MCID: SMT020
MIFTS: 30

Smith-Kingsmore Syndrome

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Smith-Kingsmore Syndrome

MalaCards integrated aliases for Smith-Kingsmore Syndrome:

Name: Smith-Kingsmore Syndrome 57 59 75 37 29 6
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome 57 59
Macrocephaly, Seizures, Mental Retardation, Umbilical Hernia, and Facial Dysmorphism 57 75
Minds Syndrome 57 59
Sks 57 75

Characteristics:

Orphanet epidemiological data:

59
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features present


HPO:

32
smith-kingsmore syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Smith-Kingsmore Syndrome

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)

MalaCards based summary : Smith-Kingsmore Syndrome, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, is related to actinic keratosis and neuroblastoma. An important gene associated with Smith-Kingsmore Syndrome is MTOR (Mechanistic Target Of Rapamycin Kinase), and among its related pathways/superpathways is mTOR signaling pathway. Affiliated tissues include pons, and related phenotypes are wide mouth and thin upper lip vermilion

UniProtKB/Swiss-Prot : 75 Smith-Kingsmore syndrome: 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
frontal bossing
large anterior fontanel
tall forehead

Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
mild prominence of the ventricular system
hypogenesis of the body and the splenium of the corpus callosum
generalized white matter loss
more
Abdomen External Features:
umbilical hernia
diastasis recti

Laboratory Abnormalities:
hypoglycemia

Hematology:
thrombocytopenia

Growth Other:
large for gestational age

Skeletal Feet:
deep plantar creases
short distal phalanges

Head And Neck Face:
midface hypoplasia
small chin

Skeletal Limbs:
rhizomelic limb shortening

Abdomen Gastrointestinal:
poor feeding

Skin Nails Hair Skin:
cafe-au-lait spots

Skin Nails Hair Nails:
small toenails

Cardiovascular Heart:
aortic sinus to right atrial fistula

Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures

Head And Neck Nose:
depressed nasal bridge
short nose

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

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
curly hair
wavy hair

Immunology:
iga deficiency

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

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

Chest External Features:
small thorax

Genitourinary Kidneys:
renal asymmetry

Growth Weight:
birth length >3 sd


Clinical features from OMIM:

616638

Human phenotypes related to Smith-Kingsmore Syndrome:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 thin upper lip vermilion 32 HP:0000219
3 macrocephaly 32 HP:0000256
4 wide anterior fontanel 32 HP:0000260
5 hypertelorism 32 HP:0000316
6 smooth philtrum 32 HP:0000319
7 short chin 32 HP:0000331
8 long philtrum 32 HP:0000343
9 high forehead 32 HP:0000348
10 downslanted palpebral fissures 32 HP:0000494
11 cafe-au-lait spot 32 HP:0000957
12 intellectual disability 32 HP:0001249
13 seizures 32 HP:0001250
14 generalized hypotonia 32 HP:0001290
15 deep plantar creases 32 HP:0001869
16 thrombocytopenia 32 HP:0001873
17 hypoglycemia 32 HP:0001943
18 frontal bossing 32 HP:0002007
19 curly hair 32 HP:0002212
20 iga deficiency 32 HP:0002720
21 short nose 32 HP:0003196
22 depressed nasal bridge 32 HP:0005280
23 deep palmar crease 32 HP:0006191
24 rhizomelia 32 HP:0008905
25 short proximal phalanx of finger 32 HP:0010241
26 midface retrusion 32 HP:0011800
27 perisylvian polymicrogyria 32 HP:0012650

Drugs & Therapeutics for Smith-Kingsmore Syndrome

Search Clinical Trials , 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 Smith-Kingsmore Syndrome 29 MTOR

Anatomical Context for Smith-Kingsmore Syndrome

MalaCards organs/tissues related to Smith-Kingsmore Syndrome:

41
Pons

Publications for Smith-Kingsmore Syndrome

Articles related to Smith-Kingsmore Syndrome:

# Title Authors Year
1
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G&amp;gt;A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. ( 27753196 )
2017

Variations for Smith-Kingsmore Syndrome

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

75
# 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

ClinVar genetic disease variations for Smith-Kingsmore Syndrome:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTOR NM_004958.3(MTOR): c.4448G> T (p.Cys1483Phe) single nucleotide variant Pathogenic rs786205165 GRCh37 Chromosome 1, 11217230: 11217230
2 MTOR NM_004958.3(MTOR): c.4448G> T (p.Cys1483Phe) single nucleotide variant Pathogenic rs786205165 GRCh38 Chromosome 1, 11157173: 11157173
3 MTOR NM_004958.3(MTOR): c.5395G> A (p.Glu1799Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs863225264 GRCh37 Chromosome 1, 11190804: 11190804
4 MTOR NM_004958.3(MTOR): c.5395G> A (p.Glu1799Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs863225264 GRCh38 Chromosome 1, 11130747: 11130747
5 MTOR NM_004958.3(MTOR): c.5663T> G (p.Phe1888Cys) single nucleotide variant Pathogenic rs869312666 GRCh37 Chromosome 1, 11189846: 11189846
6 MTOR NM_004958.3(MTOR): c.5663T> G (p.Phe1888Cys) single nucleotide variant Pathogenic rs869312666 GRCh38 Chromosome 1, 11129789: 11129789
7 MTOR NM_004958.3(MTOR): c.4785G> A (p.Met1595Ile) single nucleotide variant Pathogenic rs869312671 GRCh37 Chromosome 1, 11204792: 11204792
8 MTOR NM_004958.3(MTOR): c.4785G> A (p.Met1595Ile) single nucleotide variant Pathogenic rs869312671 GRCh38 Chromosome 1, 11144735: 11144735
9 MTOR NM_004958.3(MTOR): c.505-2A> G single nucleotide variant Uncertain significance rs869312706 GRCh37 Chromosome 1, 11316251: 11316251
10 MTOR NM_004958.3(MTOR): c.505-2A> G single nucleotide variant Uncertain significance rs869312706 GRCh38 Chromosome 1, 11256194: 11256194
11 MTOR NM_004958.3(MTOR): c.6981G> A (p.Met2327Ile) single nucleotide variant Pathogenic rs878855328 GRCh37 Chromosome 1, 11177096: 11177096
12 MTOR NM_004958.3(MTOR): c.6981G> A (p.Met2327Ile) single nucleotide variant Pathogenic rs878855328 GRCh38 Chromosome 1, 11117039: 11117039
13 MTOR NM_004958.3(MTOR): c.4606A> G (p.Ile1536Val) single nucleotide variant Uncertain significance rs886041096 GRCh37 Chromosome 1, 11206813: 11206813
14 MTOR NM_004958.3(MTOR): c.4606A> G (p.Ile1536Val) single nucleotide variant Uncertain significance rs886041096 GRCh38 Chromosome 1, 11146756: 11146756

Expression for Smith-Kingsmore Syndrome

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

Pathways for Smith-Kingsmore Syndrome

Pathways related to Smith-Kingsmore Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

GO Terms for Smith-Kingsmore Syndrome

Sources for Smith-Kingsmore Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....