MCID: SZR018
MIFTS: 24

Seizures, Scoliosis, and Macrocephaly Syndrome

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 57 75 29 6 40
Seizures-Scoliosis-Macrocephaly Syndrome 59 75
Ssms 57 75
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 syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seizures, Scoliosis, and Macrocephaly Syndrome

UniProtKB/Swiss-Prot : 75 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, brain and bone, and related phenotypes are cryptorchidism and macrocephaly

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:

# Related Disease Score Top Affiliating Genes
1 superficial spreading melanoma 11.3
2 melanoma 10.2
3 galactosemia 9.9
4 hepatitis 9.9
5 hepatitis b 9.9

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

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)

GenitourinaryInternal GenitaliaMale:
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

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

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

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 29 EXT2

Anatomical Context for Seizures, Scoliosis, and Macrocephaly Syndrome

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

41
Skin, Brain, Bone

Publications for Seizures, Scoliosis, and Macrocephaly Syndrome

Variations for Seizures, Scoliosis, and Macrocephaly Syndrome

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 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
2 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

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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