Lentiginosis, Inherited Patterned disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the skin and subcutaneous tissue

Other disorders of the skin and subcutaneous tissue

Other disorders of pigmentation

Other melanin hyperpigmentation

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

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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

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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
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:

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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)

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Drugs & Therapeutics for Lentiginosis, Inherited Patterned

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

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Genetic Tests for Lentiginosis, Inherited Patterned

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Anatomical Context for Lentiginosis, Inherited Patterned

Organs/tissues related to Lentiginosis, Inherited Patterned:

MalaCards : Skin, Heart

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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	Xing Q...He L	15841387	2005
2	Inherited patterned lentiginosis in blacks. ⁵⁷	O'Neill JF...James WD	2673048	1989
3	Patient with confirmed LEOPARD syndrome developing multiple melanoma. ⁶²	Colmant C...Tromme I	29445579	2018
4	Pigmentary disorders of the eyes and skin. ⁶²	Que SK...Ricketts J	25704935	2015
5	Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. ⁶²	Fryer PR...Pope FM	1424250	1992
6	[Congenital diffuse melanosis, lentiginosis, diffuse ganglioneuromatosis and multiple schwannoma of the digestive system: an original neurocristopathy?]. ⁶²	Lacour JP...Ortonne JP	2619161	1989
7	Pathology of canine lentiginosis profusa. ⁶²	Van Rensburg IB...Briggs OM	3806560	1986
8	Mitral valve prolapse and lentiginosis profusa. ⁶²	Chisholm JC	7310926	1981
9	[Lentiginosis profusa syndrome and the heart. Leopard syndrome and hypertrophic obstructive cardiomyopathy]. ⁶²	Takatsu T...Imamura K	560516	1977
10	[Lentiginosis profusa syndrome]. ⁶²	Hori Y	612800	1977
11	Lentiginosis profusa. III: Aesthetic and sanguineous aspects. ⁶²	Van Voolen GA...Selmanowitz VJ	1087902	1976
12	Lentiginosis profusa syndrome. IV. Giant pigment granules (light microscopy). ⁶²	Selmanowitz VJ	55042	1975
13	Granular cell myoblastoma lentiginosis profusa. ⁶²	Nurse DS	4370055	1974
14	Lentiginosis profusa syndrome (multiple lentigines syndrome). ⁶²	Selmanowitz VJ...Felsenstein JM	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	Selmanowitz VJ	4109279	1971
16	Lentiginosis profusa in daughter and mother: multiple granular cell "myoblastomas" in the former. ⁶²	Selmanowitz VJ...Orentreich N	4315413	1970
17	[Histologic iconography. Lentiginosis profusa perigenito-axillaris]. ⁶²	Korting GW	4962129	1967
18	[Keratinising lentiginosis profusa]. ⁶²	DEGOS R...CARTEAUD A	13327368	1956

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Genes for Lentiginosis, Inherited Patterned

Genes related to Lentiginosis, Inherited Patterned (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SASH1	SAM And SH3 Domain Containing 1	Protein Coding	350	Causative germline mutation ⁵⁸	26203640
2	LOC619539	Lentiginosis, Inherited Patterned	Genetic Locus	8.86	GeneCards inferred via : Gene name (show sections)

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Variations for Lentiginosis, Inherited Patterned

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Expression for Lentiginosis, Inherited Patterned

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

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Pathways for Lentiginosis, Inherited Patterned

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GO Terms for Lentiginosis, Inherited Patterned

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Sources for Lentiginosis, Inherited Patterned

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LNT008 MIFTS: 22	Lentiginosis, Inherited Patterned Categories: Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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