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

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Aliases & Classifications for Sotos Syndrome 2

MalaCards integrated aliases for Sotos Syndrome 2:

Name: Sotos Syndrome 2 ⁵⁸ ⁶⁰ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Malan Syndrome ⁵⁸ ⁷⁶

Sotos2 ⁵⁸ ⁷⁶

Malan Overgrowth Syndrome ⁶⁰

Sotos Syndrome, Type 2 ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

sotos syndrome 2:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes involving early overgrowth

Orphanet: ⁶⁰

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 614753

MeSH ⁴⁵ D058495

ICD10 via Orphanet ³⁵ Q87.3

Orphanet ⁶⁰ ORPHA420179

MedGen ⁴³ C3553660 CN130953

UMLS ⁷⁴ C3553660

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Summaries for Sotos Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁶ 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.

MalaCards based summary : Sotos Syndrome 2, also known as malan syndrome, is related to aortic aneurysm, familial thoracic 1 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 macrocephaly and pectus excavatum

Description from OMIM: 614753

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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:

#	Related Disease	Score
1	aortic aneurysm, familial thoracic 1	10.0
2	alacrima, achalasia, and mental retardation syndrome	10.0
3	epilepsy	10.0
4	aortic aneurysm	10.0
5	chiari malformation	10.0
6	sotos syndrome 1	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:

³³ (show all 26)

#	Description	HPO Source Accession
1	macrocephaly ³³	HP:0000256
2	pectus excavatum ³³	HP:0000767
3	nystagmus ³³	HP:0000639
4	intellectual disability ³³	HP:0001249
5	scoliosis ³³	HP:0002650
6	mandibular prognathia ³³	HP:0000303
7	delayed speech and language development ³³	HP:0000750
8	strabismus ³³	HP:0000486
9	coxa valga ³³	HP:0002673
10	everted lower lip vermilion ³³	HP:0000232
11	anxiety ³³	HP:0000739
12	ventriculomegaly ³³	HP:0002119
13	motor delay ³³	HP:0001270
14	narrow face ³³	HP:0000275
15	downslanted palpebral fissures ³³	HP:0000494
16	narrow mouth ³³	HP:0000160
17	long face ³³	HP:0000276
18	high forehead ³³	HP:0000348
19	advanced eruption of teeth ³³	HP:0006288
20	accelerated skeletal maturation ³³	HP:0005616
21	astigmatism ³³	HP:0000483
22	generalized hypotonia ³³	HP:0001290
23	cutis marmorata ³³	HP:0000965
24	overgrowth ³³	HP:0001548
25	long fingers ³³	HP:0100807
26	hypermetropia ³³	HP:0000540

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
macrocephaly
high forehead

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

Head And Neck Face:
narrow face
long face

Neurologic Central Nervous System:
hypotonia
mental retardation
motor retardation
speech delay
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

Chest External Features:
pectus excavatum

Skeletal Limbs:
coxa valga

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

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Drugs & Therapeutics for Sotos Syndrome 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search 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 ³⁰	NFIX

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Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

⁴²

Bone, Eye

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Publications for Sotos Syndrome 2

Articles related to Sotos Syndrome 2:

#	Title	Authors	Year
1	Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. ( 26927468 )	Jezela-Stanek A...Krajewska-Walasek M	2016
2	Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. ( 22301465 )	Yoneda Y...Matsumoto N	2012
3	Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. ( 20673863 )	Malan V...Cormier-Daire V	2010

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Genes for Sotos Syndrome 2

Genes related to Sotos Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NFIX	Nuclear Factor I X	Protein Coding	1678.28	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	20673863 22301465

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Variations for Sotos Syndrome 2

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

⁷⁶

#	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

ClinVar genetic disease variations for Sotos Syndrome 2:

⁶ (show all 33)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NFIX	NM_002501.3(NFIX): c.568C> T (p.Gln190Ter)	single nucleotide variant	Pathogenic	rs387907253	GRCh37	Chromosome 19, 13183869: 13183869
2	NFIX	NM_002501.3(NFIX): c.568C> T (p.Gln190Ter)	single nucleotide variant	Pathogenic	rs387907253	GRCh38	Chromosome 19, 13073055: 13073055
3	NFIX	NM_002501.3(NFIX): c.179T> C (p.Leu60Pro)	single nucleotide variant	Pathogenic	rs387907254	GRCh37	Chromosome 19, 13135986: 13135986
4	NFIX	NM_002501.3(NFIX): c.179T> C (p.Leu60Pro)	single nucleotide variant	Pathogenic	rs387907254	GRCh38	Chromosome 19, 13025172: 13025172
5	NFIX	NM_002501.3(NFIX): c.362G> C (p.Arg121Pro)	single nucleotide variant	Pathogenic	rs387907255	GRCh37	Chromosome 19, 13136169: 13136169
6	NFIX	NM_002501.3(NFIX): c.362G> C (p.Arg121Pro)	single nucleotide variant	Pathogenic	rs387907255	GRCh38	Chromosome 19, 13025355: 13025355
7	NFIX	NM_002501.3(NFIX): c.716C> G (p.Ser239Ter)	single nucleotide variant	Pathogenic	rs587779381	GRCh37	Chromosome 19, 13184738: 13184738
8	NFIX	NM_002501.3(NFIX): c.716C> G (p.Ser239Ter)	single nucleotide variant	Pathogenic	rs587779381	GRCh38	Chromosome 19, 13073924: 13073924
9	NFIX	NM_001271043.2(NFIX): c.1164G> A (p.Ser388=)	single nucleotide variant	Benign	rs201174259	GRCh37	Chromosome 19, 13192555: 13192555
10	NFIX	NM_001271043.2(NFIX): c.1164G> A (p.Ser388=)	single nucleotide variant	Benign	rs201174259	GRCh38	Chromosome 19, 13081741: 13081741
11	NFIX	NM_002501.3(NFIX): c.338_342dup (p.Arg116Serfs)	duplication	Pathogenic	rs797045056	GRCh37	Chromosome 19, 13136145: 13136149
12	NFIX	NM_002501.3(NFIX): c.338_342dup (p.Arg116Serfs)	duplication	Pathogenic	rs797045056	GRCh38	Chromosome 19, 13025331: 13025335
13	NFIX	NM_001271043.2(NFIX): c.207G> A (p.Leu69=)	single nucleotide variant	Likely benign	rs369196245	GRCh37	Chromosome 19, 13135990: 13135990
14	NFIX	NM_001271043.2(NFIX): c.207G> A (p.Leu69=)	single nucleotide variant	Likely benign	rs369196245	GRCh38	Chromosome 19, 13025176: 13025176
15	NFIX	NM_001271043.2(NFIX): c.97del (p.Ala33Leufs)	deletion	Pathogenic	rs1135401802	GRCh37	Chromosome 19, 13135880: 13135880
16	NFIX	NM_001271043.2(NFIX): c.97del (p.Ala33Leufs)	deletion	Pathogenic	rs1135401802	GRCh38	Chromosome 19, 13025066: 13025066
17	NFIX	NC_000019.9: g.(?_13106632)_(13428155_?)del	deletion	Pathogenic		GRCh37	Chromosome 19, 13106632: 13428155
18	NFIX	NM_002501.3(NFIX): c.467G> C (p.Cys156Ser)	single nucleotide variant	Likely pathogenic	rs1555696641	GRCh37	Chromosome 19, 13136274: 13136274
19	NFIX	NM_002501.3(NFIX): c.467G> C (p.Cys156Ser)	single nucleotide variant	Likely pathogenic	rs1555696641	GRCh38	Chromosome 19, 13025460: 13025460
20	NFIX	NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs)	deletion	Pathogenic	rs1555696611	GRCh37	Chromosome 19, 13136165: 13136165
21	NFIX	NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs)	deletion	Pathogenic	rs1555696611	GRCh38	Chromosome 19, 13025351: 13025351
22	NFIX	NM_001271043.2(NFIX): c.361A> G (p.Lys121Glu)	single nucleotide variant	Likely pathogenic	rs1555696597	GRCh37	Chromosome 19, 13136144: 13136144
23	NFIX	NM_001271043.2(NFIX): c.361A> G (p.Lys121Glu)	single nucleotide variant	Likely pathogenic	rs1555696597	GRCh38	Chromosome 19, 13025330: 13025330
24	NFIX	NM_001271043.2(NFIX): c.811C> T (p.Arg271Trp)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 19, 13184809: 13184809
25	NFIX	NM_001271043.2(NFIX): c.811C> T (p.Arg271Trp)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 19, 13073995: 13073995
26	NFIX	NC_000019.10: g.(?_13075535)_(13078735_?)del	deletion	Pathogenic		GRCh38	Chromosome 19, 13075535: 13078735
27	NFIX	NC_000019.10: g.(?_13075535)_(13078735_?)del	deletion	Pathogenic		GRCh37	Chromosome 19, 13186349: 13189549
28	NFIX	NM_001271043.2(NFIX): c.1012G> A (p.Asp338Asn)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 19, 13078645: 13078645
29	NFIX	NM_001271043.2(NFIX): c.1012G> A (p.Asp338Asn)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 19, 13189459: 13189459
30	NFIX	NM_001271043.2(NFIX): c.979+2T> C	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 19, 13186487: 13186487
31	NFIX	NM_001271043.2(NFIX): c.979+2T> C	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 19, 13075673: 13075673
32	NFIX	NM_001271043.2(NFIX): c.160A> T (p.Lys54Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 19, 13025129: 13025129
33	NFIX	NM_001271043.2(NFIX): c.160A> T (p.Lys54Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 19, 13135943: 13135943

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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

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Sources for Sotos Syndrome 2

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⁷⁴ UMLS

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Interventional clinical trials:

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 (1 elite genes):

Variations for Sotos Syndrome 2

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

ClinVar genetic disease variations for Sotos Syndrome 2:

Expression for Sotos Syndrome 2

Pathways for Sotos Syndrome 2

GO Terms for Sotos Syndrome 2

Sources for Sotos Syndrome 2