KCS1
MCID: KNN009
MIFTS: 32

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 58 41 74
Kenny-Caffey Syndrome Type 1 54 30 6
Kcs1 58 54 76
Kenny-Caffey Syndrome, Autosomal Recessive 58 54
Kcs 58 76
Autosomal Recessive Kenny-Caffey Syndrome 60
Kenny-Caffey Syndrome Autosomal Recessive 76
Kenny-Caffey Syndrome 1 76
Kenny-Caffey Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive kenny-caffey syndrome
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to hypoparathyroidism-retardation-dysmorphism syndrome


HPO:

33
kenny-caffey syndrome, type 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kenny-Caffey Syndrome, Type 1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93324Disease definitionA 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 keratoconus and keratoconjunctivitis sicca. 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 : 76 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.

Description from OMIM: 244460

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 all 42)
# Related Disease Score Top Affiliating Genes
1 keratoconus 12.1
2 keratoconjunctivitis sicca 11.9
3 dry eye syndrome 11.4
4 kenny-caffey syndrome, type 2 11.2
5 keratoconus posticus circumscriptus 11.1
6 kenny-caffey syndrome 10.6
7 hypoparathyroidism 10.4
8 acrocephalopolysyndactyly type iii 10.4
9 ischemia 10.3
10 keratoconjunctivitis 10.2
11 pancreatic cancer 10.1
12 acute respiratory distress syndrome 10.1
13 radin blood group antigen 10.0
14 sjogren syndrome 10.0
15 arthritis 10.0
16 colitis 10.0
17 alzheimer disease 9.9
18 arteries, anomalies of 9.9
19 breast cancer 9.9
20 neutrophil migration 9.9
21 disorganization, mouse, homolog of 9.9
22 enterocolitis 9.9
23 myeloma, multiple 9.9
24 myocardial infarction 9.9
25 aspergillosis 9.9
26 autoinflammation with infantile enterocolitis 9.9
27 coronary artery anomaly 9.9
28 bacterial sepsis 9.9
29 invasive aspergillosis 9.9
30 dengue shock syndrome 9.9
31 mucositis 9.9
32 leukodystrophy 9.9
33 sarcoma 9.9
34 chlamydia 9.9
35 gastroparesis 9.9
36 cholera 9.9
37 melanoma 9.9
38 dermatitis 9.9
39 irritant dermatitis 9.9
40 choriocarcinoma 9.9
41 conjunctivitis 9.9
42 appendicitis 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:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypoparathyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0008198
2 hypocalcemic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002199
3 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
4 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
5 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
6 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
7 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
8 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
9 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
10 postnatal growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008897
11 thin ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000883
12 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
13 decreased skull ossification 60 33 frequent (33%) Frequent (79-30%) HP:0004331
14 cortical thickening of long bone diaphyses 60 33 frequent (33%) Frequent (79-30%) HP:0005791
15 delayed cranial suture closure 60 33 frequent (33%) Frequent (79-30%) HP:0000270
16 thin clavicles 60 33 frequent (33%) Frequent (79-30%) HP:0006645
17 thin long bone diaphyses 60 33 frequent (33%) Frequent (79-30%) HP:0006470
18 hypocalcemic tetany 60 33 frequent (33%) Frequent (79-30%) HP:0003472
19 stenosis of the medullary cavity of the long bones 60 33 frequent (33%) Frequent (79-30%) HP:0100254
20 calvarial osteosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0005450
21 hypocalcemia 60 33 Very frequent (99-80%) HP:0002901
22 seizures 33 HP:0001250
23 anemia 33 HP:0001903
24 short palm 33 HP:0004279
25 growth delay 60 Frequent (79-30%)
26 tetany 33 HP:0001281
27 recurrent bacterial infections 33 HP:0002718
28 slender long bone 33 HP:0003100
29 proportionate short stature 33 HP:0003508
30 delayed closure of the anterior fontanelle 33 HP:0001476
31 hypomagnesemia 33 HP:0002917
32 long clavicles 33 HP:0000890
33 birth length less than 3rd percentile 33 HP:0003561

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

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

Laboratory Abnormalities:
hypocalcemia
low to low-normal magnesium

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

Neurologic Central Nervous System:
tetany
hypocalcemic seizure

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 30 TBCE

Anatomical Context for Kenny-Caffey Syndrome, Type 1

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

42
Bone, Eye

Publications for Kenny-Caffey Syndrome, Type 1

Articles related to Kenny-Caffey Syndrome, Type 1:

# Title Authors Year
1
Kenny-Caffey syndrome type 1. ( 24982829 )
2014
2
Kenny-Caffey syndrome type 1 in an Egyptian girl. ( 23087875 )
2012
3
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. ( 19554981 )
2009

Variations for Kenny-Caffey Syndrome, Type 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBCE NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) deletion Pathogenic/Likely pathogenic rs767004810 GRCh37 Chromosome 1, 235564872: 235564883
2 TBCE NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) deletion Pathogenic/Likely pathogenic rs767004810 GRCh38 Chromosome 1, 235401557: 235401568
3 TBCE NM_001079515.2(TBCE): c.143_144delAG (p.Lys48Thrfs) deletion Likely pathogenic rs758937799 GRCh38 Chromosome 1, 235401545: 235401546
4 TBCE NM_001079515.2(TBCE): c.143_144delAG (p.Lys48Thrfs) deletion Likely pathogenic rs758937799 GRCh37 Chromosome 1, 235564860: 235564861

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
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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