SKS
MCID: SMT020
MIFTS: 39

Smith-Kingsmore Syndrome (SKS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Smith-Kingsmore Syndrome

MalaCards integrated aliases for Smith-Kingsmore Syndrome:

Name: Smith-Kingsmore Syndrome 57 19 42 58 73 38
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome 57 42 58 73 28 5 16
Minds Syndrome 57 42 58 73
Sks 57 42 73
Macrocephaly, Seizures, Intellectual Disability, Umbilical Hernia, and Facial Dysmorphism 42
Macrocephaly, Seizures, Mental Retardation, Umbilical Hernia, and Facial Dysmorphism 57

Characteristics:


Inheritance:

Smith-Kingsmore Syndrome: Autosomal dominant 57
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome: Autosomal dominant 58

Prevelance:

Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome: Infancy,Neonatal 58

Age Of Death:

Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome: early childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable features present


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Smith-Kingsmore Syndrome

MedlinePlus Genetics: 42 Smith-Kingsmore syndrome is a neurological disorder characterized by a head that is larger than normal (macrocephaly), intellectual disability, and seizures. In some people with this condition, the ability to speak is delayed or never develops. Some children with Smith-Kingsmore syndrome have features of a behavioral condition called attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder, which is characterized by impaired communication and social interaction. Structural brain abnormalities may also be present in affected individuals. For example, one or both sides of the brain may be enlarged (hemimegalencephaly or megalencephaly) or have too many ridges on the surface (polymicrogyria), or the fluid-filled spaces near the center of the brain (ventricles) may be bigger than normal (ventriculomegaly).Many people with Smith-Kingsmore syndrome have unusual facial features, such as a triangular face with a pointed chin, a protruding forehead (frontal bossing), widely spaced eyes (hypertelorism) with outside corners that point downward (downslanting palpebral fissures), a flat nasal bridge, or a long space between the nose and upper lip (long philtrum). However, not everyone with Smith-Kingsmore syndrome has distinctive facial features.

MalaCards based summary: Smith-Kingsmore Syndrome, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, is related to alacrima, achalasia, and mental retardation syndrome and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Smith-Kingsmore Syndrome is MTOR (Mechanistic Target Of Rapamycin Kinase). Affiliated tissues include brain, pons and bone marrow, and related phenotypes are macrocephaly and intellectual disability

Orphanet: 58 A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.

OMIM®: 57 Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015). (616638) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features.

Related Diseases for Smith-Kingsmore Syndrome

Graphical network of the top 20 diseases related to Smith-Kingsmore Syndrome:



Diseases related to Smith-Kingsmore Syndrome

Symptoms & Phenotypes for Smith-Kingsmore Syndrome

Human phenotypes related to Smith-Kingsmore Syndrome:

58 30 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
3 megalencephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001355
4 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
5 neurological speech impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002167
6 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
7 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
8 specific learning disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001328
9 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
10 large for gestational age 58 30 Frequent (33%) Frequent (79-30%)
HP:0001520
11 generalized-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002197
12 curly hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002212
13 focal-onset seizure 30 Frequent (33%) HP:0007359
14 gait disturbance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001288
15 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
16 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001763
17 prominent forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011220
18 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
19 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
20 open mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000194
21 long philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000343
22 hypopigmented skin patches 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001053
23 asthma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002099
24 wide mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000154
25 hemangioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001028
26 polymicrogyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002126
27 diastasis recti 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001540
28 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
29 cafe-au-lait spot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000957
30 thoracic hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005257
31 hyperactivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000752
32 protuberant abdomen 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001538
33 abnormal corpus callosum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001273
34 capillary malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025104
35 lactose intolerance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004789
36 hypotonia 30 Occasional (7.5%) HP:0001252
37 depressed nasal bridge 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005280
38 downslanted palpebral fissures 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000494
39 hypospadias 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000047
40 neonatal hypoglycemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001998
41 decreased circulating iga level 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002720
42 short chin 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000331
43 intestinal polyp 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005266
44 allergy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012393
45 seizures 58 Frequent (79-30%)
46 muscular hypotonia 58 Occasional (29-5%)
47 umbilical hernia 30 HP:0001537
48 short nose 30 HP:0003196
49 smooth philtrum 30 HP:0000319
50 hypoglycemia 30 HP:0001943

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Head:
macrocephaly
frontal bossing
large anterior fontanel
tall forehead

Head And Neck Nose:
depressed nasal bridge
short nose

Abdomen External Features:
umbilical hernia
diastasis recti

Laboratory Abnormalities:
hypoglycemia

Hematology:
thrombocytopenia

Skeletal Feet:
deep plantar creases
short distal phalanges

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Hands:
short distal phalanges
deep palmar creases
short proximal phalanges

Abdomen Gastrointestinal:
poor feeding

Genitourinary Kidneys:
renal asymmetry

Growth Weight:
birth length >3 sd

Skin Nails Hair Nails:
small toenails

Neurologic Central Nervous System:
intellectual disability
perisylvian polymicrogyria
seizures (in some patients)
mild prominence of the ventricular system
hypogenesis of the body and the splenium of the corpus callosum
more
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures

Head And Neck Mouth:
smooth philtrum
long philtrum
thin upper lip
macrostomia
open mouth posture

Genitourinary External Genitalia Male:
cryptorchidism

Growth Other:
large for gestational age

Skin Nails Hair Hair:
curly hair
wavy hair

Head And Neck Face:
midface hypoplasia
small chin

Skeletal Limbs:
rhizomelic limb shortening

Chest External Features:
small thorax

Skin Nails Hair Skin:
cafe-au-lait spots

Immunology:
iga deficiency

Cardiovascular Heart:
aortic sinus to right atrial fistula

Clinical features from OMIM®:

616638 (Updated 24-Oct-2022)

Drugs & Therapeutics for Smith-Kingsmore Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495

Search NIH Clinical Center for Smith-Kingsmore Syndrome

Genetic Tests for Smith-Kingsmore Syndrome

Genetic tests related to Smith-Kingsmore Syndrome:

# Genetic test Affiliating Genes
1 Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome 28 MTOR

Anatomical Context for Smith-Kingsmore Syndrome

Organs/tissues related to Smith-Kingsmore Syndrome:

MalaCards : Brain, Pons, Bone Marrow, Skin, Bone
ODiseA: Blood And Bone Marrow

Publications for Smith-Kingsmore Syndrome

Articles related to Smith-Kingsmore Syndrome:

(show all 23)
# Title Authors PMID Year
1
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. 62 57 5
27753196 2017
2
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 57 5
27830187 2016
3
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 57 5
26542245 2015
4
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. 57 5
25851998 2015
5
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. 62 5
28892148 2018
6
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. 5
33077954 2020
7
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. 5
31441589 2019
8
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. 5
31444548 2019
9
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. 5
29281825 2017
10
Mechanistically distinct cancer-associated mTOR activation clusters predict sensitivity to rapamycin. 5
27482884 2016
11
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 5
27159400 2016
12
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 5
25799227 2015
13
A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity. 5
24631838 2014
14
Mutations in critical domains confer the human mTOR gene strong tumorigenicity. 5
23322780 2013
15
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 57
22729223 2012
16
Activating mutations of TOR (target of rapamycin). 5
21210909 2011
17
[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review]. 62
36038305 2022
18
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. 62
34032352 2021
19
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. 62
34197453 2021
20
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue. 62
34359351 2021
21
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. 62
33506498 2021
22
Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome. 62
32494756 2020
23
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. 62
31053780 2019

Variations for Smith-Kingsmore Syndrome

ClinVar genetic disease variations for Smith-Kingsmore Syndrome:

5 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTOR-AS1, MTOR NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile) SNV Pathogenic
224088 rs869312671 GRCh37: 1:11204792-11204792
GRCh38: 1:11144735-11144735
2 MTOR NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) SNV Pathogenic
190121 rs786205165 GRCh37: 1:11217230-11217230
GRCh38: 1:11157173-11157173
3 MTOR NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) SNV Pathogenic
217823 rs863225264 GRCh37: 1:11190804-11190804
GRCh38: 1:11130747-11130747
4 MTOR NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) SNV Pathogenic
224083 rs869312666 GRCh37: 1:11189846-11189846
GRCh38: 1:11129789-11129789
5 MTOR NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile) SNV Pathogenic
242349 rs878855328 GRCh37: 1:11177096-11177096
GRCh38: 1:11117039-11117039
6 MTOR NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr) SNV Pathogenic
948857 rs1644090362 GRCh37: 1:11210198-11210198
GRCh38: 1:11150141-11150141
7 MTOR NM_004958.4(MTOR):c.257del (p.Gly86fs) DEL Pathogenic
1339561 GRCh37: 1:11318556-11318556
GRCh38: 1:11258499-11258499
8 MTOR NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys) SNV Pathogenic
156702 rs587777893 GRCh37: 1:11188164-11188164
GRCh38: 1:11128107-11128107
9 MTOR NM_004958.4(MTOR):c.4883G>A (p.Arg1628His) SNV Likely Pathogenic
1687169 GRCh37: 1:11199705-11199705
GRCh38: 1:11139648-11139648
10 MTOR NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) SNV Likely Pathogenic
376455 rs1057519915 GRCh37: 1:11169375-11169375
GRCh38: 1:11109318-11109318
11 MTOR NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val) SNV Likely Pathogenic
1339560 GRCh37: 1:11186748-11186748
GRCh38: 1:11126691-11126691
12 MTOR NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) SNV Likely Pathogenic
1315329 GRCh37: 1:11291425-11291425
GRCh38: 1:11231368-11231368
13 MTOR NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) SNV Likely Pathogenic
391346 rs1057524044 GRCh37: 1:11174383-11174383
GRCh38: 1:11114326-11114326
14 MTOR NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln) SNV Likely Pathogenic
1065618 GRCh37: 1:11187191-11187191
GRCh38: 1:11127134-11127134
15 MTOR NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg) SNV Likely Pathogenic
1213694 GRCh37: 1:11298645-11298645
GRCh38: 1:11238588-11238588
16 MTOR NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val) SNV Likely Pathogenic
1320130 GRCh37: 1:11188182-11188182
GRCh38: 1:11128125-11128125
17 MTOR NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val) SNV Likely Pathogenic
1325857 GRCh37: 1:11168343-11168343
GRCh38: 1:11108286-11108286
18 MTOR NM_004958.4(MTOR):c.422C>T (p.Thr141Ile) SNV Uncertain Significance
1333927 GRCh37: 1:11317072-11317072
GRCh38: 1:11257015-11257015
19 MTOR NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter) DUP Uncertain Significance
1213781 GRCh37: 1:11187686-11187687
GRCh38: 1:11127629-11127630
20 MTOR NM_004958.4(MTOR):c.394C>T (p.Arg132Cys) SNV Uncertain Significance
1299590 GRCh37: 1:11317100-11317100
GRCh38: 1:11257043-11257043
21 MTOR NM_004958.4(MTOR):c.2959G>A (p.Val987Met) SNV Uncertain Significance
1299622 GRCh37: 1:11288796-11288796
GRCh38: 1:11228739-11228739
22 MTOR NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly) SNV Uncertain Significance
1028830 rs1288219609 GRCh37: 1:11303339-11303339
GRCh38: 1:11243282-11243282
23 MTOR NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser) SNV Uncertain Significance
1031480 rs201601333 GRCh37: 1:11301713-11301713
GRCh38: 1:11241656-11241656
24 MTOR NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del) DEL Uncertain Significance
931361 rs1641966003 GRCh37: 1:11172934-11172939
GRCh38: 1:11112877-11112882
25 MTOR NM_004958.4(MTOR):c.505-2A>G SNV Uncertain Significance
224150 rs869312706 GRCh37: 1:11316251-11316251
GRCh38: 1:11256194-11256194
26 MTOR-AS1, MTOR NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val) SNV Uncertain Significance
268210 rs886041096 GRCh37: 1:11206813-11206813
GRCh38: 1:11146756-11146756
27 MTOR NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr) SNV Uncertain Significance
1341918 GRCh37: 1:11217318-11217318
GRCh38: 1:11157261-11157261
28 MTOR NM_004958.4(MTOR):c.743C>T (p.Thr248Ile) SNV Uncertain Significance
587518 rs377679898 GRCh37: 1:11313993-11313993
GRCh38: 1:11253936-11253936
29 MTOR NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile) SNV Uncertain Significance
408296 rs139043855 GRCh37: 1:11189856-11189856
GRCh38: 1:11129799-11129799
30 MTOR-AS1, MTOR NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala) SNV Uncertain Significance
851388 rs1250124959 GRCh37: 1:11206822-11206822
GRCh38: 1:11146765-11146765
31 MTOR NM_004958.4(MTOR):c.2579A>T (p.Lys860Met) SNV Uncertain Significance
1028831 rs1441440583 GRCh37: 1:11291427-11291427
GRCh38: 1:11231370-11231370
32 MTOR NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser) SNV Uncertain Significance
1448067 GRCh37: 1:11177115-11177115
GRCh38: 1:11117058-11117058
33 MTOR NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val) SNV Uncertain Significance
660037 rs759436987 GRCh37: 1:11188531-11188531
GRCh38: 1:11128474-11128474
34 MTOR NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser) SNV Likely Benign
946584 rs778914291 GRCh37: 1:11307911-11307911
GRCh38: 1:11247854-11247854
35 MTOR NM_004958.4(MTOR):c.112G>A (p.Ala38Thr) SNV Likely Benign
652978 rs138117203 GRCh37: 1:11319355-11319355
GRCh38: 1:11259298-11259298
36 MTOR NM_004958.4(MTOR):c.5553C>T (p.Ser1851=) SNV Benign
380311 rs2275527 GRCh37: 1:11190646-11190646
GRCh38: 1:11130589-11130589
37 MTOR NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) SNV Benign
414895 rs56051835 GRCh37: 1:11184593-11184593
GRCh38: 1:11124536-11124536
38 MTOR NM_004958.4(MTOR):c.6909G>A (p.Leu2303=) SNV Benign
516652 rs11121691 GRCh37: 1:11181327-11181327
GRCh38: 1:11121270-11121270
39 MTOR NM_004958.4(MTOR):c.1437T>C (p.Asp479=) SNV Benign
516653 rs1135172 GRCh37: 1:11301714-11301714
GRCh38: 1:11241657-11241657
40 MTOR-AS1, MTOR NM_004958.4(MTOR):c.4731G>A (p.Ala1577=) SNV Benign
516654 rs1057079 GRCh37: 1:11205058-11205058
GRCh38: 1:11145001-11145001
41 MTOR NM_004958.4(MTOR):c.2997C>T (p.Asn999=) SNV Benign
1170840 GRCh37: 1:11288758-11288758
GRCh38: 1:11228701-11228701
42 MTOR NM_004958.4(MTOR):c.6034-30A>G SNV Benign
1270259 GRCh37: 1:11187893-11187893
GRCh38: 1:11127836-11127836
43 MTOR NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter) DUP Not Provided
918028 rs1642559236 GRCh37: 1:11182171-11182172
GRCh38: 1:11122114-11122115
44 MTOR NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val) SNV Not Provided
972961 rs1641758308 GRCh37: 1:11169762-11169762
GRCh38: 1:11109705-11109705

UniProtKB/Swiss-Prot genetic disease variations for Smith-Kingsmore Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MTOR p.Glu1799Lys VAR_075072 rs863225264
2 MTOR p.Trp1490Arg VAR_078832
3 MTOR p.Met1595Ile VAR_078833 rs869312671
4 MTOR p.Ala1832Thr VAR_078835 rs369088781
5 MTOR p.Phe1888Cys VAR_078836 rs869312666
6 MTOR p.Met2327Ile VAR_078840 rs878855328

Expression for Smith-Kingsmore Syndrome

Search GEO for disease gene expression data for Smith-Kingsmore Syndrome.

Pathways for Smith-Kingsmore Syndrome

GO Terms for Smith-Kingsmore Syndrome

Sources for Smith-Kingsmore Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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