KCS1
MCID: KNN009
MIFTS: 38

Kenny-Caffey Syndrome, Type 1 (KCS1)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Kenny-Caffey Syndrome, Type 1

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

Name: Kenny-Caffey Syndrome, Type 1 57 38 71
Autosomal Recessive Kenny-Caffey Syndrome 58 28 5
Kenny-Caffey Syndrome Type 1 11 19 14
Kcs1 57 19 73
Kenny-Caffey Syndrome, Autosomal Recessive 57 19
Kcs 57 73
Kenny-Caffey Syndrome Autosomal Recessive 73
Kenny-Caffey Syndrome 1 73
Kenny-Caffey Syndrome-1 12

Characteristics:


Inheritance:

Kenny-Caffey Syndrome, Type 1: Autosomal recessive 57
Autosomal Recessive Kenny-Caffey Syndrome: Autosomal recessive 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
allelic to hypoparathyroidism-retardation-dysmorphism syndrome


Classifications:

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


External Ids:

Disease Ontology 11 DOID:0080722
OMIM® 57 244460
OMIM Phenotypic Series 57 PS127000
MeSH 43 D006958
ICD10 via Orphanet 32 Q87.1
UMLS via Orphanet 72 C1855648
Orphanet 58 ORPHA93324
MedGen 40 C1855648
UMLS 71 C1855648

Summaries for Kenny-Caffey Syndrome, Type 1

GARD: 19 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 and hypoparathyroidism. An important gene associated with Kenny-Caffey Syndrome, Type 1 is TBCE (Tubulin Folding Cofactor E). Affiliated tissues include bone, bone marrow and blood and bone marrow, and related phenotypes are congenital hypoparathyroidism and hypocalcemic seizures

Orphanet: 58 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.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A Kenny-Caffey syndrome that has material basis in mutation in the gene encoding tubulin-specific chaperone E.

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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 28 TBCE

Anatomical Context for Kenny-Caffey Syndrome, Type 1

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

MalaCards : Bone, Bone Marrow
ODiseA: Blood And Bone Marrow

Publications for Kenny-Caffey Syndrome, Type 1

Articles related to Kenny-Caffey Syndrome, Type 1:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 62 57 5
12389028 2002
2
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. 62 57
9806825 1998
3
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. 5
26336027 2015
4
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. 57
9475091 1998
5
Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. 57
9056548 1997
6
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. 57
1308349 1992
7
Kenny syndrome: description of additional abnormalities and molecular studies. 57
2843457 1988
8
[Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)]. 57
7406361 1980
9
Lipid metabolism regulated by superoxide scavenger trypsin in Hylocereus undatus through multi-omics analyses. 62
35403710 2022
10
A Role for Inositol Pyrophosphates in ER Protein Translocation? 62
35552294 2022
11
Secreted acid phosphatases maintain replicative lifespan via inositol polyphosphate metabolism in budding yeast. 62
34845723 2022
12
Genome-Wide Identification and Expression Profiling of KCS Gene Family in Passion Fruit (Passiflora edulis) Under Fusarium kyushuense and Drought Stress Conditions. 62
35548275 2022
13
Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2. 62
34382758 2021
14
The PPIP5K Family Member Asp1 Controls Inorganic Polyphosphate Metabolism in S. pombe. 62
34436165 2021
15
High-Throughput Screening of an Octanoic Acid Producer Strain Library Enables Detection of New Targets for Increasing Titers in Saccharomyces cerevisiae. 62
33979526 2021
16
Identification and Analysis of GhEXO Gene Family Indicated That GhEXO7_At Promotes Plant Growth and Development Through Brassinosteroid Signaling in Cotton (Gossypium hirsutum L.). 62
34603349 2021
17
Increasing glycolysis by deletion of kcs1 and arg82 improved S-adenosyl-L-methionine production in Saccharomyces cerevisiae. 62
33464427 2021
18
Wax composition and concentration in jujube (Ziziphus jujuba Mill.) cultivars with differential resistance to fruit cracking. 62
33070052 2020
19
Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. 62
33010201 2020
20
The Geomagnetic Field (GMF) Modulates Nutrient Status and Lipid Metabolism during Arabidopsis thaliana Plant Development. 62
33302398 2020
21
Responses of cuticular waxes of faba bean to light wavelengths and selection of candidate genes for cuticular wax biosynthesis. 62
33124766 2020
22
IP7-SPX Domain Interaction Controls Fungal Virulence by Stabilizing Phosphate Signaling Machinery. 62
33082258 2020
23
Monitoring Glycolysis and Respiration Highlights Metabolic Inflexibility of Cryptococcus neoformans. 62
32839374 2020
24
AKR2A interacts with KCS1 to improve VLCFAs contents and chilling tolerance of Arabidopsis thaliana. 62
32433816 2020
25
Genome wide analysis and functional identification of MdKCS genes in apple. 62
32251955 2020
26
AKR2A participates in the regulation of cotton fibre development by modulating biosynthesis of very-long-chain fatty acids. 62
31350932 2020
27
Sphingolipids and Inositol Phosphates Regulate the Tau Protein Phosphorylation Status in Humanized Yeast. 62
33282871 2020
28
Study on the Function of the Inositol Polyphosphate Kinases Kcs1 and Vip1 of Candida albicans in Energy Metabolism. 62
33362729 2020
29
Impaired GCR1 transcription resulted in defective inositol levels, vacuolar structure and autophagy in Saccharomyces cerevisiae. 62
30879088 2019
30
Inositol polyphosphates regulate and predict yeast pseudohyphal growth phenotypes. 62
29939992 2018
31
Role of the inositol pyrophosphate multikinase Kcs1 in Cryptococcus inositol metabolism. 62
29357302 2018
32
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. 62
30687340 2018
33
IP3-4 kinase Arg1 regulates cell wall homeostasis and surface architecture to promote Cryptococcus neoformans infection in a mouse model. 62
28976803 2017
34
[PSI+] prion propagation is controlled by inositol polyphosphates. 62
28923943 2017
35
Very-long-chain fatty acids restrict regeneration capacity by confining pericycle competence for callus formation in Arabidopsis. 62
27092001 2016
36
Identification of a major IP5 kinase in Cryptococcus neoformans confirms that PP-IP5/IP7, not IP6, is essential for virulence. 62
27033523 2016
37
Inositol pyrophosphates modulate cell cycle independently of alteration in telomere length. 62
26446451 2016
38
Fungal Inositol Pyrophosphate IP7 Is Crucial for Metabolic Adaptation to the Host Environment and Pathogenicity. 62
26037119 2015
39
VIH2 Regulates the Synthesis of Inositol Pyrophosphate InsP8 and Jasmonate-Dependent Defenses in Arabidopsis. 62
25901085 2015
40
Inositol pyrophosphates regulate RNA polymerase I-mediated rRNA transcription in Saccharomyces cerevisiae. 62
25423617 2015
41
Kenny-Caffey syndrome type 1. 62
24982829 2014
42
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. 62
23996431 2014
43
Regulation of inositol metabolism is fine-tuned by inositol pyrophosphates in Saccharomyces cerevisiae. 62
23824185 2013
44
Inositol pyrophosphates modulate S phase progression after pheromone-induced arrest in Saccharomyces cerevisiae. 62
23179856 2013
45
KCS1 deletion in Saccharomyces cerevisiae leads to a defect in translocation of autophagic proteins and reduces autophagosome formation. 62
22889849 2012
46
Kenny-Caffey syndrome type 1 in an Egyptian girl. 62
23087875 2012
47
Inhibition of saturated very-long-chain fatty acid biosynthesis by mefluidide and perfluidone, selective inhibitors of 3-ketoacyl-CoA synthases. 62
22284369 2012
48
rDNA ITS sequences among morphotypes of Keratell cochlearis, Keratell quadrata and Brachionus forficula (Rotifera). 62
22576835 2012
49
Transcriptional control of genes involved in yeast phospholipid biosynthesis. 62
21538248 2011
50
Overexpression of the Brassica napus BnLAS gene in Arabidopsis affects plant development and increases drought tolerance. 62
20976458 2011

Variations for Kenny-Caffey Syndrome, Type 1

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBCE NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) DEL Pathogenic
5290 rs767004810 GRCh37: 1:235564868-235564879
GRCh38: 1:235401553-235401564
2 TBCE NM_003193.5(TBCE):c.100+1G>A SNV Likely Pathogenic
631595 rs200356271 GRCh37: 1:235543465-235543465
GRCh38: 1:235380150-235380150
3 TBCE NM_003193.5(TBCE):c.143_144del (p.Lys48fs) DEL Likely Pathogenic
225483 rs758937799 GRCh37: 1:235564860-235564861
GRCh38: 1:235401545-235401546
4 TBCE NM_003193.5(TBCE):c.355_356del (p.Ile119fs) DEL Likely Pathogenic
804381 rs1572391840 GRCh37: 1:235577916-235577917
GRCh38: 1:235414601-235414602

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

Biological processes related to Kenny-Caffey Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral entry into host cell GO:0046718 9.46 XPR1 SLC20A2
2 phosphate ion transmembrane transport GO:0035435 9.26 XPR1 SLC20A2
3 phosphate ion transport GO:0006817 8.8 XPR1 SLC20A2

Molecular functions related to Kenny-Caffey Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 8.92 XPR1 SLC20A2

Sources for Kenny-Caffey Syndrome, Type 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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