MCID: PRN057
MIFTS: 16

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 58
Porencephaly-Cerebellar Hypoplasia-Internal Malformations Syndrome 60
Porencephaly Cerebellar Hypoplasia Internal Malformations 54
Bonnemann Meinecke Syndrome 54
Bonnemann-Meinecke Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
porencephaly, cerebellar hypoplasia, and internal malformations:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 601322
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1832472
Orphanet 60 ORPHA2941
MedGen 43 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 cerebellar hypoplasia and porencephaly. Related phenotypes are atrial septal defect and cerebellar hypoplasia

Description 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 cerebellar hypoplasia 10.2
2 porencephaly 10.2

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 33 HP:0001631
2 cerebellar hypoplasia 33 HP:0001321
3 tetralogy of fallot 33 HP:0001636
4 situs inversus totalis 33 HP:0001696
5 agenesis of cerebellar vermis 33 HP:0002335
6 porencephalic cyst 33 HP:0002132

Symptoms via clinical synopsis from OMIM:

58
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 Year
1
Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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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