CAFYD
MCID: CFF003
MIFTS: 54

Caffey Disease (CAFYD)

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

Aliases & Classifications for Caffey Disease

MalaCards integrated aliases for Caffey Disease:

Name: Caffey Disease 56 12 74 24 52 25 58 73 13 54 15
Infantile Cortical Hyperostosis 56 12 24 52 25 58 73 36 29 6
Cortical Congenital Hyperostosis 12 71
Hyperostosis, Cortical, Congenital 43
Hyperostosis Cortical Infantile 74
Caffey-Silverman Syndrome 25
De Toni-Caffey Disease 25
Cafyd 56
Caffd 73

Characteristics:

Orphanet epidemiological data:

58
caffey disease
Inheritance: Autosomal dominant; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
caffey disease:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Incomplete penetrance based on family history or molecular genetic testing has been noted [cho et al 2008, kutty et al 2010, prior et al 2012, kitaoka et al 2014]. in a family studied by gensure et al [2005], 19 of 24 individuals with the defining col1a1 pathogenic variant had a clinical history of an episode consistent with caffey disease.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:4257
OMIM 56 114000
KEGG 36 H00613
MeSH 43 D006958
SNOMED-CT 67 24752008
ICD10 32 M89.8
ICD10 via Orphanet 33 M89.8
UMLS via Orphanet 72 C0020497
Orphanet 58 ORPHA1310
UMLS 71 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. The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. In rare cases, skeletal abnormalities can be detected by ultrasound imaging during the last few weeks of development before birth. Lethal prenatal cortical hyperostosis, a more severe disorder that appears earlier in development and is often fatal before or shortly after birth, is sometimes called lethal prenatal Caffey disease; however, it is generally considered to be a separate disorder. For unknown reasons, the swelling and pain associated with Caffey disease typically go away within a few months. Through a normal process called bone remodeling, which replaces old bone tissue with new bone, the excess bone is usually reabsorbed by the body and undetectable on x-ray images by the age of 2. However, if two adjacent bones have fused, they may remain that way, possibly resulting in complications. For example, fused rib bones can lead to curvature of the spine (scoliosis) or limit expansion of the chest, resulting in breathing problems. Most people with Caffey disease have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. In addition, some adults who had Caffey disease in infancy have other abnormalities of the bones and connective tissues, which provide strength and flexibility to structures throughout the body. Affected adults may have loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to protrusion of organs through gaps in muscles (hernias).

MalaCards based summary : Caffey Disease, also known as infantile cortical hyperostosis, is related to ehlers-danlos syndrome and osteogenesis imperfecta, type ii. An important gene associated with Caffey Disease is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone, skin and cortex, and related phenotypes are cellulitis and cortical irregularity

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.

NIH Rare Diseases : 52 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 .

OMIM : 56 Caffey disease is an autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. Painful swelling and systemic fever often accompany the episode, which usually begins before the age of 5 months and resolves before age 2 years. Laboratory findings include an elevated level of alkaline phosphatase and sometimes an elevation in white blood cell count and erythrocyte sedimentation rate. Recurrent episodes are uncommon (summary by Gensure et al., 2005). (114000)

KEGG : 36 Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ribs. It usually affects infants less than 6 months of age and spontaneously heals in the first year of life. However severe prenatal form of ICH is lethal in which extensive hyperostosis affects nearly all long bones and the fetus presents with polyhydramnios.

UniProtKB/Swiss-Prot : 73 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 : 74 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

GeneReviews: NBK99168

Related Diseases for Caffey Disease

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.6 COL1A2 COL1A1 CD36
2 osteogenesis imperfecta, type ii 30.5 COL1A2 COL1A1 CD36
3 brittle bone disorder 30.5 COL2A1 COL1A2 COL1A1 CD36
4 scoliosis 29.5 COL2A1 COL27A1 COL1A2 COL1A1
5 hyperostosis 10.7
6 osteogenesis imperfecta, type vi 10.5 COL1A2 COL1A1
7 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A2 COL1A1
8 arthrochalasia ehlers-danlos syndrome 10.5 COL1A2 COL1A1
9 col1a1/2 osteogenesis imperfecta 10.5 COL1A2 COL1A1
10 high bone mass osteogenesis imperfecta 10.4 COL1A2 COL1A1
11 larsen-like syndrome 10.4 COL1A2 COL1A1
12 type i ehlers-danlos syndrome 10.4 COL1A2 COL1A1
13 classic ehlers-danlos syndrome 10.4 COL1A2 COL1A1
14 gliofibroma 10.4 COL1A2 COL1A1
15 ehlers-danlos syndrome, classic type, 1 10.4 COL1A2 COL1A1
16 diffuse scleroderma 10.3 COL1A2 COL1A1
17 scleroderma, familial progressive 10.3 COL1A2 COL1A1 CD36
18 osteogenesis imperfecta, type i 10.3 COL1A2 COL1A1 CD36
19 synovial chondromatosis 10.3 COL2A1 COL1A1
20 osteogenesis imperfecta, type v 10.3 COL1A2 COL1A1 CD36
21 osteogenesis imperfecta, type vii 10.3 COL1A2 COL1A1 CD36
22 bruck syndrome 10.3 COL1A2 COL1A1 CD36
23 osteoporosis, juvenile 10.3 COL1A2 COL1A1 CD36
24 pelvic organ prolapse 10.3 COL1A2 COL1A1 CD36
25 osteogenesis imperfecta, type iv 10.3 COL1A2 COL1A1 CD36
26 tympanosclerosis 10.3 COL2A1 COL1A1
27 x-linked alport syndrome 10.3 COL1A2 COL1A1
28 otosclerosis 10.2 COL1A2 COL1A1 CD36
29 cole-carpenter syndrome 10.2 COL1A2 COL1A1
30 osteomyelitis 10.2
31 bone structure disease 10.2 COL2A1 COL1A2 COL1A1
32 wiskott-aldrich syndrome 10.2
33 exophthalmos 10.2
34 erb's palsy 10.2
35 osteogenesis imperfecta, type iii 10.1 FAM20C COL1A2 COL1A1 CD36
36 thrombocytosis 10.1
37 polyhydramnios 10.1
38 fibrogenesis imperfecta ossium 10.1 TCIRG1 COL1A2 COL1A1
39 marfan syndrome 10.0 COL2A1 COL1A2 COL1A1 CD36
40 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL2A1 COL11A2
41 bone remodeling disease 10.0 TCIRG1 COL1A2 COL1A1
42 otospondylomegaepiphyseal dysplasia 10.0 COL2A1 COL11A2
43 kohler's disease 10.0 COL2A1 COL11A2
44 pyle disease 10.0 LRRK1 DYM COL2A1
45 camurati-engelmann disease 10.0
46 torticollis 10.0
47 cystic fibrosis 10.0
48 dysosteosclerosis 10.0
49 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
50 aplastic anemia 10.0

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



Diseases related to Caffey Disease

Symptoms & Phenotypes for Caffey Disease

Human phenotypes related to Caffey Disease:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cellulitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100658
2 cortical irregularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005731
3 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
4 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
5 periosteal thickening of long tubular bones 58 31 frequent (33%) Frequent (79-30%) HP:0006465
6 hyperesthesia 58 31 frequent (33%) Frequent (79-30%) HP:0100963
7 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
8 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
9 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
10 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
11 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
12 increased antibody level in blood 58 31 occasional (7.5%) Occasional (29-5%) HP:0010702
13 calvarial hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004490
14 cortical thickening of long bone diaphyses 58 31 occasional (7.5%) Occasional (29-5%) HP:0005791
15 tibial bowing 31 HP:0002982

Symptoms via clinical synopsis from OMIM:

56
Misc:
fever
usually appears by 5 months of age
specific bones involved different in familial and sporadic cases

Limbs:
mild congenital leg curvature

Lab:
thickened periosteum and infiltration of the deeper layers of the periosteum with round cells

Skel:
hot, tender swelling of involved bones (e.g., mandible, ribs)

Radiology:
identified by x-ray in the fetus in utero
cortical hyperostosis
curved tibia
irregularity of bone cortex

Clinical features from OMIM:

114000

MGI Mouse Phenotypes related to Caffey Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 A4GALT CD36 COL11A2 COL1A1 COL1A2 COL2A1
2 cellular MP:0005384 10.02 CD36 COL1A1 COL1A2 COL2A1 CREB3L4 DCBLD2
3 growth/size/body region MP:0005378 9.93 CD36 COL11A2 COL1A1 COL1A2 COL27A1 COL2A1
4 craniofacial MP:0005382 9.86 COL11A2 COL1A1 COL27A1 COL2A1 DYM FAM20C
5 limbs/digits/tail MP:0005371 9.61 COL1A1 COL1A2 COL27A1 COL2A1 DYM FAM20C
6 skeleton MP:0005390 9.47 CD36 COL11A2 COL1A1 COL1A2 COL27A1 COL2A1

Drugs & Therapeutics for Caffey Disease

Search Clinical Trials , NIH Clinical Center for Caffey Disease

Cochrane evidence based reviews: hyperostosis, cortical, congenital

Genetic Tests for Caffey Disease

Genetic tests related to Caffey Disease:

# Genetic test Affiliating Genes
1 Infantile Cortical Hyperostosis 29 COL1A1

Anatomical Context for Caffey Disease

MalaCards organs/tissues related to Caffey Disease:

40
Bone, Skin, Cortex, Testes, Myeloid, Bone Marrow, Lung

Publications for Caffey Disease

Articles related to Caffey Disease:

(show top 50) (show all 362)
# Title Authors PMID Year
1
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. 54 61 24 56 6
15864348 2005
2
Prenatal cortical hyperostosis with COL1A1 gene mutation. 61 24 56 6
18553566 2008
3
Expanding the phenotypic spectrum of Caffey disease. 61 24 56 6
17309652 2007
4
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). 61 24 56
8588573 1995
5
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. 61 24 56
1359527 1992
6
Caffey Disease 61 6
22855962 2012
7
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). 54 61 24
18704262 2008
8
Familial infantile cortical hyperostosis in a large Canadian family. 61 56
6370402 1984
9
Familial infantile cortical hyperostosis. 61 56
6357801 1983
10
Familial infantile cortical hyperostosis: an update. 61 56
6787897 1981
11
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). 61 56
7023758 1981
12
Letter: Infantile cortical hyperostosis--familial occurrence in a mother and daughter. 61 56
1097622 1975
13
Infantile cortical hyperostosis associated with thrombocythaemia. 61 56
4183907 1969
14
Late manifestations of infantile cortical hyperostosis (Caffey's disease). 61 56
5334797 1967
15
The familial occurrence of infantile cortical hyperostosis. 61 56
14021697 1963
16
Infantile cortical hyperostosis: a review. 61 56
13908496 1962
17
Familial infantile cortical hyperostosis. 61 56
13898040 1961
18
Infantile cortical hyperostosis. 61 56
13775121 1961
19
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature. 61 24
24390061 2014
20
Recurrence of infantile cortical hyperostosis: a case report and review of the literature. 61 24
23389580 2013
21
Caffey disease in neonatal period: the importance of the family! 61 24
23047998 2012
22
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. 61 24
22213629 2012
23
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. 61 24
22080299 2012
24
Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia]. 61 24
21726971 2012
25
Infantile cortical hyperostosis and COL1A1 mutation in four generations. 61 24
21567126 2011
26
COL1A1 mutation in an Indian child with Caffey disease. 61 24
21249479 2011
27
Prenatal Caffey disease. 61 24
21443040 2011
28
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. 6
20971946 2011
29
Caffey disease. 61 24
20967539 2010
30
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. 61 24
20890006 2010
31
Caffey disease or infantile cortical hyperostosis: a case report. 61 24
22125716 2010
32
Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature. 61 24
19203363 2009
33
Infantile cortical hyperostosis (Caffey disease): a review. 61 24
18848116 2008
34
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 61 24
17211858 2007
35
Infantile cortical hyperostosis of the mandible. 61 24
15372912 2004
36
Caffey disease in a 6-month-old girl. 61 24
14735359 2004
37
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. 61 24
12884437 2003
38
Prenatal cortical hyperostosis (Caffey disease). 61 24
12422848 2002
39
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). 61 24
11827425 2001
40
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. 61 24
9267903 1997
41
A case of recurrent Caffey's disease treated with naproxen. 61 24
8625597 1996
42
John Caffey and his contributions to radiology. 56
7824734 1995
43
Familial Caffey's disease and late recurrence in a child. 56
1756606 1991
44
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. 61 24
3526563 1986
45
Case report 139. Infantile cortical hyperostosis (Caffey disease). 61 24
7008205 1981
46
Cortical hyperostosis. Infantile and juvenile manifestations in a boy. 56
4935623 1971
47
Infantile cortical hyperostosis; a review of the clinical and radiographic features. 61 24
13431894 1957
48
Timing, rates and spectra of human germline mutation. 24
26656846 2016
49
Dysphagia and hypervitaminosis A: cervical hyperostosis. 24
19289294 2009
50
A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 24
18322299 2008

Variations for Caffey Disease

ClinVar genetic disease variations for Caffey Disease:

6 (show top 50) (show all 100) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)SNV Pathogenic 17347 rs72653170 17:48266269-48266269 17:50188908-50188908
2 A4GALT NM_017436.7(A4GALT):c.42C>T (p.Gly14=)SNV Pathogenic 39436 rs778598915 22:43089916-43089916 22:42693910-42693910
3 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
4 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
5 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)SNV Pathogenic 17312 rs72645357 17:48273524-48273524 17:50196163-50196163
6 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)SNV Pathogenic 425597 rs72648326 17:48272649-48272649 17:50195288-50195288
7 COL1A1 NM_000088.3(COL1A1):c.1299+1G>ASNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231
8 COL1A1 NM_000088.3(COL1A1):c.1821+1G>ASNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
9 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)SNV Pathogenic/Likely pathogenic 450546 rs1555574303 17:48273533-48273533 17:50196172-50196172
10 COL1A1 NM_000088.3(COL1A1):c.334-5C>ASNV Conflicting interpretations of pathogenicity 324119 rs115997082 17:48276819-48276819 17:50199458-50199458
11 COL1A1 NM_000088.3(COL1A1):c.3424-6C>ASNV Conflicting interpretations of pathogenicity 324101 rs370865189 17:48264489-48264489 17:50187128-50187128
12 COL1A1 NM_000088.3(COL1A1):c.1002+10G>TSNV Conflicting interpretations of pathogenicity 324114 rs368316440 17:48273506-48273506 17:50196145-50196145
13 COL1A1 NM_000088.3(COL1A1):c.627C>T (p.Gly209=)SNV Conflicting interpretations of pathogenicity 324117 rs201136122 17:48275325-48275325 17:50197964-50197964
14 COL1A1 NM_000088.3(COL1A1):c.528C>T (p.Ser176=)SNV Conflicting interpretations of pathogenicity 324118 rs748856187 17:48275809-48275809 17:50198448-50198448
15 COL1A1 NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=)SNV Conflicting interpretations of pathogenicity 281778 rs1800219 17:48263208-48263208 17:50185847-50185847
16 COL1A1 NM_000088.3(COL1A1):c.2595C>T (p.Arg865=)SNV Conflicting interpretations of pathogenicity 35915 rs117672175 17:48267238-48267238 17:50189877-50189877
17 COL1A1 NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr)SNV Conflicting interpretations of pathogenicity 196007 rs149561221 17:48270160-48270160 17:50192799-50192799
18 COL1A1 NM_000088.3(COL1A1):c.*243_*244dupduplication Conflicting interpretations of pathogenicity 324088 rs56302025 17:48262618-48262619 17:50185257-50185258
19 COL1A1 NM_000088.3(COL1A1):c.3815-12G>TSNV Conflicting interpretations of pathogenicity 324098 rs201066018 17:48263880-48263880 17:50186519-50186519
20 COL1A1 NM_000088.3(COL1A1):c.1983+9G>TSNV Conflicting interpretations of pathogenicity 324109 rs201091992 17:48269827-48269827 17:50192466-50192466
21 COL1A1 NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala)SNV Conflicting interpretations of pathogenicity 324108 rs1800214 17:48267454-48267454 17:50190093-50190093
22 COL1A1 NM_000088.3(COL1A1):c.3099+7T>CSNV Conflicting interpretations of pathogenicity 324105 rs201682029 17:48266096-48266096 17:50188735-50188735
23 COL1A1 NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile)SNV Conflicting interpretations of pathogenicity 324103 rs575285203 17:48265929-48265929 17:50188568-50188568
24 COL1A1 NM_000088.3(COL1A1):c.1233C>T (p.Phe411=)SNV Conflicting interpretations of pathogenicity 324113 rs776387246 17:48272659-48272659 17:50195298-50195298
25 COL1A1 NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly)SNV Uncertain significance 324110 rs886053161 17:48270020-48270020 17:50192659-50192659
26 COL1A1 NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser)SNV Uncertain significance 324106 rs756337302 17:48266824-48266824 17:50189463-50189463
27 COL1A1 NM_000088.3(COL1A1):c.*1324A>GSNV Uncertain significance 324054 rs886053140 17:48261539-48261539 17:50184178-50184178
28 COL1A1 NM_000088.3(COL1A1):c.-115G>ASNV Uncertain significance 324132 rs886053164 17:48278989-48278989 17:50201628-50201628
29 COL1A1 NM_000088.3(COL1A1):c.*714C>TSNV Uncertain significance 324074 rs567392981 17:48262149-48262149 17:50184788-50184788
30 COL1A1 NM_000088.3(COL1A1):c.*1007_*1008deldeletion Uncertain significance 324067 rs886053144 17:48261855-48261856 17:50184494-50184495
31 COL1A1 NM_000088.3(COL1A1):c.*1027deldeletion Uncertain significance 324066 rs878912123 17:48261836-48261836 17:50184475-50184475
32 COL1A1 NM_000088.3(COL1A1):c.*1029_*1031deldeletion Uncertain significance 324063 rs886053143 17:48261832-48261834 17:50184471-50184473
33 COL1A1 NM_000088.3(COL1A1):c.*1030_*1031deldeletion Uncertain significance 324062 rs886053142 17:48261832-48261833 17:50184471-50184472
34 COL1A1 NM_000088.3(COL1A1):c.*1384_*1387deldeletion Uncertain significance 324053 rs886053139 17:48261476-48261479 17:50184115-50184118
35 COL1A1 NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His)SNV Uncertain significance 324096 rs886053159 17:48263247-48263247 17:50185886-50185886
36 COL1A1 NM_000088.3(COL1A1):c.*194G>ASNV Uncertain significance 324092 rs886053158 17:48262669-48262669 17:50185308-50185308
37 COL1A1 NM_000088.3(COL1A1):c.*245deldeletion Uncertain significance 324087 rs886053156 17:48262618-48262618 17:50185257-50185257
38 COL1A1 NM_000088.3(COL1A1):c.*255dupduplication Uncertain significance 324084 rs886053153 17:48262607-48262608 17:50185246-50185247
39 COL1A1 NM_000088.3(COL1A1):c.*259_*260insATinsertion Uncertain significance 324081 rs886053151 17:48262603-48262604 17:50185242-50185243
40 COL1A1 NM_000088.3(COL1A1):c.*378C>GSNV Uncertain significance 324080 rs148131473 17:48262485-48262485 17:50185124-50185124
41 COL1A1 NM_000088.3(COL1A1):c.*623G>ASNV Uncertain significance 324078 rs886053149 17:48262240-48262240 17:50184879-50184879
42 COL1A1 NM_000088.3(COL1A1):c.*202A>GSNV Uncertain significance 324091 rs564917505 17:48262661-48262661 17:50185300-50185300
43 COL1A1 NM_000088.3(COL1A1):c.*251dupduplication Uncertain significance 324085 rs886053154 17:48262611-48262612 17:50185250-50185251
44 COL1A1 NM_000088.3(COL1A1):c.*437A>CSNV Uncertain significance 324079 rs886053150 17:48262426-48262426 17:50185065-50185065
45 COL1A1 NM_000088.3(COL1A1):c.*733G>ASNV Uncertain significance 324073 rs886053148 17:48262130-48262130 17:50184769-50184769
46 COL1A1 NM_000088.3(COL1A1):c.*1026_*1028deldeletion Uncertain significance 324065 rs751268781 17:48261835-48261837 17:50184474-50184476
47 COL1A1 NM_000088.3(COL1A1):c.*1087C>TSNV Uncertain significance 324060 rs557843360 17:48261776-48261776 17:50184415-50184415
48 COL1A1 NM_000088.3(COL1A1):c.*1165C>GSNV Uncertain significance 324059 rs149419718 17:48261698-48261698 17:50184337-50184337
49 COL1A1 NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala)SNV Uncertain significance 324102 rs767525556 17:48265485-48265485 17:50188124-50188124
50 COL1A1 NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile)SNV Uncertain significance 324095 rs138557594 17:48262886-48262886 17:50185525-50185525

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

73
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Arg1014Cys VAR_033097 rs72653170

Expression for Caffey Disease

Search GEO for disease gene expression data for Caffey Disease.

Pathways for Caffey Disease

Pathways related to Caffey Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 CREB3L4 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
2
Show member pathways
12.71 TCIRG1 CREB3L4 COL2A1 COL1A2 COL1A1
3
Show member pathways
12.63 CREB3L4 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
4
Show member pathways
12.49 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
5
Show member pathways
12.37 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
6
Show member pathways
11.65 COL1A2 COL1A1 CD36
7 11.12 COL2A1 COL1A2 COL1A1
8
Show member pathways
11.12 COL2A1 COL1A2 COL1A1 CD36
9 10.86 COL1A2 COL1A1
10 10.84 COL1A2 COL1A1 CD36
11 10.73 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2

GO Terms for Caffey Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 FAM20C COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
2 collagen-containing extracellular matrix GO:0062023 9.72 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
3 extracellular matrix GO:0031012 9.55 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
4 endoplasmic reticulum lumen GO:0005788 9.43 FAM20C COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
5 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1
6 collagen trimer GO:0005581 9.1 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2 CD36

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.7 COL2A1 COL1A1 COL11A2
2 ossification GO:0001503 9.65 TCIRG1 COL2A1 COL1A1
3 endochondral ossification GO:0001958 9.55 COL2A1 COL1A1
4 extracellular matrix organization GO:0030198 9.55 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
5 bone resorption GO:0045453 9.54 TCIRG1 LRRK1
6 tissue homeostasis GO:0001894 9.51 COL2A1 COL11A2
7 phosphate ion transmembrane transport GO:0035435 9.49 SLC37A4 SLC37A2
8 enamel mineralization GO:0070166 9.46 TCIRG1 FAM20C
9 skin morphogenesis GO:0043589 9.43 COL1A2 COL1A1
10 skeletal system morphogenesis GO:0048705 9.43 COL2A1 COL1A1 COL11A2
11 tooth eruption GO:0044691 9.4 TCIRG1 COL1A1
12 glucose-6-phosphate transport GO:0015760 9.37 SLC37A4 SLC37A2
13 skeletal system development GO:0001501 9.35 FAM20C COL2A1 COL1A2 COL1A1 COL11A2
14 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.32 COL2A1 COL1A1
15 collagen fibril organization GO:0030199 8.92 COL2A1 COL1A2 COL1A1 COL11A2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.35 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2
2 platelet-derived growth factor binding GO:0048407 9.33 COL2A1 COL1A2 COL1A1
3 glucose 6-phosphate:inorganic phosphate antiporter activity GO:0061513 9.26 SLC37A4 SLC37A2
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL2A1 COL27A1 COL1A2 COL1A1 COL11A2

Sources for Caffey Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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