MCID: CFF003
MIFTS: 51

Caffey Disease malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Caffey Disease

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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 based summary: Caffey Disease, also known as infantile cortical hyperostosis, is related to hyperostosis and hypervitaminosis a, and has symptoms including cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue, cortical anomaly/thick bone cortical layer and hyperesthesia/allodynia/hyperalgia. An important gene associated with Caffey Disease is COL1A1 (collagen, type I, alpha 1), and among its related pathways are Focal adhesion and Binding and Uptake of Ligands by Scavenger Receptors. The compounds hydroxyproline and procollagen 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.

NIH Rare Diseases:42 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

Wikipedia:65 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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Caffey Disease, Aliases & Descriptions:

Name: Caffey Disease 8 9 19 42 20 21 46 10 44 48
Infantile Cortical Hyperostosis 8 19 42 21 48
Cortical Congenital Hyperostosis 8 62
 
Hyperostosis Cortical Infantile 42 22
Caffey-Silverman Syndrome 21
De Toni-Caffey Disease 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:4257
NCIt39 C84645
SNOMED-CT57 24752008, 123258003
OMIM46 114000
ICD10 via Orphanet26 M89.8

Related Diseases for Caffey Disease

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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:

48 (show all 15)
  • 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

HPO human phenotypes related to Caffey Disease:

(show all 18)
id Description Frequency HPO Source Accession
1 abnormal cortical bone morphology hallmark (90%) HP:0003103
2 cellulitis hallmark (90%) HP:0100658
3 behavioral abnormality typical (50%) HP:0000708
4 abnormality of temperature regulation typical (50%) HP:0004370
5 facial asymmetry occasional (7.5%) HP:0000324
6 proptosis occasional (7.5%) HP:0000520
7 leukocytosis occasional (7.5%) HP:0001974
8 respiratory insufficiency occasional (7.5%) HP:0002093
9 scoliosis occasional (7.5%) HP:0002650
10 craniofacial hyperostosis occasional (7.5%) HP:0004493
11 feeding difficulties in infancy occasional (7.5%) HP:0008872
12 hypergammaglobulinemia occasional (7.5%) HP:0010702
13 autosomal dominant inheritance HP:0000006
14 fever HP:0001945
15 tibial bowing HP:0002982
16 calvarial hyperostosis HP:0004490
17 cortical irregularity HP:0005731
18 periosteal thickening of long tubular bones HP:0006465

Drugs & Therapeutics for Caffey Disease

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Drug clinical trials:

Search ClinicalTrials for Caffey Disease

Search NIH Clinical Center for Caffey Disease

Genetic Tests for Caffey Disease

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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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MalaCards organs/tissues related to Caffey Disease:

32
Bone, Lung

Animal Models for Caffey Disease or affiliated genes

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MGI Mouse Phenotypes related to Caffey Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6CD36, COL1A1, TBCE
2MP:00053867.9A4GALT, COL1A1, TBCE, CD36
3MP:00107687.7CD36, A4GALT, COL1A1, TBCE

Publications for Caffey Disease

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Articles related to Caffey Disease:

(show all 36)
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
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. (9267903)
1997
25
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). (8588573)
1995
26
Caffey Disease (22855962)
1993
27
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. (1359527)
1992
28
Infantile cortical hyperostosis (Caffey disease): ultrastructural and immunohistochemical characterization of the peritrabecular cells. (1724929)
1990
29
Caffey disease responding to high-dose immunoglobulin. (3294018)
1988
30
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. (3526563)
1986
31
Prostaglandin synthetase inhibitor in Caffey disease. (6808107)
1982
32
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). (7023758)
1981
33
Case report 139. Infantile cortical hyperostosis (Caffey disease). (7008205)
1981
34
Letter: Familial Caffey disease. (1107501)
1976
35
Infantile cortical hyperostosis. Caffey disease. (795262)
1976
36
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:

64
id Symbol AA change Variation ID SNP ID
1COL1A1p.Arg1014CysVAR_033097

Clinvar genetic disease variations for Caffey Disease:

6
id Gene Name 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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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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Pathways related to Caffey Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.4CD36, COL1A1
2
Show member pathways
9.4CD36, COL1A1
39.4CD36, COL1A1

Compounds for genes affiliated with Caffey Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Caffey Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyproline44 24 1111.5COL1A1, CD36
2procollagen449.4COL1A1, CD36
3pge2449.4COL1A1, CD36
4glycosaminoglycan449.3CD36, COL1A1
5vitamin d449.1CD36, COL1A1

GO Terms for genes affiliated with Caffey Disease

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Biological processes related to Caffey Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.4CD36, COL1A1

Products for genes affiliated with Caffey Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet