MCID: MCR123
MIFTS: 20

Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Microcephaly, Postnatal Progressive, with Seizures and Brain...

MalaCards integrated aliases for Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy:

Name: Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 57 75 29 13 6 40
Infantile Cerebral and Cerebellar Atrophy with Postnatal Progressive Microcephaly 53 59
Postnatal Progressive Microcephaly, Seizures, and Brain Atrophy 53
Mcphsba 75

Characteristics:

Orphanet epidemiological data:

59
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at 4 to 9 weeks of age
patients are born with normal head circumference
has been described in patients of caucasus jewish origin


HPO:

32
microcephaly, postnatal progressive, with seizures and brain atrophy:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly, Postnatal Progressive, with Seizures and Brain...

UniProtKB/Swiss-Prot : 75 Microcephaly, postnatal progressive, with seizures and brain atrophy: A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth.

MalaCards based summary : Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy, is also known as infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly. An important gene associated with Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy is MED17 (Mediator Complex Subunit 17). Affiliated tissues include brain, and related phenotypes are progressive microcephaly and seizures

Description from OMIM: 613668

Related Diseases for Microcephaly, Postnatal Progressive, with Seizures and Brain...

Symptoms & Phenotypes for Microcephaly, Postnatal Progressive, with Seizures and Brain...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
clonus
hypsarrhythmia
more
Abdomen Gastrointestinal:
poor feeding
swallowing difficulties

Head And Neck Head:
microcephaly, postnatal, progressive

Growth Other:
failure to thrive

Head And Neck Eyes:
poor visual fixation
lack of visual tracking


Clinical features from OMIM:

613668

Human phenotypes related to Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 global developmental delay 32 HP:0001263
5 failure to thrive 32 HP:0001508
6 dysphagia 32 HP:0002015
7 clonus 32 HP:0002169
8 diffuse cerebral atrophy 32 HP:0002506
9 hypsarrhythmia 32 HP:0002521
10 postnatal microcephaly 32 HP:0005484
11 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Microcephaly, Postnatal Progressive, with Seizures and Brain...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy

Genetic Tests for Microcephaly, Postnatal Progressive, with Seizures and Brain...

Genetic tests related to Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy:

# Genetic test Affiliating Genes
1 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 29 MED17

Anatomical Context for Microcephaly, Postnatal Progressive, with Seizures and Brain...

MalaCards organs/tissues related to Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy:

41
Brain

Publications for Microcephaly, Postnatal Progressive, with Seizures and Brain...

Variations for Microcephaly, Postnatal Progressive, with Seizures and Brain...

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy:

75
# Symbol AA change Variation ID SNP ID
1 MED17 p.Leu371Pro VAR_065066 rs267607232

ClinVar genetic disease variations for Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED17 NM_004268.4(MED17): c.1112T> C (p.Leu371Pro) single nucleotide variant Pathogenic rs267607232 GRCh37 Chromosome 11, 93529675: 93529675
2 MED17 NM_004268.4(MED17): c.1112T> C (p.Leu371Pro) single nucleotide variant Pathogenic rs267607232 GRCh38 Chromosome 11, 93796509: 93796509
3 MED17 NM_004268.4(MED17): c.571C> T (p.Arg191Trp) single nucleotide variant Likely pathogenic rs587780394 GRCh37 Chromosome 11, 93523893: 93523893
4 MED17 NM_004268.4(MED17): c.571C> T (p.Arg191Trp) single nucleotide variant Likely pathogenic rs587780394 GRCh38 Chromosome 11, 93790727: 93790727
5 MED17 NM_004268.4(MED17): c.859+18T> C single nucleotide variant Benign rs657177 GRCh37 Chromosome 11, 93527219: 93527219
6 MED17 NM_004268.4(MED17): c.859+18T> C single nucleotide variant Benign rs657177 GRCh38 Chromosome 11, 93794053: 93794053
7 MED17 NM_004268.4(MED17): c.1329-11G> A single nucleotide variant Benign rs655699 GRCh37 Chromosome 11, 93534990: 93534990
8 MED17 NM_004268.4(MED17): c.1329-11G> A single nucleotide variant Benign rs655699 GRCh38 Chromosome 11, 93801824: 93801824
9 MED17 NM_004268.4(MED17): c.1898G> A (p.Arg633Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 93812006: 93812006
10 MED17 NM_004268.4(MED17): c.1898G> A (p.Arg633Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 93545172: 93545172

Expression for Microcephaly, Postnatal Progressive, with Seizures and Brain...

Search GEO for disease gene expression data for Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy.

Pathways for Microcephaly, Postnatal Progressive, with Seizures and Brain...

GO Terms for Microcephaly, Postnatal Progressive, with Seizures and Brain...

Sources for Microcephaly, Postnatal Progressive, with Seizures and Brain...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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