MCID: SPS190
MIFTS: 21

Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly

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

Aliases & Classifications for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

MalaCards integrated aliases for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly:

Name: Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 57 75 29 6
Spatccm 57 75
Spastic Quadriplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 59
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 59
Tetraplegia, Spastic, Thin Corpus Callosum, and Progressive Microcephaly 40
Asct1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
increased frequency among individuals of ashkenazi jewish descent


HPO:

32
spastic tetraplegia, thin corpus callosum, and progressive microcephaly:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

OMIM : 57 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015). (616657)

MalaCards based summary : Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly, also known as spatccm, is related to spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome. An important gene associated with Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly is SLC1A4 (Solute Carrier Family 1 Member 4). Related phenotypes are progressive microcephaly and irritability

UniProtKB/Swiss-Prot : 75 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly: A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech.

Related Diseases for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Diseases related to Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 11.5

Symptoms & Phenotypes for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
hyperreflexia
spastic tetraplegia
inability to walk
cerebral atrophy
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
irritability
hyperactivity
stereotypical behaviors

Head And Neck Head:
microcephaly, postnatal, progressive (up to -4sd)


Clinical features from OMIM:

616657

Human phenotypes related to Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 irritability 32 HP:0000737
3 hyperactivity 32 HP:0000752
4 intellectual disability 32 HP:0001249
5 seizures 32 occasional (7.5%) HP:0001250
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 hyperreflexia 32 HP:0001347
9 cerebral atrophy 32 HP:0002059
10 hypoplasia of the corpus callosum 32 HP:0002079
11 spastic tetraplegia 32 HP:0002510
12 inability to walk 32 HP:0002540
13 babinski sign 32 HP:0003487

Drugs & Therapeutics for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Search Clinical Trials , NIH Clinical Center for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly

Genetic Tests for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Genetic tests related to Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly:

# Genetic test Affiliating Genes
1 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 29 SLC1A4

Anatomical Context for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Publications for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Variations for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

UniProtKB/Swiss-Prot genetic disease variations for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly:

75
# Symbol AA change Variation ID SNP ID
1 SLC1A4 p.Glu256Lys VAR_075085 rs201278558
2 SLC1A4 p.Arg457Trp VAR_075086 rs761533681

ClinVar genetic disease variations for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC1A4 NM_003038.4(SLC1A4): c.766G> A (p.Glu256Lys) single nucleotide variant Pathogenic rs201278558 GRCh37 Chromosome 2, 65237863: 65237863
2 SLC1A4 NM_003038.4(SLC1A4): c.766G> A (p.Glu256Lys) single nucleotide variant Pathogenic rs201278558 GRCh38 Chromosome 2, 65010729: 65010729
3 SLC1A4 NM_003038.4(SLC1A4): c.944_945delTT (p.Leu315Hisfs) deletion Pathogenic rs1057517664 GRCh37 Chromosome 2, 65243717: 65243718
4 SLC1A4 NM_003038.4(SLC1A4): c.944_945delTT (p.Leu315Hisfs) deletion Pathogenic rs1057517664 GRCh38 Chromosome 2, 65016583: 65016584
5 SLC1A4 NM_003038.4(SLC1A4): c.1369C> T (p.Arg457Trp) single nucleotide variant Pathogenic/Likely pathogenic rs761533681 GRCh37 Chromosome 2, 65248050: 65248050
6 SLC1A4 NM_003038.4(SLC1A4): c.1369C> T (p.Arg457Trp) single nucleotide variant Pathogenic/Likely pathogenic rs761533681 GRCh38 Chromosome 2, 65020916: 65020916
7 SLC1A4 NG_053002.1: g.34246_35028del783 deletion Pathogenic GRCh38 Chromosome 2, 65017690: 65018472
8 SLC1A4 NG_053002.1: g.34246_35028del783 deletion Pathogenic GRCh37 Chromosome 2, 65244824: 65245606

Expression for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Search GEO for disease gene expression data for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly.

Pathways for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

GO Terms for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

Sources for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive...

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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