MCID: LNT008
MIFTS: 46

Lentiginosis, Inherited Patterned malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Reproductive diseases, Ear diseases, Cardiovascular diseases

Aliases & Classifications for Lentiginosis, Inherited Patterned

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Aliases & Descriptions for Lentiginosis, Inherited Patterned:

Name: Lentiginosis, Inherited Patterned 52 35
Leopard Syndrome 11 48 24 50 39 13 68
Multiple Lentigines Syndrome 11 48 24
Cardiomyopathic Lentiginosis 48 24
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 48
Familial Multiple Lentigines Syndrome Without Systemic Involvement 54
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 11
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 68
Progressive Cardiomyopathic Lentiginosis Syndrome 68
Progressive Cardiomyopathic Lentiginosis 11
 
Noonan Syndrome with Multiple Lentigines 48
Familial Generalized Lentiginosis 54
Lentiginosis Profusa Syndrome 11
Familial Lentigines Profusa 54
Generalized Lentiginosis 11
Cardiocutaneous Syndrome 11
Lentiginosis Profusa 68
Gorlin Syndrome Ii 11
Moynahan Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
familial multiple lentigines syndrome without systemic involvement:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

64
lentiginosis, inherited patterned:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 151001
Disease Ontology11 DOID:14291
MeSH39 D044542
SNOMED-CT62 111306001
NCIt45 C84820
Orphanet54 ORPHA231040
ICD10 via Orphanet31 L81.4

Summaries for Lentiginosis, Inherited Patterned

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NIH Rare Diseases:48 LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome:(L)entigines - dark spots on the skin(E)lectrocardiographic conduction defects - abnormalities of the electrical activity of the heart (O)cular hypertelorism - widely spaced eyes(P)ulmonary stenosis - obstruction of the normal outflow of blood from the right ventricle of the heart (A)bnormalities of the genitalia (R)etarded (slowed) growth resulting in short stature (D)eafness There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. Type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Other cases are caused by mutations in the MAP2K1  gene, and in some cases the cause is unknown. LEOPARD syndrome is inherited in an autosomal dominant manner. It can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition. Leopard syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Last updated: 6/28/2016

MalaCards based summary: Lentiginosis, Inherited Patterned, also known as leopard syndrome, is related to leopard syndrome 1 and leopard syndrome 2, and has symptoms including hypermelanotic macule, sense of smell impaired and seizures. An important gene associated with Lentiginosis, Inherited Patterned is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are CD209 (DC-SIGN) signaling and Serotonin Receptor 2 and ELK-SRF/GATA4 signaling. Affiliated tissues include skin, and related mouse phenotypes are Increased cell migration and Decreased cell migration.

Description from OMIM:52 151001

Related Diseases for Lentiginosis, Inherited Patterned

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 131.1BRAF, HRAS, MAP2K1, NF1, PTPN11, RAF1
2leopard syndrome 212.1
3leopard syndrome 312.1
4ptpn11-related leopard syndrome11.8
5raf1-related leopard syndrome11.8
6braf-related leopard syndrome11.7
7noonan syndrome with multiple lentigines11.6
8noonan syndrome 110.8
9split hand split foot malformation autosomal recessive10.5BRAF, HRAS
10otof-related deafness10.4BRAF, PTPN11, RAF1
11follicular mucinosis10.4PTPN11, SOS1
12cranial nerve malignant neoplasm10.2JUP, KRT74
13cervical adenoid basal carcinoma10.2PTPN11, SOS1, SPRED1
14pancreatic serous cystadenocarcinoma10.2PTPN11, SOS1, SPRED1
15diabetes mellitus, insulin-resistant, with acanthosis nigricans10.2PTPN11, RAF1, SOS1
16dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.1DSP, JUP
17growth hormone deficiency10.1DSP, JUP
18arrhythmogenic right ventricular dysplasia 810.1DSP, JUP
19cardiomyopathy10.1
20frontotemporal dementia, right temporal atrophy variant10.1DSP, JUP
21fixed pigmented erythema10.1DSP, JUP
22ketamine-induced biliary dilatation10.1DSP, JUP
23dermatosis papulosa nigra10.1HRAS, MAP2K1
24pleomorphic xanthoastrocytoma10.1BRAF, NF1
25codas syndrome10.1DSP, JUP
26ectodermal dysplasia/skin fragility syndrome10.0DSP, JUP
27epicardium cancer10.0BRAF, DSP
28growth hormone insensitivity with immunodeficiency10.0NF1, PTPN11
29klippel-feil syndrome 210.0DSP, JUP
30pterygium colli mental retardation digital anomalies10.0BRAF, PTPN11, RAF1, SOS1
31rad51c-related fanconi anemia10.0BRAF, PTPN11, RAF1, SOS1
32gliofibroma10.0BRAF, NF1
33granular cell tumor9.9
34atypical neurofibroma9.9NF1, SPRED1
35interstitial nephritis, karyomegalic9.9NF1, SPRED1
36pericarditis9.8BRAF, HRAS, MAP2K1
37neurofibromatosis, type 19.7
38leukemia9.7
39peripheral t-cell lymphoma9.7DSP, JUP
40growth restriction, severe, with distinctive facies9.7HRAS, MAP2K1, PTPN11, SOS1
41palmoplantar keratoderma, epidermolytic9.7DSP, KRT74
42ulceroglandular tularemia9.7HRAS, MAP2K1, PTPN11, SOS1
43histiocytosis9.7DSP, JUP, KRT74
44autoimmune disease of skin and connective tissue9.7DSP, JUP, KRT74
45tropical spastic paraparesis9.6DSP, NF1
46schizencephaly9.6
47obesity9.6
48wolff-parkinson-white syndrome9.6
49neurofibromatosis-noonan syndrome9.6
50steatocystoma multiplex9.6

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



Diseases related to lentiginosis, inherited patterned

Symptoms & Phenotypes for Lentiginosis, Inherited Patterned

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Symptoms by clinical synopsis from OMIM:

151001

Clinical features from OMIM:

151001

Human phenotypes related to Lentiginosis, Inherited Patterned:

 64
id Description HPO Frequency HPO Source Accession
1 hypermelanotic macule64 HP:0001034

UMLS symptoms related to Lentiginosis, Inherited Patterned:


sense of smell impaired, seizures

GenomeRNAi Phenotypes related to Lentiginosis, Inherited Patterned according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-39.2BRAF, HRAS, NF1, SOS1
2GR00055-A-18.5AKT3, BRAF, HRAS, JUP, NF1, SOS1
3GR00366-A-358.4BRAF, NF1, PTPN11, RAF1, SOS1

MGI Mouse Phenotypes related to Lentiginosis, Inherited Patterned according to GeneCards Suite gene sharing:

41 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9BRAF, MAP2K1, NF1, PTPN11, RAF1
2MP:00020068.1AKT3, BRAF, HRAS, MAP2K1, NF1, PTPN11
3MP:00053908.0BRAF, HRAS, MAP2K1, NF1, PTPN11, RAF1
4MP:00053887.9BRAF, HRAS, JUP, NF1, PTPN11, RAF1
5MP:00053697.8BRAF, DSP, JUP, NF1, PTPN11, RAF1
6MP:00053817.7BRAF, DSP, MAP2K1, NF1, PTPN11, SOS1
7MP:00028737.7AKT3, BRAF, HRAS, MAP2K1, NF1, PTPN11
8MP:00053977.7AKT3, BRAF, JUP, NF1, PTPN11, RAF1
9MP:00053797.7AKT3, BRAF, HRAS, MAP2K1, NF1, PTPN11
10MP:00053827.0BRAF, DSP, HRAS, MAP2K1, NF1, PTPN11
11MP:00053807.0BRAF, DSP, JUP, MAP2K1, NF1, PTPN11
12MP:00053846.9AKT3, BRAF, DSP, JUP, MAP2K1, NF1
13MP:00053766.7AKT3, BRAF, HRAS, JUP, MAP2K1, NF1
14MP:00107716.6BRAF, DSP, HRAS, JUP, MAP2K1, NF1
15MP:00036316.2AKT3, BRAF, DSP, HRAS, JUP, MAP2K1
16MP:00107686.1AKT3, BRAF, DSP, HRAS, JUP, MAP2K1
17MP:00053856.1AKT3, BRAF, DSP, HRAS, JUP, MAP2K1
18MP:00053785.8AKT3, BRAF, DSP, HRAS, JUP, MAP2K1

Drugs & Therapeutics for Lentiginosis, Inherited Patterned

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Drugs for Lentiginosis, Inherited Patterned (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Imiquimodapproved, investigationalPhase 313899011-02-657469
Synonyms:
1-(2-Methylpropyl)-1H-imidazole[4,5-c]quinoline-4-amine
1-(2-methylpropyl)-1H-imidazo[4,5-c]quinolin-4-amine
1-(2-methylpropyl)imidazo[4,5-c]quinolin-4-amine
1-Isobutyl-1H-imidazo[4,5-c]quinolin-4-amine
1-isobutyl-1H-imidazo(4,5-c)quinolin-4-amine
1-isobutyl-1H-imidazo[4,5-c]quinolin-4-amine
3M Brand of Imiquimod
4-Amino-1-isobutyl-1H-imidazo(4,5-c)quinoline
4-Amino-1-isobutyl-1H-imidazo[4,5-c]quinoline
99011-02-6
AC-529
AC1L1N2I
AC1Q4YO9
Aldara
Aldara (TN)
Aldara, Imiquimod
BB_SC-2107
BIDD:GT0859
Beselna
C056493
CHEBI:36704
CHEMBL1282
CID57469
D02500
DB00724
DZ-2636
FT-0080222
HMS2090M14
 
I06-0624
I06-2289
I0747
I5159_SIGMA
IMIQUIMOD
Imiquimod
Imiquimod (JAN/USAN/INN)
Imiquimod [USAN:INN]
Imiquimod acetate
Imiquimodum
LS-178395
MLS000083577
MTD-39
MolPort-002-507-845
NCGC00070736-02
NSC369100
R 837
R-837
S 26308
S-26308
S1211_Selleck
SMR000048307
STK583860
TL8006059
TMX-101
UNII-P1QW714R7M
ZINC19632912
Zartra
Zyclara
imiquimod
2
FluorouracilapprovedPhase 3179151-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
3Adjuvants, ImmunologicPhase 32484
4Interferon InducersPhase 3285
5interferonsPhase 32137
6Immunosuppressive AgentsPhase 312770
7Antimetabolites, AntineoplasticPhase 37171
8AnestheticsPhase 39001
9AntimetabolitesPhase 311774
10
Maravirocapproved, investigationalPhase 1142376348-65-13002977
Synonyms:
376348-65-1
4,4-Difluoro-N-((1S)-3-(exo-3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)oct-8-yl)-1-phenylpropyl)cyclohexanecarboxamide
4,4-difluoro-N-[(1S)-3-[(1R,5S)-3-(3-methyl-5-propan-2-yl-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]octan-8-yl]-1-phenylpropyl]cyclohexane-1-carboxamide
674782-29-7
AC-558
AC1MHEFQ
CHEBI:537583
CHEMBL1201187
CHEMBL256907
CID3002977
Celsentri
Celsentri(TM)
DB04835
Isopropyl, 4,4-difluoro-N-((1S)-3-{(1R,3s,5S)-3-(3-methyl-5-(propan-2-yl)-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)octan-8-yl}-1-phenylpropyl)cyclohexanecarboxamide
 
LS-182818
MVC
Maraviroc
Maraviroc [USAN]
PRO 140 & Maraviroc
PRO 140 (Anti-CCR5 monoclonal antibody) & exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
Selzentry
Selzentry(TM)
UK 427857
UK-427,857
UK-427,857 maraviroc (MVC)
UK-427857
UNII-MD6P741W8A
exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
maraviroc
11Antiviral AgentsPhase 19732
12Anti-HIV AgentsPhase 13100
13Anti-Infective AgentsPhase 121402
14Anti-Retroviral AgentsPhase 13232

Interventional clinical trials:

idNameStatusNCT IDPhase
1Topical or Ablative Treatment in Preventing Anal Cancer in Patients With HIV and Anal High-Grade Squamous Intraepithelial LesionsRecruitingNCT02135419Phase 3
2Safety and Pharmacokinetics of Dapivirine/Maraviroc Vaginal RingCompletedNCT01363037Phase 1
3Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731

Search NIH Clinical Center for Lentiginosis, Inherited Patterned


Cochrane evidence based reviews: leopard syndrome

Genetic Tests for Lentiginosis, Inherited Patterned

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Genetic tests related to Lentiginosis, Inherited Patterned:

id Genetic test Affiliating Genes
1 Leopard Syndrome24 RAF1

Anatomical Context for Lentiginosis, Inherited Patterned

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MalaCards organs/tissues related to Lentiginosis, Inherited Patterned:

36
Skin

Publications for Lentiginosis, Inherited Patterned

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Variations for Lentiginosis, Inherited Patterned

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Clinvar genetic disease variations for Lentiginosis, Inherited Patterned:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PTPN11NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met)SNVLikely pathogenic, Pathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
2PTPN11NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr)SNVPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
3RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)SNVPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
4RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)SNVPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
5RAF1NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn)SNVPathogenicrs80338798GRCh37Chr 3, 12627260: 12627260
6RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)SNVPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
7BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)SNVLikely pathogenic, Pathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
8BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)SNVLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
9PTPN11NM_002834.4(PTPN11): c.1381G> T (p.Ala461Ser)SNVPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
10PTPN11NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro)SNVPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897

Expression for genes affiliated with Lentiginosis, Inherited Patterned

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

Pathways for genes affiliated with Lentiginosis, Inherited Patterned

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Pathways related to Lentiginosis, Inherited Patterned according to GeneCards Suite gene sharing:

(show top 50)    (show all 129)
idSuper pathwaysScoreTop Affiliating Genes
19.9HRAS, RAF1
29.7MAP2K1, RAF1
39.7HRAS, PTPN11, RAF1
49.7BRAF, MAP2K1
59.7BRAF, MAP2K1
69.5BRAF, RAF1, SOS1
79.5BRAF, RAF1, SOS1
89.5HRAS, RAF1, SOS1
99.5HRAS, RAF1, SOS1
109.5HRAS, PTPN11, SOS1
11
Show member pathways
9.5HRAS, PTPN11, SOS1
129.5HRAS, PTPN11, SOS1
139.5HRAS, PTPN11, SOS1
14
Show member pathways
9.5HRAS, PTPN11, SOS1
159.4BRAF, MAP2K1, RAF1
16
Show member pathways
9.4BRAF, MAP2K1, RAF1
17
Show member pathways
9.4BRAF, MAP2K1, RAF1
189.4HRAS, MAP2K1, RAF1
19
Show member pathways
9.4HRAS, MAP2K1, RAF1
209.4HRAS, MAP2K1, RAF1
219.4BRAF, HRAS, MAP2K1
229.4AKT3, MAP2K1, RAF1
23
Show member pathways
9.2MAP2K1, PTPN11, SOS1
249.2HRAS, PTPN11, RAF1, SOS1
259.2HRAS, MAP2K1, PTPN11, RAF1
269.1BRAF, HRAS, MAP2K1, RAF1
279.1BRAF, HRAS, MAP2K1, RAF1
28
Show member pathways
9.1BRAF, HRAS, MAP2K1, RAF1
299.1BRAF, HRAS, MAP2K1, RAF1
309.1BRAF, HRAS, MAP2K1, RAF1
31
Show member pathways
9.1BRAF, HRAS, MAP2K1, RAF1
329.1BRAF, HRAS, MAP2K1, RAF1
33
Show member pathways
9.1BRAF, HRAS, MAP2K1, RAF1
34
Show member pathways
9.1BRAF, HRAS, MAP2K1, RAF1
35
Show member pathways
9.1AKT3, HRAS, PTPN11, SOS1
36
Show member pathways
9.1AKT3, BRAF, MAP2K1, RAF1
37
Show member pathways
9.1AKT3, BRAF, MAP2K1, RAF1
38
Show member pathways
9.1AKT3, BRAF, MAP2K1, RAF1
39
Show member pathways
9.1AKT3, BRAF, MAP2K1, RAF1
40
Show member pathways
9.1AKT3, HRAS, MAP2K1, RAF1
419.1AKT3, HRAS, MAP2K1, RAF1
429.1AKT3, HRAS, MAP2K1, RAF1
439.1AKT3, HRAS, MAP2K1, RAF1
44
Show member pathways
9.1AKT3, HRAS, MAP2K1, RAF1
459.1AKT3, HRAS, MAP2K1, RAF1
469.1AKT3, HRAS, MAP2K1, RAF1
47
Show member pathways
9.0HRAS, NF1, SPRED1
489.0BRAF, JUP, MAP2K1, RAF1
49
Show member pathways
9.0BRAF, MAP2K1, RAF1, SOS1
509.0BRAF, MAP2K1, RAF1, SOS1

GO Terms for genes affiliated with Lentiginosis, Inherited Patterned

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Cellular components related to Lentiginosis, Inherited Patterned according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:00300579.7DSP, JUP
2fascia adherensGO:00059169.4DSP, JUP
3cytosolGO:00058297.3BRAF, HRAS, JUP, MAP2K1, NF1, PTPN11
4cytoplasmGO:00057376.2AKT3, BRAF, DSP, HRAS, JUP, KRT74

Biological processes related to Lentiginosis, Inherited Patterned according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Ras protein signal transductionGO:004657910.6HRAS, SHOC2
2Bergmann glial cell differentiationGO:006002010.5MAP2K1, PTPN11
3cerebellar cortex formationGO:002169710.5MAP2K1, PTPN11
4cellular senescenceGO:009039810.4HRAS, MAP2K1
5regulation of axon regenerationGO:004867910.4BRAF, MAP2K1
6fibroblast growth factor receptor signaling pathwayGO:000854310.3PTPN11, SHOC2, SPRED1
7neurotrophin TRK receptor signaling pathwayGO:004801110.3PTPN11, RAF1, SOS1
8epidermal growth factor receptor signaling pathwayGO:000717310.2HRAS, PTPN11, SOS1
9leukocyte migrationGO:005090010.2HRAS, PTPN11, SOS1
10protein heterooligomerizationGO:005129110.2BRAF, HRAS, JUP
11bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.2DSP, JUP
12face developmentGO:006032410.2BRAF, MAP2K1, RAF1
13regulation of ventricular cardiac muscle cell action potentialGO:009891110.2DSP, JUP
14regulation of long-term neuronal synaptic plasticityGO:004816910.1HRAS, NF1
15thymus developmentGO:004853810.0BRAF, MAP2K1, RAF1
16thyroid gland developmentGO:00308789.9BRAF, MAP2K1, RAF1
17positive regulation of ERK1 and ERK2 cascadeGO:00703749.9BRAF, HRAS, MAP2K1, PTPN11
18intermediate filament cytoskeleton organizationGO:00451049.9DSP, KRT74, RAF1
19heart developmentGO:00075079.4MAP2K1, NF1, PTPN11, RAF1
20negative regulation of cell proliferationGO:00082859.3HRAS, MAP2K1, NF1, RAF1
21Ras protein signal transductionGO:00072659.3HRAS, NF1, SHOC2, SOS1
22wound healingGO:00420608.8DSP, NF1, RAF1
23signal transductionGO:00071658.8AKT3, HRAS, JUP, MAP2K1, RAF1, SOS1
24MAPK cascadeGO:00001658.3BRAF, HRAS, MAP2K1, NF1, RAF1, SOS1

Molecular functions related to Lentiginosis, Inherited Patterned according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:000470910.7BRAF, RAF1
2mitogen-activated protein kinase kinase bindingGO:003143410.7BRAF, RAF1
3cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:008608310.2DSP, JUP
4small GTPase bindingGO:003126710.0BRAF, RAF1
5cell adhesion molecule bindingGO:00508399.9DSP, JUP, PTPN11
6protein kinase activityGO:00046729.8AKT3, BRAF, MAP2K1, RAF1
7protein kinase bindingGO:00199019.6JUP, MAP2K1, SASH1, SPRED1
8protein serine/threonine kinase activityGO:00046749.4AKT3, BRAF, MAP2K1, RAF1

Sources for Lentiginosis, Inherited Patterned

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet