MCID: KNR001
MIFTS: 8

Koone Rizzo Elias Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Koone Rizzo Elias Syndrome

MalaCards integrated aliases for Koone Rizzo Elias Syndrome:

Name: Koone Rizzo Elias Syndrome 52 71
Ichthyosis, Mental Retardation and Asymptomatic Spasticity 52

Classifications:



External Ids:

UMLS 71 C2931397

Summaries for Koone Rizzo Elias Syndrome

MalaCards based summary : Koone Rizzo Elias Syndrome, also known as ichthyosis, mental retardation and asymptomatic spasticity, is related to sjogren-larsson syndrome and ichthyosis, and has symptoms including muscle spasticity

Related Diseases for Koone Rizzo Elias Syndrome

Diseases related to Koone Rizzo Elias Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sjogren-larsson syndrome 10.2
2 ichthyosis 10.2
3 lipid storage disease 10.2
4 spasticity 10.2

Symptoms & Phenotypes for Koone Rizzo Elias Syndrome

UMLS symptoms related to Koone Rizzo Elias Syndrome:


muscle spasticity

Drugs & Therapeutics for Koone Rizzo Elias Syndrome

Search Clinical Trials , NIH Clinical Center for Koone Rizzo Elias Syndrome

Genetic Tests for Koone Rizzo Elias Syndrome

Anatomical Context for Koone Rizzo Elias Syndrome

Publications for Koone Rizzo Elias Syndrome

Articles related to Koone Rizzo Elias Syndrome:

# Title Authors PMID Year
1
Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity. 61
2241202 1990

Variations for Koone Rizzo Elias Syndrome

Expression for Koone Rizzo Elias Syndrome

Search GEO for disease gene expression data for Koone Rizzo Elias Syndrome.

Pathways for Koone Rizzo Elias Syndrome

GO Terms for Koone Rizzo Elias Syndrome

Sources for Koone Rizzo Elias 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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