MCID: NVS004
MIFTS: 12

Nova Syndrome

Categories: Rare diseases

Aliases & Classifications for Nova Syndrome

MalaCards integrated aliases for Nova Syndrome:

Name: Nova Syndrome 53 59
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 59
Port Wine Nevi Mega Cisterna Magna Hydrocephalus 53

Classifications:



Summaries for Nova Syndrome

MalaCards based summary : Nova Syndrome, is also known as port-wine nevi-mega cisterna magna-hydrocephalus syndrome. Related phenotypes are cerebellar hypoplasia and abnormality of the cerebellar vermis

Related Diseases for Nova Syndrome

Symptoms & Phenotypes for Nova Syndrome

Human phenotypes related to Nova Syndrome:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
2 abnormality of the cerebellar vermis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002334
3 naevus flammeus of the eyelid 59 32 hallmark (90%) Very frequent (99-80%) HP:0010733
4 enlarged fetal cisterna magna 59 32 hallmark (90%) Very frequent (99-80%) HP:0011427
5 subcortical cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0012157
6 cerebral cortical hemiatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100308
7 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
8 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 cerebral cortical atrophy 59 Very frequent (99-80%)
10 capillary hemangiomas 59 Very frequent (99-80%)
11 capillary hemangioma 32 hallmark (90%) HP:0005306

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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