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 ⁵⁷ ⁵⁹ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Malan Syndrome ⁵⁷ ⁷⁵

Sotos2 ⁵⁷ ⁷⁵

Malan Overgrowth Syndrome ⁵⁹

Sotos Syndrome, Type 2 ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

sotos syndrome 2:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes involving early overgrowth

Orphanet: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 614753

Orphanet ⁵⁹ ORPHA420179

ICD10 via Orphanet ³⁴ Q87.3

MedGen ⁴² C3553660 CN130953

MeSH ⁴⁴ D058495

UMLS ⁷³ C3553660

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Summaries for Sotos Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁵ 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 sotos syndrome 1. An important gene associated with Sotos Syndrome 2 is NFIX (Nuclear Factor I X). Affiliated tissues include bone, 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	Top Affiliating Genes
1	sotos syndrome 1	9.8

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Symptoms & Phenotypes for Sotos Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Sotos Syndrome 2:

³² (show all 26)

#	Description	HPO Source Accession
1	macrocephaly ³²	HP:0000256
2	pectus excavatum ³²	HP:0000767
3	nystagmus ³²	HP:0000639
4	intellectual disability ³²	HP:0001249
5	scoliosis ³²	HP:0002650
6	mandibular prognathia ³²	HP:0000303
7	delayed speech and language development ³²	HP:0000750
8	strabismus ³²	HP:0000486
9	coxa valga ³²	HP:0002673
10	everted lower lip vermilion ³²	HP:0000232
11	anxiety ³²	HP:0000739
12	ventriculomegaly ³²	HP:0002119
13	narrow face ³²	HP:0000275
14	downslanted palpebral fissures ³²	HP:0000494
15	narrow mouth ³²	HP:0000160
16	long face ³²	HP:0000276
17	high forehead ³²	HP:0000348
18	advanced eruption of teeth ³²	HP:0006288
19	motor delay ³²	HP:0001270
20	accelerated skeletal maturation ³²	HP:0005616
21	astigmatism ³²	HP:0000483
22	cutis marmorata ³²	HP:0000965
23	generalized hypotonia ³²	HP:0001290
24	overgrowth ³²	HP:0001548
25	long fingers ³²	HP:0100807
26	hypermetropia ³²	HP:0000540

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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

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Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

⁴¹

Bone

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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

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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	1678.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22301465 20673863

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Variations for Sotos Syndrome 2

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

⁷⁵

#	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 21)

#	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_342dupAGATC (p.Arg116Serfs)	duplication	Pathogenic	rs797045056	GRCh37	Chromosome 19, 13136145: 13136149
12	NFIX	NM_002501.3(NFIX): c.338_342dupAGATC (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	GRCh38	Chromosome 19, 13025176: 13025176
14	NFIX	NM_001271043.2(NFIX): c.207G> A (p.Leu69=)	single nucleotide variant	Likely benign	rs369196245	GRCh37	Chromosome 19, 13135990: 13135990
15	NFIX	NM_002501.3(NFIX): c.73delG (p.Ala25Leufs)	deletion	Pathogenic	rs1135401802	GRCh37	Chromosome 19, 13135880: 13135880
16	NFIX	NM_002501.3(NFIX): c.73delG (p.Ala25Leufs)	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		GRCh37	Chromosome 19, 13136274: 13136274
19	NFIX	NM_002501.3(NFIX): c.467G> C (p.Cys156Ser)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 19, 13025460: 13025460
20	NFIX	NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs)	deletion	Pathogenic		GRCh38	Chromosome 19, 13025351: 13025351
21	NFIX	NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs)	deletion	Pathogenic		GRCh37	Chromosome 19, 13136165: 13136165

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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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