MCID: ICH065
MIFTS: 18

Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation

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

Aliases & Classifications for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

MalaCards integrated aliases for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation:

Name: Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 56
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome 58
Jagell Holmgren Hofer Syndrome 71
Jagell-Holmgren-Hofer Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ichthyosis with alopecia, eclabium, ectropion, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 242510
UMLS via Orphanet 72 C1855788
Orphanet 58 ORPHA2269
MedGen 41 C1855788
UMLS 71 C1855788

Summaries for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

MalaCards based summary : Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation, also known as ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome, is related to ichthyosis alopecia eclabion ectropion mental retardation. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and congenital alopecia totalis

More information from OMIM: 242510

Related Diseases for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Diseases related to Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis alopecia eclabion ectropion mental retardation 11.9

Symptoms & Phenotypes for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Human phenotypes related to Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 congenital alopecia totalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005597
3 absent axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002221
4 absent pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002555
5 alopecia of scalp 58 31 hallmark (90%) Very frequent (99-80%) HP:0002293
6 generalized ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007503
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
9 generalized hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0005595
10 scaling skin 58 31 frequent (33%) Frequent (79-30%) HP:0040189
11 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
12 ectropion 58 31 frequent (33%) Frequent (79-30%) HP:0000656
13 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
14 epidermal acanthosis 58 31 frequent (33%) Frequent (79-30%) HP:0025092
15 cutis laxa 58 31 frequent (33%) Frequent (79-30%) HP:0000973
16 eclabion 58 31 frequent (33%) Frequent (79-30%) HP:0012472
17 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
18 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
19 seizures 58 Excluded (0%)
20 spasticity 58 Excluded (0%)
21 abnormality of the nervous system 58 Excluded (0%)
22 alopecia 31 HP:0001596
23 ichthyosis 31 HP:0008064
24 everted lower lip vermilion 31 HP:0000232
25 abnormal macular morphology 58 Excluded (0%)
26 hypogonadism 58 Excluded (0%)
27 rigidity 58 Excluded (0%)
28 paraplegia 58 Excluded (0%)
29 tetraplegia/tetraparesis 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Skin:
alopecia
ichthyosis

Neuro:
mental retardation

H E E N T:
ectropion
eclabion

Clinical features from OMIM:

242510

Drugs & Therapeutics for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Search Clinical Trials , NIH Clinical Center for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation

Genetic Tests for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Anatomical Context for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

MalaCards organs/tissues related to Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation:

40
Skin, Eye

Publications for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Articles related to Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation:

# Title Authors PMID Year
1
Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome. 56
3829441 1987

Variations for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Expression for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Search GEO for disease gene expression data for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation.

Pathways for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

GO Terms for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

Sources for Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental...

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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