MCID: CFF003
MIFTS: 51

Caffey Disease malady

Bone diseases, Fetal diseases categories

Summaries for Caffey Disease

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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: Caffey Disease, also known as infantile cortical hyperostosis, is related to collagen disease and hyperostosis, and has symptoms including respiratory distress/dyspnea/respiratory failure/lung volume reduction, hypergammaglobulinemia and hyperleukocytosis/leukocytosis. 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 Binding and Uptake of Ligands by Scavenger Receptors. The compounds glycosaminoglycan and hydroxyproline have been mentioned in the context of this disorder. Affiliated tissues include bone and lung, and related mouse phenotypes are muscle and behavior/neurological.

Disease Ontology:8 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.

Wikipedia:63 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

Description from OMIM:46 114000

GeneReviews summary for caffey

Aliases & Classifications for Caffey Disease

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 34MeSH, 39NCIt, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
caffey disease:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

caffey disease 8 9 19 42 20 21 46 10 44 48
infantile cortical hyperostosis 8 19 42 21 48
cortical congenital hyperostosis 8 60
hyperostosis cortical infantile 42 22
caffey-silverman syndrome 21
de toni-caffey disease 21


External Ids:

Disease Ontology8 DOID:4257
NCIt39 C84645
SNOMED-CT56 24752008, 123258003
OMIM46 114000
SNOMED-CT via Orphanet57 24752008
ICD10 via Orphanet26 M89.8

Related Diseases for Caffey Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Caffey Disease:



Diseases related to caffey disease

Clinical Features for Caffey Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

114000

Clinical synopsis from OMIM:

114000

Symptoms:

48 (show all 18)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypergammaglobulinemia
  • hyperleukocytosis/leukocytosis
  • autosomal dominant inheritance
  • soft-tissue swelling
  • bone lesions
  • irritability
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • scoliosis
  • 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
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue

Drugs & Therapeutics for Caffey Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Caffey Disease

Search NIH Clinical Center for Caffey Disease

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Genetic Tests for Caffey Disease

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20GeneTests, 22GTR
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Genetic tests related to Caffey Disease:

id Genetic test Affiliating Genes
1 Caffey Disease20 COL1A1
2 Infantile Cortical Hyperostosis22

Anatomical Context for Caffey Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Caffey Disease:

32
Bone, Lung

Animal Models for Caffey Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Caffey Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8CD36, TBCE, COL1A1
2MP:00053867.9CD36, TBCE, TUBA1A, COL1A1
3MP:00036317.7COL1A1, TUBA1A, TBCE, CD36

Publications for Caffey Disease

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50PubMed
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Articles related to Caffey Disease:

(show all 37)
idTitleAuthorsYear
1
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
2
Caffey disease: New perspectives on old questions. (24389367)
2013
3
Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? (23522764)
2013
4
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. (22213629)
2012
5
Caffey disease in neonatal period: the importance of the family! (23047998)
2012
6
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
7
COL1A1 mutation in an Indian child with Caffey disease. (21249479)
2011
8
Prenatal Caffey disease. (21443040)
2011
9
Caffey disease. (20967539)
2010
10
Caffey disease or infantile cortical hyperostosis: a case report. (22125716)
2010
11
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. (20890006)
2010
12
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). (19455587)
2009
13
Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. (19280500)
2009
14
Infantile cortical hyperostosis (Caffey disease): a review. (18848116)
2008
15
Caffey disease with raised immunoglobulin levels and thrombocytosis. (18334802)
2008
16
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). (18704262)
2008
17
Expanding the phenotypic spectrum of Caffey disease. (17309652)
2007
18
Caffey disease: an unlikely collagenopathy. (15864344)
2005
19
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (15864348)
2005
20
Caffey disease in a 6-month-old girl. (14735359)
2004
21
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. (12884437)
2003
22
Prenatal cortical hyperostosis (Caffey disease). (12422848)
2002
23
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). (11827425)
2001
24
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. (10712106)
2000
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

Genetic Variations for Caffey Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Caffey Disease:

62
id Symbol AA change Variation ID SNP ID
1COL1A1p.Arg1014CysVAR_033097

Expression for genes affiliated with Caffey Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Caffey Disease

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Pathways for genes affiliated with Caffey Disease

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49PharmGKB, 53Reactome, 29KEGG
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Compounds for genes affiliated with Caffey Disease

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Caffey Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan449.4CD36, COL1A1
2hydroxyproline44 11 2411.3CD36, COL1A1
3procollagen449.1CD36, COL1A1

GO Terms for genes affiliated with Caffey Disease

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16Gene Ontology
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Biological processes related to Caffey Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.4CD36, COL1A1
2de novo posttranslational protein foldingGO:0510848.9TBCE, TUBA1A
3protein foldingGO:0064578.7TBCE, TUBA1A

Products for genes affiliated with Caffey Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Caffey Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet