MCID: PRM188
MIFTS: 18

Primary Cutis Verticis Gyrata

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Primary Cutis Verticis Gyrata

MalaCards integrated aliases for Primary Cutis Verticis Gyrata:

Name: Primary Cutis Verticis Gyrata 58

Characteristics:

Orphanet epidemiological data:

58
primary cutis verticis gyrata
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Primary Cutis Verticis Gyrata

MalaCards based summary : Primary Cutis Verticis Gyrata is related to cutis verticis gyrata and cutis verticis gyrata and mental retardation. Affiliated tissues include skin and cerebellum, and related phenotypes are seizures and thickened skin

Related Diseases for Primary Cutis Verticis Gyrata

Diseases in the Cutis Verticis Gyrata family:

Primary Essential Cutis Verticis Gyrata Primary Cutis Verticis Gyrata

Diseases related to Primary Cutis Verticis Gyrata via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cutis verticis gyrata 10.9
2 cutis verticis gyrata and mental retardation 10.3
3 fragile x syndrome 10.3
4 primary hypertrophic osteoarthropathy 10.3
5 acromegaly 10.3

Graphical network of the top 20 diseases related to Primary Cutis Verticis Gyrata:



Diseases related to Primary Cutis Verticis Gyrata

Symptoms & Phenotypes for Primary Cutis Verticis Gyrata

Human phenotypes related to Primary Cutis Verticis Gyrata:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
3 nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003764
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
7 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
9 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
10 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
11 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
12 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370

Drugs & Therapeutics for Primary Cutis Verticis Gyrata

Search Clinical Trials , NIH Clinical Center for Primary Cutis Verticis Gyrata

Genetic Tests for Primary Cutis Verticis Gyrata

Anatomical Context for Primary Cutis Verticis Gyrata

MalaCards organs/tissues related to Primary Cutis Verticis Gyrata:

40
Skin, Cerebellum

Publications for Primary Cutis Verticis Gyrata

Articles related to Primary Cutis Verticis Gyrata:

(show all 18)
# Title Authors PMID Year
1
Congenital primary cutis verticis gyrata. 61
31214356 2019
2
Primary cutis verticis gyrata: magnetic resonance imaging findings. 61
30951407 2019
3
Primary cutis verticis gyrata. 61
25950523 2015
4
Management of primary cutis verticis gyrata with tissue expansion and hairline lowering foreheadplasty. 61
20129836 2010
5
Primary cutis verticis gyrata and scalp reduction in one stage with multiple pinwheel flaps (revisited). 61
18384615 2008
6
[Asymptomatic cerebriform folds of the scalp. Diagnosis: primary Cutis verticis gyrata (CVG)]. 61
17622503 2007
7
Giant primary cutis verticis gyrata successfully treated with surgical excision and tissue expansion. 61
16706776 2006
8
Congenital primary cutis verticis gyrata. 61
12172144 2002
9
Spot the diagnosis. Primary cutis verticis gyrata. 61
12214569 2002
10
[Essential primary cutis verticis gyrata] 61
14647817 2002
11
MRI in essential primary cutis verticis gyrata. 61
11688700 2001
12
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. 61
11169562 2001
13
Primary cutis verticis gyrata or pachydermia verticis gyrata: a peculiar scalp disorder of mentally retarded adult males. 61
8573924 1995
14
An endocrinological study of patients with primary cutis verticis gyrata. 61
7904399 1993
15
Primary cutis verticis gyrata: CT findings. 61
8331244 1993
16
[Cutis verticis gyrata: reduction surgical treatment]. 61
8304712 1993
17
Prevalence of primary cutis verticis gyrata in a psychiatric population: association with chromosomal fragile sites. 61
1981419 1990
18
Essential primary cutis verticis gyrata. Treatment with the scalp reduction procedure. 61
6497415 1984

Variations for Primary Cutis Verticis Gyrata

Expression for Primary Cutis Verticis Gyrata

Search GEO for disease gene expression data for Primary Cutis Verticis Gyrata.

Pathways for Primary Cutis Verticis Gyrata

GO Terms for Primary Cutis Verticis Gyrata

Sources for Primary Cutis Verticis Gyrata

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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