MCID: MCR333
MIFTS: 18

Microcephaly, Seizures, Spasticity, and Brain Calcifications

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Microcephaly, Seizures, Spasticity, and Brain Calcifications

MalaCards integrated aliases for Microcephaly, Seizures, Spasticity, and Brain Calcifications:

Name: Microcephaly, Seizures, Spasticity, and Brain Calcifications 57 75
Missbc 57 75
Microcephaly, Seizures, Spasticity, and Brain Calcification 57
Microcephaly with Spastic Quadriplegia 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
microcephaly, seizures, spasticity, and brain calcifications:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Microcephaly, Seizures, Spasticity, and Brain Calcifications

OMIM : 57 MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016). (251280)

MalaCards based summary : Microcephaly, Seizures, Spasticity, and Brain Calcifications, also known as missbc, is related to microcephaly with spastic quadriplegia. An important gene associated with Microcephaly, Seizures, Spasticity, and Brain Calcifications is PCDH12 (Protocadherin 12). Affiliated tissues include brain and hypothalamus, and related phenotypes are global developmental delay and microcephaly

UniProtKB/Swiss-Prot : 75 Microcephaly, seizures, spasticity, and brain calcifications: An autosomal recessive syndrome characterized by congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and severe global developmental delay with profound intellectual disability, spasticity or dystonia. Brain imaging shows intracerebral calcifications.

Related Diseases for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Diseases related to Microcephaly, Seizures, Spasticity, and Brain Calcifications via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly with spastic quadriplegia 12.3

Symptoms & Phenotypes for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
intrauterine growth retardation (iugr)

Head And Neck Eyes:
visual impairment, severe

Head And Neck Head:
microcephaly, progressive (up to -7.5 sd)

Neurologic Central Nervous System:
delayed psychomotor development, profound
intellectual disability, profound
early-onset seizures
axial hypotonia
spastic quadriplegia
more

Clinical features from OMIM:

251280

Human phenotypes related to Microcephaly, Seizures, Spasticity, and Brain Calcifications:

32
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 microcephaly 32 HP:0000252
3 spastic tetraplegia 32 HP:0002510
4 generalized myoclonic seizures 32 HP:0002123
5 postnatal microcephaly 32 HP:0005484

Drugs & Therapeutics for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Search Clinical Trials , NIH Clinical Center for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Genetic Tests for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Anatomical Context for Microcephaly, Seizures, Spasticity, and Brain Calcifications

MalaCards organs/tissues related to Microcephaly, Seizures, Spasticity, and Brain Calcifications:

41
Brain, Hypothalamus

Publications for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Variations for Microcephaly, Seizures, Spasticity, and Brain Calcifications

ClinVar genetic disease variations for Microcephaly, Seizures, Spasticity, and Brain Calcifications:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH12 NM_016580.3(PCDH12): c.2515C> T (p.Arg839Ter) single nucleotide variant Pathogenic rs375346212 GRCh37 Chromosome 5, 141334902: 141334902
2 PCDH12 NM_016580.3(PCDH12): c.2515C> T (p.Arg839Ter) single nucleotide variant Pathogenic rs375346212 GRCh38 Chromosome 5, 141955337: 141955337

Expression for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Search GEO for disease gene expression data for Microcephaly, Seizures, Spasticity, and Brain Calcifications.

Pathways for Microcephaly, Seizures, Spasticity, and Brain Calcifications

GO Terms for Microcephaly, Seizures, Spasticity, and Brain Calcifications

Sources for Microcephaly, Seizures, Spasticity, and Brain Calcifications

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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