CAFFD
MCID: CFF003
MIFTS: 54

Caffey Disease (CAFFD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Caffey Disease

Aliases & Descriptions for Caffey Disease:

Name: Caffey Disease 54 12 23 50 24 25 56 66 13 52 14
Infantile Cortical Hyperostosis 12 23 50 24 25 56 66
Cortical Congenital Hyperostosis 12 69
Hyperostosis Cortical Infantile 50 29
Hyperostosis, Cortical, Congenital 42
Caffey-Silverman Syndrome 25
De Toni-Caffey Disease 25
Caffd 66

Characteristics:

Orphanet epidemiological data:

56
caffey disease
Inheritance: Autosomal dominant; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

GeneReviews:

23
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:

OMIM 54 114000
Disease Ontology 12 DOID:4257
ICD10 33 M89.8
MeSH 42 D006958
SNOMED-CT 64 123258003 24752008
Orphanet 56 ORPHA1310
ICD10 via Orphanet 34 M89.8
UMLS 69 C0020497

Summaries for Caffey Disease

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 soft-tissue swelling, bone lesions and irritability. An important gene associated with Caffey Disease is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are ECM-receptor interaction and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Ketamine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related phenotypes are cardiovascular system and cellular

NIH Rare Diseases : 50 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 : 66 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 : 12 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: 114000
GeneReviews: NBK99168

Related Diseases for Caffey Disease

Diseases related to Caffey Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
id Related Disease Score Top Affiliating Genes
1 hyperostosis 10.4
2 cngb3-related stargardt disease 1 10.2 COL1A1 COL1A2
3 isolated lissencephaly type 1 without known genetic defects 10.2 COL1A1 COL1A2
4 charcot-marie-tooth neuropathy type 2a 10.2 COL1A1 COL1A2
5 prph2-related retinitis pigmentosa 10.2 COL1A1 COL1A2
6 20p13 microdeletion syndrome 10.2 COL1A1 COL1A2
7 epileptic encephalopathy, early infantile, 36 10.2 COL1A1 COL1A2
8 porphyria cutanea tarda 10.2 COL1A1 COL1A2
9 factor xiiia deficiency 10.2 COL1A1 COL1A2
10 osteogenesis imperfecta, type iii 10.2 COL1A1 COL1A2
11 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.2 COL1A1 COL1A2
12 autism susceptibility 16 10.2 COL1A1 COL1A2
13 diabetic neuropathy 10.2 COL1A1 COL1A2
14 phyh-related refsum disease 10.1 CD36 COL1A1 COL1A2
15 human herpesvirus 8 10.1 CD36 COL1A1 COL1A2
16 long qt syndrome 1 10.1 CD36 COL1A1 COL1A2
17 muscle hypertrophy 10.1 CD36 COL1A1 COL1A2
18 xanthinuria 10.1 CD36 COL1A1 COL1A2
19 deafness, autosomal recessive 61 10.1 CD36 COL1A1 COL1A2
20 mental retardation, autosomal recessive 35 10.1 CD36 COL1A1 COL1A2
21 osteogenesis imperfecta, type ii 10.1 CD36 COL1A1 COL1A2
22 ehlers-danlos syndrome, cardiac valvular form 10.1 CD36 COL1A1 COL1A2
23 hemangioma of orbit 10.1 CD36 CD40LG
24 prostatocystitis 10.1 CD36 COL1A1 COL1A2
25 cellulitis 10.1
26 neuropathy, distal hereditary motor, type iia 10.1 COL1A1 COL1A2
27 gonococcal seminal vesiculitis 10.1 GALNT3 SLCO2A1
28 gastric antral vascular ectasia 10.1 FAM20C GALNT3
29 splenic flexure cancer 10.1 COL1A1 COL1A2
30 prostatic hypertrophy 10.0 CD36 F3
31 clivus meningioma 10.0 CD40LG COL1A1 COL1A2
32 freiberg's disease 9.9 CD40LG F3
33 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 9.9 CD40LG F3
34 sporotrichosis 9.9 CD40LG F3
35 agraphia 9.9 CD36 CD40LG COL1A1 COL1A2
36 chronic inflammatory demyelinating polyneuritis 9.9 CD40LG F3
37 central congenital hypothyroidism 9.9 CD40LG F3
38 megaloblastic anemia 9.9 CD40LG F3
39 epstein-barr virus hepatitis 9.9 CD40LG F3
40 thrombocytosis 9.9
41 artery disease 9.8 CD40LG F3
42 hereditary alpha tryptasemia syndrome 9.8 CD40LG F3
43 lung combined large cell neuroendocrine carcinoma 9.8 CD40LG F3
44 cervicitis 9.7
45 down syndrome 9.7
46 calcinosis 9.7
47 central retinal artery occlusion 9.7 CD40LG F3
48 ceroid lipofuscinosis, neuronal, 11 8.6 A4GALT 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

Symptoms by clinical synopsis from OMIM:

114000

Clinical features from OMIM:

114000

Symptoms:

12
  • soft-tissue swelling
  • bone lesions
  • irritability

Human phenotypes related to Caffey Disease:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Frequent (79-30%) HP:0001945
2 hyperesthesia 56 32 Frequent (79-30%) HP:0100963
3 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
4 scoliosis 56 32 Occasional (29-5%) HP:0002650
5 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
6 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
7 cellulitis 56 32 Very frequent (99-80%) HP:0100658
8 proptosis 56 32 Occasional (29-5%) HP:0000520
9 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
10 calvarial hyperostosis 56 32 Occasional (29-5%) HP:0004490
11 cortical irregularity 56 32 Very frequent (99-80%) HP:0005731
12 cortical thickening of long bone diaphyses 56 32 Occasional (29-5%) HP:0005791
13 periosteal thickening of long tubular bones 56 32 Frequent (79-30%) HP:0006465
14 increased antibody level in blood 56 32 Occasional (29-5%) HP:0010702
15 tibial bowing 32 HP:0002982

MGI Mouse Phenotypes related to Caffey Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 CD36 CD40LG COL1A1 COL1A2 F3 GALNT3
2 cellular MP:0005384 9.91 CD36 CD40LG COL1A1 COL1A2 F3 FAM20C
3 homeostasis/metabolism MP:0005376 9.91 A4GALT CD36 CD40LG COL1A1 COL1A2 F3
4 hematopoietic system MP:0005397 9.87 F3 FAM20C GALNT3 SCARF2 CD36 CD40LG
5 immune system MP:0005387 9.7 A4GALT CD36 CD40LG COL1A1 F3 FAM20C
6 renal/urinary system MP:0005367 9.43 CD36 CD40LG COL1A1 FAM20C GALNT3 SLCO2A1
7 skeleton MP:0005390 9.1 CD36 CD40LG COL1A1 COL1A2 FAM20C GALNT3

Drugs & Therapeutics for Caffey Disease

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 1 6740-88-1 3821
2 Analgesics Phase 1
3 Neurotransmitter Agents Phase 1
4 Anesthetics Phase 1
5 Anesthetics, Dissociative Phase 1
6 Anesthetics, General Phase 1
7 Anesthetics, Intravenous Phase 1
8 Peripheral Nervous System Agents Phase 1
9 Excitatory Amino Acid Antagonists Phase 1
10 Excitatory Amino Acids Phase 1
11 Central Nervous System Depressants Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Biomarkers of Fast Acting Therapies in Major Depression Recruiting NCT02165449 Phase 1

Search NIH Clinical Center for Caffey Disease

Cochrane evidence based reviews: hyperostosis, cortical, congenital

Genetic Tests for Caffey Disease

Genetic tests related to Caffey Disease:

id Genetic test Affiliating Genes
1 Infantile Cortical Hyperostosis 29
2 Caffey Disease 24 COL1A1

Anatomical Context for Caffey Disease

MalaCards organs/tissues related to Caffey Disease:

39
Bone, Testes

Publications for Caffey Disease

Articles related to Caffey Disease:

(show all 38)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Caffey Disease:

66
id Symbol AA change Variation ID SNP ID
1 COL1A1 p.Arg1014Cys VAR_033097

ClinVar genetic disease variations for Caffey Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh37 Chromosome 17, 48266269: 48266269
2 A4GALT A4GALT, 42C-T single nucleotide variant Pathogenic
3 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866

Expression for Caffey Disease

Search GEO for disease gene expression data for Caffey Disease.

Pathways for Caffey Disease

GO Terms for Caffey Disease

Cellular components related to Caffey Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.65 A4GALT CD36 COL1A1 FAM20C GALNT3
2 extracellular space GO:0005615 9.63 CD36 CD40LG COL1A1 COL1A2 F3 FAM20C
3 collagen trimer GO:0005581 9.13 CD36 COL1A1 COL1A2
4 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

id Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.58 CD40LG COL1A1 COL1A2
2 skeletal system development GO:0001501 9.5 COL1A1 COL1A2 FAM20C
3 blood vessel development GO:0001568 9.46 COL1A1 COL1A2
4 collagen fibril organization GO:0030199 9.43 COL1A1 COL1A2
5 platelet activation GO:0030168 9.43 CD40LG COL1A1 COL1A2
6 positive regulation of interleukin-12 production GO:0032735 9.37 CD36 CD40LG
7 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
8 skin morphogenesis GO:0043589 8.96 COL1A1 COL1A2
9 blood coagulation GO:0007596 8.92 CD36 COL1A1 COL1A2 F3

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

id Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 9.16 FAM20C GALNT3
2 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL1A2
3 protease binding GO:0002020 8.8 COL1A1 COL1A2 F3

Sources for Caffey Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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