3KS
MCID: KHN002
MIFTS: 27

Khan-Khan-Katsanis Syndrome (3KS)

Categories: Bone diseases, Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Khan-Khan-Katsanis Syndrome

MalaCards integrated aliases for Khan-Khan-Katsanis Syndrome:

Name: Khan-Khan-Katsanis Syndrome 56 73 29 6
3k Syndrome 56 73
3ks 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in utero
two unrelated patients have been reported (last curated june 2019)


HPO:

31
khan-khan-katsanis syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Khan-Khan-Katsanis Syndrome

OMIM : 56 Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019). (618460)

MalaCards based summary : Khan-Khan-Katsanis Syndrome, also known as 3k syndrome, is related to muscular dystrophy, congenital merosin-deficient, 1a and muscular dystrophy, congenital, lmna-related. An important gene associated with Khan-Khan-Katsanis Syndrome is NCAPG2 (Non-SMC Condensin II Complex Subunit G2). Affiliated tissues include spinal cord, heart and kidney, and related phenotypes are global developmental delay and scoliosis

UniProtKB/Swiss-Prot : 73 Khan-Khan-Katsanis syndrome: An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay.

Related Diseases for Khan-Khan-Katsanis Syndrome

Diseases related to Khan-Khan-Katsanis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 10.3
2 muscular dystrophy, congenital, lmna-related 10.3
3 muscular dystrophy 10.3
4 lama2-related muscular dystrophy 10.3
5 hepatitis c virus 10.2
6 allergic hypersensitivity disease 10.2
7 pneumothorax 10.2
8 hepatitis e 10.2
9 hypoxia 10.2

Graphical network of the top 20 diseases related to Khan-Khan-Katsanis Syndrome:



Diseases related to Khan-Khan-Katsanis Syndrome

Symptoms & Phenotypes for Khan-Khan-Katsanis Syndrome

Human phenotypes related to Khan-Khan-Katsanis Syndrome:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 scoliosis 31 HP:0002650
3 short nose 31 HP:0003196
4 microcephaly 31 HP:0000252
5 visual impairment 31 HP:0000505
6 short stature 31 HP:0004322
7 hypertonia 31 HP:0001276
8 flexion contracture 31 HP:0001371
9 failure to thrive 31 HP:0001508
10 dysphagia 31 HP:0002015
11 feeding difficulties 31 HP:0011968
12 nystagmus 31 HP:0000639
13 frontal bossing 31 HP:0002007
14 strabismus 31 HP:0000486
15 absent speech 31 HP:0001344
16 intrauterine growth retardation 31 HP:0001511
17 micrognathia 31 HP:0000347
18 patent ductus arteriosus 31 HP:0001643
19 vesicoureteral reflux 31 HP:0000076
20 hydronephrosis 31 HP:0000126
21 buphthalmos 31 HP:0000557
22 renal hypoplasia 31 HP:0000089
23 sacral dimple 31 HP:0000960
24 tented upper lip vermilion 31 HP:0010804
25 colpocephaly 31 HP:0030048
26 cerebellar vermis hypoplasia 31 HP:0001320
27 tricuspid regurgitation 31 HP:0005180
28 pigmentary retinopathy 31 HP:0000580
29 generalized hypotonia 31 HP:0001290
30 peters anomaly 31 HP:0000659
31 corneal scarring 31 HP:0000559
32 clinodactyly 31 HP:0030084
33 triangular mouth 31 HP:0000207
34 patent foramen ovale 31 HP:0001655
35 postaxial polydactyly 31 HP:0100259
36 delayed ability to walk 31 HP:0031936
37 epiblepharon 31 HP:0011225

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
absent speech
colpocephaly
delayed walking
hypoplasia of the cerebellar vermis
more
Head And Neck Nose:
short nose

Head And Neck Eyes:
visual impairment
nystagmus
strabismus
glaucoma
buphthalmos
more
Muscle Soft Tissue:
hypertonia
hypotonia

Head And Neck Face:
frontal bossing
micrognathia

Genitourinary Bladder:
vesicoureteral reflux

Skin Nails Hair Skin:
sacral dimple

Head And Neck Mouth:
triangular mouth
tented mouth

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties
feeding tube
abnormally placed anus

Skeletal Limbs:
contractures

Head And Neck Ears:
hearing impairment, sensorineural

Skeletal Spine:
scoliosis

Head And Neck Head:
microcephaly

Growth Height:
short stature

Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Cardiovascular Heart:
patent ductus arteriosus
tricuspid regurgitation
patent foramen ovale
congenital heart defects

Genitourinary Kidneys:
hydronephrosis
small kidneys

Skeletal Hands:
clinodactyly

Skeletal Feet:
postaxial polydactyly
absent postaxial digits

Prenatal Manifestations Placenta And Umbilical Cord:
two-vessel cord

Genitourinary Ureters:
duplicated ureter

Genitourinary Internal Genitalia Female:
underdeveloped clitoris

Clinical features from OMIM:

618460

Drugs & Therapeutics for Khan-Khan-Katsanis Syndrome

Search Clinical Trials , NIH Clinical Center for Khan-Khan-Katsanis Syndrome

Genetic Tests for Khan-Khan-Katsanis Syndrome

Genetic tests related to Khan-Khan-Katsanis Syndrome:

# Genetic test Affiliating Genes
1 Khan-Khan-Katsanis Syndrome 29

Anatomical Context for Khan-Khan-Katsanis Syndrome

MalaCards organs/tissues related to Khan-Khan-Katsanis Syndrome:

40
Spinal Cord, Heart, Kidney

Publications for Khan-Khan-Katsanis Syndrome

Articles related to Khan-Khan-Katsanis Syndrome:

# Title Authors PMID Year
1
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. 6 56
30609410 2019
2
More than blood, a novel gene required for mammalian postimplantation development. 56
14729962 2004

Variations for Khan-Khan-Katsanis Syndrome

ClinVar genetic disease variations for Khan-Khan-Katsanis Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NCAPG2 NM_017760.7(NCAPG2):c.1825A>G (p.Lys609Glu)SNV Pathogenic 633698 rs1299537743 7:158455050-158455050 7:158662358-158662358
2 NCAPG2 NM_017760.7(NCAPG2):c.2078C>T (p.Thr693Met)SNV Pathogenic 633699 rs772209292 7:158449380-158449380 7:158656688-158656688
3 NCAPG2 NM_017760.7(NCAPG2):c.2548A>C (p.Thr850Pro)SNV Pathogenic 633700 rs1563515856 7:158447908-158447908 7:158655216-158655216

UniProtKB/Swiss-Prot genetic disease variations for Khan-Khan-Katsanis Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 NCAPG2 p.Lys609Glu VAR_083028 rs129953774
2 NCAPG2 p.Thr693Met VAR_083029 rs772209292
3 NCAPG2 p.Thr850Pro VAR_083030 rs156351585

Expression for Khan-Khan-Katsanis Syndrome

Search GEO for disease gene expression data for Khan-Khan-Katsanis Syndrome.

Pathways for Khan-Khan-Katsanis Syndrome

GO Terms for Khan-Khan-Katsanis Syndrome

Sources for Khan-Khan-Katsanis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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