Smith-Kingsmore Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616638

Orphanet ⁵⁹ ORPHA457485

MedGen ⁴² C4225259 CN233222

MeSH ⁴⁴ D006554 D008607 D012640 more

KEGG ³⁷ H01928

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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.

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Related Diseases for Smith-Kingsmore Syndrome

Diseases related to Smith-Kingsmore Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)

#	Related Disease	Score
1	actinic keratosis	10.9
2	neuroblastoma	10.7
3	melanoma	10.3
4	neuronitis	10.3
5	ovarian cancer	10.1
6	breast cancer	10.1
7	hepatocellular carcinoma	10.1
8	sarcoma	10.0
9	keratoconus	9.9
10	adenocarcinoma	9.9
11	hypoxia	9.9
12	lung cancer	9.9
13	ovarian cancer 1	9.9
14	glioma	9.9
15	diabetes mellitus, noninsulin-dependent	9.8
16	renal cell carcinoma, nonpapillary	9.8
17	ewing sarcoma	9.8
18	hepatitis	9.8
19	leiomyosarcoma	9.8
20	cerebritis	9.8
21	breast adenocarcinoma	9.8
22	neuropathy	9.8
23	alzheimer disease	9.6
24	thyroid carcinoma, familial medullary	9.6
25	schizophrenia	9.6
26	osteogenic sarcoma	9.6
27	insulin-like growth factor i	9.6
28	wilms tumor 5	9.6
29	aceruloplasminemia	9.6
30	myocardial infarction	9.6
31	human immunodeficiency virus type 1	9.6
32	ataxia-oculomotor apraxia 3	9.6
33	wilms tumor 6	9.6
34	acute myocardial infarction	9.6
35	b-cell lymphomas	9.6
36	leukemia	9.6
37	lymphoma	9.6
38	pertussis	9.6
39	corneal ectasia	9.6
40	squamous cell carcinoma	9.6
41	colon adenocarcinoma	9.6
42	ovary adenocarcinoma	9.6
43	lung squamous cell carcinoma	9.6
44	clear cell renal cell carcinoma	9.6
45	t-cell leukemia	9.6
46	thyroiditis	9.6
47	herpes simplex	9.6
48	skin melanoma	9.6
49	type i	9.6
50	glioblastoma	9.6

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

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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 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

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Drugs & Therapeutics for Smith-Kingsmore Syndrome

Search Clinical Trials , NIH Clinical Center for Smith-Kingsmore Syndrome

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Genetic Tests for Smith-Kingsmore Syndrome

Genetic tests related to Smith-Kingsmore Syndrome:

#	Genetic test	Affiliating Genes
1	Smith-Kingsmore Syndrome ²⁹	MTOR

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Anatomical Context for Smith-Kingsmore Syndrome

MalaCards organs/tissues related to Smith-Kingsmore Syndrome:

⁴¹

Pons

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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&gt;A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. ( 27753196 )	Moosa S....Wollnik B.	2017

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Genes for Smith-Kingsmore Syndrome

Genes related to Smith-Kingsmore Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1688.49	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	25851998 27159400 27753196
2	MTOR-AS1	MTOR Antisense RNA 1	RNA Gene	7.99	GeneCards inferred via : Variants (show sections)

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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

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Expression for Smith-Kingsmore Syndrome

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

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Pathways for Smith-Kingsmore Syndrome

Pathways related to Smith-Kingsmore Syndrome according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	mTOR signaling pathway	hsa04150

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GO Terms for Smith-Kingsmore Syndrome

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Sources for Smith-Kingsmore Syndrome

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