MCID: ICH006
MIFTS: 5

Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

MalaCards integrated aliases for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation:

Name: Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 52
Jagell Holmgren Hofer Syndrome 52 71

Classifications:



External Ids:

UMLS 71 C1855788

Summaries for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2269 Definition Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ichthyosis Alopecia Eclabion Ectropion Mental Retardation, also known as jagell holmgren hofer syndrome, is related to ichthyosis with alopecia, eclabium, ectropion, and mental retardation.

Related Diseases for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Diseases related to Ichthyosis Alopecia Eclabion Ectropion Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis with alopecia, eclabium, ectropion, and mental retardation 11.9

Symptoms & Phenotypes for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Drugs & Therapeutics for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Search Clinical Trials , NIH Clinical Center for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Genetic Tests for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Anatomical Context for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Publications for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Variations for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Expression for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Search GEO for disease gene expression data for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation.

Pathways for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

GO Terms for Ichthyosis Alopecia Eclabion Ectropion Mental Retardation

Sources for Ichthyosis Alopecia Eclabion Ectropion 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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