MCID: CFF003
MIFTS: 53

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 51 11 23 47 24 25 53 69 12 49 13
Infantile Cortical Hyperostosis 11 23 47 24 25 53 69
Cortical Congenital Hyperostosis 11 67
Hyperostosis Cortical Infantile 47 26
 
Hyperostosis, Cortical, Congenital 38
Caffey-Silverman Syndrome 25
De Toni-Caffey Disease 25
Caffd 69

Characteristics:

Orphanet epidemiological data:

53
caffey disease:
Inheritance: Autosomal dominant; Age of onset: Antenatal,Childhood,Infancy,Neonatal

HPO:

63
caffey disease:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: incomplete penetrance based on family history or molecular genetic testing has been noted [newberg & tampas 1981, cho et al 2008]. in a family studied by gensure et al [2005], 19 of 24 (79%) individuals with the defining col1a1 pathogenic variant had a clinical history of an episode consistent with caffey disease...


Classifications:



External Ids:

OMIM51 114000
Disease Ontology11 DOID:4257
ICD1029 M89.8
MeSH38 D006958
SNOMED-CT61 123258003, 24752008
Orphanet53 ORPHA1310
ICD10 via Orphanet30 M89.8

Summaries for Caffey Disease

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Genetics Home Reference:25 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 testes, and related mouse phenotypes are renal/urinary system and immune 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:47 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:69 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:70 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

Description from OMIM:51 114000

GeneReviews 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1infundibulo-neurohypophysitis10.5COL1A1, COL1A2
2contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.4COL1A1, COL1A2
3elliptocytosis 310.4COL1A1, COL1A2
4deafness, autosomal recessive 9110.4COL1A1, COL1A2
5osteogenesis imperfecta, type iv10.4COL1A1, COL1A2
6ehlers-danlos syndrome, classic type10.4COL1A1, COL1A2
7hyperostosis10.4
8descending colon cancer10.3COL1A1, COL1A2
9diabetic foot ulcers10.3COL1A1, COL1A2
10brucella abortus brucellosis10.2CD36, CD40LG
11pex7-related refsum disease10.2CD36, COL1A1, COL1A2
12mental retardation, autosomal recessive 3510.2CD36, COL1A1, COL1A2
13ehlers-danlos syndrome, cardiac valvular form10.2CD36, COL1A1, COL1A2
14osteogenesis imperfecta, type ii10.2CD36, COL1A1, COL1A2
15sensory peripheral neuropathy10.2FAM20C, GALNT3
16osteogenesis imperfecta, type iii10.2CD36, COL1A1, COL1A2
17cellulitis10.1
18dislocation of ear ossicle10.0CD36, F3
19ischemic bone disease10.0COL1A1, COL1A2
20maxillary sinusitis10.0COL1A1, GALNT3
21gray platelet syndrome10.0CD36, CD40LG
22hodgkin's lymphoma, lymphocytic-histiocytic predominance9.9CD40LG, COL1A1, COL1A2
23thrombocytopenia with elevated serum iga and renal disease9.9CD36, F3
24thrombocytosis9.9
25marek disease9.8CD40LG, F3
26hepatic fibrosis renal cysts mental retardation9.8CD40LG, F3
27chorea gravidarum9.8CD40LG, F3
28congenital nystagmus9.8CD40LG, F3
29catatrichy9.7CD40LG, F3
30splenic infarction9.7CD40LG, F3
31lujo hemorrhagic fever9.7CD40LG, F3
32sweat gland cancer9.7CD40LG, F3
33down syndrome9.7
34calcinosis9.7
35cervicitis9.7
36artery disease9.7CD40LG, F3
37intracranial arteriosclerosis9.7CD40LG, F3
38cat-scratch disease9.7CD40LG, F3
39dentin dysplasia9.6CD40LG, F3
40platelet storage pool deficiency9.5CD40LG, F3
41pes anserinus tendinitis or bursitis9.5CD40LG, F3
42prostate neuroendocrine neoplasm9.2CD40LG, F3
43ceroid lipofuscinosis, neuronal, 117.0CD36, 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
  • soft-tissue swelling
  • bone lesions
  • irritability

Human phenotypes related to Caffey Disease:

 63 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cellulitis63 53 hallmark (90%) Very frequent (99-80%) HP:0100658
2 behavioral abnormality63 53 typical (50%) Frequent (79-30%) HP:0000708
3 facial asymmetry63 53 occasional (7.5%) Occasional (29-5%) HP:0000324
4 proptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000520
5 leukocytosis63 occasional (7.5%) HP:0001974
6 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
7 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
8 craniofacial hyperostosis63 occasional (7.5%) HP:0004493
9 feeding difficulties in infancy63 53 occasional (7.5%) Occasional (29-5%) HP:0008872
10 increased antibody level in blood63 occasional (7.5%) HP:0010702
11 fever63 53 Frequent (79-30%) HP:0001945
12 tibial bowing63 HP:0002982
13 calvarial hyperostosis63 53 Occasional (29-5%) HP:0004490
14 cortical irregularity63 53 Very frequent (99-80%) HP:0005731
15 periosteal thickening of long tubular bones63 53 Frequent (79-30%) HP:0006465
16 cortical thickening of long bone diaphyses53 Occasional (29-5%)
17 hypergammaglobulinemia53 Occasional (29-5%)
18 hyperesthesia53 Frequent (79-30%)

Drugs & Therapeutics for Caffey Disease

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Drugs for Caffey Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ketamineapproved, vet_approvedPhase 15286740-88-13821
Synonyms:
(+-)-Ketamine
(+/-)-2-(2-Chlorophenyl)-2-(methylamino)cyclohexanone
(+/-)-2-(o-Chlorophenyl)-2-(methylamino)cyclohexanone
(+/-)-Ketamine
(-)-Ketamine
(S)-(-)-Ketamine
(S)-Ketamine
(±)-ketamine
100477-72-3
2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone
2-(2-Chlorophenyl)-2-(methylamino)cyclohexanone
2-(2-chlorophenyl)-2-(methylamino)cyclohexan-1-one
2-(Methylamino)-2-(2-chlorophenyl)cyclohexanone
2-(methylamino)-2-(2-chlorophenyl)cyclohexanone
2-(o-Chlorophenyl)-2-(methylamino)-cyclohexanone
2-(o-Chlorophenyl)-2-(methylamino)cyclohexanone
2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone
33643-45-7
6740-88-1
79499-51-7
AC1L1GSH
AC1Q40UR
AKOS001053247
BRN 2216965
C07525
C13H16ClNO
CHEBI:138833
CHEBI:6121
CHEMBL742
CI 581 base
CI-581
CID3821
CLSTA 20
Calypsol
Cetamina
Cetamina [INN-Spanish]
Cyclohexanone, 2-(2-chlorophenyl)-2-(methylamino)- (9CI)
Cyclohexanone, 2-(2-chlorophenyl)-2-(methylamino)-, (+-)- (9CI)
Cyclohexanone, 2-(o-chlorophenyl)-2-(methylamino)-, (+/-)- (8CI)
D08098
DB01221
DEA No. 7285
 
DL-ketamine
DivK1c_000217
EINECS 229-804-1
Esketamine
Green
IDI1_000217
KBio1_000217
KETAMINE
KETAMINE HCL
Ketaject
Ketalar
Ketalar base
Ketamina
Ketamine (INN)
Ketamine Base
Ketamine HCL
Ketamine [INN:BAN]
Ketaminum
Ketaminum [INN-Latin]
Ketanest
Ketoject
Ketolar
L-Ketamine
LS-57301
MLS001331674
MolPort-001-838-070
NCGC00159480-02
NCGC00159480-03
NINDS_000217
NMDA
NSC 70151
NSC70151
SMR000238141
Special K
Special K [street name]
Special k
T385
Tekam
Tekam (TN)
UNII-690G0D6V8H
dl-Ketamine
ketamine
l-Ketamine
2Excitatory Amino AcidsPhase 11297
3Neurotransmitter AgentsPhase 117734
4Peripheral Nervous System AgentsPhase 122776
5Excitatory Amino Acid AntagonistsPhase 11282
6Central Nervous System DepressantsPhase 112806
7AnestheticsPhase 19001
8Anesthetics, DissociativePhase 1507
9Anesthetics, GeneralPhase 12787
10Anesthetics, IntravenousPhase 12406
11AnalgesicsPhase 111287

Interventional clinical trials:

idNameStatusNCT IDPhase
1Biomarkers of Fast Acting Therapies in Major DepressionRecruitingNCT02165449Phase 1

Search 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 Hyperostosis26
2 Caffey Disease24 COL1A1

Anatomical Context for Caffey Disease

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MalaCards organs/tissues related to Caffey Disease:

35
Bone, Testes

Animal Models for Caffey Disease or affiliated genes

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MGI Mouse Phenotypes related to Caffey Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6CD36, CD40LG, COL1A1, FAM20C, GALNT3, SLCO2A1
2MP:00053878.0A4GALT, CD36, CD40LG, COL1A1, F3, FAM20C
3MP:00053848.0CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C
4MP:00053978.0CD36, CD40LG, COL1A1, F3, FAM20C, GALNT3
5MP:00053907.9CD36, CD40LG, COL1A1, COL1A2, FAM20C, GALNT3
6MP:00053857.9CD36, CD40LG, COL1A1, COL1A2, F3, GALNT3
7MP:00107687.7A4GALT, CD36, CD40LG, COL1A1, COL1A2, F3
8MP:00053767.2A4GALT, CD36, CD40LG, COL1A1, COL1A2, F3

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:

69
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)SNVPathogenicrs72653170GRCh37Chr 17, 48266269: 48266269
2COL1A1NM_000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866
3COL1A1NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr)SNVLikely pathogenicrs139955975GRCh37Chr 17, 48273298: 48273298
4A4GALTA4GALT, 42C-TSNVPathogenicChr na, -1: -1

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:000558410.3COL1A1, COL1A2
2extracellular spaceGO:00056157.6CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.2COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.2COL1A1, COL1A2
3positive regulation of interleukin-12 productionGO:003273510.0CD36, CD40LG
4regulation of immune responseGO:00507769.5CD40LG, COL1A1, COL1A2
5collagen fibril organizationGO:00301999.5COL1A1, COL1A2
6platelet activationGO:00301689.3CD40LG, COL1A1, COL1A2
7blood coagulationGO:00075968.6CD36, COL1A1, COL1A2, F3

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

idNameGO IDScoreTop Affiliating Genes
1manganese ion bindingGO:00301459.6FAM20C, GALNT3
2platelet-derived growth factor bindingGO:00484079.5COL1A1, COL1A2

Sources for Caffey Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet