CAFFD
MCID: CFF003
MIFTS: 54

Caffey Disease (CAFFD)

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 57 12 75 24 53 25 59 74 13 55 15
Infantile Cortical Hyperostosis 57 12 24 53 25 59 74 37 29 6
Cortical Congenital Hyperostosis 12 72
Hyperostosis, Cortical, Congenital 44
Hyperostosis Cortical Infantile 75
Caffey-Silverman Syndrome 25
De Toni-Caffey Disease 25
Caffd 74

Characteristics:

Orphanet epidemiological data:

59
caffey disease
Inheritance: Autosomal dominant; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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:



External Ids:

Disease Ontology 12 DOID:4257
OMIM 57 114000
KEGG 37 H00613
MeSH 44 D006958
SNOMED-CT 68 24752008
ICD10 33 M89.8
ICD10 via Orphanet 34 M89.8
UMLS via Orphanet 73 C0020497
Orphanet 59 ORPHA1310
UMLS 72 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 brittle bone disorder 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 ECM-receptor interaction and NAD metabolism. Affiliated tissues include bone, skin and testes, 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 : 53 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.

KEGG : 37
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 : 74 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 : 75 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

More information 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 top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 30.8 COL1A2 COL1A1 CD36
2 osteogenesis imperfecta, type ii 30.0 COL1A2 COL1A1 CD36 ALPL
3 bone disease 29.8 COL1A1 CD36 ALPP ALPL
4 hyperostosis 10.7
5 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A2 COL1A1
6 ehlers-danlos syndrome, classic type, 2 10.6 COL1A1 CD36
7 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1
8 osteogenesis imperfecta, type viii 10.5 COL1A2 COL1A1
9 larsen-like syndrome 10.5 COL1A2 COL1A1
10 classic ehlers-danlos syndrome 10.5 COL1A2 COL1A1
11 osteoporosis, juvenile 10.4 COL1A1 CD36
12 ehlers-danlos syndrome, classic type, 1 10.4 COL1A2 COL1A1
13 osteogenesis imperfecta, type i 10.4 COL1A2 COL1A1 CD36
14 osteogenesis imperfecta, type vii 10.3 COL1A2 COL1A1 CD36
15 osteogenesis imperfecta, type v 10.3 COL1A2 COL1A1 CD36
16 scleroderma, familial progressive 10.3 COL1A2 COL1A1 CD36
17 osteogenesis imperfecta, type iv 10.3 COL1A2 COL1A1 CD36
18 tick infestation 10.3 ALPP ALPL
19 osteogenesis imperfecta, type iii 10.3 COL1A2 COL1A1 CD36
20 bruck syndrome 10.3 COL1A2 COL1A1 CD36
21 prostatic hypertrophy 10.3 CD36 ALPP
22 hypophosphatasia, infantile 10.3 ALPP ALPL
23 hypophosphatasia 10.3 ALPP ALPL
24 qualitative platelet defect 10.3 F3 CD36
25 col1a1/2-related osteogenesis imperfecta 10.2
26 wiskott-aldrich syndrome 10.2
27 exophthalmos 10.2
28 erb's palsy 10.2
29 heparin-induced thrombocytopenia 10.1 F3 CD40LG
30 fournier gangrene 10.1 F3 CD40LG
31 otosclerosis 10.1 COL1A2 COL1A1
32 osteomyelitis 10.1
33 ehlers-danlos syndrome 10.1
34 thrombocytosis 10.1
35 polyhydramnios 10.1
36 dysgerminoma of ovary 10.1 CD40LG ALPP
37 von willebrand disease, type 2 10.1 F3 CD36
38 catastrophic antiphospholipid syndrome 10.1 F3 CD40LG
39 pfeiffer syndrome 10.1 COL1A1 CD40LG ALPL
40 camurati-engelmann disease 10.0
41 torticollis 10.0
42 cystic fibrosis 10.0
43 dysosteosclerosis 10.0
44 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
45 aplastic anemia 10.0
46 osteomyelitis, sterile multifocal, with periostitis and pustulosis 10.0
47 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
48 deficiency anemia 10.0
49 pulmonary hypertension 10.0
50 fibrous dysplasia 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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cellulitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100658
2 cortical irregularity 59 32 hallmark (90%) Very frequent (99-80%) HP:0005731
3 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
4 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
5 periosteal thickening of long tubular bones 59 32 frequent (33%) Frequent (79-30%) HP:0006465
6 hyperesthesia 59 32 frequent (33%) Frequent (79-30%) HP:0100963
7 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
8 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
9 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
10 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
11 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
12 calvarial hyperostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004490
13 cortical thickening of long bone diaphyses 59 32 occasional (7.5%) Occasional (29-5%) HP:0005791
14 increased antibody level in blood 59 32 occasional (7.5%) Occasional (29-5%) HP:0010702
15 tibial bowing 32 HP:0002982

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 AHSG ALPG ALPI ALPL CD36 COL1A1
2 homeostasis/metabolism MP:0005376 10.02 A4GALT AHSG ALPI ALPL CD36 CD40LG
3 behavior/neurological MP:0005386 9.95 A4GALT ALPL CD36 COL1A1 COL1A2 F3
4 immune system MP:0005387 9.8 A4GALT ALPL CD36 CD40LG COL1A1 F3
5 limbs/digits/tail MP:0005371 9.63 AHSG ALPL COL1A1 COL1A2 FAM20C SCARF2
6 muscle MP:0005369 9.43 AHSG ALPL CD36 COL1A1 COL1A2 F3
7 skeleton MP:0005390 9.23 AHSG ALPL CD36 CD40LG COL1A1 COL1A2

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:

41
Bone, Skin, Testes, Cortex, Myeloid

Publications for Caffey Disease

Articles related to Caffey Disease:

(show top 50) (show all 360)
# Title Authors PMID Year
1
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. 9 38 4 8 71
15864348 2005
2
Prenatal cortical hyperostosis with COL1A1 gene mutation. 38 4 8 71
18553566 2008
3
Expanding the phenotypic spectrum of Caffey disease. 38 4 8 71
17309652 2007
4
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). 38 4 8
8588573 1995
5
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. 38 4 8
1359527 1992
6
Caffey Disease 38 71
22855962 2012
7
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). 9 38 4
18704262 2008
8
Familial infantile cortical hyperostosis in a large Canadian family. 38 8
6370402 1984
9
Familial infantile cortical hyperostosis. 38 8
6357801 1983
10
Familial infantile cortical hyperostosis: an update. 38 8
6787897 1981
11
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). 38 8
7023758 1981
12
Letter: Infantile cortical hyperostosis--familial occurrence in a mother and daughter. 38 8
1097622 1975
13
Infantile cortical hyperostosis associated with thrombocythaemia. 38 8
4183907 1969
14
Late manifestations of infantile cortical hyperostosis (Caffey's disease). 38 8
5334797 1967
15
The familial occurrence of infantile cortical hyperostosis. 38 8
14021697 1963
16
Infantile cortical hyperostosis: a review. 38 8
13908496 1962
17
Familial infantile cortical hyperostosis. 38 8
13898040 1961
18
Infantile cortical hyperostosis. 38 8
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. 38 4
24390061 2014
20
Recurrence of infantile cortical hyperostosis: a case report and review of the literature. 38 4
23389580 2013
21
Caffey disease in neonatal period: the importance of the family! 38 4
23047998 2012
22
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. 38 4
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. 38 4
22080299 2012
24
Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia]. 38 4
21726971 2012
25
Infantile cortical hyperostosis and COL1A1 mutation in four generations. 38 4
21567126 2011
26
COL1A1 mutation in an Indian child with Caffey disease. 38 4
21249479 2011
27
Prenatal Caffey disease. 38 4
21443040 2011
28
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. 71
20971946 2011
29
Caffey disease. 38 4
20967539 2010
30
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. 38 4
20890006 2010
31
Caffey disease or infantile cortical hyperostosis: a case report. 38 4
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. 38 4
19203363 2009
33
Infantile cortical hyperostosis (Caffey disease): a review. 38 4
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. 38 4
17211858 2007
35
Infantile cortical hyperostosis of the mandible. 38 4
15372912 2004
36
Caffey disease in a 6-month-old girl. 38 4
14735359 2004
37
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. 38 4
12884437 2003
38
Prenatal cortical hyperostosis (Caffey disease). 38 4
12422848 2002
39
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). 38 4
11827425 2001
40
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. 38 4
9267903 1997
41
A case of recurrent Caffey's disease treated with naproxen. 38 4
8625597 1996
42
John Caffey and his contributions to radiology. 8
7824734 1995
43
Familial Caffey's disease and late recurrence in a child. 8
1756606 1991
44
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. 38 4
3526563 1986
45
Case report 139. Infantile cortical hyperostosis (Caffey disease). 38 4
7008205 1981
46
Cortical hyperostosis. Infantile and juvenile manifestations in a boy. 8
4935623 1971
47
Infantile cortical hyperostosis; a review of the clinical and radiographic features. 38 4
13431894 1957
48
Timing, rates and spectra of human germline mutation. 4
26656846 2016
49
Dysphagia and hypervitaminosis A: cervical hyperostosis. 4
19289294 2009
50
A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 4
18322299 2008

Variations for Caffey Disease

ClinVar genetic disease variations for Caffey Disease:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 17:48266269-48266269 17:50188908-50188908
2 A4GALT NM_017436.7(A4GALT): c.42C> T (p.Gly14=) single nucleotide variant Pathogenic 22:43089916-43089916 22:42693910-42693910
3 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 17:48269187-48269187 17:50191826-50191826
4 COL1A1 NM_000088.3(COL1A1): c.2362G> A (p.Gly788Ser) single nucleotide variant Pathogenic rs67879854 17:48267939-48267939 17:50190578-50190578
5 COL1A1 NM_000088.3(COL1A1): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs72648326 17:48272649-48272649 17:50195288-50195288
6 COL1A1 NM_000088.3(COL1A1): c.1299+1G> A single nucleotide variant Pathogenic rs66490707 17:48272592-48272592 17:50195231-50195231
7 COL1A1 NM_000088.3(COL1A1): c.1821+1G> A single nucleotide variant Pathogenic rs66555264 17:48270354-48270354 17:50192993-50192993
8 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 17:48273524-48273524 17:50196163-50196163
9 COL1A1 NM_000088.3(COL1A1): c.985G> C (p.Gly329Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1555574303 17:48273533-48273533 17:50196172-50196172
10 COL1A1 NM_000088.3(COL1A1): c.1983+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201091992 17:48269827-48269827 17:50192466-50192466
11 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 17:48267238-48267238 17:50189877-50189877
12 COL1A1 NM_000088.3(COL1A1): c.1002+10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs368316440 17:48273506-48273506 17:50196145-50196145
13 COL1A1 NM_000088.3(COL1A1): c.627C> T (p.Gly209=) single nucleotide variant Conflicting interpretations of pathogenicity rs201136122 17:48275325-48275325 17:50197964-50197964
14 COL1A1 NM_000088.3(COL1A1): c.528C> T (p.Ser176=) single nucleotide variant Conflicting interpretations of pathogenicity rs748856187 17:48275809-48275809 17:50198448-50198448
15 COL1A1 NM_000088.3(COL1A1): c.1233C> T (p.Phe411=) single nucleotide variant Conflicting interpretations of pathogenicity rs776387246 17:48272659-48272659 17:50195298-50195298
16 COL1A1 NM_000088.3(COL1A1): c.3099+7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201682029 17:48266096-48266096 17:50188735-50188735
17 COL1A1 NM_000088.3(COL1A1): c.3424-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs370865189 17:48264489-48264489 17:50187128-50187128
18 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 17:48270160-48270160 17:50192799-50192799
19 COL1A1 NM_000088.3(COL1A1): c.4179C> T (p.Ser1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800219 17:48263208-48263208 17:50185847-50185847
20 COL1A1 NM_000088.3(COL1A1): c.*243_*244dup duplication Conflicting interpretations of pathogenicity rs56302025 17:48262619-48262620 17:50185258-50185259
21 COL1A1 NM_000088.3(COL1A1): c.334-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs115997082 17:48276819-48276819 17:50199458-50199458
22 COL1A1 NM_000088.3(COL1A1): c.-78_-77delinsAA indel Uncertain significance rs886053163 17:48278951-48278952 17:50201590-50201591
23 COL1A1 NM_000088.3(COL1A1): c.1375C> A (p.Pro459Thr) single nucleotide variant Uncertain significance rs751299130 17:48272168-48272168 17:50194807-50194807
24 COL1A1 NM_000088.3(COL1A1): c.4196G> A (p.Arg1399His) single nucleotide variant Uncertain significance rs146035171 17:48263191-48263191 17:50185830-50185830
25 COL1A1 NM_000088.3(COL1A1): c.*215del deletion Uncertain significance rs886053157 17:48262648-48262648 17:50185287-50185287
26 COL1A1 NM_000088.3(COL1A1): c.*21G> C single nucleotide variant Uncertain significance rs201085309 17:48262842-48262842 17:50185481-50185481
27 COL1A1 NM_000088.3(COL1A1): c.4092G> A (p.Gln1364=) single nucleotide variant Uncertain significance rs886053160 17:48263295-48263295 17:50185934-50185934
28 COL1A1 NM_000088.3(COL1A1): c.3815-12G> T single nucleotide variant Uncertain significance rs201066018 17:48263880-48263880 17:50186519-50186519
29 COL1A1 NM_000088.3(COL1A1): c.*1205C> G single nucleotide variant Uncertain significance rs551536386 17:48261658-48261658 17:50184297-50184297
30 COL1A1 NM_000088.3(COL1A1): c.*998_*999del deletion Uncertain significance rs886053145 17:48261864-48261865 17:50184503-50184504
31 COL1A1 NM_000088.3(COL1A1): c.*981G> C single nucleotide variant Uncertain significance rs574167621 17:48261882-48261882 17:50184521-50184521
32 COL1A1 NM_000088.3(COL1A1): c.*815A> G single nucleotide variant Uncertain significance rs886053146 17:48262048-48262048 17:50184687-50184687
33 COL1A1 NM_000088.3(COL1A1): c.*795C> T single nucleotide variant Uncertain significance rs886053147 17:48262068-48262068 17:50184707-50184707
34 COL1A1 NM_000088.3(COL1A1): c.*682C> T single nucleotide variant Uncertain significance rs77720683 17:48262181-48262181 17:50184820-50184820
35 COL1A1 NM_000088.3(COL1A1): c.*257_*258dup duplication Uncertain significance rs886053152 17:48262605-48262606 17:50185244-50185245
36 COL1A1 NM_000088.3(COL1A1): c.*258dup duplication Uncertain significance rs886053152 17:48262605-48262605 17:50185244-50185244
37 COL1A1 NM_000088.3(COL1A1): c.*245_*246dup duplication Uncertain significance rs886053155 17:48262617-48262618 17:50185256-50185257
38 COL1A1 NM_000088.3(COL1A1): c.3169G> A (p.Val1057Ile) single nucleotide variant Uncertain significance rs575285203 17:48265929-48265929 17:50188568-50188568
39 COL1A1 NM_000088.3(COL1A1): c.1888G> A (p.Glu630Lys) single nucleotide variant Uncertain significance rs775106436 17:48270042-48270042 17:50192681-50192681
40 COL1A1 NM_000088.3(COL1A1): c.649A> T (p.Met217Leu) single nucleotide variant Uncertain significance rs763409550 17:48275140-48275140 17:50197779-50197779
41 COL1A1 NM_000088.3(COL1A1): c.*1384_*1387del deletion Uncertain significance rs886053139 17:48261476-48261479 17:50184115-50184118
42 COL1A1 NM_000088.3(COL1A1): c.*1030_*1031del deletion Uncertain significance rs886053142 17:48261832-48261833 17:50184471-50184472
43 COL1A1 NM_000088.3(COL1A1): c.*1029_*1031del deletion Uncertain significance rs886053143 17:48261832-48261834 17:50184471-50184473
44 COL1A1 NM_000088.3(COL1A1): c.*1027del deletion Uncertain significance rs878912123 17:48261836-48261836 17:50184475-50184475
45 COL1A1 NM_000088.3(COL1A1): c.*1007_*1008del deletion Uncertain significance rs886053144 17:48261855-48261856 17:50184494-50184495
46 COL1A1 NM_000088.3(COL1A1): c.*714C> T single nucleotide variant Uncertain significance rs567392981 17:48262149-48262149 17:50184788-50184788
47 COL1A1 NM_000088.3(COL1A1): c.3099+7T> G single nucleotide variant Uncertain significance rs201682029 17:48266096-48266096 17:50188735-50188735
48 COL1A1 NM_000088.3(COL1A1): c.*631G> A single nucleotide variant Uncertain significance rs569577942 17:48262232-48262232 17:50184871-50184871
49 COL1A1 NM_000088.3(COL1A1): c.*242_*244dup duplication Uncertain significance rs56302025 17:48262619-48262621 17:50185258-50185260
50 COL1A1 NM_000088.3(COL1A1): c.3630C> T (p.His1210=) single nucleotide variant Uncertain significance rs745320719 17:48264185-48264185 17:50186824-50186824

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

74
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Arg1014Cys VAR_033097

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.85 COL1A2 COL1A1 CD36
2
Show member pathways
11.68 ALPP ALPL ALPI ALPG
3
Show member pathways
11.65 COL1A2 COL1A1 CD36
4
Show member pathways
11.6 ALPL ALPI ALPG
5 11.58 F3 COL1A2 COL1A1
6 11.34 COL1A2 COL1A1 CD40LG
7 11.21 COL1A2 COL1A1 CD36
8 11.14 COL1A2 COL1A1
9 11.12 COL1A2 COL1A1
10 11.02 CD40LG CD36
11 10.86 COL1A2 COL1A1
12 10.85 COL1A2 COL1A1 CD40LG
13
Show member pathways
10.72 ALPP ALPL ALPI ALPG
14 10.13 ALPP ALPL ALPI ALPG

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 9.86 FAM20C F3 COL1A2 COL1A1 CD40LG CD36
2 endoplasmic reticulum lumen GO:0005788 9.67 FAM20C COL1A2 COL1A1 AHSG
3 collagen-containing extracellular matrix GO:0062023 9.62 F3 COL1A2 COL1A1 AHSG
4 extracellular region GO:0005576 9.61 FAM20C F3 COL1A2 COL1A1 CD40LG ALPL
5 extracellular matrix GO:0031012 9.58 COL1A2 COL1A1 ALPL
6 anchored component of membrane GO:0031225 9.46 ALPP ALPL ALPI ALPG
7 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.65 COL1A2 COL1A1 CD40LG
2 platelet activation GO:0030168 9.54 COL1A2 COL1A1 CD40LG
3 biomineral tissue development GO:0031214 9.46 FAM20C ALPL
4 blood coagulation GO:0007596 9.46 F3 COL1A2 COL1A1 CD36
5 endochondral ossification GO:0001958 9.43 COL1A1 ALPL
6 positive regulation of interleukin-12 production GO:0032735 9.4 CD40LG CD36
7 protein heterotrimerization GO:0070208 9.32 COL1A2 COL1A1
8 skin morphogenesis GO:0043589 9.26 COL1A2 COL1A1
9 dephosphorylation GO:0016311 9.26 ALPP ALPL ALPI ALPG
10 skeletal system development GO:0001501 9.02 FAM20C COL1A2 COL1A1 ALPL AHSG

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

# Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.46 ALPP ALPL ALPI ALPG
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL1A2 COL1A1
3 platelet-derived growth factor binding GO:0048407 9.26 COL1A2 COL1A1
4 protease binding GO:0002020 9.26 F3 COL1A2 COL1A1 ALPI
5 alkaline phosphatase activity GO:0004035 8.92 ALPP ALPL ALPI ALPG

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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