MCID: ATS270
MIFTS: 28

Autosomal Dominant Café Au Lait Spots

Categories: Rare diseases, Neuronal diseases, Genetic 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 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:



External Ids:

SNOMED-CT via HPO 69 403536009 699225003

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

Related Diseases for Autosomal Dominant Café Au Lait Spots

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

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

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 29

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
12.88 NF1 PTPN11 SPRED1 SPRED2
2
Show member pathways
12.67 NF1 PTPN11 SPRED1 SPRED2
3
Show member pathways
12.01 PTPN11 SPRED1 SPRED2
4
Show member pathways
11.62 PTPN11 SPRED1 SPRED2
5
Show member pathways
11.56 PTPN11 SPRED1
6 11.46 NF1 PTPN11
7
Show member pathways
11.34 PTPN11 SPRED1 SPRED2
8
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:

# 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 for Autosomal Dominant Café Au Lait Spots

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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