3KS
MCID: KHN002
MIFTS: 19

Khan-Khan-Katsanis Syndrome (3KS)

Categories: Genetic diseases

Aliases & Classifications for Khan-Khan-Katsanis Syndrome

MalaCards integrated aliases for Khan-Khan-Katsanis Syndrome:

Name: Khan-Khan-Katsanis Syndrome 57 6
3k Syndrome 57
3ks 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618460

Summaries for Khan-Khan-Katsanis Syndrome

OMIM : 57 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 heart, kidney and spinal cord.

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
micrognathia

Head And Neck Eyes:
nystagmus
visual impairment
strabismus
glaucoma
buphthalmos
more
Skeletal Spine:
scoliosis

Head And Neck Nose:
short nose

Growth Height:
short stature

Skin Nails Hair Skin:
sacral dimple

Genitourinary Bladder:
vesicoureteral reflux

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

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

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

Muscle Soft Tissue:
hypertonia
hypotonia

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

Genitourinary Kidneys:
hydronephrosis
small kidneys

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:

41
Heart, Kidney, Spinal Cord

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. 8 71
30609410 2019
2
More than blood, a novel gene required for mammalian postimplantation development. 8
14729962 2004

Variations for Khan-Khan-Katsanis Syndrome

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NCAPG2 NM_017760.7(NCAPG2): c.1825A> G (p.Lys609Glu) single nucleotide variant Pathogenic 7:158455050-158455050 7:158662358-158662358
2 NCAPG2 NM_017760.7(NCAPG2): c.2078C> T (p.Thr693Met) single nucleotide variant Pathogenic 7:158449380-158449380 7:158656688-158656688
3 NCAPG2 NM_017760.7(NCAPG2): c.2548A> C (p.Thr850Pro) single nucleotide variant Pathogenic 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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