MCID: KNN009
MIFTS: 29

Kenny-Caffey Syndrome, Type 1

Categories: Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal 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 40 73
Kenny-Caffey Syndrome Type 1 53 29 6
Kcs1 57 53 75
Kenny-Caffey Syndrome, Autosomal Recessive 57 53
Kcs 57 75
Autosomal Recessive Kenny-Caffey Syndrome 59
Kenny-Caffey Syndrome Autosomal Recessive 75
Kenny-Caffey Syndrome 1 75
Kenny-Caffey Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive kenny-caffey syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to hypoparathyroidism-retardation-dysmorphism syndrome


HPO:

32
kenny-caffey syndrome, type 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kenny-Caffey Syndrome, Type 1

UniProtKB/Swiss-Prot : 75 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.

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 hypertelorism and delayed skeletal maturation

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:

# Related Disease Score Top Affiliating Genes
1 keratoconjunctivitis sicca 11.7
2 keratoconus 11.6
3 kenny-caffey syndrome, type 2 11.0
4 kenny-caffey syndrome 10.4
5 acrocephalopolysyndactyly type iii 10.2
6 sakati syndrome 10.2

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
3 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
4 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
5 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
6 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
7 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
8 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
9 thin ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000883
10 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
11 hypocalcemia 59 32 Very frequent (99-80%) HP:0002901
12 decreased skull ossification 59 32 frequent (33%) Frequent (79-30%) HP:0004331
13 cortical thickening of long bone diaphyses 59 32 frequent (33%) Frequent (79-30%) HP:0005791
14 delayed cranial suture closure 59 32 frequent (33%) Frequent (79-30%) HP:0000270
15 thin clavicles 59 32 frequent (33%) Frequent (79-30%) HP:0006645
16 congenital hypoparathyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0008198
17 hypocalcemic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002199
18 thin long bone diaphyses 59 32 frequent (33%) Frequent (79-30%) HP:0006470
19 hypocalcemic tetany 59 32 frequent (33%) Frequent (79-30%) HP:0003472
20 stenosis of the medullary cavity of the long bones 59 32 frequent (33%) Frequent (79-30%) HP:0100254
21 calvarial osteosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0005450
22 seizures 32 HP:0001250
23 anemia 32 HP:0001903
24 short palm 32 HP:0004279
25 growth delay 59 Frequent (79-30%)
26 tetany 32 HP:0001281
27 recurrent bacterial infections 32 HP:0002718
28 slender long bone 32 HP:0003100
29 proportionate short stature 32 HP:0003508
30 delayed closure of the anterior fontanelle 32 HP:0001476
31 hypomagnesemia 32 HP:0002917
32 long clavicles 32 HP:0000890
33 birth length less than 3rd percentile 32 HP:0003561

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:

41
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 rs767004810 GRCh37 Chromosome 1, 235564872: 235564883
2 TBCE NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) deletion 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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