Autosomal Dominant Café Au Lait Spots disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Autosomal Dominant Café Au Lait Spots

MalaCards integrated aliases for Autosomal Dominant Café Au Lait Spots:

Name: Autosomal Dominant Café Au Lait Spots ⁵³

Neurofibromatosis Type 6 ⁵³ ²⁹

Multiple Cafe´-Au-Lait Syndrome ⁵³

Familial Cafe´-Au-Lait Spots ⁵³

Multiple Cafe´-Au-Lait Spots ⁵³

Nf6 ⁵³

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

SNOMED-CT via HPO ⁶⁹ 403536009 699225003

Sources

Summaries for Autosomal Dominant Café Au Lait Spots

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2678Disease definitionNeurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.EpidemiologyPrevalence is unknown, but the disease appears to be extremely rare.Clinical descriptionThe macules may appear in infancy, but usually they are detected after 2 years of age. CAL lesions are hyperpigmented with smooth or irregular borders. Their size may vary from a few millimeters to more than 10 cm.EtiologyThe etiology of NF6 remains unknown. Close linkage to the NF1 gene (17q11.2) has been reported in some cases.Diagnostic methodsThe diagnosis is based on the presence of six or more CAL macules.Differential diagnosisDifferential diagnoses include neurofibromatosis type 1, McCune-Albright syndrome, and tuberous sclerosis (see these terms).Genetic counselingTransmission is autosomal dominant.Management and treatmentIsolated CAL lesions do not require medical care.PrognosisCAL spots are benign and may resolve with age.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Dominant Café Au Lait Spots, also known as neurofibromatosis type 6, is related to legius syndrome and cafe-au-lait spots, multiple. An important gene associated with Autosomal Dominant Café Au Lait Spots is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Developmental Biology and Cytokine Signaling in Immune system. Related phenotypes are freckling and multiple cafe-au-lait spots

Sources

Related Diseases for Autosomal Dominant Café Au Lait Spots

Diseases related to Autosomal Dominant Café Au Lait Spots via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	legius syndrome	29.8	NF1 PTPN11 SPRED1 SPRED2
2	cafe-au-lait spots, multiple	12.2
3	neurofibromatosis-noonan syndrome	9.9	NF1 PTPN11
4	myelodysplastic myeloproliferative cancer	9.9	NF1 PTPN11
5	leopard syndrome	9.8	NF1 PTPN11
6	pulmonic stenosis	9.8	NF1 PTPN11
7	neurofibromatosis, type iv, of riccardi	9.7	NF1 PTPN11
8	plexiform neurofibroma	9.7	NF1 SPRED1
9	neurilemmomatosis	9.6	NF1 SPRED1
10	pilocytic astrocytoma	9.6	NF1 PTPN11
11	pulmonary valve disease	9.5	PTPN11 SPRED1
12	bone marrow cancer	9.5	NF1 PTPN11
13	cardiofaciocutaneous syndrome 1	9.4	PTPN11 SPRED1
14	scoliosis	9.2	NF1 PTPN11
15	noonan syndrome 1	9.0	NF1 PTPN11 SPRED1
16	juvenile myelomonocytic leukemia	9.0	NF1 PTPN11 SPRED1
17	trehalase deficiency	8.7	NF1 PTPN11 SPRED1

Graphical network of the top 20 diseases related to Autosomal Dominant Café Au Lait Spots:

Sources

Symptoms & Phenotypes for Autosomal Dominant Café Au Lait Spots

Human phenotypes related to Autosomal Dominant Café Au Lait Spots:

³²

#	Description	HPO Frequency	HPO Source Accession
1	freckling ³²	occasional (7.5%)	HP:0001480
2	multiple cafe-au-lait spots ³²	hallmark (90%)	HP:0007565

GenomeRNAi Phenotypes related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

²⁶ (show all 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.47	SPRED2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	9.47	SPRED2 PTPN11
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.47	PTPN11
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.47	PTPN11
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.47	PTPN11
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.47	SPRED2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	9.47	PTPN11
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-19	9.47	SPRED2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.47	PTPN11
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-37	9.47	PTPN11
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.47	PTPN11
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.47	PTPN11
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	9.47	PTPN11

MGI Mouse Phenotypes related to Autosomal Dominant Café Au Lait Spots:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.33	NF1 PTPN11 SPRED1
2	hematopoietic system	MP:0005397	9.26	NF1 PTPN11 SPRED1 SPRED2
3	limbs/digits/tail	MP:0005371	8.92	NF1 PTPN11 SPRED1 SPRED2

Sources

Drugs & Therapeutics for Autosomal Dominant Café Au Lait Spots

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Café Au Lait Spots

Sources

Genetic Tests for Autosomal Dominant Café Au Lait Spots

Genetic tests related to Autosomal Dominant Café Au Lait Spots:

#	Genetic test	Affiliating Genes
1	Neurofibromatosis Type 6 ²⁹

Sources

Anatomical Context for Autosomal Dominant Café Au Lait Spots

Sources

Publications for Autosomal Dominant Café Au Lait Spots

Articles related to Autosomal Dominant Café Au Lait Spots:

#	Title	Authors	Year
1	Multiple or familial cafeI8-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis. ( 22630574 )	Madson J.G.	2012

Sources

Genes for Autosomal Dominant Café Au Lait Spots

Genes related to Autosomal Dominant Café Au Lait Spots (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NF1	Neurofibromin 1	Protein Coding	18.03	GeneCards inferred via : Publications (show sections)
2	PTPN11	Protein Tyrosine Phosphatase, Non-Receptor Type 11	Protein Coding	18.03	GeneCards inferred via : Publications (show sections)
3	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	18.03	GeneCards inferred via : Publications (show sections)
4	SPRED2	Sprouty Related EVH1 Domain Containing 2	Protein Coding	18.03	GeneCards inferred via : Publications (show sections)

Sources

Variations for Autosomal Dominant Café Au Lait Spots

Sources

Expression for Autosomal Dominant Café Au Lait Spots

Search GEO for disease gene expression data for Autosomal Dominant Café Au Lait Spots.

Sources

Pathways for Autosomal Dominant Café Au Lait Spots

Pathways related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	12.88	NF1 PTPN11 SPRED1 SPRED2
2	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	12.67	NF1 PTPN11 SPRED1 SPRED2
3	Negative regulation of FGFR3 signaling ⁶⁶ Show member pathways FGFR1 ligand binding and activation ⁶⁶ FGFR1c ligand binding and activation ⁶⁶ FGFRL1 modulation of FGFR1 signaling ⁶⁶ Negative regulation of FGFR1 signaling ⁶⁶ Negative regulation of FGFR2 signaling ⁶⁶ Negative regulation of FGFR4 signaling ⁶⁶ Signaling by activated point mutants of FGFR1 ⁶⁶ Signaling by FGFR1 ⁶⁶ Signaling by FGFR3 ⁶⁶ Signaling by FGFR4 ⁶⁶ Spry regulation of FGF signaling ⁶⁶	12.01	PTPN11 SPRED1 SPRED2
4	Signaling by FGFR2 ⁶⁶ Show member pathways FGFR2 ligand binding and activation ⁶⁶ FGFR2b ligand binding and activation ⁶⁶ Signaling by FGFR ⁶⁶	11.62	PTPN11 SPRED1 SPRED2
5	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	11.56	PTPN11 SPRED1
6	MAP Kinase Signaling ⁴	11.46	NF1 PTPN11
7	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	11.34	PTPN11 SPRED1 SPRED2
8	Signaling by PTK6 ⁶⁶ Show member pathways PTK6 Activates STAT3 ⁶⁶ PTK6 Down-Regulation ⁶⁶ PTK6 Expression ⁶⁶ PTK6 promotes HIF1A stabilization ⁶⁶ PTK6 Regulates Proteins Involved in RNA Processing ⁶⁶ PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases ⁶⁶ PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 ⁶⁶ RAS signaling downstream of NF1 loss-of-function variants ⁶⁶	10.91	NF1 SPRED1 SPRED2

Sources

GO Terms for Autosomal Dominant Café Au Lait Spots

Biological processes related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of protein kinase activity	GO:0006469	9.48	NF1 SPRED1
2	negative regulation of angiogenesis	GO:0016525	9.46	NF1 SPRED1
3	regulation of MAPK cascade	GO:0043408	9.43	NF1 SPRED1
4	regulation of signal transduction	GO:0009966	9.4	SPRED1 SPRED2
5	inactivation of MAPK activity	GO:0000188	9.37	SPRED1 SPRED2
6	negative regulation of MAPK cascade	GO:0043409	9.32	NF1 SPRED1
7	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.26	SPRED1 SPRED2
8	positive regulation of DNA damage response, signal transduction by p53 class mediator	GO:0043517	9.16	SPRED1 SPRED2
9	fibroblast growth factor receptor signaling pathway	GO:0008543	9.13	PTPN11 SPRED1 SPRED2
10	regulation of protein deacetylation	GO:0090311	8.62	SPRED1 SPRED2

Molecular functions related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein serine/threonine kinase inhibitor activity	GO:0030291	8.96	SPRED1 SPRED2
2	stem cell factor receptor binding	GO:0005173	8.62	SPRED1 SPRED2

Sources

Sources for Autosomal Dominant Café Au Lait Spots

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia