CAFFD
MCID: CFF003
MIFTS: 51

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 58 12 77 25 54 26 60 76 13 56 15
Infantile Cortical Hyperostosis 58 12 25 54 26 60 76 38 30 6
Cortical Congenital Hyperostosis 12 74
Hyperostosis, Cortical, Congenital 45
Hyperostosis Cortical Infantile 77
Caffey-Silverman Syndrome 26
De Toni-Caffey Disease 26
Caffd 76

Characteristics:

Orphanet epidemiological data:

60
caffey disease
Inheritance: Autosomal dominant; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
caffey disease:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

Disease Ontology 12 DOID:4257
OMIM 58 114000
KEGG 38 H00613
MeSH 45 D006958
SNOMED-CT 69 24752008
ICD10 34 M89.8
ICD10 via Orphanet 35 M89.8
UMLS via Orphanet 75 C0020497
Orphanet 60 ORPHA1310
UMLS 74 C0020497

Summaries for Caffey Disease

Genetics Home Reference : 26 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 bone disease and hyperostosis. 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, testes 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 : 54 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 : 76 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 : 77 Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone... more...

Description from OMIM: 114000
GeneReviews: NBK99168

Related Diseases for Caffey Disease

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 bone disease 29.8 ALPL ALPP CD36 COL1A1
2 hyperostosis 10.6
3 ehlers-danlos syndrome, classic type, 2 10.3 CD36 COL1A1
4 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
5 high bone mass osteogenesis imperfecta 10.3 COL1A1 COL1A2
6 larsen-like syndrome 10.3 COL1A1 COL1A2
7 osteogenesis imperfecta, type viii 10.3 COL1A1 COL1A2
8 osteoporosis, juvenile 10.3 CD36 COL1A1
9 classic ehlers-danlos syndrome 10.3 COL1A1 COL1A2
10 ehlers-danlos syndrome, classic type, 1 10.2 COL1A1 COL1A2
11 prostatic hypertrophy 10.2 ALPP CD36
12 otosclerosis 10.2 COL1A1 COL1A2
13 qualitative platelet defect 10.2 CD36 F3
14 hypervitaminosis a 10.2
15 wiskott-aldrich syndrome 10.2
16 exophthalmos 10.2
17 osteogenesis imperfecta, type i 10.1 CD36 COL1A1 COL1A2
18 osteogenesis imperfecta, type vii 10.1 CD36 COL1A1 COL1A2
19 osteogenesis imperfecta, type v 10.1 CD36 COL1A1 COL1A2
20 scleroderma, familial progressive 10.1 CD36 COL1A1 COL1A2
21 thrombocytosis 10.1
22 osteogenesis imperfecta, type iv 10.1 CD36 COL1A1 COL1A2
23 osteogenesis imperfecta, type iii 10.1 CD36 COL1A1 COL1A2
24 bruck syndrome 10.1 CD36 COL1A1 COL1A2
25 dentinogenesis imperfecta 10.1 COL1A1 COL1A2
26 brittle bone disorder 10.1 CD36 COL1A1 COL1A2
27 tick infestation 10.1 ALPL ALPP
28 hypophosphatasia 10.1 ALPL ALPP
29 hypophosphatasia, infantile 10.1 ALPL ALPP
30 von willebrand disease, type 2 10.1 CD36 F3
31 spondyloepiphyseal dysplasia congenita 10.1 COL1A1 COL1A2
32 thrombasthenia 10.1 CD36 F3
33 collagen disease 10.0 COL1A1 COL1A2
34 hepatitis 10.0
35 fibrous dysplasia 10.0
36 osteomyelitis 10.0
37 goiter 10.0
38 cellulitis 10.0
39 milk allergy 10.0
40 aminoaciduria 10.0
41 dysphagia 10.0
42 erb's palsy 10.0
43 down syndrome 10.0
44 calcinosis 10.0
45 bone development disease 9.9 COL1A1 COL1A2
46 osteogenesis imperfecta, type ii 9.9 ALPL CD36 COL1A1 COL1A2
47 testis seminoma 9.9 ALPI ALPL ALPP
48 osteoporosis 9.6 ALPL ALPP CD36 COL1A1 COL1A2

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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cellulitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100658
2 cortical irregularity 60 33 hallmark (90%) Very frequent (99-80%) HP:0005731
3 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
4 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
5 periosteal thickening of long tubular bones 60 33 frequent (33%) Frequent (79-30%) HP:0006465
6 hyperesthesia 60 33 frequent (33%) Frequent (79-30%) HP:0100963
7 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
8 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
9 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
10 proptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000520
11 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
12 calvarial hyperostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004490
13 cortical thickening of long bone diaphyses 60 33 occasional (7.5%) Occasional (29-5%) HP:0005791
14 increased antibody level in blood 60 33 occasional (7.5%) Occasional (29-5%) HP:0010702
15 tibial bowing 33 HP:0002982

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 A4GALT ALPL CD36 COL1A1 COL1A2 F3
2 growth/size/body region MP:0005378 9.76 ALPG ALPI ALPL CD36 COL1A1 COL1A2
3 limbs/digits/tail MP:0005371 9.35 ALPL COL1A1 COL1A2 FAM20C SCARF2
4 skeleton MP:0005390 9.1 ALPL CD36 COL1A1 COL1A2 FAM20C 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 30 COL1A1

Anatomical Context for Caffey Disease

MalaCards organs/tissues related to Caffey Disease:

42
Bone, Testes, Cortex, Myeloid, Prostate, Testis

Publications for Caffey Disease

Articles related to Caffey Disease:

(show top 50) (show all 202)
# Title Authors Year
1
A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis. ( 31016912 )
2019
2
Unusual findings on infantile cortical hyperostosis: A case report. ( 29956834 )
2018
3
Infantile cortical hyperostosis manifesting as congenital unilateral proptosis. ( 30503007 )
2018
4
Infantile Cortical Hyperostosis of Scapula Presenting as Pseudoparalysis in an Infant. ( 28285293 )
2017
5
Infantile Cortical Hyperostosis: Report of a Case with Observations on Clinical Manifestations, Radiology, and Pathology with a Late Follow-Up of Eight Years. ( 28050300 )
2016
6
Familial mutation in Caffey disease with reduced penetrance: A case report. ( 29090879 )
2016
7
Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease). ( 27110654 )
2016
8
Infantile cortical hyperostosis - a report of Saudi family. ( 27493423 )
2015
9
Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome. ( 25630842 )
2015
10
Infantile cortical hyperostosis: two cases with varied presentations. ( 25478424 )
2014
11
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
12
Caffey disease: new perspectives on old questions. ( 24389367 )
2014
13
Recurrence of infantile cortical hyperostosis: a case report and review of the literature. ( 23389580 )
2013
14
Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? ( 23522764 )
2013
15
[Caffey disease. A case report]. ( 24701763 )
2013
16
Caffey disease in neonatal period: the importance of the family! ( 23047998 )
2012
17
Severe thrombocytosis as initial manifestation of Caffey disease in a 4 month old infant. ( 22213629 )
2012
18
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
19
Infantile cortical hyperostosis and COL1A1 mutation in four generations. ( 21567126 )
2011
20
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. ( 20971946 )
2011
21
Prenatal Caffey disease. ( 21443040 )
2011
22
COL1A1 mutation in an Indian child with Caffey disease. ( 21249479 )
2011
23
Caffey disease or infantile cortical hyperostosis: a case report. ( 22125716 )
2010
24
Caffey disease. ( 20967539 )
2010
25
Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse. ( 20890006 )
2010
26
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. ( 19203363 )
2009
27
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). ( 19455587 )
2009
28
Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. ( 19280500 )
2009
29
Infantile cortical hyperostosis of the mandible. ( 18262694 )
2008
30
Prenatal cortical hyperostosis with COL1A1 gene mutation. ( 18553566 )
2008
31
Infantile cortical hyperostosis (Caffey disease): a review. ( 18848116 )
2008
32
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). ( 18704262 )
2008
33
Caffey disease with raised immunoglobulin levels and thrombocytosis. ( 18334802 )
2008
34
Expanding the phenotypic spectrum of Caffey disease. ( 17309652 )
2007
35
Lethal infantile cortical hyperostosis. ( 16243753 )
2005
36
Prenatal infantile cortical hyperostosis (Caffey's disease): a 'hepatic myeloid hyperplasia-pulmonary hypoplasia sequence' can explain the lethality of early onset cases. ( 16193456 )
2005
37
Infantile cortical hyperostosis. ( 15970613 )
2005
38
Infantile cortical hyperostosis. ( 15695863 )
2005
39
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. ( 15864348 )
2005
40
Caffey disease: an unlikely collagenopathy. ( 15864344 )
2005
41
Infantile cortical hyperostosis of the mandible. ( 15372912 )
2004
42
Caffey disease in a 6-month-old girl. ( 14735359 )
2004
43
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. ( 12884437 )
2003
44
Infantile cortical hyperostosis. ( 12466580 )
2002
45
Prenatal cortical hyperostosis (Caffey disease). ( 12422848 )
2002
46
A case of infantile cortical hyperostosis. ( 11598632 )
2001
47
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). ( 11827425 )
2001
48
Radiologic case study. Infantile cortical hyperostosis (Caffey's disease). ( 10418870 )
1999
49
Caffey-Silverman syndrome (infantile cortical hyperostosis) mimicking periorbital cellulitis. ( 9972514 )
1999
50
Sporadic congenital infantile cortical hyperostosis (Caffey's disease). ( 10064204 )
1998

Variations for Caffey Disease

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

76
# 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 202)
# 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 GRCh38 Chromosome 22, 42693910: 42693910
4 A4GALT NM_017436.6(A4GALT): c.42C> T (p.Gly14=) single nucleotide variant Pathogenic 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.4179C> T (p.Ser1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800219 GRCh37 Chromosome 17, 48263208: 48263208
12 COL1A1 NM_000088.3(COL1A1): c.4179C> T (p.Ser1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800219 GRCh38 Chromosome 17, 50185847: 50185847
13 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
14 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh38 Chromosome 17, 50198505: 50198505
15 COL1A1 NM_000088.3(COL1A1): c.*1233G> A single nucleotide variant Likely benign rs73987442 GRCh38 Chromosome 17, 50184269: 50184269
16 COL1A1 NM_000088.3(COL1A1): c.*1233G> A single nucleotide variant Likely benign rs73987442 GRCh37 Chromosome 17, 48261630: 48261630
17 COL1A1 NM_000088.3(COL1A1): c.*1175T> G single nucleotide variant Likely benign rs75713851 GRCh37 Chromosome 17, 48261688: 48261688
18 COL1A1 NM_000088.3(COL1A1): c.*1175T> G single nucleotide variant Likely benign rs75713851 GRCh38 Chromosome 17, 50184327: 50184327
19 COL1A1 NM_000088.3(COL1A1): c.*1045delA deletion Uncertain significance rs886053141 GRCh37 Chromosome 17, 48261818: 48261818
20 COL1A1 NM_000088.3(COL1A1): c.*1045delA deletion Uncertain significance rs886053141 GRCh38 Chromosome 17, 50184457: 50184457
21 COL1A1 NM_000088.3(COL1A1): c.*1028_*1029delTG deletion Uncertain significance rs878983048 GRCh37 Chromosome 17, 48261834: 48261835
22 COL1A1 NM_000088.3(COL1A1): c.*1028_*1029delTG deletion Uncertain significance rs878983048 GRCh38 Chromosome 17, 50184473: 50184474
23 COL1A1 NM_000088.3(COL1A1): c.*744C> T single nucleotide variant Likely benign rs1061947 GRCh37 Chromosome 17, 48262119: 48262119
24 COL1A1 NM_000088.3(COL1A1): c.*744C> T single nucleotide variant Likely benign rs1061947 GRCh38 Chromosome 17, 50184758: 50184758
25 COL1A1 NM_000088.3(COL1A1): c.*631G> A single nucleotide variant Uncertain significance rs569577942 GRCh38 Chromosome 17, 50184871: 50184871
26 COL1A1 NM_000088.3(COL1A1): c.*631G> A single nucleotide variant Uncertain significance rs569577942 GRCh37 Chromosome 17, 48262232: 48262232
27 COL1A1 NM_000088.3(COL1A1): c.*242_*244dupAAA duplication Uncertain significance rs56302025 GRCh38 Chromosome 17, 50185258: 50185260
28 COL1A1 NM_000088.3(COL1A1): c.*242_*244dupAAA duplication Uncertain significance rs56302025 GRCh37 Chromosome 17, 48262619: 48262621
29 COL1A1 NM_000088.3(COL1A1): c.3630C> T (p.His1210=) single nucleotide variant Uncertain significance rs745320719 GRCh38 Chromosome 17, 50186824: 50186824
30 COL1A1 NM_000088.3(COL1A1): c.3630C> T (p.His1210=) single nucleotide variant Uncertain significance rs745320719 GRCh37 Chromosome 17, 48264185: 48264185
31 COL1A1 NM_000088.3(COL1A1): c.3424-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs370865189 GRCh38 Chromosome 17, 50187128: 50187128
32 COL1A1 NM_000088.3(COL1A1): c.3424-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs370865189 GRCh37 Chromosome 17, 48264489: 48264489
33 COL1A1 NM_000088.3(COL1A1): c.3099+7T> G single nucleotide variant Uncertain significance rs201682029 GRCh37 Chromosome 17, 48266096: 48266096
34 COL1A1 NM_000088.3(COL1A1): c.3099+7T> G single nucleotide variant Uncertain significance rs201682029 GRCh38 Chromosome 17, 50188735: 50188735
35 COL1A1 NM_000088.3(COL1A1): c.2613+14G> A single nucleotide variant Benign/Likely benign rs41316685 GRCh37 Chromosome 17, 48267206: 48267206
36 COL1A1 NM_000088.3(COL1A1): c.2613+14G> A single nucleotide variant Benign/Likely benign rs41316685 GRCh38 Chromosome 17, 50189845: 50189845
37 COL1A1 NM_000088.3(COL1A1): c.1002+10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs368316440 GRCh37 Chromosome 17, 48273506: 48273506
38 COL1A1 NM_000088.3(COL1A1): c.1002+10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs368316440 GRCh38 Chromosome 17, 50196145: 50196145
39 COL1A1 NM_000088.3(COL1A1): c.957+15C> T single nucleotide variant Uncertain significance rs779096006 GRCh37 Chromosome 17, 48273660: 48273660
40 COL1A1 NM_000088.3(COL1A1): c.957+15C> T single nucleotide variant Uncertain significance rs779096006 GRCh38 Chromosome 17, 50196299: 50196299
41 COL1A1 NM_000088.3(COL1A1): c.627C> T (p.Gly209=) single nucleotide variant Conflicting interpretations of pathogenicity rs201136122 GRCh37 Chromosome 17, 48275325: 48275325
42 COL1A1 NM_000088.3(COL1A1): c.627C> T (p.Gly209=) single nucleotide variant Conflicting interpretations of pathogenicity rs201136122 GRCh38 Chromosome 17, 50197964: 50197964
43 COL1A1 NM_000088.3(COL1A1): c.528C> T (p.Ser176=) single nucleotide variant Conflicting interpretations of pathogenicity rs748856187 GRCh37 Chromosome 17, 48275809: 48275809
44 COL1A1 NM_000088.3(COL1A1): c.528C> T (p.Ser176=) single nucleotide variant Conflicting interpretations of pathogenicity rs748856187 GRCh38 Chromosome 17, 50198448: 50198448
45 COL1A1 NM_000088.3(COL1A1): c.298+7C> A single nucleotide variant Benign/Likely benign rs41317345 GRCh37 Chromosome 17, 48277107: 48277107
46 COL1A1 NM_000088.3(COL1A1): c.298+7C> A single nucleotide variant Benign/Likely benign rs41317345 GRCh38 Chromosome 17, 50199746: 50199746
47 COL1A1 NM_000088.3(COL1A1): c.-115G> A single nucleotide variant Uncertain significance rs886053164 GRCh37 Chromosome 17, 48278989: 48278989
48 COL1A1 NM_000088.3(COL1A1): c.-115G> A single nucleotide variant Uncertain significance rs886053164 GRCh38 Chromosome 17, 50201628: 50201628
49 COL1A1 NM_000088.3(COL1A1): c.1233C> T (p.Phe411=) single nucleotide variant Conflicting interpretations of pathogenicity rs776387246 GRCh38 Chromosome 17, 50195298: 50195298
50 COL1A1 NM_000088.3(COL1A1): c.1233C> T (p.Phe411=) single nucleotide variant Conflicting interpretations of pathogenicity rs776387246 GRCh37 Chromosome 17, 48272659: 48272659

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.8 CD36 COL1A1 COL1A2
2
Show member pathways
11.7 ALPG ALPI ALPL ALPP
3
Show member pathways
11.6 CD36 COL1A1 COL1A2
4 11.54 COL1A1 COL1A2 F3
5
Show member pathways
11.49 ALPG ALPI ALPL
6 11.14 CD36 COL1A1 COL1A2
7 11.11 COL1A1 COL1A2
8 11.09 COL1A1 COL1A2
9 11 COL1A1 COL1A2
10 10.82 COL1A1 COL1A2
11
Show member pathways
10.72 ALPG ALPI ALPL ALPP
12 10.13 ALPG ALPI ALPL ALPP

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 9.73 ALPL CD36 COL1A1 COL1A2 F3 FAM20C
2 extracellular region GO:0005576 9.7 ALPG ALPI ALPL COL1A1 COL1A2 F3
3 collagen-containing extracellular matrix GO:0062023 9.5 COL1A1 COL1A2 F3
4 anchored component of membrane GO:0031225 9.26 ALPG ALPI ALPL ALPP
5 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 blood coagulation GO:0007596 9.46 CD36 COL1A1 COL1A2 F3
2 collagen fibril organization GO:0030199 9.43 COL1A1 COL1A2
3 biomineral tissue development GO:0031214 9.4 ALPL FAM20C
4 endochondral ossification GO:0001958 9.37 ALPL COL1A1
5 protein heterotrimerization GO:0070208 9.32 COL1A1 COL1A2
6 skin morphogenesis GO:0043589 9.26 COL1A1 COL1A2
7 dephosphorylation GO:0016311 9.26 ALPG ALPI ALPL ALPP
8 skeletal system development GO:0001501 8.92 ALPL COL1A1 COL1A2 FAM20C

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 ALPG ALPI ALPL ALPP
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL1A1 COL1A2
3 platelet-derived growth factor binding GO:0048407 9.26 COL1A1 COL1A2
4 protease binding GO:0002020 9.26 ALPI COL1A1 COL1A2 F3
5 alkaline phosphatase activity GO:0004035 8.92 ALPG ALPI ALPL ALPP

Sources for Caffey Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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