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3KS
MCID: KHN002
MIFTS: 23

Khan-Khan-Katsanis Syndrome (3KS)

Categories: Bone diseases, Genetic diseases, Nephrological diseases, Neuronal diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Khan-Khan-Katsanis Syndrome

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MalaCards integrated aliases for Khan-Khan-Katsanis Syndrome:

Name: Khan-Khan-Katsanis Syndrome 57 73 29 6
3k Syndrome 57 73
3ks 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Bone diseases Nephrological diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Khan-Khan-Katsanis Syndrome

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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) (Updated 05-Mar-2021)

MalaCards based summary : Khan-Khan-Katsanis Syndrome, is also known as 3k syndrome. An important gene associated with Khan-Khan-Katsanis Syndrome is NCAPG2 (Non-SMC Condensin II Complex Subunit G2). Affiliated tissues include spinal cord and heart, and related phenotypes are failure to thrive and frontal bossing

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.

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Related Diseases for Khan-Khan-Katsanis Syndrome

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Symptoms & Phenotypes for Khan-Khan-Katsanis Syndrome

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Human phenotypes related to Khan-Khan-Katsanis Syndrome:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 frontal bossing 31 HP:0002007
3 scoliosis 31 HP:0002650
4 nystagmus 31 HP:0000639
5 dysphagia 31 HP:0002015
6 global developmental delay 31 HP:0001263
7 short nose 31 HP:0003196
8 microcephaly 31 HP:0000252
9 visual impairment 31 HP:0000505
10 short stature 31 HP:0004322
11 hypertonia 31 HP:0001276
12 flexion contracture 31 HP:0001371
13 strabismus 31 HP:0000486
14 absent speech 31 HP:0001344
15 intrauterine growth retardation 31 HP:0001511
16 micrognathia 31 HP:0000347
17 patent ductus arteriosus 31 HP:0001643
18 vesicoureteral reflux 31 HP:0000076
19 hydronephrosis 31 HP:0000126
20 buphthalmos 31 HP:0000557
21 renal hypoplasia 31 HP:0000089
22 sacral dimple 31 HP:0000960
23 tented upper lip vermilion 31 HP:0010804
24 feeding difficulties 31 HP:0011968
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®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Skeletal Spine:
scoliosis

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

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

Head And Neck Face:
frontal bossing
micrognathia

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

Growth Height:
short stature

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 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Khan-Khan-Katsanis Syndrome

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

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Genetic Tests for Khan-Khan-Katsanis Syndrome

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Genetic tests related to Khan-Khan-Katsanis Syndrome:

# Genetic test Affiliating Genes
1 Khan-Khan-Katsanis Syndrome 29 NCAPG2
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Anatomical Context for Khan-Khan-Katsanis Syndrome

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

40
Spinal Cord, Heart
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Publications for Khan-Khan-Katsanis Syndrome

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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 57
30609410 2019
2
More than blood, a novel gene required for mammalian postimplantation development. 57
14729962 2004
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Variations for Khan-Khan-Katsanis Syndrome

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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

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Expression for Khan-Khan-Katsanis Syndrome

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

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GO Terms for Khan-Khan-Katsanis Syndrome

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Sources for Khan-Khan-Katsanis Syndrome

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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