CAFFD
MCID: CFF003
MIFTS: 52

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 76 24 53 25 59 75 13 55 15
Infantile Cortical Hyperostosis 57 12 24 53 25 59 75 37 29 6
Cortical Congenital Hyperostosis 12 73
Hyperostosis Cortical Infantile 76 53
Hyperostosis, Cortical, Congenital 44
Caffey-Silverman Syndrome 25
De Toni-Caffey Disease 25
Caffd 75

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 [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 57 114000
Disease Ontology 12 DOID:4257
ICD10 33 M89.8
MeSH 44 D006958
SNOMED-CT 68 24752008
Orphanet 59 ORPHA1310
UMLS via Orphanet 74 C0020497
ICD10 via Orphanet 34 M89.8
KEGG 37 H00613
UMLS 73 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 ehlers-danlos syndrome, classic type, 2. 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. Affiliated tissues include bone, testes and cortex, and related phenotypes are respiratory insufficiency and scoliosis

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. 

UniProtKB/Swiss-Prot : 75 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 : 76 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 44)
# Related Disease Score Top Affiliating Genes
1 hyperostosis 30.8 GALNT3 COL1A1
2 ehlers-danlos syndrome, classic type, 2 10.2 COL1A1 CD36
3 ehlers-danlos/osteogenesis imperfecta syndrome 10.2 COL1A2 COL1A1
4 hypervitaminosis a 10.1
5 wiskott-aldrich syndrome 10.1
6 exophthalmos 10.1
7 osteoporosis, juvenile 10.1 COL1A1 CD36
8 high bone mass osteogenesis imperfecta 10.1 COL1A2 COL1A1
9 osteogenesis imperfecta, type viii 10.1 COL1A2 COL1A1
10 larsen-like syndrome 10.1 COL1A2 COL1A1
11 classic ehlers-danlos syndrome 10.1 COL1A2 COL1A1
12 ehlers-danlos syndrome, classic type, 1 10.1 COL1A2 COL1A1
13 thrombocytosis 10.1
14 dentinogenesis imperfecta 10.1 COL1A2 COL1A1
15 collagen disease 10.1 COL1A2 COL1A1
16 osteogenesis imperfecta, type vii 10.0 COL1A2 COL1A1 CD36
17 spondyloepiphyseal dysplasia congenita 10.0 COL1A2 COL1A1
18 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1 CD36
19 scleroderma, familial progressive 10.0 COL1A2 COL1A1 CD36
20 osteogenesis imperfecta, type iv 10.0 COL1A2 COL1A1 CD36
21 osteogenesis imperfecta, type i 10.0 COL1A2 COL1A1 CD36
22 osteogenesis imperfecta, type ii 10.0 COL1A2 COL1A1 CD36
23 osteogenesis imperfecta, type iii 10.0 COL1A2 COL1A1 CD36
24 bruck syndrome 10.0 COL1A2 COL1A1 CD36
25 brittle bone disorder 10.0 COL1A2 COL1A1 CD36
26 otosclerosis 10.0 COL1A2 COL1A1 CD36
27 bone development disease 10.0 COL1A2 COL1A1
28 phosphorus metabolism disease 10.0 GALNT3 FAM20C
29 hepatitis 10.0
30 bone disease 10.0
31 fibrous dysplasia 10.0
32 osteomyelitis 10.0
33 cellulitis 10.0
34 milk allergy 10.0
35 aminoaciduria 10.0
36 dysphagia 10.0
37 erb's palsy 10.0
38 qualitative platelet defect 10.0 F3 CD36
39 secondary hypertrophic osteoarthropathy 10.0 SLCO2A1 GALNT3
40 down syndrome 10.0
41 calcinosis 10.0
42 von willebrand disease, type 2 9.9 F3 CD36
43 thrombasthenia 9.9 F3 CD36
44 osteochondrodysplasia 9.9 COL1A2 COL1A1

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



Diseases related to Caffey Disease

Symptoms & Phenotypes for Caffey Disease

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

Human phenotypes related to Caffey Disease:

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

MGI Mouse Phenotypes related to Caffey Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 A4GALT CD36 COL1A1 COL1A2 F3 FAM20C
2 homeostasis/metabolism MP:0005376 9.97 A4GALT CD36 COL1A1 COL1A2 F3 FAM20C
3 cellular MP:0005384 9.95 CD36 COL1A1 COL1A2 F3 FAM20C GALNT3
4 cardiovascular system MP:0005385 9.91 CD36 COL1A1 COL1A2 F3 GALNT3 SLCO2A1
5 immune system MP:0005387 9.87 A4GALT CD36 COL1A1 F3 FAM20C GALNT3
6 limbs/digits/tail MP:0005371 9.65 COL1A1 COL1A2 FAM20C GALNT3 SCARF2
7 muscle MP:0005369 9.55 CD36 COL1A1 COL1A2 F3 GALNT3
8 renal/urinary system MP:0005367 9.35 CD36 COL1A1 FAM20C GALNT3 SLCO2A1
9 skeleton MP:0005390 9.1 CD36 COL1A1 COL1A2 FAM20C GALNT3 SCARF2

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, Testes, Cortex

Publications for Caffey Disease

Articles related to Caffey Disease:

(show top 50) (show all 168)
# Title Authors Year
1
Infantile cortical hyperostosis manifesting as congenital unilateral proptosis. ( 30503007 )
2018
2
Infantile Cortical Hyperostosis of Scapula Presenting as Pseudoparalysis in an Infant. ( 28285293 )
2017
3
Familial mutation in Caffey disease with reduced penetrance: A case report. ( 29090879 )
2016
4
Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease). ( 27110654 )
2016
5
Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome. ( 25630842 )
2015
6
Infantile cortical hyperostosis - a report of Saudi family. ( 27493423 )
2015
7
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
8
Caffey disease: New perspectives on old questions. ( 24389367 )
2013
9
[Caffey disease. A case report]. ( 24701763 )
2013
10
Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? ( 23522764 )
2013
11
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
12
Caffey disease in neonatal period: the importance of the family! ( 23047998 )
2012
13
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. ( 22213629 )
2012
14
Prenatal Caffey disease. ( 21443040 )
2011
15
COL1A1 mutation in an Indian child with Caffey disease. ( 21249479 )
2011
16
Caffey disease or infantile cortical hyperostosis: a case report. ( 22125716 )
2010
17
Caffey disease. ( 20967539 )
2010
18
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. ( 20890006 )
2010
19
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). ( 19455587 )
2009
20
Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. ( 19280500 )
2009
21
Infantile cortical hyperostosis (Caffey disease): a review. ( 18848116 )
2008
22
Caffey disease with raised immunoglobulin levels and thrombocytosis. ( 18334802 )
2008
23
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). ( 18704262 )
2008
24
Expanding the phenotypic spectrum of Caffey disease. ( 17309652 )
2007
25
Caffey disease: an unlikely collagenopathy. ( 15864344 )
2005
26
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. ( 15864348 )
2005
27
Caffey disease in a 6-month-old girl. ( 14735359 )
2004
28
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. ( 12884437 )
2003
29
Prenatal cortical hyperostosis (Caffey disease). ( 12422848 )
2002
30
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). ( 11827425 )
2001
31
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. ( 9267903 )
1997
32
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). ( 8588573 )
1995
33
Caffey Disease ( 22855962 )
1993
34
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. ( 1359527 )
1992
35
Mineral balance in infantile cortical hyperostosis: effects of corticosteroids. ( 1847282 )
1991
36
Infantile cortical hyperostosis (Caffey disease): ultrastructural and immunohistochemical characterization of the peritrabecular cells. ( 1724929 )
1990
37
Familial infantile cortical hyperostosis (Caffey's disease) in rhesus monkeys (Macaca mulatta). ( 2669314 )
1989
38
Caffey disease responding to high-dose immunoglobulin. ( 3294018 )
1988
39
Infantile cortical hyperostosis. ( 3073131 )
1988
40
Dysphagia in infantile cortical hyperostosis (Caffey's disease): a case study. ( 3286336 )
1988
41
Two possible cases of infantile cortical hyperostosis. ( 11621590 )
1988
42
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. ( 3526563 )
1986
43
Infantile cortical hyperostosis: report of two cases. ( 3525785 )
1986
44
Infantile cortical hyperostosis with osteomyelitis of the humerus. ( 3886700 )
1985
45
Infantile cortical hyperostosis with intramedullary lesions. ( 3889053 )
1985
46
Infantile cortical hyperostosis. ( 3902982 )
1985
47
Pathology of infantile cortical hyperostosis (Caffey's disease). Report of a case. ( 3908461 )
1985
48
Infantile cortical hyperostosis of the ribs (Caffey's disease) without mandibular involvement. ( 6351005 )
1983
49
Familial infantile cortical hyperostosis. ( 6357801 )
1983
50
Prostaglandin synthetase inhibitor in Caffey disease. ( 6808107 )
1982

Variations for Caffey Disease

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

75
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Arg1014Cys VAR_033097

ClinVar genetic disease variations for Caffey Disease:

6 (show top 50) (show all 184)
# 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 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh38 Chromosome 17, 50188908: 50188908
3 A4GALT NM_017436.6(A4GALT): c.42C> T (p.Gly14=) single nucleotide variant Pathogenic rs778598915 GRCh38 Chromosome 22, 42693910: 42693910
4 A4GALT NM_017436.6(A4GALT): c.42C> T (p.Gly14=) single nucleotide variant Pathogenic rs778598915 GRCh37 Chromosome 22, 43089916: 43089916
5 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh37 Chromosome 17, 48272469: 48272469
6 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh38 Chromosome 17, 50195108: 50195108
7 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh37 Chromosome 17, 48270160: 48270160
8 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh38 Chromosome 17, 50192799: 50192799
9 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh37 Chromosome 17, 48263021: 48263021
10 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh38 Chromosome 17, 50185660: 50185660
11 COL1A1 NM_000088.3(COL1A1): c.2298T> C (p.Thr766=) single nucleotide variant Benign/Likely benign rs2734272 GRCh37 Chromosome 17, 48268223: 48268223
12 COL1A1 NM_000088.3(COL1A1): c.2298T> C (p.Thr766=) single nucleotide variant Benign/Likely benign rs2734272 GRCh38 Chromosome 17, 50190862: 50190862
13 COL1A1 NM_000088.3(COL1A1): c.1930-14T> C single nucleotide variant Benign/Likely benign rs2696247 GRCh37 Chromosome 17, 48269903: 48269903
14 COL1A1 NM_000088.3(COL1A1): c.1930-14T> C single nucleotide variant Benign/Likely benign rs2696247 GRCh38 Chromosome 17, 50192542: 50192542
15 COL1A1 NM_000088.3(COL1A1): c.859-14T> G single nucleotide variant Benign/Likely benign rs17639446 GRCh37 Chromosome 17, 48273903: 48273903
16 COL1A1 NM_000088.3(COL1A1): c.859-14T> G single nucleotide variant Benign/Likely benign rs17639446 GRCh38 Chromosome 17, 50196542: 50196542
17 COL1A1 NM_000088.3(COL1A1): c.177G> T (p.Arg59=) single nucleotide variant Benign/Likely benign rs1057297 GRCh37 Chromosome 17, 48277235: 48277235
18 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
19 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh38 Chromosome 17, 50198505: 50198505
20 COL1A1 NM_000088.3(COL1A1): c.1821C> T (p.Val607=) single nucleotide variant Benign/Likely benign rs41316667 GRCh37 Chromosome 17, 48270355: 48270355
21 COL1A1 NM_000088.3(COL1A1): c.1821C> T (p.Val607=) single nucleotide variant Benign/Likely benign rs41316667 GRCh38 Chromosome 17, 50192994: 50192994
22 COL1A1 NM_000088.3(COL1A1): c.*1233G> A single nucleotide variant Likely benign rs73987442 GRCh38 Chromosome 17, 50184269: 50184269
23 COL1A1 NM_000088.3(COL1A1): c.*1233G> A single nucleotide variant Likely benign rs73987442 GRCh37 Chromosome 17, 48261630: 48261630
24 COL1A1 NM_000088.3(COL1A1): c.*1175T> G single nucleotide variant Likely benign rs75713851 GRCh37 Chromosome 17, 48261688: 48261688
25 COL1A1 NM_000088.3(COL1A1): c.*1175T> G single nucleotide variant Likely benign rs75713851 GRCh38 Chromosome 17, 50184327: 50184327
26 COL1A1 NM_000088.3(COL1A1): c.*1045delA deletion Uncertain significance rs886053141 GRCh37 Chromosome 17, 48261818: 48261818
27 COL1A1 NM_000088.3(COL1A1): c.*1045delA deletion Uncertain significance rs886053141 GRCh38 Chromosome 17, 50184457: 50184457
28 COL1A1 NM_000088.3(COL1A1): c.*1028_*1029delTG deletion Uncertain significance rs878983048 GRCh37 Chromosome 17, 48261834: 48261835
29 COL1A1 NM_000088.3(COL1A1): c.*1028_*1029delTG deletion Uncertain significance rs878983048 GRCh38 Chromosome 17, 50184473: 50184474
30 COL1A1 NM_000088.3(COL1A1): c.*744C> T single nucleotide variant Likely benign rs1061947 GRCh37 Chromosome 17, 48262119: 48262119
31 COL1A1 NM_000088.3(COL1A1): c.*744C> T single nucleotide variant Likely benign rs1061947 GRCh38 Chromosome 17, 50184758: 50184758
32 COL1A1 NM_000088.3(COL1A1): c.*631G> A single nucleotide variant Uncertain significance rs569577942 GRCh38 Chromosome 17, 50184871: 50184871
33 COL1A1 NM_000088.3(COL1A1): c.*631G> A single nucleotide variant Uncertain significance rs569577942 GRCh37 Chromosome 17, 48262232: 48262232
34 COL1A1 NM_000088.3(COL1A1): c.*242_*244dupAAA duplication Uncertain significance rs564411753 GRCh38 Chromosome 17, 50185258: 50185260
35 COL1A1 NM_000088.3(COL1A1): c.*242_*244dupAAA duplication Uncertain significance rs564411753 GRCh37 Chromosome 17, 48262619: 48262621
36 COL1A1 NM_000088.3(COL1A1): c.3630C> T (p.His1210=) single nucleotide variant Uncertain significance rs745320719 GRCh38 Chromosome 17, 50186824: 50186824
37 COL1A1 NM_000088.3(COL1A1): c.3630C> T (p.His1210=) single nucleotide variant Uncertain significance rs745320719 GRCh37 Chromosome 17, 48264185: 48264185
38 COL1A1 NM_000088.3(COL1A1): c.3424-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs370865189 GRCh38 Chromosome 17, 50187128: 50187128
39 COL1A1 NM_000088.3(COL1A1): c.3424-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs370865189 GRCh37 Chromosome 17, 48264489: 48264489
40 COL1A1 NM_000088.3(COL1A1): c.3099+7T> G single nucleotide variant Uncertain significance rs201682029 GRCh37 Chromosome 17, 48266096: 48266096
41 COL1A1 NM_000088.3(COL1A1): c.3099+7T> G single nucleotide variant Uncertain significance rs201682029 GRCh38 Chromosome 17, 50188735: 50188735
42 COL1A1 NM_000088.3(COL1A1): c.2613+14G> A single nucleotide variant Benign/Likely benign rs41316685 GRCh37 Chromosome 17, 48267206: 48267206
43 COL1A1 NM_000088.3(COL1A1): c.2613+14G> A single nucleotide variant Benign/Likely benign rs41316685 GRCh38 Chromosome 17, 50189845: 50189845
44 COL1A1 NM_000088.3(COL1A1): c.1002+10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs368316440 GRCh37 Chromosome 17, 48273506: 48273506
45 COL1A1 NM_000088.3(COL1A1): c.1002+10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs368316440 GRCh38 Chromosome 17, 50196145: 50196145
46 COL1A1 NM_000088.3(COL1A1): c.957+15C> T single nucleotide variant Uncertain significance rs779096006 GRCh37 Chromosome 17, 48273660: 48273660
47 COL1A1 NM_000088.3(COL1A1): c.957+15C> T single nucleotide variant Uncertain significance rs779096006 GRCh38 Chromosome 17, 50196299: 50196299
48 COL1A1 NM_000088.3(COL1A1): c.627C> T (p.Gly209=) single nucleotide variant Conflicting interpretations of pathogenicity rs201136122 GRCh37 Chromosome 17, 48275325: 48275325
49 COL1A1 NM_000088.3(COL1A1): c.627C> T (p.Gly209=) single nucleotide variant Conflicting interpretations of pathogenicity rs201136122 GRCh38 Chromosome 17, 50197964: 50197964
50 COL1A1 NM_000088.3(COL1A1): c.528C> T (p.Ser176=) single nucleotide variant Conflicting interpretations of pathogenicity rs748856187 GRCh37 Chromosome 17, 48275809: 48275809

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:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.43 COL1A1 COL1A2 FAM20C
2 Golgi apparatus GO:0005794 9.35 A4GALT CD36 COL1A1 FAM20C GALNT3
3 collagen-containing extracellular matrix GO:0062023 9.33 COL1A1 COL1A2 F3
4 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.54 CD36 COL1A2 F3
2 cellular response to amino acid stimulus GO:0071230 9.43 COL1A1 COL1A2
3 skeletal system development GO:0001501 9.43 COL1A1 COL1A2 FAM20C
4 blood vessel development GO:0001568 9.4 COL1A1 COL1A2
5 collagen fibril organization GO:0030199 9.32 COL1A1 COL1A2
6 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
7 skin morphogenesis GO:0043589 8.96 COL1A1 COL1A2
8 blood coagulation GO:0007596 8.92 CD36 COL1A1 COL1A2 F3

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

# Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 9.26 FAM20C GALNT3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL1A1 COL1A2
3 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL1A2
4 protease binding GO:0002020 8.8 COL1A1 COL1A2 F3

Sources for Caffey Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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