MCID: ICH027
MIFTS: 10

Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin

Categories: Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

MalaCards integrated aliases for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin:

Name: Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 601039
MedGen 41 C1832858

Summaries for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

MalaCards based summary : Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin Affiliated tissues include skin, and related phenotypes are intellectual disability and generalized ichthyosis

More information from OMIM: 601039

Related Diseases for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Symptoms & Phenotypes for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Human phenotypes related to Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 generalized ichthyosis 31 HP:0007503

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
generalized ichthyosis

Skin Nails Hair Skin Histology:
unusually large oval keratohyalin granules in granular cells

Neurologic Central Nervous System:
mental retardation

Clinical features from OMIM:

601039

Drugs & Therapeutics for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Search Clinical Trials , NIH Clinical Center for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin

Genetic Tests for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Anatomical Context for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

MalaCards organs/tissues related to Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin:

40
Skin

Publications for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Articles related to Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin:

# Title Authors PMID Year
1
Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities. 56
8669437 1996

Variations for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Expression for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Search GEO for disease gene expression data for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin.

Pathways for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

GO Terms for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

Sources for Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin...

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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