KCS1
MCID: KNN009
MIFTS: 34

Kenny-Caffey Syndrome, Type 1 (KCS1)

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

Aliases & Classifications for Kenny-Caffey Syndrome, Type 1

MalaCards integrated aliases for Kenny-Caffey Syndrome, Type 1:

Name: Kenny-Caffey Syndrome, Type 1 57 39 70
Autosomal Recessive Kenny-Caffey Syndrome 58 29 6
Kenny-Caffey Syndrome Type 1 12 20 15
Kcs1 57 20 72
Kenny-Caffey Syndrome, Autosomal Recessive 57 20
Kcs 57 72
Kenny-Caffey Syndrome Autosomal Recessive 72
Kenny-Caffey Syndrome 1 72
Kenny-Caffey Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive kenny-caffey syndrome
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to hypoparathyroidism-retardation-dysmorphism syndrome


HPO:

31
kenny-caffey syndrome, type 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Kenny-Caffey Syndrome, Type 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93324 Definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.

MalaCards based summary : Kenny-Caffey Syndrome, Type 1, also known as autosomal recessive kenny-caffey syndrome, is related to kenny-caffey syndrome, type 2 and kenny-caffey syndrome. An important gene associated with Kenny-Caffey Syndrome, Type 1 is TBCE (Tubulin Folding Cofactor E). Affiliated tissues include bone, and related phenotypes are congenital hypoparathyroidism and hypocalcemic seizures

Disease Ontology : 12 A Kenny-Caffey syndrome that has material basis in mutation in the gene encoding tubulin-specific chaperone E.

UniProtKB/Swiss-Prot : 72 Kenny-Caffey syndrome 1: An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face.

More information from OMIM: 244460 PS127000

Related Diseases for Kenny-Caffey Syndrome, Type 1

Graphical network of the top 20 diseases related to Kenny-Caffey Syndrome, Type 1:



Diseases related to Kenny-Caffey Syndrome, Type 1

Symptoms & Phenotypes for Kenny-Caffey Syndrome, Type 1

Human phenotypes related to Kenny-Caffey Syndrome, Type 1:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypoparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008198
2 hypocalcemic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002199
3 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
8 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
9 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
10 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
11 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
12 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
13 cortical thickening of long bone diaphyses 58 31 frequent (33%) Frequent (79-30%) HP:0005791
14 decreased skull ossification 58 31 frequent (33%) Frequent (79-30%) HP:0004331
15 thin ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000883
16 hypocalcemic tetany 58 31 frequent (33%) Frequent (79-30%) HP:0003472
17 calvarial osteosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0005450
18 thin long bone diaphyses 58 31 frequent (33%) Frequent (79-30%) HP:0006470
19 thin clavicles 58 31 frequent (33%) Frequent (79-30%) HP:0006645
20 stenosis of the medullary cavity of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0100254
21 hypocalcemia 58 31 Very frequent (99-80%) HP:0002901
22 anemia 31 HP:0001903
23 growth delay 58 Frequent (79-30%)
24 slender long bone 31 HP:0003100
25 tetany 31 HP:0001281
26 short palm 31 HP:0004279
27 proportionate short stature 31 HP:0003508
28 hypomagnesemia 31 HP:0002917
29 delayed closure of the anterior fontanelle 31 HP:0001476
30 recurrent bacterial infections 31 HP:0002718
31 birth length less than 3rd percentile 31 HP:0003561
32 long clavicles 31 HP:0000890
33 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
tetany
hypocalcemic seizure

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
thin, long clavicles

Skeletal Skull:
calvarial osteosclerosis
poorly ossified skull bones
absent diploic space

Skeletal Hands:
small hands

Head And Neck Teeth:
dental caries

Skeletal Feet:
small feet

Growth Other:
intrauterine growth failure

Head And Neck Face:
broad cheeks

Hematology:
anemia

Laboratory Abnormalities:
hypocalcemia
low to low-normal magnesium

Immunology:
recurrent bacterial infections

Skeletal:
delayed bone age

Endocrine Features:
low parathyroid hormone
neonatal hypoparathyroidism

Growth Height:
short stature, proportionate
birth length <3rd percentile

Growth Weight:
birth weight <2,500gm

Head And Neck Head:
delayed anterior fontanelle closure

Skeletal Limbs:
medullary stenosis of tubular bones
thin long bones
internal cortical thickening

Clinical features from OMIM®:

244460 (Updated 05-Apr-2021)

Drugs & Therapeutics for Kenny-Caffey Syndrome, Type 1

Search Clinical Trials , NIH Clinical Center for Kenny-Caffey Syndrome, Type 1

Genetic Tests for Kenny-Caffey Syndrome, Type 1

Genetic tests related to Kenny-Caffey Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Autosomal Recessive Kenny-Caffey Syndrome 29 TBCE

Anatomical Context for Kenny-Caffey Syndrome, Type 1

MalaCards organs/tissues related to Kenny-Caffey Syndrome, Type 1:

40
Bone

Publications for Kenny-Caffey Syndrome, Type 1

Articles related to Kenny-Caffey Syndrome, Type 1:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 57 6
12389028 2002
2
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. 6
26336027 2015
3
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. 57
9806825 1998
4
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. 57
9475091 1998
5
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. 57
1308349 1992
6
Kenny syndrome: description of additional abnormalities and molecular studies. 57
2843457 1988
7
[Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)]. 57
7406361 1980
8
Increasing glycolysis by deletion of kcs1 and arg82 improved S-adenosyl-L-methionine production in Saccharomyces cerevisiae. 61
33464427 2021
9
The Geomagnetic Field (GMF) Modulates Nutrient Status and Lipid Metabolism during Arabidopsis thaliana Plant Development. 61
33302398 2020
10
Wax composition and concentration in jujube (Ziziphus jujuba Mill.) cultivars with differential resistance to fruit cracking. 61
33070052 2020
11
Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. 61
33010201 2020
12
Responses of cuticular waxes of faba bean to light wavelengths and selection of candidate genes for cuticular wax biosynthesis. 61
33124766 2020
13
IP7-SPX Domain Interaction Controls Fungal Virulence by Stabilizing Phosphate Signaling Machinery. 61
33082258 2020
14
Monitoring Glycolysis and Respiration Highlights Metabolic Inflexibility of Cryptococcus neoformans. 61
32839374 2020
15
AKR2A interacts with KCS1 to improve VLCFAs contents and chilling tolerance of Arabidopsis thaliana. 61
32433816 2020
16
Genome wide analysis and functional identification of MdKCS genes in apple. 61
32251955 2020
17
AKR2A participates in the regulation of cotton fibre development by modulating biosynthesis of very-long-chain fatty acids. 61
31350932 2020
18
Study on the Function of the Inositol Polyphosphate Kinases Kcs1 and Vip1 of Candida albicans in Energy Metabolism. 61
33362729 2020
19
Sphingolipids and Inositol Phosphates Regulate the Tau Protein Phosphorylation Status in Humanized Yeast. 61
33282871 2020
20
Impaired GCR1 transcription resulted in defective inositol levels, vacuolar structure and autophagy in Saccharomyces cerevisiae. 61
30879088 2019
21
Inositol polyphosphates regulate and predict yeast pseudohyphal growth phenotypes. 61
29939992 2018
22
Role of the inositol pyrophosphate multikinase Kcs1 in Cryptococcus inositol metabolism. 61
29357302 2018
23
Overexpression of ß-Ketoacyl Co-A Synthase1 Gene Improves Tolerance of Drought Susceptible Groundnut (Arachis hypogaea L.) Cultivar K-6 by Increased Leaf Epicuticular Wax Accumulation. 61
30687340 2018
24
IP3-4 kinase Arg1 regulates cell wall homeostasis and surface architecture to promote clearance of Cryptococcus neoformans infection in a mouse model. 61
28976803 2017
25
[PSI+] prion propagation is controlled by inositol polyphosphates. 61
28923943 2017
26
Very-long-chain fatty acids restrict regeneration capacity by confining pericycle competence for callus formation in Arabidopsis. 61
27092001 2016
27
Identification of a major IP5 kinase in Cryptococcus neoformans confirms that PP-IP5/IP7, not IP6, is essential for virulence. 61
27033523 2016
28
Inositol pyrophosphates modulate cell cycle independently of alteration in telomere length. 61
26446451 2016
29
Fungal Inositol Pyrophosphate IP7 Is Crucial for Metabolic Adaptation to the Host Environment and Pathogenicity. 61
26037119 2015
30
VIH2 Regulates the Synthesis of Inositol Pyrophosphate InsP8 and Jasmonate-Dependent Defenses in Arabidopsis. 61
25901085 2015
31
Inositol pyrophosphates regulate RNA polymerase I-mediated rRNA transcription in Saccharomyces cerevisiae. 61
25423617 2015
32
Kenny-Caffey syndrome type 1. 61
24982829 2014
33
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. 61
23996431 2014
34
Regulation of inositol metabolism is fine-tuned by inositol pyrophosphates in Saccharomyces cerevisiae. 61
23824185 2013
35
Inositol pyrophosphates modulate S phase progression after pheromone-induced arrest in Saccharomyces cerevisiae. 61
23179856 2013
36
KCS1 deletion in Saccharomyces cerevisiae leads to a defect in translocation of autophagic proteins and reduces autophagosome formation. 61
22889849 2012
37
Kenny-Caffey syndrome type 1 in an Egyptian girl. 61
23087875 2012
38
Inhibition of saturated very-long-chain fatty acid biosynthesis by mefluidide and perfluidone, selective inhibitors of 3-ketoacyl-CoA synthases. 61
22284369 2012
39
rDNA ITS sequences among morphotypes of Keratell cochlearis, Keratell quadrata and Brachionus forficula (Rotifera). 61
22576835 2012
40
Transcriptional control of genes involved in yeast phospholipid biosynthesis. 61
21538248 2011
41
Overexpression of the Brassica napus BnLAS gene in Arabidopsis affects plant development and increases drought tolerance. 61
20976458 2011
42
Inositol pyrophosphates modulate hydrogen peroxide signalling. 61
19614566 2009
43
Characterization of a selective inhibitor of inositol hexakisphosphate kinases: use in defining biological roles and metabolic relationships of inositol pyrophosphates. 61
19208622 2009
44
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
45
The extracellular EXO protein mediates cell expansion in Arabidopsis leaves. 61
19216774 2009
46
Genetic interaction between ribosome biogenesis and inositol polyphosphate metabolism in Saccharomyces cerevisiae. 61
19202276 2009
47
Nutrient-regulated antisense and intragenic RNAs modulate a signal transduction pathway in yeast. 61
19108609 2008
48
Regulation of telomere length by fatty acid elongase 3 in yeast. Involvement of inositol phosphate metabolism and Ku70/80 function. 61
18694931 2008
49
Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. 61
17690096 2007
50
Substrate specificity of Arabidopsis 3-ketoacyl-CoA synthases. 61
16765910 2006

Variations for Kenny-Caffey Syndrome, Type 1

ClinVar genetic disease variations for Kenny-Caffey Syndrome, Type 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBCE NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) Deletion Pathogenic 5290 rs767004810 GRCh37: 1:235564868-235564879
GRCh38: 1:235401553-235401564
2 TBCE NM_003193.5(TBCE):c.143_144del (p.Lys48fs) Deletion Likely pathogenic 225483 rs758937799 GRCh37: 1:235564860-235564861
GRCh38: 1:235401545-235401546
3 TBCE NM_003193.5(TBCE):c.355_356del (p.Ile119fs) Deletion Likely pathogenic 804381 rs1572391840 GRCh37: 1:235577916-235577917
GRCh38: 1:235414601-235414602
4 TBCE NM_003193.5(TBCE):c.100+1G>A SNV Likely pathogenic 631595 rs200356271 GRCh37: 1:235543465-235543465
GRCh38: 1:235380150-235380150

Expression for Kenny-Caffey Syndrome, Type 1

Search GEO for disease gene expression data for Kenny-Caffey Syndrome, Type 1.

Pathways for Kenny-Caffey Syndrome, Type 1

GO Terms for Kenny-Caffey Syndrome, Type 1

Sources for Kenny-Caffey Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....