MCID: PRN057
MIFTS: 15

Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

MalaCards integrated aliases for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations:

Name: Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 56
Porencephaly-Cerebellar Hypoplasia-Internal Malformations Syndrome 58
Porencephaly Cerebellar Hypoplasia Internal Malformations 52
Bonnemann Meinecke Syndrome 52
Bonnemann-Meinecke Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
porencephaly, cerebellar hypoplasia, and internal malformations:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601322
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1832472
Orphanet 58 ORPHA2941
MedGen 41 C1832472

Summaries for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

MalaCards based summary : Porencephaly, Cerebellar Hypoplasia, and Internal Malformations, also known as porencephaly-cerebellar hypoplasia-internal malformations syndrome, is related to tetralogy of fallot and cerebellar hypoplasia. Related phenotypes are atrial septal defect and cerebellar hypoplasia

More information from OMIM: 601322

Related Diseases for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Diseases related to Porencephaly, Cerebellar Hypoplasia, and Internal Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tetralogy of fallot 10.2
2 cerebellar hypoplasia 10.2
3 porencephaly 10.2
4 heart septal defect 10.2
5 atrial heart septal defect 10.2
6 situs inversus 10.2

Graphical network of the top 20 diseases related to Porencephaly, Cerebellar Hypoplasia, and Internal Malformations:



Diseases related to Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Symptoms & Phenotypes for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Human phenotypes related to Porencephaly, Cerebellar Hypoplasia, and Internal Malformations:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 HP:0001631
2 cerebellar hypoplasia 31 HP:0001321
3 tetralogy of fallot 31 HP:0001636
4 agenesis of cerebellar vermis 31 HP:0002335
5 situs inversus totalis 31 HP:0001696
6 porencephalic cyst 31 HP:0002132

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
atrial septal defect
tetralogy of fallot
situs inversus

Neuro:
cerebellar hypoplasia
bilateral porencephaly
absent vermis

Clinical features from OMIM:

601322

Drugs & Therapeutics for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Search Clinical Trials , NIH Clinical Center for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Genetic Tests for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Anatomical Context for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Publications for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Articles related to Porencephaly, Cerebellar Hypoplasia, and Internal Malformations:

# Title Authors PMID Year
1
Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. 56 61
8737647 1996

Variations for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Expression for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Search GEO for disease gene expression data for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations.

Pathways for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

GO Terms for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

Sources for Porencephaly, Cerebellar Hypoplasia, and Internal Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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