MCID: LNT008
MIFTS: 18

Lentiginosis, Inherited Patterned

Categories: Skin diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Lentiginosis, Inherited Patterned

MalaCards integrated aliases for Lentiginosis, Inherited Patterned:

Name: Lentiginosis, Inherited Patterned 57
Lentiginosis Profusa 57 73
Familial Multiple Lentigines Syndrome Without Systemic Involvement 59
Familial Generalized Lentiginosis 59
Familial Lentigines Profusa 59
Lentiginosis, Generalized 57
Lentiginosis, Diffuse 57

Characteristics:

Orphanet epidemiological data:

59
familial generalized lentiginosis
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
lentiginosis, inherited patterned:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 151001
Orphanet 59 ORPHA231040
ICD10 via Orphanet 34 L81.4
MedGen 42 C3492944
SNOMED-CT via HPO 69 263681008
UMLS 73 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 : 76 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 11.3
2 noonan syndrome with multiple lentigines 11.3
3 myoblastoma 10.2

Symptoms & Phenotypes for Lentiginosis, Inherited Patterned

Symptoms via clinical synopsis from OMIM:

57
Skin:
facial, lip, extremity, buttock, and palmoplantar small, discrete hyperpigmented macules


Clinical features from OMIM:

151001

Human phenotypes related to Lentiginosis, Inherited Patterned:

32
# Description HPO Frequency HPO Source Accession
1 hypermelanotic macule 32 HP:0001034

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:

41
Skin

Publications for Lentiginosis, Inherited Patterned

Articles related to Lentiginosis, Inherited Patterned:

# Title Authors Year
1
Granular cell myoblastoma lentiginosis profusa. ( 4370055 )
1974

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....