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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the skin and subcutaneous tissue

Other disorders of the skin and subcutaneous tissue

Other disorders of pigmentation

Other melanin hyperpigmentation

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

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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

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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	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:

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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

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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

MalaCards organs/tissues related to Lentiginosis, Inherited Patterned:

⁴²

Skin

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Publications for Lentiginosis, Inherited Patterned

Articles related to Lentiginosis, Inherited Patterned:

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

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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	PubmedIds
1	SASH1	SAM And SH3 Domain Containing 1	Protein Coding	350	Causative germline mutation ⁶⁰
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 BioSystems

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia