SPATCCM
MCID: SPS190
MIFTS: 24

Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)

Categories: Genetic diseases, Metabolic diseases, Neuronal 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 58 76 38 30 6
Spatccm 58 76
Spastic Quadriplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 60
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 60
Tetraplegia, Spastic, Thin Corpus Callosum, and Progressive Microcephaly 41
Asct1 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 58 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). Affiliated tissues include brain, and related phenotypes are seizures and intellectual disability

UniProtKB/Swiss-Prot : 76 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 11.7

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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 intellectual disability 33 HP:0001249
3 hyperreflexia 33 HP:0001347
4 global developmental delay 33 HP:0001263
5 spastic tetraplegia 33 HP:0002510
6 irritability 33 HP:0000737
7 absent speech 33 HP:0001344
8 babinski sign 33 HP:0003487
9 inability to walk 33 HP:0002540
10 generalized hypotonia 33 HP:0001290
11 hypoplasia of the corpus callosum 33 HP:0002079
12 hyperactivity 33 HP:0000752
13 cerebral atrophy 33 HP:0002059
14 progressive microcephaly 33 HP:0000253

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SLC1A4

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

MalaCards organs/tissues related to Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly:

42
Brain

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

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

# Title Authors Year
1
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. ( 25930971 )
2015
2
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. ( 26041762 )
2015
3
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. ( 26138499 )
2015

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

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

76
# 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 (show all 12)
# 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 rs1553375174 GRCh38 Chromosome 2, 65017690: 65018472
8 SLC1A4 NG_053002.1: g.34246_35028del783 deletion Pathogenic rs1553375174 GRCh37 Chromosome 2, 65244824: 65245606
9 SLC1A4 NM_003038.4(SLC1A4): c.1316G> A (p.Gly439Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 65018631: 65018631
10 SLC1A4 NM_003038.4(SLC1A4): c.1316G> A (p.Gly439Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 65245765: 65245765
11 SLC1A4 NM_003038.4(SLC1A4): c.1364+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 2, 65018680: 65018680
12 SLC1A4 NM_003038.4(SLC1A4): c.1364+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 2, 65245814: 65245814

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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