Sotos Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SOTOS2 MCID: STS007 MIFTS: 37	Sotos Syndrome 2 (SOTOS2) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Sotos Syndrome 2

MalaCards integrated aliases for Sotos Syndrome 2:

Name: Sotos Syndrome 2 ⁵⁷ ¹² ⁵⁸ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Sotos2 ⁵⁷ ¹² ⁷³

Malan Syndrome ⁵⁷ ⁷³

Malan Overgrowth Syndrome ⁵⁸

Sotos Syndrome, Type 2 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

malan overgrowth syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

HPO:

³¹

sotos syndrome 2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes involving early overgrowth

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0112102

OMIM® ⁵⁷ 614753

OMIM Phenotypic Series ⁵⁷ PS117550

MeSH ⁴⁴ D058495

ICD10 via Orphanet ³³ Q87.3

Orphanet ⁵⁸ ORPHA420179

MedGen ⁴¹ C3553660 CN130953

UMLS ⁷¹ C3553660

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Summaries for Sotos Syndrome 2

OMIM® : ⁵⁷ Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present (summary by Martinez et al., 2015). For a discussion of genetic heterogeneity of Sotos syndrome, see 117550. (614753) (Updated 05-Mar-2021)

MalaCards based summary : Sotos Syndrome 2, also known as sotos2, is related to marshall-smith syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Sotos Syndrome 2 is NFIX (Nuclear Factor I X). Affiliated tissues include bone and eye, and related phenotypes are accelerated skeletal maturation and macrocephaly

Disease Ontology : ¹² A Sotos syndrome that has material basis in heterozygous mutation in NFIX on chromosome 19p13.

UniProtKB/Swiss-Prot : ⁷³ Sotos syndrome 2: A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.

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Related Diseases for Sotos Syndrome 2

Diseases in the Sotos Syndrome 1 family:

Sotos Syndrome 2

Sotos Syndrome 3

Diseases related to Sotos Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)

#	Related Disease	Score	Top Affiliating Genes
1	marshall-smith syndrome	29.7	NFIX LYL1
2	alacrima, achalasia, and mental retardation syndrome	10.3
3	scoliosis	10.1
4	ezh2-related overgrowth	10.1
5	hypotonia	10.1
6	sotos syndrome 1	9.9
7	overgrowth syndrome	9.9
8	episodic ataxia, type 2	9.9
9	chiari malformation type i	9.9
10	migraine with or without aura 1	9.9
11	pectus excavatum	9.9
12	strabismus	9.9
13	macrocephaly/megalencephaly syndrome, autosomal recessive	9.9
14	weaver syndrome	9.9
15	ataxia and polyneuropathy, adult-onset	9.9
16	aortic aneurysm, familial thoracic 1	9.9
17	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	9.9
18	familial hemiplegic migraine	9.9
19	epilepsy	9.9
20	aortic aneurysm	9.9
21	learning disability	9.9
22	mechanical strabismus	9.9
23	episodic ataxia	9.9
24	pathologic nystagmus	9.9
25	chiari malformation	9.9
26	aneurysm	9.9
27	megalencephaly	9.9

Graphical network of the top 20 diseases related to Sotos Syndrome 2:

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Symptoms & Phenotypes for Sotos Syndrome 2

Human phenotypes related to Sotos Syndrome 2:

⁵⁸ ³¹ (show top 50) (show all 53)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	accelerated skeletal maturation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005616
2	macrocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000256
3	neonatal hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001319
4	feeding difficulties in infancy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008872
5	prominent forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011220
6	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
7	low posterior hairline ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002162
8	pectus excavatum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000767
9	slender long bone ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003100
10	narrow face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000275
11	downslanted palpebral fissures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000494
12	intellectual disability, moderate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002342
13	high forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000348
14	tall stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000098
15	hypoplasia of the corpus callosum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002079
16	oval face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000300
17	frontal bossing ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002007
18	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
19	nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000639
20	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
21	depressed nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005280
22	intellectual disability, mild ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001256
23	intellectual disability, severe ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010864
24	anxiety ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000739
25	narrow mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000160
26	facial asymmetry ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000324
27	deeply set eye ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000490
28	pointed chin ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000307
29	migraine ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002076
30	plagiocephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001357
31	optic disc pallor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000543
32	optic disc hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007766
33	episodic ataxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002131
34	hypoplasia of the brainstem ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002365
35	scaphocephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030799
36	dilation of lateral ventricles ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006956
37	seizure ³¹	occasional (7.5%)		HP:0001250
38	ventriculomegaly ⁵⁸ ³¹		Frequent (79-30%)	HP:0002119
39	intellectual disability ³¹			HP:0001249
40	seizures ⁵⁸		Occasional (29-5%)
41	mandibular prognathia ³¹			HP:0000303
42	delayed speech and language development ³¹			HP:0000750
43	everted lower lip vermilion ³¹			HP:0000232
44	motor delay ³¹			HP:0001270
45	long face ³¹			HP:0000276
46	coxa valga ³¹			HP:0002673
47	advanced eruption of teeth ³¹			HP:0006288
48	cutis marmorata ³¹			HP:0000965
49	astigmatism ³¹			HP:0000483
50	generalized hypotonia ³¹			HP:0001290

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Head:
macrocephaly
high forehead

Chest External Features:
pectus excavatum

Skeletal Limbs:
coxa valga

Neurologic Central Nervous System:
hypotonia
mental retardation
speech delay
motor retardation
ventricular dilatation
more

Head And Neck Mouth:
small mouth
prognathia
everted lower lip

Growth Height:
birth height above centile 95
postnatal height above centile 98

Growth Other:
height-weight ratio bellow centile 25

Skin Nails Hair Skin:
livedo reticularis, generalized

Neurologic Behavioral Psychiatric Manifestations:
autistic traits
behavioral anomalies

Head And Neck Eyes:
nystagmus
strabismus
astigmatism
hypermetropia
downslanting palpebral fissures

Head And Neck Face:
narrow face
long face

Skeletal Hands:
long fingers

Skeletal:
advanced bone age

Head And Neck Teeth:
premature eruption of teeth

Growth Weight:
birth weight above centile 95

Abdomen External Features:
abdominal wall hypotonia

Skin Nails Hair Nails:
malformed nails

Clinical features from OMIM®:

614753 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Sotos Syndrome 2

Search Clinical Trials , NIH Clinical Center for Sotos Syndrome 2

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Genetic Tests for Sotos Syndrome 2

Genetic tests related to Sotos Syndrome 2:

#	Genetic test	Affiliating Genes
1	Sotos Syndrome 2 ²⁹	NFIX

Sources

Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

⁴⁰

Bone, Eye

Sources

Publications for Sotos Syndrome 2

Articles related to Sotos Syndrome 2:

#	Title	Authors	PMID	Year
1	Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. ⁵⁷ ⁶	Yoneda Y...Matsumoto N	22301465	2012
2	Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. ⁵⁷ ⁶	Malan V...Cormier-Daire V	20673863	2010
3	Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. ⁵⁷ ⁶¹	Jezela-Stanek A...Krajewska-Walasek M	26927468	2016
4	Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. ⁵⁷	Martinez F...Orellana C	26200704	2015
5	19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. ⁶¹	Trimouille A...Moutton S	29184170	2018
6	An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. ⁶¹	Shimojima K...Yamamoto T	25736188	2015
7	Sotos syndrome 1 and 2. ⁶¹	Sotos JF	25345081	2014

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Genes for Sotos Syndrome 2

Genes related to Sotos Syndrome 2 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NFIX	Nuclear Factor I X	Protein Coding	1693.33	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	22301465
2	LYL1	LYL1 Basic Helix-Loop-Helix Family Member	Protein Coding	400	Pathogenic ⁶

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Variations for Sotos Syndrome 2

ClinVar genetic disease variations for Sotos Syndrome 2:

⁶ (show all 40)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NFIX	NM_002501.4(NFIX):c.179T>C (p.Leu60Pro)	SNV	Pathogenic	36966	rs387907254	19:13135986-13135986	19:13025172-13025172
2	NFIX	NM_002501.4(NFIX):c.362G>C (p.Arg121Pro)	SNV	Pathogenic	36967	rs387907255	19:13136169-13136169	19:13025355-13025355
3	NFIX	NM_002501.4(NFIX):c.73del (p.Ala25fs)	Deletion	Pathogenic	431130	rs1135401802	19:13135880-13135880	19:13025066-13025066
4	NFIX	NM_002501.4(NFIX):c.338_342dup (p.Arg116fs)	Duplication	Pathogenic	209174	rs797045056	19:13136144-13136145	19:13025330-13025331
5	NFIX	NM_002501.4(NFIX):c.716C>G (p.Ser239Ter)	SNV	Pathogenic	92044	rs587779381	19:13184738-13184738	19:13073924-13073924
6	NFIX	NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter)	SNV	Pathogenic	976042		19:13135994-13135994	19:13025180-13025180
7	NFIX	NM_002501.4(NFIX):c.568C>T (p.Gln190Ter)	SNV	Pathogenic	36956	rs387907253	19:13183869-13183869	19:13073055-13073055
8	LYL1	NC_000019.9:g.(?_13106632)_(13428155_?)del	Deletion	Pathogenic	473244		19:13106632-13428155
9	NFIX	NC_000019.10:g.(?_13075535)_(13078735_?)del	Deletion	Pathogenic	583425		19:13186349-13189549	19:13075535-13078735
10	NFIX	NM_002501.4(NFIX):c.136A>T (p.Lys46Ter)	SNV	Pathogenic	620018	rs1568268397	19:13135943-13135943	19:13025129-13025129
11	NFIX	NM_002501.4(NFIX):c.232A>T (p.Lys78Ter)	SNV	Pathogenic	639180	rs1599738036	19:13136039-13136039	19:13025225-13025225
12	NFIX	NM_002501.4(NFIX):c.303dup (p.Cys102fs)	Duplication	Pathogenic	654601	rs886041304	19:13136104-13136105	19:13025290-13025291
13	NFIX	NM_002501.4(NFIX):c.43_49dup (p.Glu17fs)	Duplication	Pathogenic	661035	rs1599737421	19:13135847-13135848	19:13025033-13025034
14	NFIX	NC_000019.9:g.(?_13186329)_(13189569_?)dup	Duplication	Pathogenic	665055		19:13186329-13189569	19:13075515-13078755
15	NFIX	NM_002501.4(NFIX):c.358del (p.Leu120fs)	Deletion	Pathogenic	540464	rs1555696611	19:13136164-13136164	19:13025350-13025350
16	NFIX	NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)	Duplication	Pathogenic	842270		19:13135863-13135864	19:13025049-13025050
17	NFIX	NC_000019.10:g.(?_13087969)_(13094669_?)del	Deletion	Pathogenic	833187		19:13198783-13205483
18	NFIX	NM_002501.4(NFIX):c.955+2T>C	SNV	Likely pathogenic	581126	rs1568318932	19:13186487-13186487	19:13075673-13075673
19	NFIX	NM_002501.4(NFIX):c.361C>T (p.Arg121Cys)	SNV	Likely pathogenic	208724	rs797044911	19:13136168-13136168	19:13025354-13025354
20	NFIX	NM_001365902.3(NFIX):c.113G>A (p.Arg38His)	SNV	Likely pathogenic	976670		19:13135920-13135920	19:13025106-13025106
21	NFIX	NM_001365902.3(NFIX):c.220del (p.Arg74fs)	Deletion	Likely pathogenic	982716		19:13136025-13136025	19:13025211-13025211
22	NFIX	NM_002501.4(NFIX):c.467G>C (p.Cys156Ser)	SNV	Likely pathogenic	496680	rs1555696641	19:13136274-13136274	19:13025460-13025460
23	NFIX	NM_002501.4(NFIX):c.143T>A (p.Met48Lys)	SNV	Likely pathogenic	452926	rs1555696484	19:13135950-13135950	19:13025136-13025136
24	NFIX	NM_002501.4(NFIX):c.337A>G (p.Lys113Glu)	SNV	Likely pathogenic	559884	rs1555696597	19:13136144-13136144	19:13025330-13025330
25	NFIX	NM_002501.4(NFIX):c.772del (p.Gln258fs)	Deletion	Likely pathogenic	928738		19:13184793-13184793	19:13073979-13073979
26	NFIX	NM_002501.4(NFIX):c.818+1G>A	SNV	Likely pathogenic	928739		19:13184841-13184841	19:13074027-13074027
27	NFIX	NM_002501.4(NFIX):c.143T>C (p.Met48Thr)	SNV	Uncertain significance	653227	rs1555696484	19:13135950-13135950	19:13025136-13025136
28	NFIX	NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu)	SNV	Uncertain significance	843697		19:13135920-13135920	19:13025106-13025106
29	NFIX	NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro)	SNV	Uncertain significance	862100		19:13201133-13201133	19:13090319-13090319
30	NFIX	NM_001365902.3(NFIX):c.818+5G>A	SNV	Uncertain significance	950716		19:13184845-13184845	19:13074031-13074031
31	NFIX	NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser)	SNV	Uncertain significance	965765		19:13192662-13192662	19:13081848-13081848
32	NFIX	NM_002501.4(NFIX):c.988G>A (p.Asp330Asn)	SNV	Uncertain significance	565825	rs1215112413	19:13189459-13189459	19:13078645-13078645
33	NFIX	NM_002501.4(NFIX):c.252G>T (p.Arg84=)	SNV	Likely benign	771267	rs769513682	19:13136059-13136059	19:13025245-13025245
34	NFIX	NM_002501.4(NFIX):c.600G>A (p.Ala200=)	SNV	Likely benign	783249	rs367591626	19:13183901-13183901	19:13073087-13073087
35	NFIX	NM_002501.4(NFIX):c.1143C>T (p.Ser381=)	SNV	Likely benign	707572	rs777733912	19:13192558-13192558	19:13081744-13081744
36	NFIX	NM_002501.4(NFIX):c.117G>A (p.Lys39=)	SNV	Likely benign	707679	rs148229471	19:13135924-13135924	19:13025110-13025110
37	NFIX	NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)	SNV	Likely benign	833858		19:13192650-13192650	19:13081836-13081836
38	NFIX	NM_002501.4(NFIX):c.183G>A (p.Leu61=)	SNV	Likely benign	389919	rs369196245	19:13135990-13135990	19:13025176-13025176
39	NFIX	NM_002501.4(NFIX):c.1140G>A (p.Ser380=)	SNV	Benign	198780	rs201174259	19:13192555-13192555	19:13081741-13081741
40	NFIX	NM_002501.4(NFIX):c.1236G>A (p.Ser412=)	SNV	Benign	767492	rs367955217	19:13192651-13192651	19:13081837-13081837

UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	NFIX	p.Leu60Pro	VAR_068720	rs387907254
2	NFIX	p.Arg121Pro	VAR_068721	rs387907255
3	NFIX	p.Arg38Cys	VAR_077571
4	NFIX	p.Arg54Pro	VAR_077572
5	NFIX	p.Arg116Pro	VAR_077573
6	NFIX	p.Lys125Glu	VAR_077574

Sources

Expression for Sotos Syndrome 2

Search GEO for disease gene expression data for Sotos Syndrome 2.

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Pathways for Sotos Syndrome 2

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GO Terms for Sotos Syndrome 2

Cellular components related to Sotos Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	8.62	NFIX LYL1

Biological processes related to Sotos Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription, DNA-templated	GO:0006355	8.62	NFIX LYL1

Molecular functions related to Sotos Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	8.96	NFIX LYL1
2	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	8.62	NFIX LYL1

Sources

Sources for Sotos Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Sotos Syndrome 2 (SOTOS2)

Aliases & Classifications for Sotos Syndrome 2

MalaCards integrated aliases for Sotos Syndrome 2:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Sotos Syndrome 2

Related Diseases for Sotos Syndrome 2

Diseases in the Sotos Syndrome 1 family:

Diseases related to Sotos Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Sotos Syndrome 2:

Symptoms & Phenotypes for Sotos Syndrome 2

Human phenotypes related to Sotos Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Sotos Syndrome 2

Genetic Tests for Sotos Syndrome 2

Genetic tests related to Sotos Syndrome 2:

Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

Publications for Sotos Syndrome 2

Articles related to Sotos Syndrome 2:

Genes for Sotos Syndrome 2

Genes related to Sotos Syndrome 2 (2 elite genes):

Variations for Sotos Syndrome 2

ClinVar genetic disease variations for Sotos Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome 2:

Expression for Sotos Syndrome 2

Pathways for Sotos Syndrome 2

GO Terms for Sotos Syndrome 2

Cellular components related to Sotos Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Sotos Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Sotos Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Sotos Syndrome 2