MCID: KNN002
MIFTS: 41

Kenny-Caffey Syndrome malady

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

Aliases & Classifications for Kenny-Caffey Syndrome

Aliases & Descriptions for Kenny-Caffey Syndrome:

Name: Kenny-Caffey Syndrome 56 29 69
Kenny Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
kenny-caffey syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA2333
MESH via Orphanet 43 C537020
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 70 C0265291

Summaries for Kenny-Caffey Syndrome

MalaCards based summary : Kenny-Caffey Syndrome, also known as kenny syndrome, is related to kenny-caffey syndrome, type 2 and kenny-caffey syndrome, type 1, and has symptoms including seizures An important gene associated with Kenny-Caffey Syndrome is FAM111A (Family With Sequence Similarity 111 Member A), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone, and related phenotypes are hematopoietic system and homeostasis/metabolism

Related Diseases for Kenny-Caffey Syndrome

Diseases in the Kenny-Caffey Syndrome family:

Kenny-Caffey Syndrome, Type 1 Kenny-Caffey Syndrome, Type 2

Diseases related to Kenny-Caffey Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
id Related Disease Score Top Affiliating Genes
1 kenny-caffey syndrome, type 2 12.7
2 kenny-caffey syndrome, type 1 12.7
3 nemaline myopathy 3, autosomal dominant or recessive 10.3 FAM111A TBCE TUBA1B
4 refractory celiac disease 10.3 IL10 TGFB1
5 parasitic ichthyosporea infectious disease 10.3 CD4 TLR4 TNF
6 pyridoxal 5'-phosphate-dependent epilepsy 10.2 IL10 TNF
7 intussusception 10.2 IL1B TNF
8 hypoparathyroidism 10.2
9 sakati syndrome 10.2
10 vps11-related autosomal recessive hypomyelinating leukodystrophy 10.2 IL6 TNF
11 aortic coarctation 10.2 IL6 TLR4 TNF
12 preaxial polydactyly of fingers 10.2 IL6 TGFB1 TNF
13 coronary arterial fistulas 10.2 IL10 LTF TLR4
14 tubular renal disease-cardiomyopathy syndrome 10.2 IL10 TNF
15 vestibule of mouth cancer 10.2 CD4 IL10 TNF
16 hereditary night blindness 10.2 IL6 TGFB1 TNF
17 crohn's colitis 10.2 IL6 TLR4 TNF
18 congenital hypothyroidism 10.2 CD4 IL10 TNF
19 sarcomatoid transitional cell carcinoma 10.2 CD4 IL10 TNF
20 orbital disease 10.2 CD4 CDSN
21 plantar wart 10.2 IL10 TGFB1 TNF
22 tularemia 10.2 CD4 IL10 TNF
23 cryptococcosis 10.2 CD4 IL10 TNF
24 carotenemia 10.2 CD4 IL6 TNF
25 bullous retinoschisis 10.2 CD4 IL1B IL6
26 abnormal retinal correspondence 10.2 IL10 TLR4 TNF
27 carbuncle 10.2 CD4 IL1B IL6
28 larynx leiomyoma 10.2 IL1B IL6 TLR4
29 gastric leiomyoma 10.1 IL1B IL6 TLR4
30 usher syndrome, type 2a 10.1 IL10 IL6 TLR4
31 wound botulism 10.1 CD4 IL1B TNF
32 peripheral artery disease 10.1 IL10 TGFB1 TNF
33 cyclosporiasis 10.1 IL10 IL6 TNF
34 ovarian cystic teratoma 10.1 IL1B TLR4 TNF
35 motor peripheral neuropathy 10.1 CD4 IL10 TNF
36 trichomalacia 10.1 IL10 IL6 TNF
37 conduct disorder 10.1 IL10 IL6 TNF
38 gastric dilatation 10.1 IL10 IL6 TNF
39 primary ciliary dyskinesia 10.1 IL10 IL6 TNF
40 megaloblastic anemia 10.1 IL10 IL1B TLR4
41 bipolar i disorder 10.1 IL1B IL6 TNF
42 hereditary alpha tryptasemia syndrome 10.1 IL10 IL6 TNF
43 tinea capitis 10.1 IL1B IL6 TNF
44 hepatitis 10.1 IL10 IL6 TNF
45 measles 10.1 IL1B IL6 TNF
46 dextrocardia 10.1 IL1B IL6 TNF
47 erb-duchenne and dejerine-klumpke palsies 10.1 IL10 IL6 TNF
48 steroid dehydrogenase deficiency dental anomalies 10.1 IL1B IL6 TNF
49 splenic marginal zone lymphoma 10.1 IL6 TGFB1 TNF
50 acquired thrombocytopenia 10.1 IL1B IL6 TNF

Graphical network of the top 20 diseases related to Kenny-Caffey Syndrome:



Diseases related to Kenny-Caffey Syndrome

Symptoms & Phenotypes for Kenny-Caffey Syndrome

UMLS symptoms related to Kenny-Caffey Syndrome:


seizures

MGI Mouse Phenotypes related to Kenny-Caffey Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.25 CD4 IL1B CLEC4F IL6 HSPG2 KRT1
2 homeostasis/metabolism MP:0005376 10.22 IL10 CD4 IL1B GJB6 IL6 HSPG2
3 immune system MP:0005387 10.21 LTF CD4 IL1B CLEC4F GJB6 IL6
4 cardiovascular system MP:0005385 10.18 KRT1 IL10 IL1B GJB6 IL6 HSPG2
5 integument MP:0010771 10.06 CD4 IL1B GJB6 IL6 HSPG2 KRT1
6 digestive/alimentary MP:0005381 10 IL10 CD4 IL6 HSPG2 TLR4 TNF
7 liver/biliary system MP:0005370 9.8 IL10 IL6 HSPG2 LTF TNF TGFB1
8 neoplasm MP:0002006 9.7 IL10 IL1B IL6 TNF LTF TGFB1
9 nervous system MP:0003631 9.7 KRT1 IL10 CD4 IL1B GJB6 IL6
10 respiratory system MP:0005388 9.17 IL10 IL6 HSPG2 TBCE TNF TGFB1

Drugs & Therapeutics for Kenny-Caffey Syndrome

Search Clinical Trials , NIH Clinical Center for Kenny-Caffey Syndrome

Genetic Tests for Kenny-Caffey Syndrome

Genetic tests related to Kenny-Caffey Syndrome:

id Genetic test Affiliating Genes
1 Kenny-Caffey Syndrome 29

Anatomical Context for Kenny-Caffey Syndrome

MalaCards organs/tissues related to Kenny-Caffey Syndrome:

39
Bone

Publications for Kenny-Caffey Syndrome

Articles related to Kenny-Caffey Syndrome:

(show all 27)
id Title Authors Year
1
Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype. ( 26029652 )
2015
2
Kenny-Caffey syndrome type 1. ( 24982829 )
2014
3
Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. ( 24635597 )
2014
4
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. ( 23996431 )
2013
5
Oral manifestations of patients with Kenny-Caffey Syndrome. ( 22522175 )
2012
6
Kenny-Caffey syndrome type 1 in an Egyptian girl. ( 23087875 )
2012
7
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. ( 19554981 )
2009
8
Pseudopapilledema in Kenny-Caffey Syndrome. ( 19791716 )
2009
9
Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy. ( 18482522 )
2007
10
Characterization of optical coherence topography findings in Kenny-Caffey syndrome. ( 17360206 )
2007
11
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. ( 12389028 )
2002
12
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. ( 10712106 )
2000
13
Kenny-Caffey syndrome: an Arab variant? ( 10066031 )
1999
14
Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. ( 9863613 )
1998
15
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9475091 )
1998
16
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863611 )
1998
17
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. ( 9806825 )
1998
18
Kenny-Caffey syndrome without the CATCH 22 deletion. ( 9863610 )
1998
19
Kenny-Caffey syndrome and microorchidism. ( 9805124 )
1998
20
Kenny-Caffey syndrome. Case report. ( 9717553 )
1998
21
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863612 )
1998
22
Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. ( 9056548 )
1997
23
Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask. ( 8732617 )
1996
24
Tracheobronchiomegaly. The Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome. ( 1643956 )
1992
25
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. ( 1308349 )
1992
26
Kenny-Caffey syndrome. Case report and literature review. ( 2649298 )
1989
27
The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. ( 6342392 )
1983

Variations for Kenny-Caffey Syndrome

Expression for Kenny-Caffey Syndrome

Search GEO for disease gene expression data for Kenny-Caffey Syndrome.

Pathways for Kenny-Caffey Syndrome

Pathways related to Kenny-Caffey Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 CD4 IL10 IL1B IL6 TGFB1 TLR4
2
Show member pathways
13.37 CD4 IL10 IL1B IL6 TGFB1 TNF
3
Show member pathways
13.31 CD4 IL10 IL1B IL6 TGFB1 TNF
4
Show member pathways
12.93 HSPG2 IL10 IL1B IL6 TGFB1 TLR4
5
Show member pathways
12.86 CD4 IL10 IL1B IL6 TGFB1 TNF
6
Show member pathways
12.71 IL1B IL6 TGFB1 TLR4 TNF
7
Show member pathways
12.59 CD4 IL10 IL1B IL6 TNF
8
Show member pathways
12.56 CD4 IL10 IL1B IL6 TGFB1 TLR4
9
Show member pathways
12.45 CD4 IL10 IL1B IL6 TGFB1 TNF
10 12.3 HSPG2 TGFB1 TLR4 TNF
11
Show member pathways
12.29 IL10 IL1B TGFB1 TLR4 TNF
12
Show member pathways
12.28 IL1B IL6 TLR4 TNF
13
Show member pathways
12.2 IL1B IL6 TLR4 TNF
14 12.2 IL6 TGFB1 TLR4 TNF
15 12.19 IL10 IL1B IL6 TNF
16 12.19 IL10 IL1B IL6 TGFB1 TLR4 TNF
17
Show member pathways
12.16 IL10 IL1B IL6 TNF
18 12.02 IL1B IL6 TGFB1 TLR4 TNF
19 12.01 CD4 IL10 IL6 TNF
20 11.99 IL10 IL1B IL6 TGFB1 TNF
21 11.93 IL1B IL6 TGFB1 TNF
22 11.92 CD4 IL1B IL6 TNF
23
Show member pathways
11.92 CD4 IL1B IL6 TGFB1 TLR4
24 11.85 KRT1 TGFB1 TLR4
25
Show member pathways
11.85 IL6 TGFB1 TLR4
26 11.85 IL1B IL6 TGFB1 TLR4 TNF
27 11.83 CD4 IL10 IL1B TNF
28 11.83 IL10 IL1B IL6 TGFB1 TLR4 TNF
29 11.81 IL1B IL6 TLR4
30 11.73 CD4 TLR4 TNF
31 11.71 IL10 IL1B IL6 TLR4 TNF
32 11.69 IL1B IL6 TGFB1 TNF
33
Show member pathways
11.67 IL1B IL6 TNF
34 11.65 IL10 IL6 TGFB1 TLR4 TNF
35 11.63 IL1B IL6 TLR4 TNF
36 11.61 CD4 IL10 IL1B IL6 TGFB1 TNF
37 11.56 IL10 IL1B IL6 TNF
38 11.53 IL1B TGFB1 TNF
39 11.53 IL1B TLR4 TNF
40
Show member pathways
11.53 CD4 IL10 IL1B IL6 TGFB1 TLR4
41 11.5 IL1B IL6 TNF
42
Show member pathways
11.44 IL10 TGFB1 TNF
43 11.37 IL10 IL1B IL6 TNF
44 11.33 IL1B IL6 TNF
45 11.32 IL10 IL1B IL6 TGFB1 TLR4 TNF
46 11.31 IL1B IL6 TNF
47 11.26 IL10 IL1B IL6 TLR4 TNF
48 11.24 IL10 IL1B IL6 TNF TNFSF18
49 10.95 IL1B IL6 TGFB1
50 10.86 TGFB1 TNF

GO Terms for Kenny-Caffey Syndrome

Cellular components related to Kenny-Caffey Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.56 CD4 IL6 TLR4 TNF
2 cell surface GO:0009986 9.43 CD4 LTF TGFB1 TLR4 TNF TNFSF18
3 secretory granule GO:0030141 9.33 IL1B LTF TGFB1
4 extracellular space GO:0005615 9.28 HSPG2 IL10 IL1B IL6 KRT1 LTF

Biological processes related to Kenny-Caffey Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
id Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 9.99 IL10 LTF TLR4 TNF
2 inflammatory response GO:0006954 9.99 IL10 IL1B IL6 TGFB1 TLR4 TNF
3 aging GO:0007568 9.97 GJB6 IL10 IL6 TGFB1
4 positive regulation of protein phosphorylation GO:0001934 9.94 CD4 IL1B TGFB1 TNF
5 cellular response to lipopolysaccharide GO:0071222 9.9 IL10 IL6 TLR4 TNF
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.89 CD4 IL6 TGFB1
7 positive regulation of protein kinase B signaling GO:0051897 9.89 IL6 TGFB1 TNF
8 cellular response to mechanical stimulus GO:0071260 9.89 IL1B TGFB1 TLR4
9 response to lipopolysaccharide GO:0032496 9.89 GJB6 IL10 IL1B IL6 TLR4
10 cellular response to organic cyclic compound GO:0071407 9.88 IL1B TGFB1 TNF
11 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.88 IL6 TGFB1 TNF
12 response to glucocorticoid GO:0051384 9.88 IL10 IL6 TNF
13 positive regulation of JNK cascade GO:0046330 9.87 IL1B TLR4 TNF
14 positive regulation of T cell proliferation GO:0042102 9.85 CD4 IL1B IL6
15 humoral immune response GO:0006959 9.85 IL6 LTF TNF
16 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 CD4 IL6 TGFB1 TLR4 TNF
17 T cell activation GO:0042110 9.83 CD4 IL6 TGFB1
18 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.83 CD4 IL1B LTF TLR4 TNF
19 positive regulation of interferon-gamma production GO:0032729 9.81 IL1B TLR4 TNF
20 negative regulation of fat cell differentiation GO:0045599 9.81 IL6 TGFB1 TNF
21 negative regulation of viral genome replication GO:0045071 9.8 FAM111A LTF TNF
22 negative regulation of T cell proliferation GO:0042130 9.78 IL10 TGFB1 VSIG4
23 protein kinase B signaling GO:0043491 9.75 IL1B TGFB1 TNF
24 negative regulation of mitotic cell cycle GO:0045930 9.73 IL10 TGFB1 TNF
25 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.72 IL1B TNF
26 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.72 CD4 IL1B
27 positive regulation of interleukin-8 production GO:0032757 9.72 IL1B TLR4 TNF
28 negative regulation of interleukin-17 production GO:0032700 9.71 TGFB1 TLR4
29 positive regulation of chemokine biosynthetic process GO:0045080 9.71 IL1B TNF
30 negative regulation of interleukin-6 production GO:0032715 9.71 IL10 TLR4 TNF
31 negative regulation of lipid storage GO:0010888 9.7 IL6 TNF
32 positive regulation of viral entry into host cell GO:0046598 9.7 CD4 TRIM21
33 positive regulation of NF-kappaB import into nucleus GO:0042346 9.7 IL1B TLR4 TNF
34 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.69 TLR4 TNF
35 endothelial cell apoptotic process GO:0072577 9.68 IL10 TNF
36 positive regulation of MHC class II biosynthetic process GO:0045348 9.68 IL10 TLR4
37 regulation of establishment of endothelial barrier GO:1903140 9.67 IL1B TNF
38 defense response to Gram-negative bacterium GO:0050829 9.67 CD4 IL6 LTF TLR4
39 negative regulation of cytokine secretion involved in immune response GO:0002740 9.66 IL10 TNF
40 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.66 IL6 TNF
41 positive regulation of fever generation GO:0031622 9.65 IL1B TNF
42 positive regulation of chemokine production GO:0032722 9.65 IL6 TLR4 TNF
43 sequestering of triglyceride GO:0030730 9.62 IL1B TNF
44 positive regulation of interleukin-6 production GO:0032755 9.62 IL1B IL6 TLR4 TNF
45 positive regulation of mononuclear cell migration GO:0071677 9.61 TGFB1 TNF
46 receptor biosynthetic process GO:0032800 9.59 IL10 TNF
47 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IL1B TNF
48 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.58 IL10 IL1B TNF
49 positive regulation of nitric oxide biosynthetic process GO:0045429 9.56 IL1B IL6 TLR4 TNF
50 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.55 IL10 IL1B IL6 TNF TRIM21

Molecular functions related to Kenny-Caffey Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.1 IL10 IL1B IL6 TGFB1 TNF TNFSF18

Sources for Kenny-Caffey Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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