NF6
MCID: ATS270
MIFTS: 24

Autosomal Dominant Café Au Lait Spots (NF6)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

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 54
Neurofibromatosis Type 6 54 30
Nf6 54

Classifications:



Summaries for Autosomal Dominant Café Au Lait Spots

NIH Rare Diseases : 54 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 cafe-au-lait spots, multiple and pulmonary valve disease. An important gene associated with Autosomal Dominant Café Au Lait Spots is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Innate Immune System and Developmental Biology. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Dominant Café Au Lait Spots

Diseases in the Cafe-Au-Lait Spots, Multiple family:

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 15)
# Related Disease Score Top Affiliating Genes
1 cafe-au-lait spots, multiple 11.2
2 pulmonary valve disease 10.0 PTPN11 SPRED1
3 neurofibromatosis-noonan syndrome 9.9 NF1 PTPN11
4 plexiform neurofibroma 9.9 NF1 SPRED1
5 myelodysplastic myeloproliferative cancer 9.9 NF1 PTPN11
6 leopard syndrome 9.9 NF1 PTPN11
7 cardiofaciocutaneous syndrome 1 9.9 PTPN11 SPRED1
8 neurilemmomatosis 9.9 NF1 SPRED1
9 pulmonic stenosis 9.9 NF1 PTPN11
10 neurofibromatosis, type iv, of riccardi 9.8 NF1 PTPN11
11 scoliosis 9.8 NF1 PTPN11
12 chronic myelomonocytic leukemia 9.7 NF1 PTPN11
13 juvenile myelomonocytic leukemia 9.6 NF1 PTPN11 SPRED1
14 bone marrow cancer 9.6 NF1 PTPN11
15 legius syndrome 9.2 NF1 PTPN11 SPRED1 SPRED2

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



Diseases related to Autosomal Dominant Café Au Lait Spots

Symptoms & Phenotypes for Autosomal Dominant Café Au Lait Spots

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

27 (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 PTPN11 SPRED2
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:

47
# 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

Drugs & Therapeutics for Autosomal Dominant Café Au Lait Spots

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

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 30

Anatomical Context for Autosomal Dominant Café Au Lait Spots

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 )
2012

Variations for Autosomal Dominant Café Au Lait Spots

Expression for Autosomal Dominant Café Au Lait Spots

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

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
Show member pathways
13.35 NF1 PTPN11 SPRED1 SPRED2
2
Show member pathways
12.83 NF1 PTPN11 SPRED1 SPRED2
3
Show member pathways
12.67 NF1 PTPN11 SPRED1 SPRED2
4
Show member pathways
11.82 NF1 PTPN11
5
Show member pathways
11.62 PTPN11 SPRED1 SPRED2
6
Show member pathways
11.53 PTPN11 SPRED1
7 11.42 NF1 PTPN11
8
Show member pathways
11.34 PTPN11 SPRED1 SPRED2
9
Show member pathways
10.91 NF1 SPRED1 SPRED2

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.51 NF1 PTPN11
2 MAPK cascade GO:0000165 9.49 NF1 SPRED1
3 negative regulation of angiogenesis GO:0016525 9.48 NF1 SPRED1
4 negative regulation of protein kinase activity GO:0006469 9.46 NF1 SPRED1
5 regulation of MAPK cascade GO:0043408 9.43 NF1 SPRED1
6 regulation of signal transduction GO:0009966 9.4 SPRED1 SPRED2
7 negative regulation of MAPK cascade GO:0043409 9.37 NF1 SPRED1
8 inactivation of MAPK activity GO:0000188 9.32 SPRED1 SPRED2
9 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.26 SPRED1 SPRED2
10 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.16 SPRED1 SPRED2
11 fibroblast growth factor receptor signaling pathway GO:0008543 9.13 PTPN11 SPRED1 SPRED2
12 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 kinase binding GO:0019901 9.33 PTPN11 SPRED1 SPRED2
2 protein serine/threonine kinase inhibitor activity GO:0030291 8.96 SPRED1 SPRED2
3 stem cell factor receptor binding GO:0005173 8.62 SPRED1 SPRED2

Sources for Autosomal Dominant Café Au Lait Spots

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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