KCS2
MCID: KNN007
MIFTS: 39

Kenny-Caffey Syndrome, Type 2 (KCS2)

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

Aliases & Classifications for Kenny-Caffey Syndrome, Type 2

MalaCards integrated aliases for Kenny-Caffey Syndrome, Type 2:

Name: Kenny-Caffey Syndrome, Type 2 57
Kenny-Caffey Syndrome Type 2 12 20 29 6 15
Kenny Syndrome 57 72 39
Kcs2 57 20 72
Dwarfism with Cortical Thickening of Tubular Bones and Transient Hypocalcemia 72
Dwarfism, Cortical Thickening of Tubular Bones, and Transient Hypocalcemia 57
Dwarfism, Cortical Thickening of Tubular Bones and Transient Hypocalcemia 20
Kenny-Caffey Syndrome, Autosomal Dominant 20
Autosomal Dominant Kenny-Caffey Syndrome 58
Kenny-Caffey Syndrome 2 72
Kenny-Caffey Syndrome 70

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

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


HPO:

31
kenny-caffey syndrome, type 2:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Kenny-Caffey Syndrome, Type 2

OMIM® : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014). See KCS1 (244460) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome. (127000) (Updated 05-Apr-2021)

MalaCards based summary : Kenny-Caffey Syndrome, Type 2, also known as kenny-caffey syndrome type 2, is related to kenny-caffey syndrome, type 1 and hypoparathyroidism. An important gene associated with Kenny-Caffey Syndrome, Type 2 is FAM111A (FAM111 Trypsin Like Peptidase A). Affiliated tissues include eye, bone and cortex, and related phenotypes are short stature and delayed cranial suture closure

Disease Ontology : 12 A Kenny-Caffey syndrome that has material basis in heterozygous mutation in the FAM111A gene on chromosome 11q12.

GARD : 20 Kenny-Caffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium ( hypocalcemia ). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. Treatment often includes calcium and vitamin D supplements and addressing any medical issues as they occur.

UniProtKB/Swiss-Prot : 72 Kenny-Caffey syndrome 2: 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.

Related Diseases for Kenny-Caffey Syndrome, Type 2

Graphical network of the top 20 diseases related to Kenny-Caffey Syndrome, Type 2:



Diseases related to Kenny-Caffey Syndrome, Type 2

Symptoms & Phenotypes for Kenny-Caffey Syndrome, Type 2

Human phenotypes related to Kenny-Caffey Syndrome, Type 2:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
3 cortical thickening of long bone diaphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0005791
4 stenosis of the medullary cavity of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0100254
5 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
8 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
9 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
10 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
11 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
12 retinal calcification 58 31 frequent (33%) Frequent (79-30%) HP:0007862
13 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
14 decreased skull ossification 58 31 frequent (33%) Frequent (79-30%) HP:0004331
15 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
16 hyperphosphatemia 58 31 frequent (33%) Frequent (79-30%) HP:0002905
17 congenital hypoparathyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008198
18 papilledema 58 31 frequent (33%) Frequent (79-30%) HP:0001085
19 hypocalcemic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002199
20 hypocalcemic tetany 58 31 frequent (33%) Frequent (79-30%) HP:0003472
21 basal ganglia calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002135
22 bilateral microphthalmos 58 31 frequent (33%) Frequent (79-30%) HP:0007633
23 calvarial osteosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0005450
24 thin long bone diaphyses 58 31 frequent (33%) Frequent (79-30%) HP:0006470
25 postnatal macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005490
26 abnormal circulating follicle-stimulating hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0030346
27 high pitched voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001620
28 persistence of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006335
29 developmental cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000519
30 macrocephaly 31 HP:0000256
31 growth delay 58 Frequent (79-30%)
32 microphthalmia 31 HP:0000568
33 hypoparathyroidism 31 HP:0000829
34 hypocalcemia 31 HP:0002901
35 increased bone mineral density 31 HP:0011001
36 severe short stature 31 HP:0003510
37 small for gestational age 31 HP:0001518
38 delayed closure of the anterior fontanelle 31 HP:0001476
39 thickened cortex of long bones 31 HP:0000935
40 transient hypophosphatemia 31 HP:0008285
41 abnormality of the medullary cavity of the long bones 31 HP:0100253
42 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

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

Neurologic Central Nervous System:
seizures
basal ganglia calcification
normal intelligence
tetany, hypocalcemic, episodic

Head And Neck Eyes:
microphthalmia
papilledema
hyperopia
corneal and retinal calcification
congenital cataracts (rare)

Growth Height:
short stature, severe

Head And Neck Teeth:
defective dentition (in some patients)

Voice:
high-pitched voice (in some patients)

Hematology:
anemia (in some patients)

Skeletal Skull:
macrocephaly
delayed closure of anterior fontanel

Head And Neck Face:
prominent forehead

Skeletal:
thickened cortex of long bones
osteosclerosis
dense tubular bones and narrow marrow cavities

Growth Weight:
low birth weight

Genitourinary External Genitalia Male:
microorchidism

Endocrine Features:
low parathyroid hormone
low calcitonin
small to absent parathyroid glands

Laboratory Abnormalities:
hypocalcemia, transient
hyperphosphatemia, transient

Clinical features from OMIM®:

127000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Kenny-Caffey Syndrome, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 MYRF PRSS56 TMEM98

Drugs & Therapeutics for Kenny-Caffey Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Kenny-Caffey Syndrome, Type 2

Genetic Tests for Kenny-Caffey Syndrome, Type 2

Genetic tests related to Kenny-Caffey Syndrome, Type 2:

# Genetic test Affiliating Genes
1 Kenny-Caffey Syndrome Type 2 29 FAM111A

Anatomical Context for Kenny-Caffey Syndrome, Type 2

MalaCards organs/tissues related to Kenny-Caffey Syndrome, Type 2:

40
Eye, Bone, Cortex, Spleen

Publications for Kenny-Caffey Syndrome, Type 2

Articles related to Kenny-Caffey Syndrome, Type 2:

(show all 21)
# Title Authors PMID Year
1
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. 57 6 61
23996431 2014
2
FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 57 6
23684011 2013
3
Kenny-Caffey syndrome and microorchidism. 57
9805124 1998
4
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. 57
1308349 1992
5
Kenny syndrome: description of additional abnormalities and molecular studies. 57
2843457 1988
6
Congenital medullary tubular stenosis. A case of Caffey-Kenny syndrome. 57
3381667 1988
7
Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. 57
3746537 1986
8
Unusual cause of short stature. 57
3893111 1985
9
The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. 57
6342392 1983
10
The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction. 57
7215388 1981
11
Ocular findings in Kenny's syndrome. 57
444124 1979
12
Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany. 57
6023894 1967
13
Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. 57
5322798 1966
14
Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull. 61
33750016 2021
15
Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature. 61
33263187 2021
16
Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2. 61
32765931 2020
17
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. 61
32996714 2020
18
Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis. 61
32310878 2020
19
Kenny-Caffey syndrome type 2. 61
32428224 2020
20
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA. 61
31433868 2019
21
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. 61
28138333 2017

Variations for Kenny-Caffey Syndrome, Type 2

ClinVar genetic disease variations for Kenny-Caffey Syndrome, Type 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM111A NM_001312909.2(FAM111A):c.1531T>C (p.Tyr511His) SNV Conflicting interpretations of pathogenicity 56812 rs587777012 GRCh37: 11:58920672-58920672
GRCh38: 11:59153199-59153199
2 FAM111A NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) SNV Conflicting interpretations of pathogenicity 56810 rs587777011 GRCh37: 11:58920847-58920847
GRCh38: 11:59153374-59153374
3 FAM111A NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) SNV not provided 56810 rs587777011 GRCh37: 11:58920847-58920847
GRCh38: 11:59153374-59153374

UniProtKB/Swiss-Prot genetic disease variations for Kenny-Caffey Syndrome, Type 2:

72
# Symbol AA change Variation ID SNP ID
1 FAM111A p.Tyr511His VAR_069515 rs587777012
2 FAM111A p.Arg569His VAR_069518 rs587777011

Expression for Kenny-Caffey Syndrome, Type 2

Search GEO for disease gene expression data for Kenny-Caffey Syndrome, Type 2.

Pathways for Kenny-Caffey Syndrome, Type 2

GO Terms for Kenny-Caffey Syndrome, Type 2

Biological processes related to Kenny-Caffey Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 FAM111B FAM111A
2 protein autoprocessing GO:0016540 8.96 MYRF FAM111A
3 proteolysis GO:0006508 8.92 PRSS56 MYRF FAM111B FAM111A

Molecular functions related to Kenny-Caffey Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.26 PRSS56 MYRF FAM111B FAM111A
2 peptidase activity GO:0008233 8.92 PRSS56 MYRF FAM111B FAM111A

Sources for Kenny-Caffey Syndrome, Type 2

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
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