MCID: LNT008
MIFTS: 21

Lentiginosis, Inherited Patterned

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lentiginosis, Inherited Patterned

MalaCards integrated aliases for Lentiginosis, Inherited Patterned:

Name: Lentiginosis, Inherited Patterned 58
Lentiginosis Profusa 58 74
Familial Multiple Lentigines Syndrome Without Systemic Involvement 60
Familial Generalized Lentiginosis 60
Familial Lentigines Profusa 60
Lentiginosis, Generalized 58
Lentiginosis, Diffuse 58

Characteristics:

Orphanet epidemiological data:

60
familial generalized lentiginosis
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
lentiginosis, inherited patterned:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 151001
ICD10 via Orphanet 35 L81.4
Orphanet 60 ORPHA231040
MedGen 43 C3492944
SNOMED-CT via HPO 70 263681008
UMLS 74 C3492944

Summaries for Lentiginosis, Inherited Patterned

MalaCards based summary : Lentiginosis, Inherited Patterned, also known as lentiginosis profusa, is related to leopard syndrome and noonan syndrome with multiple lentigines. An important gene associated with Lentiginosis, Inherited Patterned is SASH1 (SAM And SH3 Domain Containing 1). Affiliated tissues include skin, and related phenotype is hypermelanotic macule.

Wikipedia : 77 Inherited patterned lentiginosis is a cutaneous condition inherited in an autosomal dominant fashion,... more...

Description from OMIM: 151001

Related Diseases for Lentiginosis, Inherited Patterned

Diseases related to Lentiginosis, Inherited Patterned via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leopard syndrome 11.9
2 noonan syndrome with multiple lentigines 11.5
3 lentigines 10.4
4 leopard syndrome 1 10.4
5 orthostatic intolerance 10.3
6 myoblastoma 10.3

Graphical network of the top 20 diseases related to Lentiginosis, Inherited Patterned:



Diseases related to Lentiginosis, Inherited Patterned

Symptoms & Phenotypes for Lentiginosis, Inherited Patterned

Human phenotypes related to Lentiginosis, Inherited Patterned:

33
# Description HPO Frequency HPO Source Accession
1 hypermelanotic macule 33 HP:0001034

Symptoms via clinical synopsis from OMIM:

58
Skin:
facial, lip, extremity, buttock, and palmoplantar small, discrete hyperpigmented macules

Clinical features from OMIM:

151001

Drugs & Therapeutics for Lentiginosis, Inherited Patterned

Search Clinical Trials , NIH Clinical Center for Lentiginosis, Inherited Patterned

Genetic Tests for Lentiginosis, Inherited Patterned

Anatomical Context for Lentiginosis, Inherited Patterned

MalaCards organs/tissues related to Lentiginosis, Inherited Patterned:

42
Skin

Publications for Lentiginosis, Inherited Patterned

Articles related to Lentiginosis, Inherited Patterned:

# Title Authors Year
1
Pathology of canine lentiginosis profusa. ( 3806560 )
1986
2
Mitral valve prolapse and lentiginosis profusa. ( 7310926 )
1981
3
Lentiginosis profusa. III: Aesthetic and sanguineous aspects. ( 1087902 )
1976
4
Lentiginosis profusa syndrome. IV. Giant pigment granules (light microscopy). ( 55042 )
1975
5
Granular cell myoblastoma lentiginosis profusa. ( 4370055 )
1974
6
Lentiginosis profusa syndrome (multiple lentigines syndrome). ( 5000391 )
1971
7
Lentiginosis profusa syndrome (multiple lentigines syndrome). II. Histological findings, modified Crowe's sign, and possible relationship to von Recklinghausen's disease. ( 4109279 )
1971
8
Lentiginosis profusa in daughter and mother: multiple granular cell "myoblastomas" in the former. ( 4315413 )
1970

Variations for Lentiginosis, Inherited Patterned

Expression for Lentiginosis, Inherited Patterned

Search GEO for disease gene expression data for Lentiginosis, Inherited Patterned.

Pathways for Lentiginosis, Inherited Patterned

GO Terms for Lentiginosis, Inherited Patterned

Sources for Lentiginosis, Inherited Patterned

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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