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 50 11 22 46 23 24 13 52 68 12 48
Infantile Cortical Hyperostosis 11 22 46 23 24 52 68
Cortical Congenital Hyperostosis 11 66
Hyperostosis Cortical Infantile 46 25
 
Hyperostosis, Cortical, Congenital 37
Caffey-Silverman Syndrome 24
De Toni-Caffey Disease 24
Caffd 68

Characteristics:

Orphanet epidemiological data:

52
caffey disease:
Inheritance: Autosomal dominant; Age of onset: Antenatal,Childhood,Infancy,Neonatal

HPO:

62
caffey disease:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 114000
Disease Ontology11 DOID:4257
ICD1028 M89.8
MeSH37 D006958
SNOMED-CT60 123258003, 24752008
Orphanet52 ORPHA1310
ICD10 via Orphanet29 M89.8

Summaries for Caffey Disease

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Genetics Home Reference:24 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 infundibulo-neurohypophysitis and contractures-webbed neck-micrognathia-hypoplastic nipples syndrome, and has symptoms including cellulitis, behavioral abnormality and facial asymmetry. An important gene associated with Caffey Disease is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include bone, and related mouse phenotypes are skeleton and renal/urinary system.

Disease Ontology:11 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:46 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:68 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:69 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

Description from OMIM:50 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
1infundibulo-neurohypophysitis10.6COL1A1, COL1A2
2contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.6COL1A1, COL1A2
3elliptocytosis 310.6COL1A1, COL1A2
4deafness, autosomal recessive 9110.6COL1A1, COL1A2
5osteogenesis imperfecta, type iv10.6COL1A1, COL1A2
6ehlers-danlos syndrome, classic type10.5COL1A1, COL1A2
7descending colon cancer10.5COL1A1, COL1A2
8hyperostosis10.5
9diabetic foot ulcers10.4COL1A1, COL1A2
10ischemic bone disease10.3COL1A1, COL1A2
11pex7-related refsum disease10.3CD36, COL1A1, COL1A2
12mental retardation, autosomal recessive 3510.3CD36, COL1A1, COL1A2
13ehlers-danlos syndrome, cardiac valvular form10.3CD36, COL1A1, COL1A2
14osteogenesis imperfecta, type ii10.3CD36, COL1A1, COL1A2
15osteogenesis imperfecta, type iii10.3CD36, COL1A1, COL1A2
16carnitine palmitoyltransferase ii deficiency10.3CD36, COL1A1, COL1A2
17brucella abortus brucellosis10.3CD36, CD40LG
18sensory peripheral neuropathy10.2FAM20C, GALNT3
19cellulitis10.2
20gray platelet syndrome10.1CD36, CD40LG
21dislocation of ear ossicle10.1CD36, F3
22maxillary sinusitis10.0COL1A1, GALNT3
23hodgkin's lymphoma, lymphocytic-histiocytic predominance10.0CD40LG, COL1A1, COL1A2
24thrombocytosis10.0
25thrombocytopenia with elevated serum iga and renal disease9.9CD36, F3
26vulvovaginal candidiasis9.9COL1A1, COL1A2
27down syndrome9.8
28calcinosis9.8
29cervicitis9.8
30vestibular nystagmus9.8CD36, CD40LG
31marek disease9.8CD40LG, F3
32hepatic fibrosis renal cysts mental retardation9.8CD40LG, F3
33chorea gravidarum9.8CD40LG, F3
34congenital nystagmus9.8CD40LG, F3
35catatrichy9.8CD40LG, F3
36splenic infarction9.8CD40LG, F3
37lujo hemorrhagic fever9.8CD40LG, F3
38sweat gland cancer9.7CD40LG, F3
39artery disease9.7CD40LG, F3
40intracranial arteriosclerosis9.7CD40LG, F3
41cat-scratch disease9.7CD40LG, F3
42dentin dysplasia9.7CD40LG, F3
43platelet storage pool deficiency9.6CD40LG, F3
44pes anserinus tendinitis or bursitis9.6CD40LG, F3
45prostate neuroendocrine neoplasm9.5CD40LG, F3
46blood group incompatibility9.4CD40LG, F3
47ceroid lipofuscinosis, neuronal, 116.7CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C

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:

 11 52 (show all 17)
  • soft-tissue swelling
  • bone lesions
  • irritability
  • facial asymmetry
  • proptosis
  • behavioral abnormality
  • fever
  • respiratory insufficiency
  • scoliosis
  • calvarial hyperostosis
  • cortical irregularity
  • cortical thickening of long bone diaphyses
  • periosteal thickening of long tubular bones
  • feeding difficulties in infancy
  • hypergammaglobulinemia
  • cellulitis
  • hyperesthesia

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 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 fever HP:0001945
12 tibial bowing HP:0002982
13 calvarial hyperostosis HP:0004490
14 cortical irregularity HP:0005731
15 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 Infantile Cortical Hyperostosis25
2 Caffey Disease23 COL1A1

Anatomical Context for Caffey Disease

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MalaCards organs/tissues related to Caffey Disease:

34
Bone

Animal Models for Caffey Disease or affiliated genes

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MGI Mouse Phenotypes related to Caffey Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.0CD36, CD40LG, COL1A1, COL1A2, FAM20C, GALNT3
2MP:00053677.7CD36, CD40LG, COL1A1, FAM20C, GALNT3, SLCO2A1
3MP:00053847.5CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C
4MP:00053977.3CD36, CD40LG, COL1A1, F3, FAM20C, GALNT3
5MP:00053857.1CD36, CD40LG, COL1A1, COL1A2, F3, GALNT3
6MP:00053766.4CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C

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
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
Caffey disease in neonatal period: the importance of the family! (23047998)
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
Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. (19280500)
2009
15
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). (19455587)
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
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (15864348)
2005
21
Caffey disease: an unlikely collagenopathy. (15864344)
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:

68
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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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:000558410.4COL1A1, COL1A2
2extracellular matrixGO:00310129.0COL1A1, COL1A2, F3
3extracellular spaceGO:00056157.7CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.3COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.3COL1A1, COL1A2
3blood vessel developmentGO:000156810.0COL1A1, COL1A2
4positive regulation of interleukin-12 productionGO:003273510.0CD36, CD40LG
5collagen fibril organizationGO:003019910.0COL1A1, COL1A2
6cellular response to amino acid stimulusGO:00712309.9COL1A1, COL1A2
7regulation of immune responseGO:00507769.6CD40LG, COL1A1, COL1A2
8platelet activationGO:00301689.5CD40LG, COL1A1, COL1A2
9blood coagulationGO:00075968.7CD36, COL1A1, COL1A2, F3

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.6COL1A1, COL1A2
2manganese ion bindingGO:00301459.5FAM20C, GALNT3

Sources for Caffey Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet