CAFFD
MCID: CFF003
MIFTS: 50

Caffey Disease (CAFFD)

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 123258003 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 ehlers-danlos/osteogenesis imperfecta syndrome and high bone mass osteogenesis imperfecta. 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 facial asymmetry and proptosis

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.

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. 

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 : 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 45)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A1 COL1A2
2 high bone mass osteogenesis imperfecta 10.6 COL1A1 COL1A2
3 larsen-like syndrome 10.6 COL1A1 COL1A2
4 osteogenesis imperfecta, type viii 10.6 COL1A1 COL1A2
5 ehlers-danlos syndrome, classic type 10.5 COL1A1 COL1A2
6 hyperostosis 10.4
7 dentinogenesis imperfecta 10.4 COL1A1 COL1A2
8 osteogenesis imperfecta, type vii 10.3 CD36 COL1A1 COL1A2
9 scleroderma, familial progressive 10.3 CD36 COL1A1 COL1A2
10 ehlers-danlos syndrome, classic type, 1 10.3 CD36 COL1A1 COL1A2
11 osteogenesis imperfecta, type v 10.3 CD36 COL1A1 COL1A2
12 osteogenesis imperfecta, type iv 10.2 CD36 COL1A1 COL1A2
13 bruck syndrome 10.2 CD36 COL1A1 COL1A2
14 osteogenesis imperfecta, type ii 10.2 CD36 COL1A1 COL1A2
15 phosphorus metabolism disease 10.2 FAM20C GALNT3
16 osteogenesis imperfecta, type iii 10.2 CD36 COL1A1 COL1A2
17 osteogenesis imperfecta, type i 10.2 CD36 COL1A1 COL1A2
18 brittle bone disorder 10.2 CD36 COL1A1 COL1A2
19 otosclerosis 10.2 CD36 COL1A1 COL1A2
20 cellulitis 10.2
21 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL1A2
22 secondary hypertrophic osteoarthropathy 10.2 GALNT3 SLCO2A1
23 gray platelet syndrome 10.1 CD36 CD40LG
24 qualitative platelet defect 10.0 CD36 F3
25 bone development disease 10.0 COL1A1 COL1A2
26 thrombocytosis 9.9
27 thrombasthenia 9.8 CD36 F3
28 connective tissue disease 9.8 CD40LG COL1A1 COL1A2
29 down syndrome 9.8
30 calcinosis 9.8
31 cervicitis 9.8
32 collagen disease 9.8 COL1A1 COL1A2
33 fournier gangrene 9.7 CD40LG F3
34 heparin-induced thrombocytopenia 9.7 CD40LG F3
35 hantavirus pulmonary syndrome 9.6 CD40LG F3
36 catastrophic antiphospholipid syndrome 9.6 CD40LG F3
37 splenic disease 9.6 CD40LG F3
38 korean hemorrhagic fever 9.6 CD40LG F3
39 hemorrhagic fever 9.6 CD40LG F3
40 branch retinal artery occlusion 9.5 CD40LG F3
41 endocardium disease 9.5 CD40LG F3
42 scrub typhus 9.5 CD40LG F3
43 blood coagulation disease 9.4 CD40LG F3
44 hepatitis a 9.4 CD40LG F3
45 dengue hemorrhagic fever 9.2 CD40LG F3

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 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
2 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
3 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
4 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
5 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 calvarial hyperostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004490
8 cortical irregularity 59 32 hallmark (90%) Very frequent (99-80%) HP:0005731
9 cortical thickening of long bone diaphyses 59 32 occasional (7.5%) Occasional (29-5%) HP:0005791
10 periosteal thickening of long tubular bones 59 32 frequent (33%) Frequent (79-30%) HP:0006465
11 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
12 increased antibody level in blood 59 32 occasional (7.5%) Occasional (29-5%) HP:0010702
13 cellulitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100658
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 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 CD36 CD40LG COL1A1 COL1A2 F3 FAM20C
2 homeostasis/metabolism MP:0005376 10.06 A4GALT CD36 CD40LG COL1A1 COL1A2 F3
3 behavior/neurological MP:0005386 10.04 A4GALT CD36 COL1A1 COL1A2 F3 FAM20C
4 cardiovascular system MP:0005385 10.02 CD40LG COL1A1 COL1A2 F3 GALNT3 SLCO2A1
5 hematopoietic system MP:0005397 9.98 CD36 CD40LG COL1A1 F3 FAM20C GALNT3
6 immune system MP:0005387 9.97 A4GALT CD36 CD40LG COL1A1 F3 FAM20C
7 mortality/aging MP:0010768 9.86 COL1A1 COL1A2 F3 FAM20C SLCO2A1 A4GALT
8 limbs/digits/tail MP:0005371 9.72 COL1A1 COL1A2 FAM20C GALNT3 SCARF2
9 muscle MP:0005369 9.55 CD36 COL1A1 COL1A2 F3 GALNT3
10 renal/urinary system MP:0005367 9.43 CD36 CD40LG COL1A1 FAM20C GALNT3 SLCO2A1
11 skeleton MP:0005390 9.17 GALNT3 SCARF2 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, Testes, Cortex

Publications for Caffey Disease

Articles related to Caffey Disease:

(show all 40)
# Title Authors Year
1
Familial mutation in Caffey disease with reduced penetrance: A case report. ( 29090879 )
2016
2
Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease). ( 27110654 )
2016
3
Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome. ( 25630842 )
2015
4
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
5
Caffey disease: New perspectives on old questions. ( 24389367 )
2013
6
[Caffey disease. A case report]. ( 24701763 )
2013
7
Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? ( 23522764 )
2013
8
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
9
Caffey disease in neonatal period: the importance of the family! ( 23047998 )
2012
10
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. ( 22213629 )
2012
11
Prenatal Caffey disease. ( 21443040 )
2011
12
COL1A1 mutation in an Indian child with Caffey disease. ( 21249479 )
2011
13
Caffey disease or infantile cortical hyperostosis: a case report. ( 22125716 )
2010
14
Caffey disease. ( 20967539 )
2010
15
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. ( 20890006 )
2010
16
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). ( 19455587 )
2009
17
Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. ( 19280500 )
2009
18
Infantile cortical hyperostosis (Caffey disease): a review. ( 18848116 )
2008
19
Caffey disease with raised immunoglobulin levels and thrombocytosis. ( 18334802 )
2008
20
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). ( 18704262 )
2008
21
Expanding the phenotypic spectrum of Caffey disease. ( 17309652 )
2007
22
Caffey disease: an unlikely collagenopathy. ( 15864344 )
2005
23
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. ( 15864348 )
2005
24
Caffey disease in a 6-month-old girl. ( 14735359 )
2004
25
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. ( 12884437 )
2003
26
Prenatal cortical hyperostosis (Caffey disease). ( 12422848 )
2002
27
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). ( 11827425 )
2001
28
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. ( 9267903 )
1997
29
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). ( 8588573 )
1995
30
Caffey Disease ( 22855962 )
1993
31
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. ( 1359527 )
1992
32
Infantile cortical hyperostosis (Caffey disease): ultrastructural and immunohistochemical characterization of the peritrabecular cells. ( 1724929 )
1990
33
Caffey disease responding to high-dose immunoglobulin. ( 3294018 )
1988
34
Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula. ( 3526563 )
1986
35
Prostaglandin synthetase inhibitor in Caffey disease. ( 6808107 )
1982
36
Case report 139. Infantile cortical hyperostosis (Caffey disease). ( 7008205 )
1981
37
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). ( 7023758 )
1981
38
Letter: Familial Caffey disease. ( 1107501 )
1976
39
Infantile cortical hyperostosis. Caffey disease. ( 795262 )
1976
40
Autosomal dominant inheritance of Caffey disease. ( 4609117 )
1974

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 177)
# 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 A4GALT, 42C-T single nucleotide variant Pathogenic
4 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh37 Chromosome 17, 48272469: 48272469
5 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh38 Chromosome 17, 50195108: 50195108
6 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh37 Chromosome 17, 48270160: 48270160
7 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh38 Chromosome 17, 50192799: 50192799
8 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh37 Chromosome 17, 48263021: 48263021
9 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh38 Chromosome 17, 50185660: 50185660
10 COL1A1 NM_000088.3(COL1A1): c.1300-8C> G single nucleotide variant Benign/Likely benign rs41317361 GRCh37 Chromosome 17, 48272469: 48272469
11 COL1A1 NM_000088.3(COL1A1): c.1300-8C> G single nucleotide variant Benign/Likely benign rs41317361 GRCh38 Chromosome 17, 50195108: 50195108
12 COL1A1 NM_000088.3(COL1A1): c.2298T> C (p.Thr766=) single nucleotide variant Benign/Likely benign rs2734272 GRCh37 Chromosome 17, 48268223: 48268223
13 COL1A1 NM_000088.3(COL1A1): c.2298T> C (p.Thr766=) single nucleotide variant Benign/Likely benign rs2734272 GRCh38 Chromosome 17, 50190862: 50190862
14 COL1A1 NM_000088.3(COL1A1): c.1930-14T> C single nucleotide variant Benign/Likely benign rs2696247 GRCh37 Chromosome 17, 48269903: 48269903
15 COL1A1 NM_000088.3(COL1A1): c.1930-14T> C single nucleotide variant Benign/Likely benign rs2696247 GRCh38 Chromosome 17, 50192542: 50192542
16 COL1A1 NM_000088.3(COL1A1): c.859-14T> G single nucleotide variant Benign/Likely benign rs17639446 GRCh37 Chromosome 17, 48273903: 48273903
17 COL1A1 NM_000088.3(COL1A1): c.859-14T> G single nucleotide variant Benign/Likely benign rs17639446 GRCh38 Chromosome 17, 50196542: 50196542
18 COL1A1 NM_000088.3(COL1A1): c.177G> T (p.Arg59=) single nucleotide variant Benign/Likely benign rs1057297 GRCh37 Chromosome 17, 48277235: 48277235
19 COL1A1 NM_000088.3(COL1A1): c.177G> T (p.Arg59=) single nucleotide variant Benign/Likely benign rs1057297 GRCh38 Chromosome 17, 50199874: 50199874
20 COL1A1 NM_000088.3(COL1A1): c.4179C> T (p.Ser1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800219 GRCh37 Chromosome 17, 48263208: 48263208
21 COL1A1 NM_000088.3(COL1A1): c.4179C> T (p.Ser1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800219 GRCh38 Chromosome 17, 50185847: 50185847
22 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
23 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh38 Chromosome 17, 50198505: 50198505
24 COL1A1 NM_000088.3(COL1A1): c.1615-4C> A single nucleotide variant Benign/Likely benign rs41316657 GRCh37 Chromosome 17, 48271548: 48271548
25 COL1A1 NM_000088.3(COL1A1): c.1615-4C> A single nucleotide variant Benign/Likely benign rs41316657 GRCh38 Chromosome 17, 50194187: 50194187
26 COL1A1 NM_000088.3(COL1A1): c.2116G> A (p.Asp706Asn) single nucleotide variant Uncertain significance rs372215246 GRCh37 Chromosome 17, 48269160: 48269160
27 COL1A1 NM_000088.3(COL1A1): c.2116G> A (p.Asp706Asn) single nucleotide variant Uncertain significance rs372215246 GRCh38 Chromosome 17, 50191799: 50191799
28 COL1A1 NM_000088.3(COL1A1): c.1821C> T (p.Val607=) single nucleotide variant Benign/Likely benign rs41316667 GRCh37 Chromosome 17, 48270355: 48270355
29 COL1A1 NM_000088.3(COL1A1): c.1821C> T (p.Val607=) single nucleotide variant Benign/Likely benign rs41316667 GRCh38 Chromosome 17, 50192994: 50192994
30 COL1A1 NM_000088.3(COL1A1): c.*1384_*1387delATGT deletion Uncertain significance rs886053139 GRCh38 Chromosome 17, 50184115: 50184118
31 COL1A1 NM_000088.3(COL1A1): c.*1384_*1387delATGT deletion Uncertain significance rs886053139 GRCh37 Chromosome 17, 48261476: 48261479
32 COL1A1 NM_000088.3(COL1A1): c.*1030_*1031delGA deletion Uncertain significance rs886053142 GRCh37 Chromosome 17, 48261832: 48261833
33 COL1A1 NM_000088.3(COL1A1): c.*1030_*1031delGA deletion Uncertain significance rs886053142 GRCh38 Chromosome 17, 50184471: 50184472
34 COL1A1 NM_000088.3(COL1A1): c.*1029_*1031delGGA deletion Uncertain significance rs886053143 GRCh37 Chromosome 17, 48261832: 48261834
35 COL1A1 NM_000088.3(COL1A1): c.*1029_*1031delGGA deletion Uncertain significance rs886053143 GRCh38 Chromosome 17, 50184471: 50184473
36 COL1A1 NM_000088.3(COL1A1): c.*1027delG deletion Uncertain significance rs878912123 GRCh37 Chromosome 17, 48261836: 48261836
37 COL1A1 NM_000088.3(COL1A1): c.*1027delG deletion Uncertain significance rs878912123 GRCh38 Chromosome 17, 50184475: 50184475
38 COL1A1 NM_000088.3(COL1A1): c.*1007_*1008delCT deletion Uncertain significance rs886053144 GRCh37 Chromosome 17, 48261855: 48261856
39 COL1A1 NM_000088.3(COL1A1): c.*1007_*1008delCT deletion Uncertain significance rs886053144 GRCh38 Chromosome 17, 50184494: 50184495
40 COL1A1 NM_000088.3(COL1A1): c.*714C> T single nucleotide variant Uncertain significance rs567392981 GRCh37 Chromosome 17, 48262149: 48262149
41 COL1A1 NM_000088.3(COL1A1): c.*714C> T single nucleotide variant Uncertain significance rs567392981 GRCh38 Chromosome 17, 50184788: 50184788
42 COL1A1 NM_000088.3(COL1A1): c.*681_*682insAGCA insertion Likely benign rs112626388 GRCh37 Chromosome 17, 48262181: 48262182
43 COL1A1 NM_000088.3(COL1A1): c.*681_*682insAGCA insertion Likely benign rs112626388 GRCh38 Chromosome 17, 50184820: 50184821
44 COL1A1 NM_000088.3(COL1A1): c.*623G> A single nucleotide variant Uncertain significance rs886053149 GRCh38 Chromosome 17, 50184879: 50184879
45 COL1A1 NM_000088.3(COL1A1): c.*623G> A single nucleotide variant Uncertain significance rs886053149 GRCh37 Chromosome 17, 48262240: 48262240
46 COL1A1 NM_000088.3(COL1A1): c.*378C> G single nucleotide variant Uncertain significance rs148131473 GRCh37 Chromosome 17, 48262485: 48262485
47 COL1A1 NM_000088.3(COL1A1): c.*378C> G single nucleotide variant Uncertain significance rs148131473 GRCh38 Chromosome 17, 50185124: 50185124
48 COL1A1 NM_000088.3(COL1A1): c.*259_*260insAT insertion Uncertain significance rs886053151 GRCh38 Chromosome 17, 50185242: 50185243
49 COL1A1 NM_000088.3(COL1A1): c.*259_*260insAT insertion Uncertain significance rs886053151 GRCh37 Chromosome 17, 48262603: 48262604
50 COL1A1 NM_000088.3(COL1A1): c.*255dupA duplication Uncertain significance rs886053153 GRCh37 Chromosome 17, 48262608: 48262608

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 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 endoplasmic reticulum lumen GO:0005788 9.54 COL1A1 COL1A2 FAM20C
4 extracellular matrix GO:0031012 9.5 COL1A1 COL1A2 F3
5 collagen trimer GO:0005581 9.13 CD36 COL1A1 COL1A2
6 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 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 9.48 COL1A1 COL1A2
4 cellular response to amino acid stimulus GO:0071230 9.46 COL1A1 COL1A2
5 collagen fibril organization GO:0030199 9.43 COL1A1 COL1A2
6 platelet activation GO:0030168 9.43 CD40LG COL1A1 COL1A2
7 positive regulation of interleukin-12 production GO:0032735 9.37 CD36 CD40LG
8 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
9 skin morphogenesis GO:0043589 8.96 COL1A1 COL1A2
10 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 scavenger receptor activity GO:0005044 9.26 CD36 SCARF2
2 manganese ion binding GO:0030145 9.16 FAM20C GALNT3
3 protease binding GO:0002020 9.13 COL1A1 COL1A2 F3
4 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

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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