MCID: PRT138
MIFTS: 10

Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

MalaCards integrated aliases for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome:

Name: Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 58
Nova Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


Summaries for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

MalaCards based summary : Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome, is also known as nova syndrome. Related phenotypes are cerebellar hypoplasia and capillary hemangioma

Related Diseases for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Symptoms & Phenotypes for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Human phenotypes related to Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
2 capillary hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0005306
3 abnormality of the cerebellar vermis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002334
4 subcortical cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0012157
5 naevus flammeus of the eyelid 58 31 hallmark (90%) Very frequent (99-80%) HP:0010733
6 cerebral cortical hemiatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100308
7 enlarged fetal cisterna magna 58 31 hallmark (90%) Very frequent (99-80%) HP:0011427
8 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
9 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
10 cerebral cortical atrophy 58 Very frequent (99-80%)

Drugs & Therapeutics for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Search Clinical Trials , NIH Clinical Center for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Genetic Tests for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Anatomical Context for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Publications for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Variations for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Expression for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Search GEO for disease gene expression data for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome.

Pathways for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

GO Terms for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Sources for Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

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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