MCID: CFF003
MIFTS: 44

Caffey Disease malady

Bone, Fetal categories

Summaries for Caffey Disease

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 thrombocytosis and autosomal dominant disease, and has symptoms including scoliosis, feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia and humour troubles/anxiety/depression/apathy/euphoria/irritability. 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 myeloid and t cells, 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:64 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

Description from OMIM:47 114000

GeneReviews summary for caffey

Aliases & Classifications for Caffey Disease

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
caffey disease:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

caffey disease 8 9 19 43 20 21 47 10 45 49
infantile cortical hyperostosis 8 19 43 21 49
cortical congenital hyperostosis 8 61
hyperostosis cortical infantile 43 22
caffey-silverman syndrome 21
de toni-caffey disease 21


External Ids:

Disease Ontology8 DOID:4257
NCIt40 C84645
SNOMED-CT57 24752008, 123258003
OMIM47 114000
ICD10 via Orphanet26 M89.8

Related Diseases for Caffey Disease

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

114000

Clinical synopsis from OMIM:

114000

Symptoms:

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

Drugs & Therapeutics for Caffey Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Caffey Disease

Drug clinical trials:

Search ClinicalTrials for Caffey Disease

Search NIH Clinical Center for Caffey Disease

Search CenterWatch for Caffey Disease

Genetic Tests for Caffey Disease

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Caffey Disease:

33
Myeloid, T cells

Animal Models for Caffey Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Caffey Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Caffey Disease:

(show all 42)
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
Prenatal infantile cortical hyperostosis (Caffey's disease): a 'hepatic myeloid hyperplasia-pulmonary hypoplasia sequence' can explain the lethality of early onset cases. (16193456)
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
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. (10712106)
2000
26
Radiologic case study. Infantile cortical hyperostosis (Caffey's disease). (10418870)
1999
27
Sporadic congenital infantile cortical hyperostosis (Caffey's disease). (10064204)
1998
28
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. (9267903)
1997
29
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). (8588573)
1995
30
Delayed infantile cortical hyperostosis (Caffey's disease): case report. (7490496)
1995
31
Severe prenatal infantile cortical hyperostosis (Caffey's disease). (8298744)
1993
32
Caffey Disease (22855962)
1993
33
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. (1359527)
1992
34
Infantile cortical hyperostosis (Caffey disease): ultrastructural and immunohistochemical characterization of the peritrabecular cells. (1724929)
1990
35
Caffey disease responding to high-dose immunoglobulin. (3294018)
1988
36
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. (3526563)
1986
37
Prostaglandin synthetase inhibitor in Caffey disease. (6808107)
1982
38
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). (7023758)
1981
39
Case report 139. Infantile cortical hyperostosis (Caffey disease). (7008205)
1981
40
Letter: Familial Caffey disease. (1107501)
1976
41
Infantile cortical hyperostosis. Caffey disease. (795262)
1976
42
Autosomal dominant inheritance of Caffey disease. (4609117)
1974

Genetic Variations for Caffey Disease

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Caffey Disease:

63
id Symbol AA change Variation SNP ID
1COL1A1p.Arg1014CysVAR_033097

Expression for genes affiliated with Caffey Disease

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

Search GEO for disease gene expression data for Caffey Disease.

Pathways for genes affiliated with Caffey Disease

Sources:
50PharmGKB, 54Reactome, 30KEGG
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Compounds for genes affiliated with Caffey Disease

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Caffey Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan459.4CD36, COL1A1
2hydroxyproline45 11 2411.3CD36, COL1A1
3procollagen459.1CD36, COL1A1

GO Terms for genes affiliated with Caffey Disease

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Caffey Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet