MCID: LNT008
MIFTS: 22

Lentiginosis, Inherited Patterned

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lentiginosis, Inherited Patterned

MalaCards integrated aliases for Lentiginosis, Inherited Patterned:

Name: Lentiginosis, Inherited Patterned 57
Lentiginosis Profusa 57 71
Familial Multiple Lentigines Syndrome Without Systemic Involvement 58
Familial Generalized Lentiginosis 58
Inherited Patterned Lentiginosis 75
Familial Lentigines Profusa 58
Lentiginosis, Generalized 57
Lentiginosis, Diffuse 57

Characteristics:


Inheritance:

Lentiginosis, Inherited Patterned: Autosomal dominant 57
Familial Generalized Lentiginosis: Autosomal dominant 58

Age Of Onset:

Familial Generalized Lentiginosis: All ages 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 151001
ICD10 via Orphanet 32 L81.4
Orphanet 58 ORPHA231040
MedGen 40 C3492944
UMLS 71 C3492944

Summaries for Lentiginosis, Inherited Patterned

Orphanet: 58 Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.

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

Wikipedia: 75 Inherited patterned lentiginosis is an inherited skin condition that results in widespread small, flat... more...

More information 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 noonan syndrome with multiple lentigines 11.6
2 lentigines 10.5
3 leopard syndrome 1 10.3
4 neurofibromatosis-noonan syndrome 10.3
5 orthostatic intolerance 10.2
6 hypertrophic cardiomyopathy 10.2
7 myoblastoma 10.2
8 peutz-jeghers syndrome 10.1
9 neurilemmoma 9.9
10 diffuse meningeal melanocytosis 9.9

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypermelanotic macule 30 HP:0001034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin:
facial, lip, extremity, buttock, and palmoplantar small, discrete hyperpigmented macules

Clinical features from OMIM®:

151001 (Updated 08-Dec-2022)

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

Organs/tissues related to Lentiginosis, Inherited Patterned:

MalaCards : Skin, Heart

Publications for Lentiginosis, Inherited Patterned

Articles related to Lentiginosis, Inherited Patterned:

(show all 18)
# Title Authors PMID Year
1
A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3. 62 57
15841387 2005
2
Inherited patterned lentiginosis in blacks. 57
2673048 1989
3
Patient with confirmed LEOPARD syndrome developing multiple melanoma. 62
29445579 2018
4
Pigmentary disorders of the eyes and skin. 62
25704935 2015
5
Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. 62
1424250 1992
6
[Congenital diffuse melanosis, lentiginosis, diffuse ganglioneuromatosis and multiple schwannoma of the digestive system: an original neurocristopathy?]. 62
2619161 1989
7
Pathology of canine lentiginosis profusa. 62
3806560 1986
8
Mitral valve prolapse and lentiginosis profusa. 62
7310926 1981
9
[Lentiginosis profusa syndrome and the heart. Leopard syndrome and hypertrophic obstructive cardiomyopathy]. 62
560516 1977
10
[Lentiginosis profusa syndrome]. 62
612800 1977
11
Lentiginosis profusa. III: Aesthetic and sanguineous aspects. 62
1087902 1976
12
Lentiginosis profusa syndrome. IV. Giant pigment granules (light microscopy). 62
55042 1975
13
Granular cell myoblastoma lentiginosis profusa. 62
4370055 1974
14
Lentiginosis profusa syndrome (multiple lentigines syndrome). 62
5000391 1971
15
Lentiginosis profusa syndrome (multiple lentigines syndrome). II. Histological findings, modified Crowe's sign, and possible relationship to von Recklinghausen's disease. 62
4109279 1971
16
Lentiginosis profusa in daughter and mother: multiple granular cell "myoblastomas" in the former. 62
4315413 1970
17
[Histologic iconography. Lentiginosis profusa perigenito-axillaris]. 62
4962129 1967
18
[Keratinising lentiginosis profusa]. 62
13327368 1956

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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