SPATCCM
MCID: SPS190
MIFTS: 30

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 57 20 72 36 29 6
Spatccm 57 20 72
Spastic Quadriplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 20 58
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 20 58
Asct1 Deficiency 20 58
Tetraplegia, Spastic, Thin Corpus Callosum, and Progressive Microcephaly 39

Characteristics:

Orphanet epidemiological data:

58
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spastic tetraplegia, thin corpus callosum, and progressive microcephaly:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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) (Updated 20-May-2021)

MalaCards based summary : Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly, also known as spatccm, is related to microcephaly and quadriplegia. 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 intellectual disability and delayed speech and language development

KEGG : 36 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive neurodevelopmental disorder of childhood. Mutations in SLC1A4, encoding the brain serine transporter, are associated with this syndrome. L-serine plays an essential role in neuronal development and function.

UniProtKB/Swiss-Prot : 72 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 microcephaly 10.4
2 quadriplegia 10.4
3 erythema infectiosum 10.4
4 seizure disorder 10.4

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

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

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
5 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
6 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
7 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
8 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
9 congenital microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0011451
10 hypotonia 31 frequent (33%) HP:0001252
11 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
12 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
13 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
14 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
15 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
16 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
17 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
18 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
19 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
20 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
21 multiple joint contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002828
22 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
23 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
24 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
25 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
26 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
27 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
28 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
29 hair-pulling 58 31 occasional (7.5%) Occasional (29-5%) HP:0012167
30 cerebral hypomyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0006808
31 myoclonic spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0003739
32 seizure 31 occasional (7.5%) HP:0001250
33 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
34 hyperreflexia 58 31 Very frequent (99-80%) HP:0001347
35 muscular hypotonia 58 Frequent (79-30%)
36 global developmental delay 31 HP:0001263
37 hypertonia 58 Frequent (79-30%)
38 spastic tetraplegia 31 HP:0002510
39 absent speech 31 HP:0001344
40 babinski sign 31 HP:0003487
41 generalized tonic-clonic seizures 58 Occasional (29-5%)
42 cerebral atrophy 31 HP:0002059
43 generalized hypotonia 31 HP:0001290
44 inability to walk 31 HP:0002540
45 progressive microcephaly 31 HP:0000253

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
hyperreflexia
spastic tetraplegia
cerebral atrophy
inability to walk
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 (Updated 20-May-2021)

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...

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

40
Brain

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

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

# Title Authors PMID Year
1
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. 6 57
29989513 2018
2
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. 6 57
27193218 2016
3
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. 6 57
26138499 2015
4
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. 57 6
26041762 2015
5
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. 57 6
25930971 2015
6
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder. 61
31763347 2019

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

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC1A4 NM_003038.5(SLC1A4):c.1358G>A (p.Trp453Ter) SNV Pathogenic 932143 GRCh37: 2:65245807-65245807
GRCh38: 2:65018673-65018673
2 SLC1A4 NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg) SNV Pathogenic 932144 GRCh37: 2:65245311-65245311
GRCh38: 2:65018177-65018177
3 SLC1A4 NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys) SNV Pathogenic 265259 rs201278558 GRCh37: 2:65237863-65237863
GRCh38: 2:65010729-65010729
4 SLC1A4 NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) SNV Pathogenic 372158 rs761533681 GRCh37: 2:65248050-65248050
GRCh38: 2:65020916-65020916
5 SLC1A4 NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter) SNV Pathogenic 436740 rs200617042 GRCh37: 2:65248201-65248201
GRCh38: 2:65021067-65021067
6 SLC1A4 NM_003038.5(SLC1A4):c.1277_1278insCC (p.Gly427fs) Insertion Pathogenic 1032106 GRCh37: 2:65245726-65245727
GRCh38: 2:65018592-65018593
7 SLC1A4 NM_003038.5(SLC1A4):c.1281_1284del (p.Val428fs) Deletion Pathogenic 1032107 GRCh37: 2:65245730-65245733
GRCh38: 2:65018596-65018599
8 SLC1A4 NM_003038.5(SLC1A4):c.1365-2A>G SNV Pathogenic 1032108 GRCh37: 2:65248044-65248044
GRCh38: 2:65020910-65020910
9 SLC1A4 NM_003038.5(SLC1A4):c.944_945del (p.Leu315fs) Deletion Pathogenic 372157 rs1057517664 GRCh37: 2:65243717-65243718
GRCh38: 2:65016583-65016584
10 SLC1A4 NM_003038.5(SLC1A4):c.1364+1G>A SNV Pathogenic 587615 rs1558529034 GRCh37: 2:65245814-65245814
GRCh38: 2:65018680-65018680
11 SLC1A4 NM_003038.5(SLC1A4):c.1035-381_1230-73del Deletion Pathogenic 488671 rs1553375174 GRCh37: 2:65244824-65245606
GRCh38: 2:65017690-65018472
12 SLC1A4 NM_003038.5(SLC1A4):c.1357T>C (p.Trp453Arg) SNV Likely pathogenic 800961 rs1572971860 GRCh37: 2:65245806-65245806
GRCh38: 2:65018672-65018672
13 SLC1A4 NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro) SNV Likely pathogenic 801718 rs1037527372 GRCh37: 2:65217049-65217049
GRCh38: 2:64989915-64989915
14 SLC1A4 NM_003038.5(SLC1A4):c.1316G>A (p.Gly439Glu) SNV Uncertain significance 587616 rs144796570 GRCh37: 2:65245765-65245765
GRCh38: 2:65018631-65018631

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

72
# Symbol AA change Variation ID SNP ID
1 SLC1A4 p.Glu256Lys VAR_075085 rs201278558
2 SLC1A4 p.Arg457Trp VAR_075086 rs761533681

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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