KCS1
MCID: KNN009
MIFTS: 34

Kenny-Caffey Syndrome, Type 1 (KCS1)

Categories: Bone diseases, Endocrine 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 56 39 71
Kenny-Caffey Syndrome Type 1 52 29 6
Kcs1 56 52 73
Kenny-Caffey Syndrome, Autosomal Recessive 56 52
Kcs 56 73
Autosomal Recessive Kenny-Caffey Syndrome 58
Kenny-Caffey Syndrome Autosomal Recessive 73
Kenny-Caffey Syndrome 1 73
Kenny-Caffey Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

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

UniProtKB/Swiss-Prot : 73 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

Diseases in the Kenny-Caffey Syndrome family:

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

Diseases related to Kenny-Caffey Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 keratoconjunctivitis sicca 12.0
2 keratoconus 12.0
3 dry eye syndrome 11.5
4 kenny-caffey syndrome, type 2 11.3
5 keratoconus posticus circumscriptus 11.2
6 kenny-caffey syndrome 10.6
7 endosteal hyperostosis, autosomal dominant 10.6
8 hypoparathyroidism 10.5
9 keratoconjunctivitis 10.4
10 basal ganglia calcification, idiopathic, 1 10.4
11 autosomal recessive disease 10.4
12 bacterial infectious disease 10.4
13 acrocephalopolysyndactyly type iii 10.4
14 hypoparathyroidism-retardation-dysmorphism syndrome 10.4
15 microcephaly 10.4
16 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.4
17 obsolete: sakati-nyhan syndrome 10.4
18 pancreatic cancer 10.3
19 fungal meningitis 10.3
20 cytokine deficiency 10.2
21 neutrophil migration 10.2
22 pertussis 10.2
23 glomerulonephritis 10.2
24 conjunctivitis 10.2
25 autoimmune disease 10.1
26 sjogren syndrome 10.1
27 adult respiratory distress syndrome 10.1
28 newborn respiratory distress syndrome 10.1
29 diarrhea 10.1
30 vaccinia 10.1
31 peritonitis 10.1
32 allergic encephalomyelitis 10.1
33 arteries, anomalies of 9.9
34 atherosclerosis susceptibility 9.9
35 cardiac arrhythmia 9.9
36 multiple sclerosis 9.9
37 exudative vitreoretinopathy 1 9.9
38 huntington disease 9.9
39 immunoglobulin switch sequences 9.9
40 keratitis, hereditary 9.9
41 enterocolitis 9.9
42 krabbe disease 9.9
43 myeloma, multiple 9.9
44 proteasome-associated autoinflammatory syndrome 1 9.9
45 dermatitis, atopic 9.9
46 aspergillosis 9.9
47 pachyonychia congenita 3 9.9
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
49 hyperlipoproteinemia, type iii 9.9
50 chlamydia pneumonia 9.9

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

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

Neurologic Central Nervous System:
tetany
hypocalcemic seizure

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

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 Kenny-Caffey Syndrome Type 1 29 TBCE

Anatomical Context for Kenny-Caffey Syndrome, Type 1

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

40
Bone, Eye

Publications for Kenny-Caffey Syndrome, Type 1

Articles related to Kenny-Caffey Syndrome, Type 1:

(show all 48)
# Title Authors PMID Year
1
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 56 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. 56
9806825 1998
4
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. 56
9475091 1998
5
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. 56
1308349 1992
6
Kenny syndrome: description of additional abnormalities and molecular studies. 56
2843457 1988
7
[Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)]. 56
7406361 1980
8
Impaired GCR1 transcription resulted in defective inositol levels, vacuolar structure and autophagy in Saccharomyces cerevisiae. 61
30879088 2019
9
AKR2A participates in the regulation of cotton fibre development by modulating biosynthesis of very-long-chain fatty acids. 61
31350932 2019
10
Inositol polyphosphates regulate and predict yeast pseudohyphal growth phenotypes. 61
29939992 2018
11
Role of the inositol pyrophosphate multikinase Kcs1 in Cryptococcus inositol metabolism. 61
29357302 2018
12
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
13
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
14
[PSI+] prion propagation is controlled by inositol polyphosphates. 61
28923943 2017
15
Very-long-chain fatty acids restrict regeneration capacity by confining pericycle competence for callus formation in Arabidopsis. 61
27092001 2016
16
Identification of a major IP5 kinase in Cryptococcus neoformans confirms that PP-IP5/IP7, not IP6, is essential for virulence. 61
27033523 2016
17
Inositol pyrophosphates modulate cell cycle independently of alteration in telomere length. 61
26446451 2016
18
Fungal Inositol Pyrophosphate IP7 Is Crucial for Metabolic Adaptation to the Host Environment and Pathogenicity. 61
26037119 2015
19
VIH2 Regulates the Synthesis of Inositol Pyrophosphate InsP8 and Jasmonate-Dependent Defenses in Arabidopsis. 61
25901085 2015
20
Inositol pyrophosphates regulate RNA polymerase I-mediated rRNA transcription in Saccharomyces cerevisiae. 61
25423617 2015
21
Kenny-Caffey syndrome type 1. 61
24982829 2014
22
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. 61
23996431 2014
23
Regulation of inositol metabolism is fine-tuned by inositol pyrophosphates in Saccharomyces cerevisiae. 61
23824185 2013
24
Inositol pyrophosphates modulate S phase progression after pheromone-induced arrest in Saccharomyces cerevisiae. 61
23179856 2013
25
KCS1 deletion in Saccharomyces cerevisiae leads to a defect in translocation of autophagic proteins and reduces autophagosome formation. 61
22889849 2012
26
Kenny-Caffey syndrome type 1 in an Egyptian girl. 61
23087875 2012
27
Inhibition of saturated very-long-chain fatty acid biosynthesis by mefluidide and perfluidone, selective inhibitors of 3-ketoacyl-CoA synthases. 61
22284369 2012
28
rDNA ITS sequences among morphotypes of Keratell cochlearis, Keratell quadrata and Brachionus forficula (Rotifera). 61
22576835 2012
29
Transcriptional control of genes involved in yeast phospholipid biosynthesis. 61
21538248 2011
30
Overexpression of the Brassica napus BnLAS gene in Arabidopsis affects plant development and increases drought tolerance. 61
20976458 2011
31
Inositol pyrophosphates modulate hydrogen peroxide signalling. 61
19614566 2009
32
Characterization of a selective inhibitor of inositol hexakisphosphate kinases: use in defining biological roles and metabolic relationships of inositol pyrophosphates. 61
19208622 2009
33
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
34
Genetic interaction between ribosome biogenesis and inositol polyphosphate metabolism in Saccharomyces cerevisiae. 61
19202276 2009
35
The extracellular EXO protein mediates cell expansion in Arabidopsis leaves. 61
19216774 2009
36
Nutrient-regulated antisense and intragenic RNAs modulate a signal transduction pathway in yeast. 61
19108609 2008
37
Regulation of telomere length by fatty acid elongase 3 in yeast. Involvement of inositol phosphate metabolism and Ku70/80 function. 61
18694931 2008
38
Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. 61
17690096 2007
39
Substrate specificity of Arabidopsis 3-ketoacyl-CoA synthases. 61
16765910 2006
40
Plc1p, Arg82p, and Kcs1p, enzymes involved in inositol pyrophosphate synthesis, are essential for phosphate regulation and polyphosphate accumulation in Saccharomyces cerevisiae. 61
15866881 2005
41
Molecular definition of a novel inositol polyphosphate metabolic pathway initiated by inositol 1,4,5-trisphosphate 3-kinase activity in Saccharomyces cerevisiae. 61
15944147 2005
42
Inositol diphosphate signaling regulates telomere length. 61
15561716 2005
43
Specific and differential inhibition of very-long-chain fatty acid elongases from Arabidopsis thaliana by different herbicides. 61
15277688 2004
44
EXORDIUM regulates brassinosteroid-responsive genes. 61
15063727 2004
45
WIN1, a transcriptional activator of epidermal wax accumulation in Arabidopsis. 61
15070782 2004
46
Active-site residues of a plant membrane-bound fatty acid elongase beta-ketoacyl-CoA synthase, FAE1 KCS. 61
11341960 2001
47
KCS1 encodes a fatty acid elongase 3-ketoacyl-CoA synthase affecting wax biosynthesis in Arabidopsis thaliana. 61
10074711 1999
48
Suppressors of a Saccharomyces cerevisiae pkc1 mutation identify alleles of the phosphatase gene PTC1 and of a novel gene encoding a putative basic leucine zipper protein. 61
8601473 1995

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 GRCh37 Pos GRCh38 Pos
1 TBCE NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del)deletion Pathogenic/Likely pathogenic 5290 rs767004810 1:235564872-235564883 1:235401557-235401568
2 TBCE NM_003193.5(TBCE):c.143_144del (p.Lys48fs)deletion Likely pathogenic 225483 rs758937799 1:235564860-235564861 1:235401545-235401546

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
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29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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