KCS2
MCID: KNN007
MIFTS: 29

Kenny-Caffey Syndrome, Type 2 (KCS2)

Categories: Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal 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 53 29 6
Kenny Syndrome 57 75 40
Kcs2 57 53 75
Dwarfism with Cortical Thickening of Tubular Bones and Transient Hypocalcemia 75
Dwarfism, Cortical Thickening of Tubular Bones, and Transient Hypocalcemia 57
Dwarfism, Cortical Thickening of Tubular Bones and Transient Hypocalcemia 53
Kenny-Caffey Syndrome, Autosomal Dominant 53
Autosomal Dominant Kenny-Caffey Syndrome 59
Kenny-Caffey Syndrome 2 75
Kenny-Caffey Syndrome 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
kenny-caffey syndrome, type 2:
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Kenny-Caffey Syndrome, Type 2, also known as kenny-caffey syndrome type 2, is related to kenny-caffey syndrome and hypoparathyroidism. An important gene associated with Kenny-Caffey Syndrome, Type 2 is FAM111A (Family With Sequence Similarity 111 Member A). Affiliated tissues include bone, eye and cortex, and related phenotypes are hypertelorism and delayed skeletal maturation

NIH Rare Diseases : 53 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 : 75 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

Diseases in the Kenny-Caffey Syndrome family:

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

Diseases related to Kenny-Caffey Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kenny-caffey syndrome 10.4
2 hypoparathyroidism 10.2

Symptoms & Phenotypes for Kenny-Caffey Syndrome, Type 2

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 42)
# 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 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
6 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
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 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
10 papilledema 59 32 frequent (33%) Frequent (79-30%) HP:0001085
11 high pitched voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001620
12 decreased skull ossification 59 32 frequent (33%) Frequent (79-30%) HP:0004331
13 cortical thickening of long bone diaphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005791
14 delayed cranial suture closure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000270
15 persistence of primary teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006335
16 congenital cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000519
17 hypermetropia 59 32 frequent (33%) Frequent (79-30%) HP:0000540
18 hyperphosphatemia 59 32 frequent (33%) Frequent (79-30%) HP:0002905
19 congenital hypoparathyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0008198
20 bilateral microphthalmos 59 32 frequent (33%) Frequent (79-30%) HP:0007633
21 hypocalcemic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002199
22 thin long bone diaphyses 59 32 frequent (33%) Frequent (79-30%) HP:0006470
23 hypocalcemic tetany 59 32 frequent (33%) Frequent (79-30%) HP:0003472
24 stenosis of the medullary cavity of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0100254
25 basal ganglia calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002135
26 calvarial osteosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0005450
27 postnatal macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0005490
28 retinal calcification 59 32 frequent (33%) Frequent (79-30%) HP:0007862
29 abnormal circulating follicle-stimulating hormone level 59 32 frequent (33%) Frequent (79-30%) HP:0030346
30 macrocephaly 32 HP:0000256
31 seizures 32 HP:0001250
32 growth delay 59 Frequent (79-30%)
33 hypoparathyroidism 32 HP:0000829
34 microphthalmia 32 HP:0000568
35 hypocalcemia 32 HP:0002901
36 severe short stature 32 HP:0003510
37 increased bone mineral density 32 HP:0011001
38 small for gestational age 32 HP:0001518
39 delayed closure of the anterior fontanelle 32 HP:0001476
40 thickened cortex of long bones 32 HP:0000935
41 transient hypophosphatemia 32 HP:0008285
42 abnormality of the medullary cavity of the long bones 32 HP:0100253

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:

41
Bone, Eye, Cortex

Publications for Kenny-Caffey Syndrome, Type 2

Articles related to Kenny-Caffey Syndrome, Type 2:

# Title Authors Year
1
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. ( 28138333 )
2017
2
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. ( 23996431 )
2013

Variations for Kenny-Caffey Syndrome, Type 2

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

75
# Symbol AA change Variation ID SNP ID
1 FAM111A p.Tyr511His VAR_069515 rs587777012
2 FAM111A p.Arg569His VAR_069518 rs587777011

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM111A NM_001142519.2(FAM111A): c.1706G> A (p.Arg569His) single nucleotide variant Pathogenic rs587777011 GRCh37 Chromosome 11, 58920847: 58920847
2 FAM111A NM_001142519.2(FAM111A): c.1706G> A (p.Arg569His) single nucleotide variant Pathogenic rs587777011 GRCh38 Chromosome 11, 59153374: 59153374

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

Sources for Kenny-Caffey Syndrome, Type 2

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
Content
Loading form....