MCID: KNN002
MIFTS: 23

Kenny-Caffey Syndrome

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

Aliases & Classifications for Kenny-Caffey Syndrome

MalaCards integrated aliases 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
UMLS via Orphanet 70 C0265291
ICD10 via Orphanet 34 Q87.1

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 Chaperonin-mediated protein folding and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Affiliated tissues include bone.

Related Diseases for Kenny-Caffey Syndrome

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

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 28)
id Title Authors Year
1
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. ( 28138333 )
2017
2
Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype. ( 26029652 )
2015
3
Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. ( 24635597 )
2014
4
Kenny-Caffey syndrome type 1. ( 24982829 )
2014
5
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. ( 23996431 )
2013
6
Kenny-Caffey syndrome type 1 in an Egyptian girl. ( 23087875 )
2012
7
Oral manifestations of patients with Kenny-Caffey Syndrome. ( 22522175 )
2012
8
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. ( 19554981 )
2009
9
Pseudopapilledema in Kenny-Caffey Syndrome. ( 19791716 )
2009
10
Characterization of optical coherence topography findings in Kenny-Caffey syndrome. ( 17360206 )
2007
11
Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy. ( 18482522 )
2007
12
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. ( 12389028 )
2002
13
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. ( 10712106 )
2000
14
Kenny-Caffey syndrome: an Arab variant? ( 10066031 )
1999
15
Kenny-Caffey syndrome. Case report. ( 9717553 )
1998
16
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9475091 )
1998
17
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863612 )
1998
18
Kenny-Caffey syndrome and microorchidism. ( 9805124 )
1998
19
Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. ( 9863613 )
1998
20
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. ( 9806825 )
1998
21
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863611 )
1998
22
Kenny-Caffey syndrome without the CATCH 22 deletion. ( 9863610 )
1998
23
Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. ( 9056548 )
1997
24
Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask. ( 8732617 )
1996
25
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. ( 1308349 )
1992
26
Tracheobronchiomegaly. The Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome. ( 1643956 )
1992
27
Kenny-Caffey syndrome. Case report and literature review. ( 2649298 )
1989
28
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

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 microtubule GO:0005874 8.62 TBCE TUBA1B

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

id Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 8.62 TBCE TUBA1B

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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