SSMS
MCID: SZR028
MIFTS: 36

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 56
Seizures, Scoliosis, and Macrocephaly Syndrome 56 73 29 6 39
Seizures-Scoliosis-Macrocephaly Syndrome 58 73
Ssms 56 73
Ssm Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable age at onset of seizures


HPO:

31
seizures, scoliosis, and macrocephaly/microcephaly syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

OMIM : 56 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 patent ductus arteriosus and macrocephaly

UniProtKB/Swiss-Prot : 73 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 22)
# 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 10.1
10 multiple system atrophy 1 10.1
11 supranuclear palsy, progressive, 1 10.1
12 dermatitis, atopic 10.1
13 pulmonary disease, chronic obstructive 10.1
14 ptosis 10.1
15 nodular malignant melanoma 10.1
16 hepatitis c 10.1
17 hepatitis b 10.1
18 myopathy 10.1
19 aminoaciduria 10.1
20 lentigo maligna melanoma 10.1
21 splenomegaly 10.1
22 metabolic myopathy 10.1

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:

31 58 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 31 very rare (1%) HP:0001643
2 macrocephaly 58 31 Frequent (79-30%) HP:0000256
3 hypertelorism 58 31 Frequent (79-30%) HP:0000316
4 seizures 58 31 Very frequent (99-80%) HP:0001250
5 scoliosis 58 31 Frequent (79-30%) HP:0002650
6 constipation 58 31 Frequent (79-30%) HP:0002019
7 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
8 cryptorchidism 58 31 Frequent (79-30%) HP:0000028
9 microcephaly 58 31 Occasional (29-5%) HP:0000252
10 gastroesophageal reflux 58 31 Frequent (79-30%) HP:0002020
11 overlapping toe 58 31 Frequent (79-30%) HP:0001845
12 bulbous nose 58 31 Frequent (79-30%) HP:0000414
13 muscular hypotonia 58 Frequent (79-30%)
14 coarse facial features 31 HP:0000280
15 delayed speech and language development 58 Very frequent (99-80%)
16 pes planus 31 HP:0001763
17 feeding difficulties 31 HP:0011968
18 ventricular septal defect 31 HP:0001629
19 intellectual disability, moderate 58 Frequent (79-30%)
20 polyhydramnios 58 Occasional (29-5%)
21 stereotypy 31 HP:0000733
22 intellectual disability, mild 58 Frequent (79-30%)
23 intellectual disability, severe 58 Occasional (29-5%)
24 prominent forehead 58 Occasional (29-5%)
25 long philtrum 58 Frequent (79-30%)
26 exostoses 58 Occasional (29-5%)
27 generalized hypotonia 31 HP:0001290
28 strabismus 31 HP:0000486
29 reduced bone mineral density 58 Very frequent (99-80%)
30 autism 58 Frequent (79-30%)
31 atrial septal defect 58 Occasional (29-5%)
32 motor delay 31 HP:0001270
33 clinodactyly of the 5th finger 31 HP:0004209
34 poor speech 31 HP:0002465
35 high forehead 58 Occasional (29-5%)
36 abnormality of the kidney 58 Frequent (79-30%)
37 preauricular skin tag 31 HP:0000384
38 autistic behavior 31 HP:0000729
39 nail dysplasia 31 HP:0002164
40 sparse hair 31 HP:0008070
41 abnormality of cardiovascular system morphology 58 Frequent (79-30%)
42 abnormality of the skin 58 Frequent (79-30%)
43 nausea 58 Frequent (79-30%)
44 unsteady gait 31 HP:0002317
45 flat forehead 58 Occasional (29-5%)
46 broad-based gait 58 Frequent (79-30%)
47 abnormality of the outer ear 58 Frequent (79-30%)
48 hypoplastic philtrum 31 HP:0005326

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Central Nervous System:
seizures
unsteady gait
delayed psychomotor development
impaired intellectual development
poor or absent speech
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding
bowel malrotation (in some patients)

Skin Nails Hair Hair:
sparse hair

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
coarse facies
long hypoplastic philtrum

Head And Neck Ears:
preauricular tags

Head And Neck Nose:
bulbous nasal tip

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
stereotypic behavior
obsessive behavior

Skeletal:
decreased bone density (in most patients)
exostosis (in some patients)

Laboratory Abnormalities:
decreased heparan sulfate levels in blood and urine

Head And Neck Eyes:
hypertelorism
strabismus

Skeletal Spine:
scoliosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
flat feet
overlapping toes

Skeletal Hands:
fifth finger clinodactyly

Skin Nails Hair Nails:
dysplastic nails

Cardiovascular Heart:
ventricular septal defect (in some patients)
patent ductus arteriosus (in some patients)

Head And Neck Mouth:
gingival hypertrophy

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

Skin Nails Hair Skin:
sensitive skin

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

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

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

40
Bone, Skin, Breast, Brain, Kidney, Liver, Spleen

Publications for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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

(show top 50) (show all 261)
# Title Authors PMID Year
1
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. 56 6
30997052 2019
2
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). 56 6
30075207 2019
3
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 56 6
30288735 2019
4
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 56 6
26246518 2015
5
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 6
19344451 2009
6
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 6
9326317 1997
7
Intrinsic Measures and Shape Analysis of the Intratemporal Facial Nerve. 61
31917770 2020
8
Predicting real-time traffic conflicts using deep learning. 61
31931409 2020
9
Clinical relevance of augmented statistical shape model of the scapula in the glenoid region. 61
31902570 2020
10
Workload Differentiates Breast Surgical Procedures: NSM Associated with Higher Workload Demand than SSM. 61
31916090 2020
11
Suicide among persons who entered same-sex and opposite-sex marriage in Denmark and Sweden, 1989-2016: a binational, register-based cohort study. 61
31722984 2020
12
Hierarchical self-assembly of a PS-b-P4VP/PS-b-PNIPAM mixture into multicompartment micelles and their response to two-dimensional confinement. 61
31848533 2020
13
"I'll Just Pick It Up…": Women's Acceptability of Self-Sampling Methods for Sexually Transmitted Infection Screening. 61
31688722 2019
14
Medial axis segmentation of cranial nerves using shape statistics-aware discrete deformable models. 61
31236805 2019
15
A novel robust kernel principal component analysis for nonlinear statistical shape modeling from erroneous data. 61
31550670 2019
16
The "Nipple Whipple"?! A Pilot Study to Assess the Ergonomic Effects of Nipple-Sparing Mastectomy. 61
31342398 2019
17
PPR-SSM: personalized PageRank and semantic similarity measures for entity linking. 61
31664891 2019
18
Differences between pure desmoplastic melanoma and superficial spreading melanoma in terms of survival, distribution and other clinicopathologic features. 61
31237040 2019
19
Comparative anti-thrombotic activity and haemorrhagic adverse effect of nattokinase and tissue-type plasminogen activator. 61
31695953 2019
20
Dual-target hazard perception: Could identifying one hazard hinder a driver's capacity to find a second? 61
31319363 2019
21
Typical Shape Differences in the Subtalar Joint Bones Between Subjects with Chronic Ankle Instability and Controls. 61
31042001 2019
22
Assessing right-turning vehicle-pedestrian conflicts at intersections using an integrated microscopic simulation model. 61
31170560 2019
23
Level set distribution model of nested structures using logarithmic transformation. 61
31125739 2019
24
A Generic Approach to Lung Field Segmentation from Chest Radiographs using Deep Space and Shape Learning. 61
31425015 2019
25
Sexual Homicide in France. 61
30829093 2019
26
Multi-factor analysis in language production: Sequential sampling models mimic and extend regression results. 61
31076011 2019
27
Statistical shape-kinematics models of the skeletal joints: Application to the shoulder complex. 61
31946939 2019
28
Cholesterol-Induced Conformational Change in the Sphingomyelin Headgroup. 61
31303249 2019
29
Artificially enriching the training dataset of statistical shape models via constrained cage-based deformation. 61
31087232 2019
30
Posture normalisation of 3D body scans. 61
30777506 2019
31
Lymphatic Endothelial Cells Are Essential Components of the Subcapsular Sinus Macrophage Niche. 61
31053503 2019
32
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. 61
30807934 2019
33
Ischemia time impacts on respiratory chain functions and Ca2+-handling of cardiac subsarcolemmal mitochondria subjected to ischemia reperfusion injury. 61
31088484 2019
34
Why off-the-shelf clavicle plates rarely fit: anatomic analysis of the clavicle through statistical shape modeling. 61
30609957 2019
35
Network screening for large urban road networks: Using GPS data and surrogate measures to model crash frequency and severity. 61
30818096 2019
36
Use of real-world connected vehicle data in identifying high-risk locations based on a new surrogate safety measure. 61
29983165 2019
37
The morphology of the human mandible: A computational modelling study. 61
30826909 2019
38
Self-Assessments of Standardized Scalp Massages for Androgenic Alopecia: Survey Results. 61
30671883 2019
39
Evaluating consumptive and nonconsumptive predator effects on prey density using field time-series data. 61
30565223 2019
40
Automated segmentation of knee bone and cartilage combining statistical shape knowledge and convolutional neural networks: Data from the Osteoarthritis Initiative. 61
30529224 2019
41
Statistical Shape Models: Understanding and Mastering Variation in Anatomy. 61
31338778 2019
42
Handling Big Data Scalability in Biological Domain Using Parallel and Distributed Processing: A Case of Three Biological Semantic Similarity Measures. 61
30809545 2019
43
Morphological analysis of sigmoid sinus anatomy: clinical applications to neurotological surgery. 61
30635049 2019
44
Statistical Shape Modeling of Skeletal Anatomy for Sex Discrimination: Their Training Size, Sexual Dimorphism, and Asymmetry. 61
31737620 2019
45
Products of Early and Advanced Glycation in the Soy Milk Proteome. 61
30430721 2019
46
Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers. 61
30218143 2018
47
Surrogate safety and network screening: Modelling crash frequency using GPS travel data and latent Gaussian Spatial Models. 61
30142497 2018
48
How many squat-stand manoeuvres to assess dynamic cerebral autoregulation? 61
30128850 2018
49
Size Matters: Package Size Influences Recognition of Serving Size Information. 61
30014723 2018
50
[Reliability and repeatability analysis of simplified skeletal maturity scoring and thumb ossification composite index in the assessment of skeletal maturity inadolescent idiopathic scoliosis]. 61
30481895 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EXT2 NM_000401.3(EXT2):c.613C>T (p.Gln205Ter)SNV Pathogenic 2472 rs121918279 11:44129776-44129776 11:44108226-44108226
2 EXT2 NM_000401.3(EXT2):c.778G>A (p.Asp260Asn)SNV Pathogenic 2474 rs121918280 11:44135787-44135787 11:44114237-44114237
3 EXT2 NM_000401.3(EXT2):c.1922A>G (p.Tyr641Cys)SNV Pathogenic 638619 11:44255681-44255681 11:44234131-44234131
4 EXT2 NM_000401.3(EXT2):c.359T>G (p.Met120Arg)SNV Conflicting interpretations of pathogenicity 134211 rs140075817 11:44129522-44129522 11:44107972-44107972
5 EXT2 NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln)SNV Conflicting interpretations of pathogenicity 134218 rs138187791 11:44193165-44193165 11:44171615-44171615
6 EXT2 NM_000401.3(EXT2):c.110C>T (p.Ser37Leu)SNV Conflicting interpretations of pathogenicity 304572 rs527624522 11:44129273-44129273 11:44107723-44107723
7 EXT2 NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter)SNV Conflicting interpretations of pathogenicity 580003 rs772690312 11:44219466-44219466 11:44197916-44197916
8 EXT2 NM_000401.3(EXT2):c.670A>G (p.Met224Val)SNV Uncertain significance 638379 11:44130778-44130778 11:44109228-44109228
9 EXT2 NM_000401.3(EXT2):c.1118T>A (p.Val373Asp)SNV Uncertain significance 547989 rs371996957 11:44148445-44148445 11:44126895-44126895
10 EXT2 NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu)SNV Uncertain significance 134215 rs141035971 11:44148448-44148448 11:44126898-44126898
11 EXT2 NM_000401.3(EXT2):c.2015C>T (p.Thr672Met)SNV Uncertain significance 134205 rs138722406 11:44255774-44255774 11:44234224-44234224
12 EXT2 NM_000401.3(EXT2):c.382C>T (p.Arg128Cys)SNV no interpretation for the single variant 242448 rs376292686 11:44129545-44129545 11:44107995-44107995

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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