facial asymmetry occasional (7.5%) HP:0000324
4 proptosis occasional (7.5%) HP:0000520
5 leukocytosis occasional (7.5%) HP:0001974
6 respiratory insufficiency occasional (7.5%) HP:0002093
7 scoliosis occasional (7.5%) HP:0002650
8 craniofacial hyperostosis occasional (7.5%) HP:0004493
9 feeding difficulties in infancy occasional (7.5%) HP:0008872
10 increased antibody level in blood occasional (7.5%) HP:0010702
11 autosomal dominant inheritance HP:0000006
12 fever HP:0001945
13 tibial bowing HP:0002982
14 calvarial hyperostosis HP:0004490
15 cortical irregularity HP:0005731
16 periosteal thickening of long tubular bones HP:0006465

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
2 Infantile Cortical Hyperostosis24

Anatomical Context for Caffey Disease

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MalaCards organs/tissues related to Caffey Disease:

33
Bone, Lung

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:00053908.2CD36, CD40LG, COL1A1, COL1A2, GALNT3
2MP:00053847.7CD36, CD40LG, COL1A1, COL1A2, F3, SLCO2A1
3MP:00107717.2CD40LG, COL1A1, COL1A2, COL5A1, F3, GALNT3
4MP:00053766.8A4GALT, CD36, CD40LG, COL1A1, F3, GALNT3
5MP:00107686.7A4GALT, CD36, CD40LG, COL1A1, COL1A2, COL5A1
6MP:00053856.6CD36, CD40LG, COL1A1, COL1A2, COL5A1, F3

Publications for Caffey Disease

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Articles related to Caffey Disease:

(show all 37)
idTitleAuthorsYear
1
Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome. (25630842)
2015
2
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
3
Caffey disease: New perspectives on old questions. (24389367)
2013
4
Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? (23522764)
2013
5
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. (22213629)
2012
6
Caffey disease in neonatal period: the importance of the family! (23047998)
2012
7
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
8
COL1A1 mutation in an Indian child with Caffey disease. (21249479)
2011
9
Prenatal Caffey disease. (21443040)
2011
10
Caffey disease. (20967539)
2010
11
Caffey disease or infantile cortical hyperostosis: a case report. (22125716)
2010
12
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. (20890006)
2010
13
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). (19455587)
2009
14
Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. (19280500)
2009
15
Infantile cortical hyperostosis (Caffey disease): a review. (18848116)
2008
16
Caffey disease with raised immunoglobulin levels and thrombocytosis. (18334802)
2008
17
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). (18704262)
2008
18
Expanding the phenotypic spectrum of Caffey disease. (17309652)
2007
19
Caffey disease: an unlikely collagenopathy. (15864344)
2005
20
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (15864348)
2005
21
Caffey disease in a 6-month-old girl. (14735359)
2004
22
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. (12884437)
2003
23
Prenatal cortical hyperostosis (Caffey disease). (12422848)
2002
24
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). (11827425)
2001
25
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. (9267903)
1997
26
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). (8588573)
1995
27
Caffey Disease (22855962)
1993
28
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. (1359527)
1992
29
Infantile cortical hyperostosis (Caffey disease): ultrastructural and immunohistochemical characterization of the peritrabecular cells. (1724929)
1990
30
Caffey disease responding to high-dose immunoglobulin. (3294018)
1988
31
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. (3526563)
1986
32
Prostaglandin synthetase inhibitor in Caffey disease. (6808107)
1982
33
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). (7023758)
1981
34
Case report 139. Infantile cortical hyperostosis (Caffey disease). (7008205)
1981
35
Letter: Familial Caffey disease. (1107501)
1976
36
Infantile cortical hyperostosis. Caffey disease. (795262)
1976
37
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.

Pathways for genes affiliated with Caffey Disease

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Pathways related to Caffey Disease according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL1A1, COL1A2
29.8COL1A1, COL1A2
39.8COL1A1, COL1A2
49.8COL1A1, COL1A2
59.4COL1A1, COL1A2, COL5A1
69.4COL1A1, COL1A2, COL5A1
79.4COL1A1, COL1A2, COL5A1
8
Show member pathways
9.4CD36, COL1A1, COL1A2
99.4CD36, COL1A1, COL1A2
109.2CD36, CD40LG
119.2CD36, CD40LG
129.0CD40LG, COL1A1, COL1A2
139.0CD40LG, COL1A1, COL1A2
14
Show member pathways
9.0CD36, COL1A1, COL1A2, COL5A1
15
Show member pathways
8.9COL1A1, COL1A2, COL5A1, F3

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:000558410.5COL1A1, COL1A2
2collagen trimerGO:00055819.4COL1A1, COL1A2, COL5A1
3endoplasmic reticulum lumenGO:00057889.3COL1A1, COL1A2, COL5A1
4extracellular matrixGO:00310128.6COL1A1, COL1A2, COL5A1, F3
5extracellular spaceGO:00056158.0CD36, CD40LG, COL1A1, COL1A2, F3

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.5COL1A1, COL1A2
2collagen biosynthetic processGO:003296410.4COL1A1, COL5A1
3protein heterotrimerizationGO:007020810.3COL1A1, COL1A2
4skin developmentGO:004358810.1COL1A1, COL5A1
5cellular response to amino acid stimulusGO:007123010.1COL1A1, COL1A2
6response to mechanical stimulusGO:000961210.0COL1A1, F3
7blood vessel developmentGO:00015689.8COL1A1, COL1A2, COL5A1
8collagen fibril organizationGO:00301999.8COL1A1, COL1A2, COL5A1
9extracellular matrix disassemblyGO:00226179.8COL1A1, COL1A2, COL5A1
10collagen catabolic processGO:00305749.7COL1A1, COL1A2, COL5A1
11positive regulation of interleukin-12 productionGO:00327359.7CD36, CD40LG
12receptor-mediated endocytosisGO:00068989.7CD36, COL1A1, COL1A2
13extracellular matrix organizationGO:00301989.4COL1A1, COL1A2, COL5A1
14regulation of immune responseGO:00507769.3CD40LG, COL1A1, COL1A2
15blood coagulationGO:00075968.7CD36, COL1A1, COL1A2, F3
16platelet activationGO:00301688.2CD36, CD40LG, COL1A1, COL1A2

Molecular functions related to Caffey Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.4COL1A1, COL1A2, COL5A1
2extracellular matrix structural constituentGO:00052019.1COL1A1, COL1A2, COL5A1

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