SSMS
MCID: SZR028
MIFTS: 34

Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome (SSMS)

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

Aliases & Classifications for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

Name: Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome 57
Seizures, Scoliosis, and Macrocephaly Syndrome 57 74 29 6 40
Seizures-Scoliosis-Macrocephaly Syndrome 59 74
Ssms 57 74
Ssm Syndrome 59

Characteristics:

OMIM:

57
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:

32
seizures, scoliosis, and macrocephaly/microcephaly syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 616682
MeSH 44 D000015
Orphanet 59 ORPHA466926

Summaries for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

OMIM : 57 Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019). (616682)

MalaCards based summary : Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome, also known as seizures, scoliosis, and macrocephaly syndrome, is related to superficial spreading melanoma and atrial standstill 1. An important gene associated with Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone, skin and breast, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 74 Seizures, scoliosis, and macrocephaly syndrome: An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.

Related Diseases for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 superficial spreading melanoma 11.6
2 atrial standstill 1 10.4
3 galactosemia 10.3
4 lentigines 10.2
5 alstrom syndrome 10.2
6 melanoma 10.2
7 cataract 10.2
8 hypertrophic cardiomyopathy 10.2
9 hepatocellular carcinoma 10.0
10 multiple system atrophy 1 10.0
11 supranuclear palsy, progressive, 1 10.0
12 dermatitis, atopic 10.0
13 pulmonary disease, chronic obstructive 10.0
14 ptosis 10.0
15 nodular malignant melanoma 10.0
16 hepatitis c 10.0
17 hepatitis b 10.0
18 dermatitis 10.0
19 myopathy 10.0
20 aminoaciduria 10.0
21 lentigo maligna melanoma 10.0
22 splenomegaly 10.0
23 metabolic myopathy 10.0

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



Diseases related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

Symptoms & Phenotypes for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 seizures 32 HP:0001250
4 constipation 32 HP:0002019
5 scoliosis 32 HP:0002650
6 coarse facial features 32 HP:0000280
7 global developmental delay 32 HP:0001263
8 gastroesophageal reflux 32 HP:0002020
9 generalized hypotonia 32 HP:0001290
10 strabismus 32 HP:0000486
11 cryptorchidism 32 HP:0000028
12 ventricular septal defect 32 HP:0001629
13 poor speech 32 HP:0002465
14 overlapping toe 32 HP:0001845
15 hypoplastic philtrum 32 HP:0005326

Symptoms via clinical synopsis from OMIM:

57
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/microcephaly Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Assessment of Cerebral Haemodynamics in Patients With Transient Ischaemic Attack: A Transcranial Doppler Study Not yet recruiting NCT03886129

Search NIH Clinical Center for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

Genetic Tests for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

# Genetic test Affiliating Genes
1 Seizures, Scoliosis, and Macrocephaly Syndrome 29 EXT2

Anatomical Context for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

41
Bone, Skin, Breast, Brain, Liver, Heart, Spleen

Publications for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

Articles related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

(show top 50) (show all 247)
# Title Authors PMID Year
1
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 8 71
26246518 2015
2
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. 8
30997052 2019
3
A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2). 8
30075207 2019
4
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 8
30288735 2019
5
Dual-target hazard perception: Could identifying one hazard hinder a driver's capacity to find a second? 38
31319363 2019
6
Typical Shape Differences in the Subtalar Joint Bones Between Subjects with Chronic Ankle Instability and Controls. 38
31042001 2019
7
Assessing right-turning vehicle-pedestrian conflicts at intersections using an integrated microscopic simulation model. 38
31170560 2019
8
Level set distribution model of nested structures using logarithmic transformation. 38
31125739 2019
9
A Generic Approach to Lung Field Segmentation from Chest Radiographs using Deep Space and Shape Learning. 38
31425015 2019
10
Sexual Homicide in France. 38
30829093 2019
11
The "Nipple Whipple"?! A Pilot Study to Assess the Ergonomic Effects of Nipple-Sparing Mastectomy. 38
31342398 2019
12
Cholesterol-Induced Conformational Change in the Sphingomyelin Headgroup. 38
31303249 2019
13
Medial axis segmentation of cranial nerves using shape statistics-aware discrete deformable models. 38
31236805 2019
14
Artificially enriching the training dataset of statistical shape models via constrained cage-based deformation. 38
31087232 2019
15
Posture normalisation of 3D body scans. 38
30777506 2019
16
Differences between pure desmoplastic melanoma and superficial spreading melanoma in terms of survival, distribution and other clinicopathologic features. 38
31237040 2019
17
Lymphatic Endothelial Cells Are Essential Components of the Subcapsular Sinus Macrophage Niche. 38
31053503 2019
18
Multi-factor analysis in language production: Sequential sampling models mimic and extend regression results. 38
31076011 2019
19
Ischemia time impacts on respiratory chain functions and Ca2+-handling of cardiac subsarcolemmal mitochondria subjected to ischemia reperfusion injury. 38
31088484 2019
20
Design, synthesis, and cytotoxicity screening of 5-aryl-3-(2-(pyrrolyl) thiophenyl)-1, 2, 4-oxadiazoles as potential antitumor molecules on breast cancer MCF-7 cells. 38
30807934 2019
21
Use of real-world connected vehicle data in identifying high-risk locations based on a new surrogate safety measure. 38
29983165 2019
22
Network screening for large urban road networks: Using GPS data and surrogate measures to model crash frequency and severity. 38
30818096 2019
23
Why off-the-shelf clavicle plates rarely fit: anatomic analysis of the clavicle through statistical shape modeling. 38
30609957 2019
24
The morphology of the human mandible: A computational modelling study. 38
30826909 2019
25
Self-Assessments of Standardized Scalp Massages for Androgenic Alopecia: Survey Results. 38
30671883 2019
26
Evaluating consumptive and nonconsumptive predator effects on prey density using field time-series data. 38
30565223 2019
27
Automated segmentation of knee bone and cartilage combining statistical shape knowledge and convolutional neural networks: Data from the Osteoarthritis Initiative. 38
30529224 2019
28
Statistical Shape Models: Understanding and Mastering Variation in Anatomy. 38
31338778 2019
29
Handling Big Data Scalability in Biological Domain Using Parallel and Distributed Processing: A Case of Three Biological Semantic Similarity Measures. 38
30809545 2019
30
Morphological analysis of sigmoid sinus anatomy: clinical applications to neurotological surgery. 38
30635049 2019
31
Products of Early and Advanced Glycation in the Soy Milk Proteome. 38
30430721 2019
32
Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers. 38
30218143 2018
33
How many squat-stand manoeuvres to assess dynamic cerebral autoregulation? 38
30128850 2018
34
Surrogate safety and network screening: Modelling crash frequency using GPS travel data and latent Gaussian Spatial Models. 38
30142497 2018
35
Size Matters: Package Size Influences Recognition of Serving Size Information. 38
30014723 2018
36
[Reliability and repeatability analysis of simplified skeletal maturity scoring and thumb ossification composite index in the assessment of skeletal maturity inadolescent idiopathic scoliosis]. 38
30481895 2018
37
Molecular Insights into the Unusual Structure of an Antifreeze Protein with a Hydrated Core. 38
30286600 2018
38
Sphingomyelin Stereoisomers Reveal That Homophilic Interactions Cause Nanodomain Formation. 38
30274830 2018
39
Transient Elastography Measurements of Spleen Stiffness as a Predictor of Clinically Significant Varices in Children. 38
30234702 2018
40
Spleen stiffness mirrors changes in portal hypertension after successful interferon-free therapy in chronic-hepatitis C virus patients. 38
30386466 2018
41
A Comparative Study of Phosphatidylcholine versus Phosphatidylserine-Based Solid Supported Membranes for the Preparation of Liposome-Rich Interfaces. 38
30217106 2018
42
Visual prognosis in compressive optic neuropathy secondary to sphenoid sinus mucocele: A systematic review. 38
29303386 2018
43
Validation Study of the Thumb Ossification Composite Index (TOCI) in Idiopathic Scoliosis: A Stage-to-Stage Correlation with Classic Tanner-Whitehouse and Sanders Simplified Skeletal Maturity Systems. 38
29975274 2018
44
Acidic leaching of potentially toxic metals cadmium, cobalt, chromium, copper, nickel, lead, and zinc from two Zn smelting slag materials incubated in an acidic soil. 38
29574360 2018
45
High density of M2-macrophages in acral lentiginous melanoma compared to superficial spreading melanoma. 38
29415335 2018
46
Preservation of the nipple-areola complex in skin-sparing mastectomy for early breast cancer. 38
29468434 2018
47
Vehicle manoeuvers as surrogate safety measures: Extracting data from the gps-enabled smartphones of regular drivers. 38
29574309 2018
48
Double-Sided Mechanical Shocks Provoke Larger Seated Postural Reactions Compared With Single-Sided Mechanical Shocks. 38
28858181 2018
49
The effects of subcurative praziquantel treatment on life-history traits and trade-offs in drug-resistant Schistosoma mansoni. 38
29636801 2018
50
More is better: Relative prevalence of multiple targets affects search accuracy. 38
29614156 2018

Variations for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EXT2 NM_000401.3(EXT2): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs121918279 11:44129776-44129776 11:44108226-44108226
2 EXT2 NM_000401.3(EXT2): c.778G> A (p.Asp260Asn) single nucleotide variant Pathogenic rs121918280 11:44135787-44135787 11:44114237-44114237
3 EXT2 NM_000401.3(EXT2): c.1922A> G (p.Tyr641Cys) single nucleotide variant Pathogenic 11:44255681-44255681 11:44234131-44234131
4 EXT2 NM_000401.3(EXT2): c.110C> T (p.Ser37Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs527624522 11:44129273-44129273 11:44107723-44107723
5 EXT2 NM_000401.3(EXT2): c.1492C> T (p.Arg498Ter) single nucleotide variant Conflicting interpretations of pathogenicity 11:44219466-44219466 11:44197916-44197916
6 EXT2 NM_000401.3(EXT2): c.1277G> A (p.Arg426Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138187791 11:44193165-44193165 11:44171615-44171615
7 EXT2 NM_000401.3(EXT2): c.1118T> A (p.Val373Asp) single nucleotide variant Uncertain significance rs371996957 11:44148445-44148445 11:44126895-44126895
8 EXT2 NM_000401.3(EXT2): c.1121C> T (p.Pro374Leu) single nucleotide variant Uncertain significance rs141035971 11:44148448-44148448 11:44126898-44126898
9 EXT2 NM_000401.3(EXT2): c.2015C> T (p.Thr672Met) single nucleotide variant Uncertain significance rs138722406 11:44255774-44255774 11:44234224-44234224
10 EXT2 NM_000401.3(EXT2): c.670A> G (p.Met224Val) single nucleotide variant Uncertain significance 11:44130778-44130778 11:44109228-44109228
11 EXT2 NM_000401.3(EXT2): c.359T> G (p.Met120Arg) single nucleotide variant Likely benign rs140075817 11:44129522-44129522 11:44107972-44107972
12 EXT2 NM_000401.3(EXT2): c.382C> T (p.Arg128Cys) single nucleotide variant no interpretation for the single variant rs376292686 11:44129545-44129545 11:44107995-44107995

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

74
# Symbol AA change Variation ID SNP ID
1 EXT2 p.Met87Arg VAR_076469 rs140075817
2 EXT2 p.Arg95Cys VAR_076470 rs376292686

Expression for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

Pathways for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

GO Terms for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

Sources for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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