MCID: KNN002
MIFTS: 27

Kenny-Caffey Syndrome

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

Aliases & Classifications for Kenny-Caffey Syndrome

MalaCards integrated aliases for Kenny-Caffey Syndrome:

Name: Kenny-Caffey Syndrome 60 38 30 74
Kenny Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
kenny-caffey syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

KEGG 38 H00619
MESH via Orphanet 46 C537020
ICD10 via Orphanet 35 Q87.1
UMLS via Orphanet 75 C0265291
Orphanet 60 ORPHA2333
UMLS 74 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 : 77 Kenny-Caffey syndrome is a rare genetic condition causing skeletal abnormalities. Individuals with the... more...

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

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 30

Anatomical Context for Kenny-Caffey Syndrome

MalaCards organs/tissues related to Kenny-Caffey Syndrome:

42
Bone

Publications for Kenny-Caffey Syndrome

Articles related to Kenny-Caffey Syndrome:

(show all 35)
# 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
Peripapillary choroidal neovascularization associated with kenny syndrome. ( 25390917 )
2010
9
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. ( 19554981 )
2009
10
Pseudopapilledema in Kenny-Caffey Syndrome. ( 19791716 )
2009
11
Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy. ( 18482522 )
2007
12
Characterization of optical coherence topography findings in Kenny-Caffey syndrome. ( 17360206 )
2007
13
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. ( 12389028 )
2002
14
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. ( 10712106 )
2000
15
Kenny-Caffey syndrome: an Arab variant? ( 10066031 )
1999
16
Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. ( 9863613 )
1998
17
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9475091 )
1998
18
Kenny-Caffey syndrome. Case report. ( 9717553 )
1998
19
Kenny-Caffey syndrome without the CATCH 22 deletion. ( 9863610 )
1998
20
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863612 )
1998
21
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. ( 9806825 )
1998
22
Kenny-Caffey syndrome and microorchidism. ( 9805124 )
1998
23
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. ( 9863611 )
1998
24
Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. ( 9056548 )
1997
25
Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask. ( 8732617 )
1996
26
Kenny syndrome: case report and literature review. ( 8961678 )
1996
27
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. ( 1308349 )
1992
28
Tracheobronchiomegaly. The Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome. ( 1643956 )
1992
29
Kenny-Caffey syndrome. Case report and literature review. ( 2649298 )
1989
30
Kenny syndrome: description of additional abnormalities and molecular studies. ( 2843457 )
1988
31
Congenital medullary tubular stenosis. A case of Caffey-Kenny syndrome. ( 3381667 )
1988
32
Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. ( 3746537 )
1986
33
The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. ( 6342392 )
1983
34
The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction. ( 7215388 )
1981
35
Dwarfism and congenital medullary stenosis (Kenny syndrome). ( 4156651 )
1974

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 ribosome GO:0005840 9.16 ENSG00000285053 TBCE
2 cytoskeleton GO:0005856 9.13 ENSG00000285053 TBCE TUBA1B
3 microtubule GO:0005874 8.8 ENSG00000285053 TBCE TUBA1B

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.32 ENSG00000285053 TBCE
2 protein folding GO:0006457 9.26 ENSG00000285053 TBCE
3 microtubule cytoskeleton organization GO:0000226 9.16 TBCE TUBA1B
4 mitotic spindle organization GO:0007052 8.96 ENSG00000285053 TBCE
5 post-chaperonin tubulin folding pathway GO:0007023 8.62 ENSG00000285053 TBCE

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.96 ENSG00000285053 TBCE
2 chaperone binding GO:0051087 8.62 ENSG00000285053 TBCE

Sources for Kenny-Caffey Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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