MCID: NVS004
MIFTS: 13

Nova Syndrome

Categories: Rare diseases

Aliases & Classifications for Nova Syndrome

MalaCards integrated aliases for Nova Syndrome:

Name: Nova Syndrome 49 55
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 55
Port Wine Nevi Mega Cisterna Magna Hydrocephalus 49

Classifications:



Summaries for Nova Syndrome

MalaCards based summary : Nova Syndrome, is also known as port-wine nevi-mega cisterna magna-hydrocephalus syndrome, and has symptoms including cerebellar hypoplasia, abnormality of the cerebellar vermis and capillary hemangiomas.

Related Diseases for Nova Syndrome

Symptoms & Phenotypes for Nova Syndrome

Human phenotypes related to Nova Syndrome:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebellar hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001321
2 abnormality of the cerebellar vermis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002334
3 capillary hemangiomas 55 31 hallmark (90%) Very frequent (99-80%) HP:0005306
4 naevus flammeus of the eyelid 55 31 hallmark (90%) Very frequent (99-80%) HP:0010733
5 enlarged fetal cisterna magna 55 31 hallmark (90%) Very frequent (99-80%) HP:0011427
6 subcortical cerebral atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0012157
7 cerebral cortical hemiatrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0100308
8 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
9 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
10 cerebral cortical atrophy 55 Very frequent (99-80%)

Drugs & Therapeutics for Nova Syndrome

Search Clinical Trials , NIH Clinical Center for Nova Syndrome

Genetic Tests for Nova Syndrome

Anatomical Context for Nova Syndrome

Publications for Nova Syndrome

Variations for Nova Syndrome

Expression for Nova Syndrome

Search GEO for disease gene expression data for Nova Syndrome.

Pathways for Nova Syndrome

GO Terms for Nova Syndrome

Sources for Nova Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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