MCID: ICH066
MIFTS: 19

Ichthyosis--Cheek--Eyebrow Syndrome

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Ichthyosis--Cheek--Eyebrow Syndrome

MalaCards integrated aliases for Ichthyosis--Cheek--Eyebrow Syndrome:

Name: Ichthyosis--Cheek--Eyebrow Syndrome 56 71
Sidransky Feinstein Goodman Syndrome 52
Ichthyosis Cheek Eyebrow Syndrome 52
Ice Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ichthyosis--cheek--eyebrow syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

OMIM 56 146720
MedGen 41 C1840283
UMLS 71 C1840283

Summaries for Ichthyosis--Cheek--Eyebrow Syndrome

MalaCards based summary : Ichthyosis--Cheek--Eyebrow Syndrome, also known as sidransky feinstein goodman syndrome, is related to obsolete: ichthyosis-cheek-eyebrow syndrome and cogan-reese syndrome. Affiliated tissues include endothelial, skin and eye, and related phenotypes are high palate and pes planus

More information from OMIM: 146720

Related Diseases for Ichthyosis--Cheek--Eyebrow Syndrome

Diseases related to Ichthyosis--Cheek--Eyebrow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 obsolete: ichthyosis-cheek-eyebrow syndrome 12.7
2 cogan-reese syndrome 11.8
3 iridocorneal endothelial syndrome 11.7
4 corneal endothelial dystrophy 11.7
5 essential iris atrophy 11.6
6 ichthyosis 10.5
7 herpes simplex 9.8
8 aniridia 1 9.7
9 ichthyosis vulgaris 9.7
10 intraocular pressure quantitative trait locus 9.7
11 juvenile glaucoma 9.7
12 corneal edema 9.7
13 47,xyy 9.7

Graphical network of the top 20 diseases related to Ichthyosis--Cheek--Eyebrow Syndrome:



Diseases related to Ichthyosis--Cheek--Eyebrow Syndrome

Symptoms & Phenotypes for Ichthyosis--Cheek--Eyebrow Syndrome

Human phenotypes related to Ichthyosis--Cheek--Eyebrow Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 pes planus 31 HP:0001763
3 ichthyosis 31 HP:0008064
4 full cheeks 31 HP:0000293
5 abnormality of the thorax 31 HP:0000765
6 kyphoscoliosis 31 HP:0002751
7 sparse lateral eyebrow 31 HP:0005338

Symptoms via clinical synopsis from OMIM:

56
Limbs:
pes planus

Mouth:
high-arched palate

Facies:
prominent and full cheeks
sparse lateral eyebrows

Spine:
kyphoscoliosis

Skin:
ichthyosis vulgaris

Thorax:
anterior chest deformity

Clinical features from OMIM:

146720

Drugs & Therapeutics for Ichthyosis--Cheek--Eyebrow Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multi-center Study on Iridocorneal Endothelial (ICE) Syndrome in China Recruiting NCT03270761

Search NIH Clinical Center for Ichthyosis--Cheek--Eyebrow Syndrome

Genetic Tests for Ichthyosis--Cheek--Eyebrow Syndrome

Anatomical Context for Ichthyosis--Cheek--Eyebrow Syndrome

MalaCards organs/tissues related to Ichthyosis--Cheek--Eyebrow Syndrome:

40
Endothelial, Skin, Eye

Publications for Ichthyosis--Cheek--Eyebrow Syndrome

Articles related to Ichthyosis--Cheek--Eyebrow Syndrome:

# Title Authors PMID Year
1
Ichthyosis-cheek-eyebrow syndrome (ICE(skin)) 61 56
3621667 1987
2
ICE syndrome. 56
3342550 1988
3
Ichthyosis-cheek-eyebrow (ICE) syndrome: a new autosomal dominant disorder. 56
3568439 1987
4
Iridocorneal endothelial syndrome: unification of a disease spectrum. 56
483158 1979
5
[Ichthyosis-cheek-eyebrow syndrome]. 61
11528974 2001

Variations for Ichthyosis--Cheek--Eyebrow Syndrome

Expression for Ichthyosis--Cheek--Eyebrow Syndrome

Search GEO for disease gene expression data for Ichthyosis--Cheek--Eyebrow Syndrome.

Pathways for Ichthyosis--Cheek--Eyebrow Syndrome

GO Terms for Ichthyosis--Cheek--Eyebrow Syndrome

Sources for Ichthyosis--Cheek--Eyebrow 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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