3KS
MCID: KHN002
MIFTS: 26

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 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 frontal bossing and clinodactyly

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 10.1
6 allergic hypersensitivity disease 10.1
7 pneumothorax 10.1
8 hepatitis e 10.1
9 hypoxia 10.1

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing
micrognathia

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

Head And Neck Eyes:
nystagmus
visual impairment
strabismus
glaucoma
buphthalmos
more
Head And Neck Nose:
short nose

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
sacral dimple

Genitourinary Kidneys:
hydronephrosis
small kidneys

Skeletal Feet:
postaxial polydactyly
absent postaxial digits

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

Skeletal Limbs:
contractures

Head And Neck Ears:
hearing impairment, sensorineural

Skeletal Hands:
clinodactyly

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
global developmental delay
absent speech
colpocephaly
delayed walking
hypoplasia of the cerebellar vermis
more
Growth Height:
short stature

Muscle Soft Tissue:
hypertonia
hypotonia

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

Genitourinary Bladder:
vesicoureteral reflux

Head And Neck Mouth:
triangular mouth
tented mouth

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

Anatomical Context for Khan-Khan-Katsanis Syndrome

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

40
Spinal Cord, Heart, Kidney, Bone

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. 56 6
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

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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