SSMS
MCID: SZR018
MIFTS: 26

Seizures, Scoliosis, and Macrocephaly Syndrome (SSMS)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Scoliosis, and Macrocephaly Syndrome

MalaCards integrated aliases for Seizures, Scoliosis, and Macrocephaly Syndrome:

Name: Seizures, Scoliosis, and Macrocephaly Syndrome 58 76 30 6 41
Seizures-Scoliosis-Macrocephaly Syndrome 60 76
Ssms 58 76
Ssm Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
onset of seizures between 2 and 5 years
four sibs from the old order mennonite community has been reported (last curated december 2015)


HPO:

33
seizures, scoliosis, and macrocephaly syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seizures, Scoliosis, and Macrocephaly Syndrome

UniProtKB/Swiss-Prot : 76 Seizures, scoliosis, and macrocephaly syndrome: An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.

MalaCards based summary : Seizures, Scoliosis, and Macrocephaly Syndrome, also known as seizures-scoliosis-macrocephaly syndrome, is related to superficial spreading melanoma and melanoma. An important gene associated with Seizures, Scoliosis, and Macrocephaly Syndrome is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include skin and brain, and related phenotypes are macrocephaly and hypertelorism

Description from OMIM: 616682

Related Diseases for Seizures, Scoliosis, and Macrocephaly Syndrome

Diseases related to Seizures, Scoliosis, and Macrocephaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 superficial spreading melanoma 11.5
2 melanoma 10.3
3 lentigines 10.0
4 disorganization, mouse, homolog of 10.0
5 galactosemia 10.0
6 dermatitis, atopic 10.0
7 hepatitis 10.0
8 hepatitis b 10.0
9 ptosis 10.0
10 nodular malignant melanoma 10.0
11 dermatitis 10.0
12 eosinophilia-myalgia syndrome 10.0

Graphical network of the top 20 diseases related to Seizures, Scoliosis, and Macrocephaly Syndrome:



Diseases related to Seizures, Scoliosis, and Macrocephaly Syndrome

Symptoms & Phenotypes for Seizures, Scoliosis, and Macrocephaly Syndrome

Human phenotypes related to Seizures, Scoliosis, and Macrocephaly Syndrome:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 seizures 33 HP:0001250
4 constipation 33 HP:0002019
5 scoliosis 33 HP:0002650
6 coarse facial features 33 HP:0000280
7 global developmental delay 33 HP:0001263
8 gastroesophageal reflux 33 HP:0002020
9 strabismus 33 HP:0000486
10 cryptorchidism 33 HP:0000028
11 ventricular septal defect 33 HP:0001629
12 generalized hypotonia 33 HP:0001290
13 poor speech 33 HP:0002465
14 overlapping toe 33 HP:0001845
15 hypoplastic philtrum 33 HP:0005326

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
seizures
poor speech
delayed psychomotor development
nonspecific background slowing with focal spikes seen on eeg
brain hemorrhage (in 2 of 4 patients)

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
overlapping toes

Cardiovascular Heart:
ventricular septal defect (in 2 of 4 patients)

Skin Nails Hair Skin:
sensitive skin

Head And Neck Eyes:
hypertelorism
strabismus

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
bowel malrotation (in 2 of 4 patients)

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
coarse facies
long hypoplastic philtrum

Skeletal:
decreased bone density

Genitourinary Kidneys:
hemolytic-uremic syndrome requiring dialysis (1 patient)

Clinical features from OMIM:

616682

Drugs & Therapeutics for Seizures, Scoliosis, and Macrocephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Seizures, Scoliosis, and Macrocephaly Syndrome

Genetic Tests for Seizures, Scoliosis, and Macrocephaly Syndrome

Genetic tests related to Seizures, Scoliosis, and Macrocephaly Syndrome:

# Genetic test Affiliating Genes
1 Seizures, Scoliosis, and Macrocephaly Syndrome 30 EXT2

Anatomical Context for Seizures, Scoliosis, and Macrocephaly Syndrome

MalaCards organs/tissues related to Seizures, Scoliosis, and Macrocephaly Syndrome:

42
Skin, Brain

Publications for Seizures, Scoliosis, and Macrocephaly Syndrome

Articles related to Seizures, Scoliosis, and Macrocephaly Syndrome:

# Title Authors Year
1
An approach for liposome immobilization using sterically stabilized micelles (SSMs) as a precursor for bio-layer interferometry-based interaction studies. ( 28340485 )
2017
2
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. ( 26246518 )
2015
3
Solubilization of beclomethasone dipropionate in sterically stabilized phospholipid nanomicelles (SSMs): physicochemical and in vitro evaluations. ( 22393583 )
2012
4
Progress in multi-ion counting spark-source mass spectrometry (MIC-SSMS) for the analysis of geological samples. ( 11497000 )
2001

Variations for Seizures, Scoliosis, and Macrocephaly Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Scoliosis, and Macrocephaly Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 EXT2 p.Met87Arg VAR_076469 rs140075817
2 EXT2 p.Arg95Cys VAR_076470 rs376292686

ClinVar genetic disease variations for Seizures, Scoliosis, and Macrocephaly Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 EXT2 NM_207122.1(EXT2): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs121918279 GRCh37 Chromosome 11, 44129776: 44129776
2 EXT2 NM_207122.1(EXT2): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs121918279 GRCh38 Chromosome 11, 44108226: 44108226
3 EXT2 NM_000401.3(EXT2): c.2015C> T (p.Thr672Met) single nucleotide variant Uncertain significance rs138722406 GRCh37 Chromosome 11, 44255774: 44255774
4 EXT2 NM_000401.3(EXT2): c.2015C> T (p.Thr672Met) single nucleotide variant Uncertain significance rs138722406 GRCh38 Chromosome 11, 44234224: 44234224
5 EXT2 NM_207122.1(EXT2): c.260T> G (p.Met87Arg) single nucleotide variant Likely benign rs140075817 GRCh37 Chromosome 11, 44129522: 44129522
6 EXT2 NM_207122.1(EXT2): c.260T> G (p.Met87Arg) single nucleotide variant Likely benign rs140075817 GRCh38 Chromosome 11, 44107972: 44107972
7 EXT2 NM_207122.1(EXT2): c.1022C> T (p.Pro341Leu) single nucleotide variant Uncertain significance rs141035971 GRCh37 Chromosome 11, 44148448: 44148448
8 EXT2 NM_207122.1(EXT2): c.1022C> T (p.Pro341Leu) single nucleotide variant Uncertain significance rs141035971 GRCh38 Chromosome 11, 44126898: 44126898
9 EXT2 NM_000401.3(EXT2): c.382C> T (p.Arg128Cys) single nucleotide variant no interpretation for the single variant rs376292686 GRCh38 Chromosome 11, 44107995: 44107995
10 EXT2 NM_000401.3(EXT2): c.382C> T (p.Arg128Cys) single nucleotide variant no interpretation for the single variant rs376292686 GRCh37 Chromosome 11, 44129545: 44129545
11 EXT2 NM_207122.1(EXT2): c.11C> T (p.Ser4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs527624522 GRCh37 Chromosome 11, 44129273: 44129273
12 EXT2 NM_207122.1(EXT2): c.11C> T (p.Ser4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs527624522 GRCh38 Chromosome 11, 44107723: 44107723
13 EXT2 NM_000401.3(EXT2): c.1118T> A (p.Val373Asp) single nucleotide variant Uncertain significance rs371996957 GRCh38 Chromosome 11, 44126895: 44126895
14 EXT2 NM_000401.3(EXT2): c.1118T> A (p.Val373Asp) single nucleotide variant Uncertain significance rs371996957 GRCh37 Chromosome 11, 44148445: 44148445
15 EXT2 NM_207122.1(EXT2): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 44219466: 44219466
16 EXT2 NM_207122.1(EXT2): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 44197916: 44197916

Expression for Seizures, Scoliosis, and Macrocephaly Syndrome

Search GEO for disease gene expression data for Seizures, Scoliosis, and Macrocephaly Syndrome.

Pathways for Seizures, Scoliosis, and Macrocephaly Syndrome

GO Terms for Seizures, Scoliosis, and Macrocephaly Syndrome

Sources for Seizures, Scoliosis, and Macrocephaly Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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