CVG/MR
MCID: CTS046
MIFTS: 15

Cutis Verticis Gyrata and Mental Retardation (CVG/MR)

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Cutis Verticis Gyrata and Mental Retardation

MalaCards integrated aliases for Cutis Verticis Gyrata and Mental Retardation:

Name: Cutis Verticis Gyrata and Mental Retardation 56 71
Cvg/mr 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cutis verticis gyrata and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 219300
MedGen 41 C1857444
UMLS 71 C1857444

Summaries for Cutis Verticis Gyrata and Mental Retardation

MalaCards based summary : Cutis Verticis Gyrata and Mental Retardation, also known as cvg/mr, is related to cutis verticis gyrata and paraplegia. Affiliated tissues include skin, and related phenotypes are intellectual disability and cutis gyrata of scalp

More information from OMIM: 219300

Related Diseases for Cutis Verticis Gyrata and Mental Retardation

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

# Related Disease Score Top Affiliating Genes
1 cutis verticis gyrata 10.8
2 paraplegia 10.4

Symptoms & Phenotypes for Cutis Verticis Gyrata and Mental Retardation

Human phenotypes related to Cutis Verticis Gyrata and Mental Retardation:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 cutis gyrata of scalp 31 HP:0010541

Symptoms via clinical synopsis from OMIM:

56
Neuro:
mental retardation

Skin:
cutis verticis gyrata

Clinical features from OMIM:

219300

Drugs & Therapeutics for Cutis Verticis Gyrata and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Cutis Verticis Gyrata and Mental Retardation

Genetic Tests for Cutis Verticis Gyrata and Mental Retardation

Anatomical Context for Cutis Verticis Gyrata and Mental Retardation

MalaCards organs/tissues related to Cutis Verticis Gyrata and Mental Retardation:

40
Skin

Publications for Cutis Verticis Gyrata and Mental Retardation

Articles related to Cutis Verticis Gyrata and Mental Retardation:

(show all 11)
# Title Authors PMID Year
1
Survey of mentally retarded males for cutis verticis gyrata and chromosomal fragile sites. 56
1519641 1992
2
Cutis verticis gyrata and chromosomal fragile sites. 56
2018067 1991
3
Prevalence of primary cutis verticis gyrata in a psychiatric population: association with chromosomal fragile sites. 56
1981419 1990
4
CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY IN SWEDEN. II. GENETIC ASPECTS. 56
14296606 1965
5
CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY IN SWEDEN. I. EPIDEMIOLOGIC AND CLINICAL ASPECTS. 56
14110633 1964
6
[Two siblings of familial spastic paraplegia with cutis verticis gyrata and mental retardation]. 61
3383517 1988
7
Skin thickness in cutis verticis gyrata and mental retardation syndrome. 61
1011253 1976
8
The cutis verticis gyrata and mental retardation syndrome: electroencephalographic analysis of nineteen cases. 61
4465465 1974
9
The electrophoretic pattern of cerebrospinal fluid proteins in the cutis verticis gyrata and mental retardation syndrome. 61
4827506 1974
10
The cutis verticis gyrata and mental retardation syndrome in a 4-year-old boy. 61
5579861 1971
11
Aetiological aspects of the cutis verticis gyrata and mental retardation syndrome. 61
5517962 1970

Variations for Cutis Verticis Gyrata and Mental Retardation

Expression for Cutis Verticis Gyrata and Mental Retardation

Search GEO for disease gene expression data for Cutis Verticis Gyrata and Mental Retardation.

Pathways for Cutis Verticis Gyrata and Mental Retardation

GO Terms for Cutis Verticis Gyrata and Mental Retardation

Sources for Cutis Verticis Gyrata and Mental Retardation

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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