CAFFD
MCID: CFF003
MIFTS: 54

Caffey Disease (CAFFD) 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 52 11 23 48 24 25 54 70 12 50 13
Infantile Cortical Hyperostosis 11 23 48 24 25 54 70
Cortical Congenital Hyperostosis 11 68
Hyperostosis Cortical Infantile 48 27
 
Hyperostosis, Cortical, Congenital 39
Caffey-Silverman Syndrome 25
De Toni-Caffey Disease 25
Caffd 70

Characteristics:

Orphanet epidemiological data:

54
caffey disease:
Inheritance: Autosomal dominant; Age of onset: Antenatal,Childhood,Infancy,Neonatal

HPO:

64
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:

OMIM52 114000
Disease Ontology11 DOID:4257
ICD1030 M89.8
MeSH39 D006958
SNOMED-CT62 123258003, 24752008
Orphanet54 ORPHA1310
ICD10 via Orphanet31 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 hyperostosis and cngb3-related stargardt disease 1, and has symptoms including Array, Array and Array. 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 cellular.

NIH Rare Diseases:48 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:70 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.

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.

Wikipedia:71 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

Description from OMIM:52 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 48)
idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis10.4
2cngb3-related stargardt disease 110.2COL1A1, COL1A2
3isolated lissencephaly type 1 without known genetic defects10.2COL1A1, COL1A2
4charcot-marie-tooth neuropathy type 2a10.2COL1A1, COL1A2
5prph2-related retinitis pigmentosa10.2COL1A1, COL1A2
620p13 microdeletion syndrome10.2COL1A1, COL1A2
7epileptic encephalopathy, early infantile, 3610.2COL1A1, COL1A2
8porphyria cutanea tarda10.2COL1A1, COL1A2
9factor xiiia deficiency10.2COL1A1, COL1A2
10osteogenesis imperfecta, type iii10.2COL1A1, COL1A2
11cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.2COL1A1, COL1A2
12autism susceptibility 1610.2COL1A1, COL1A2
13diabetic neuropathy10.2COL1A1, COL1A2
14phyh-related refsum disease10.1CD36, COL1A1, COL1A2
15human herpesvirus 810.1CD36, COL1A1, COL1A2
16long qt syndrome 110.1CD36, COL1A1, COL1A2
17muscle hypertrophy10.1CD36, COL1A1, COL1A2
18xanthinuria10.1CD36, COL1A1, COL1A2
19deafness, autosomal recessive 6110.1CD36, COL1A1, COL1A2
20mental retardation, autosomal recessive 3510.1CD36, COL1A1, COL1A2
21osteogenesis imperfecta, type ii10.1CD36, COL1A1, COL1A2
22ehlers-danlos syndrome, cardiac valvular form10.1CD36, COL1A1, COL1A2
23hemangioma of orbit10.1CD36, CD40LG
24prostatocystitis10.1CD36, COL1A1, COL1A2
25cellulitis10.1
26neuropathy, distal hereditary motor, type iia10.1COL1A1, COL1A2
27gonococcal seminal vesiculitis10.1GALNT3, SLCO2A1
28gastric antral vascular ectasia10.1FAM20C, GALNT3
29splenic flexure cancer10.1COL1A1, COL1A2
30prostatic hypertrophy10.0CD36, F3
31clivus meningioma10.0CD40LG, COL1A1, COL1A2
32freiberg's disease9.9CD40LG, F3
33hereditary endotheliopathy, retinopathy, nephropathy, and stroke9.9CD40LG, F3
34sporotrichosis9.9CD40LG, F3
35agraphia9.9CD36, CD40LG, COL1A1, COL1A2
36chronic inflammatory demyelinating polyneuritis9.9CD40LG, F3
37central congenital hypothyroidism9.9CD40LG, F3
38megaloblastic anemia9.9CD40LG, F3
39epstein-barr virus hepatitis9.9CD40LG, F3
40thrombocytosis9.9
41artery disease9.8CD40LG, F3
42hereditary alpha tryptasemia syndrome9.8CD40LG, F3
43lung combined large cell neuroendocrine carcinoma9.8CD40LG, F3
44down syndrome9.7
45calcinosis9.7
46cervicitis9.7
47central retinal artery occlusion9.7CD40LG, F3
48ceroid lipofuscinosis, neuronal, 118.6A4GALT, CD36, CD40LG, COL1A1, COL1A2, F3

Graphical network of the top 20 diseases related to Caffey Disease:



Diseases related to caffey disease

Symptoms & Phenotypes 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:

 54 64 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry64 54 Occasional (29-5%) HP:0000324
2 proptosis64 54 Occasional (29-5%) HP:0000520
3 behavioral abnormality64 54 Frequent (79-30%) HP:0000708
4 fever64 54 Frequent (79-30%) HP:0001945
5 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
6 scoliosis64 54 Occasional (29-5%) HP:0002650
7 calvarial hyperostosis64 54 Occasional (29-5%) HP:0004490
8 cortical irregularity64 54 Very frequent (99-80%) HP:0005731
9 cortical thickening of long bone diaphyses64 54 Occasional (29-5%) HP:0005791
10 periosteal thickening of long tubular bones64 54 Frequent (79-30%) HP:0006465
11 feeding difficulties in infancy64 54 Occasional (29-5%) HP:0008872
12 increased antibody level in blood64 54 Occasional (29-5%) HP:0010702
13 cellulitis64 54 Very frequent (99-80%) HP:0100658
14 hyperesthesia64 54 Frequent (79-30%) HP:0100963
15 tibial bowing64 HP:0002982

MGI Mouse Phenotypes related to Caffey Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6CD36, CD40LG, COL1A1, FAM20C, GALNT3, SLCO2A1
2MP:00053848.0CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C
3MP:00053978.0CD36, CD40LG, COL1A1, F3, FAM20C, GALNT3
4MP:00053878.0A4GALT, CD36, CD40LG, COL1A1, F3, FAM20C
5MP:00053907.9CD36, CD40LG, COL1A1, COL1A2, FAM20C, GALNT3
6MP:00053857.9CD36, CD40LG, COL1A1, COL1A2, F3, GALNT3
7MP:00053767.2A4GALT, CD36, CD40LG, COL1A1, COL1A2, F3

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 15696740-88-13821
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 HCL
Ketaject
Ketalar
Ketalar base
Ketamina
Ketamine (INN)
Ketamine Base
Ketamine HCL
Ketamine [INN:BAN]
Ketaminum
Ketaminum [INN-Latin]
Ketanest
Ketoject
Ketolar
Kétamine
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]
T385
Tekam
Tekam (TN)
UNII-690G0D6V8H
dl-Ketamine
ketamine
l-Ketamine
2Excitatory Amino AcidsPhase 11362
3Neurotransmitter AgentsPhase 118340
4Peripheral Nervous System AgentsPhase 123689
5Excitatory Amino Acid AntagonistsPhase 11347
6Central Nervous System DepressantsPhase 113403
7AnestheticsPhase 19596
8Anesthetics, DissociativePhase 1544
9Anesthetics, GeneralPhase 12934
10Anesthetics, IntravenousPhase 12538
11AnalgesicsPhase 111733

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 Hyperostosis27
2 Caffey Disease24 COL1A1

Anatomical Context for Caffey Disease

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MalaCards organs/tissues related to Caffey Disease:

36
Bone, Testes

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
Caffey disease in neonatal period: the importance of the family! (23047998)
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
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. (22213629)
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
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). (18704262)
2008
17
Caffey disease with raised immunoglobulin levels and thrombocytosis. (18334802)
2008
18
Infantile cortical hyperostosis (Caffey disease): a review. (18848116)
2008
19
Expanding the phenotypic spectrum of Caffey disease. (17309652)
2007
20
Caffey disease: an unlikely collagenopathy. (15864344)
2005
21
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (15864348)
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
Case report 139. Infantile cortical hyperostosis (Caffey disease). (7008205)
1981
35
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). (7023758)
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:

70
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
3A4GALTA4GALT, 42C-TSNVPathogenic

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:000558410.5COL1A1, COL1A2
2collagen trimerGO:000558110.2CD36, COL1A1, COL1A2
3Golgi apparatusGO:00057948.7A4GALT, CD36, COL1A1, FAM20C, GALNT3
4extracellular spaceGO:00056158.4CD36, CD40LG, COL1A1, COL1A2, F3, FAM20C

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:000156810.4COL1A1, COL1A2
2collagen fibril organizationGO:003019910.4COL1A1, COL1A2
3protein heterotrimerizationGO:007020810.4COL1A1, COL1A2
4positive regulation of interleukin-12 productionGO:003273510.2CD36, CD40LG
5platelet activationGO:00301689.8CD40LG, COL1A1, COL1A2
6skin morphogenesisGO:00435899.8COL1A1, COL1A2
7regulation of immune responseGO:00507769.7CD40LG, COL1A1, COL1A2
8skeletal system developmentGO:00015019.6COL1A1, COL1A2, FAM20C
9blood coagulationGO:00075969.3CD36, COL1A1, COL1A2, F3

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.3COL1A1, COL1A2
2manganese ion bindingGO:003014510.1FAM20C, GALNT3
3protease bindingGO:00020209.0COL1A1, COL1A2, F3

Sources for Caffey Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet