MCID: KNN002
MIFTS: 24

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 59 37 29 73
Kenny Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
kenny-caffey syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA2333
MESH via Orphanet 45 C537020
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 74 C0265291
KEGG 37 H00619
UMLS 73 C0265291

Summaries for Kenny-Caffey Syndrome

MalaCards based summary : Kenny-Caffey Syndrome, also known as kenny syndrome, is related to hypoparathyroidism and kenny-caffey syndrome, type 2. 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.

Wikipedia : 76 Kenny-Caffey syndrome is a rare genetic condition causing skeletal abnormalities. Individuals with the... more...

Related Diseases for Kenny-Caffey Syndrome

Diseases in the Kenny-Caffey Syndrome family:

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

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

# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism 28.9 FAM111A TBCE
2 kenny-caffey syndrome, type 2 12.8
3 kenny-caffey syndrome, type 1 12.8
4 gracile bone dysplasia 11.4
5 acrocephalopolysyndactyly type iii 10.3
6 sakati syndrome 10.3
7 pseudopapilledema 10.2
8 laryngitis 10.2
9 mounier-kuhn syndrome 10.2
10 hypoparathyroidism-retardation-dysmorphism syndrome 8.5 FAM111A TBCE TUBA1B

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



Diseases related to Kenny-Caffey Syndrome

Symptoms & Phenotypes for Kenny-Caffey Syndrome

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:

# Genetic test Affiliating Genes
1 Kenny-Caffey Syndrome 29

Anatomical Context for Kenny-Caffey Syndrome

MalaCards organs/tissues related to Kenny-Caffey Syndrome:

41
Bone

Publications for Kenny-Caffey Syndrome

Articles related to Kenny-Caffey Syndrome:

(show all 28)
# 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
Kenny-Caffey syndrome type 1. ( 24982829 )
2014
4
Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. ( 24635597 )
2014
5
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. ( 23996431 )
2013
6
Oral manifestations of patients with Kenny-Caffey Syndrome. ( 22522175 )
2012
7
Kenny-Caffey syndrome type 1 in an Egyptian girl. ( 23087875 )
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
Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy. ( 18482522 )
2007
11
Characterization of optical coherence topography findings in Kenny-Caffey syndrome. ( 17360206 )
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
Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. ( 9863613 )
1998
16
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9475091 )
1998
17
Kenny-Caffey syndrome. Case report. ( 9717553 )
1998
18
Kenny-Caffey syndrome without the CATCH 22 deletion. ( 9863610 )
1998
19
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863612 )
1998
20
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. ( 9806825 )
1998
21
Kenny-Caffey syndrome and microorchidism. ( 9805124 )
1998
22
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863611 )
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:

# 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:

# 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
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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