MCID: LLS001
MIFTS: 24

Lelis Syndrome

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lelis Syndrome

MalaCards integrated aliases for Lelis Syndrome:

Name: Lelis Syndrome 56 52 58 71
Ectodermal Dysplasia, Hypohidrotic, with Acanthosis Nigricans 56 52
Ectodermal Dysplasia-Acanthosis Nigricans Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
lelis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Lelis Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140936 Definition Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans . Epidemiology So far, only eight cases have been described in the literature. Clinical description Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Genetic counseling Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Lelis Syndrome, also known as ectodermal dysplasia, hypohidrotic, with acanthosis nigricans, is related to acanthosis nigricans and ectodermal dysplasia. Affiliated tissues include skin and tongue, and related phenotypes are acanthosis nigricans and hypohidrosis

Wikipedia : 74 Lelis syndrome it is a genetic disorder, a rare condition with dermatological and dental findings... more...

More information from OMIM: 608290

Related Diseases for Lelis Syndrome

Diseases related to Lelis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acanthosis nigricans 10.3
2 ectodermal dysplasia 10.3
3 ectodermal dysplasia 1, hypohidrotic, x-linked 10.3
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.1
5 anhidrosis 10.1
6 keratosis 10.1
7 ichthyosis 10.1
8 hypotrichosis 10.1

Graphical network of the top 20 diseases related to Lelis Syndrome:



Diseases related to Lelis Syndrome

Symptoms & Phenotypes for Lelis Syndrome

Human phenotypes related to Lelis Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acanthosis nigricans 58 31 obligate (100%) Obligate (100%) HP:0000956
2 hypohidrosis 58 31 obligate (100%) Obligate (100%) HP:0000966
3 hypotrichosis 58 31 obligate (100%) Obligate (100%) HP:0001006
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
6 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
7 furrowed tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000221
8 palmoplantar hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000972
9 perioral hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0010802
10 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
11 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
12 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
13 yellow nails 58 31 occasional (7.5%) Occasional (29-5%) HP:0011367
14 vitiligo 58 31 occasional (7.5%) Occasional (29-5%) HP:0001045
15 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
16 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
17 high pitched voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001620
18 sparse lateral eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0005338
19 abnormal toenail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008388
20 exotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000577
21 absent lower eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0007646
22 abnormality of the mouth 58 Very frequent (99-80%)

Clinical features from OMIM:

608290

Drugs & Therapeutics for Lelis Syndrome

Search Clinical Trials , NIH Clinical Center for Lelis Syndrome

Genetic Tests for Lelis Syndrome

Anatomical Context for Lelis Syndrome

MalaCards organs/tissues related to Lelis Syndrome:

40
Skin, Tongue

Publications for Lelis Syndrome

Articles related to Lelis Syndrome:

# Title Authors PMID Year
1
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. 61 56
19533796 2009
2
A case of Lelis syndrome with hystrix-like ichthyosis. 61 56
18627052 2008
3
Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome). 61 56
12457412 2002
4
Autosomal recessive ectodermal dysplasia. 56
1628512 1992
5
[Autosomal recessive ectodermal dysplasia--a special nosologic entity? (author's transl)]. 56
159839 1979
6
Lelis Syndrome: A Rare Cause of Acanthosis Nigricans. 61
27595879 2016
7
Lelis' syndrome: treatment with acitretin. 61
19126038 2008
8
Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome). 61
15456556 2004

Variations for Lelis Syndrome

Expression for Lelis Syndrome

Search GEO for disease gene expression data for Lelis Syndrome.

Pathways for Lelis Syndrome

GO Terms for Lelis Syndrome

Sources for Lelis 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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