NF6
MCID: CFL005
MIFTS: 30

Cafe-Au-Lait Spots, Multiple (NF6)

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

Aliases & Classifications for Cafe-Au-Lait Spots, Multiple

MalaCards integrated aliases for Cafe-Au-Lait Spots, Multiple:

Name: Cafe-Au-Lait Spots, Multiple 57
Multiple Cafe-Au-Lait Spots 53 29 6
Cafe Au Lait Spots, Multiple 53 73
Multiple Café-Au-Lait Syndrome 59
Familial Café-Au-Lait Spots 59
Multiple Café-Au-Lait Spots 59
Neurofibromatosis Type 6 59
Nf6 59

Characteristics:

Orphanet epidemiological data:

59
neurofibromatosis type 6
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cafe-au-lait spots, multiple:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 114030
Orphanet 59 ORPHA2678
ICD10 via Orphanet 34 L81.3
UMLS via Orphanet 74 C1861975
MedGen 42 C1861975
SNOMED-CT via HPO 69 263681008
UMLS 73 C1861975

Summaries for Cafe-Au-Lait Spots, Multiple

MalaCards based summary : Cafe-Au-Lait Spots, Multiple, also known as multiple cafe-au-lait spots, is related to autosomal dominant café au lait spots and legius syndrome. An important gene associated with Cafe-Au-Lait Spots, Multiple is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Glioma and MAPK signaling pathway. Affiliated tissues include skin, and related phenotypes are multiple cafe-au-lait spots and freckling

Description from OMIM: 114030

Related Diseases for Cafe-Au-Lait Spots, Multiple

Diseases related to Cafe-Au-Lait Spots, Multiple via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant café au lait spots 11.7
2 legius syndrome 11.6
3 pulmonic stenosis 9.4 NF1 SOS1
4 noonan syndrome 1 9.3 NF1 SOS1
5 juvenile myelomonocytic leukemia 9.2 NF1 SOS1
6 trehalase deficiency 9.0 NF1 SOS1

Graphical network of the top 20 diseases related to Cafe-Au-Lait Spots, Multiple:



Diseases related to Cafe-Au-Lait Spots, Multiple

Symptoms & Phenotypes for Cafe-Au-Lait Spots, Multiple

Symptoms via clinical synopsis from OMIM:

57
Skin:
multiple cafe-au-lait spots
no neurofibromas

Eyes:
no lisch nodules of the iris


Clinical features from OMIM:

114030

Human phenotypes related to Cafe-Au-Lait Spots, Multiple:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple cafe-au-lait spots 59 32 very rare (1%) Very frequent (99-80%) HP:0007565
2 freckling 59 Occasional (29-5%)

GenomeRNAi Phenotypes related to Cafe-Au-Lait Spots, Multiple according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.28 SOS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.28 SOS1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.28 SOS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.28 SOS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.28 NF1 SOS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.28 NF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.28 NF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.28 NF1
9 Decreased cell migration GR00055-A-1 9.16 NF1 SOS1
10 Increased cell migration GR00055-A-3 8.96 NF1 SOS1

Drugs & Therapeutics for Cafe-Au-Lait Spots, Multiple

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Evaluation of NF1 and Scoliosis Patients Completed NCT01776125

Search NIH Clinical Center for Cafe-Au-Lait Spots, Multiple

Genetic Tests for Cafe-Au-Lait Spots, Multiple

Genetic tests related to Cafe-Au-Lait Spots, Multiple:

# Genetic test Affiliating Genes
1 Multiple Cafe-Au-Lait Spots 29

Anatomical Context for Cafe-Au-Lait Spots, Multiple

MalaCards organs/tissues related to Cafe-Au-Lait Spots, Multiple:

41
Skin

Publications for Cafe-Au-Lait Spots, Multiple

Articles related to Cafe-Au-Lait Spots, Multiple:

# Title Authors Year
1
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. ( 11809679 )
2002

Variations for Cafe-Au-Lait Spots, Multiple

ClinVar genetic disease variations for Cafe-Au-Lait Spots, Multiple:

6
(show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
2 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh38 Chromosome 17, 31258500: 31258500
3 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs397514641 GRCh37 Chromosome 17, 29497003: 29497003
4 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs397514641 GRCh38 Chromosome 17, 31169985: 31169985
5 SOS1 NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys) single nucleotide variant Uncertain significance rs730880218 GRCh37 Chromosome 2, 39250217: 39250217
6 SOS1 NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys) single nucleotide variant Uncertain significance rs730880218 GRCh38 Chromosome 2, 39023076: 39023076
7 NF1 NM_000267.3(NF1): c.4537C> T (p.Arg1513Ter) single nucleotide variant Pathogenic/Likely pathogenic rs760703505 GRCh37 Chromosome 17, 29588751: 29588751
8 NF1 NM_000267.3(NF1): c.4537C> T (p.Arg1513Ter) single nucleotide variant Pathogenic/Likely pathogenic rs760703505 GRCh38 Chromosome 17, 31261733: 31261733
9 46;X;t(X;18)(p11.4;q12.2)dn Translocation Uncertain significance
10 NF1 NM_000267.3(NF1): c.2446C> T (p.Arg816Ter) single nucleotide variant Pathogenic rs886041347 GRCh37 Chromosome 17, 29556079: 29556079
11 NF1 NM_000267.3(NF1): c.2446C> T (p.Arg816Ter) single nucleotide variant Pathogenic rs886041347 GRCh38 Chromosome 17, 31229061: 31229061
12 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh38 Chromosome 17, 31221932: 31221932
13 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh37 Chromosome 17, 29548950: 29548950
14 NF1 NM_001042492.2(NF1): c.2252-3T> G single nucleotide variant Likely pathogenic rs1057518842 GRCh37 Chromosome 17, 29554233: 29554233
15 NF1 NM_001042492.2(NF1): c.2252-3T> G single nucleotide variant Likely pathogenic rs1057518842 GRCh38 Chromosome 17, 31227215: 31227215
16 NF1 NM_001042492.2(NF1): c.2410-1G> A single nucleotide variant Pathogenic rs1057518792 GRCh37 Chromosome 17, 29556042: 29556042
17 NF1 NM_001042492.2(NF1): c.2410-1G> A single nucleotide variant Pathogenic rs1057518792 GRCh38 Chromosome 17, 31229024: 31229024
18 NF1 NM_001042492.2(NF1): c.6904C> T (p.Gln2302Ter) single nucleotide variant Pathogenic rs1057518807 GRCh37 Chromosome 17, 29665806: 29665806
19 NF1 NM_001042492.2(NF1): c.6904C> T (p.Gln2302Ter) single nucleotide variant Pathogenic rs1057518807 GRCh38 Chromosome 17, 31338788: 31338788
20 NF1 NM_000267.3(NF1): c.1721G> A (p.Ser574Asn) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 29548947: 29548947
21 NF1 NM_000267.3(NF1): c.1721G> A (p.Ser574Asn) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 31221929: 31221929
22 NF1 NM_000267.3(NF1): c.616_617insGG (p.Lys206Argfs) insertion Likely pathogenic GRCh38 Chromosome 17, 31181451: 31181452
23 NF1 NM_000267.3(NF1): c.616_617insGG (p.Lys206Argfs) insertion Likely pathogenic GRCh37 Chromosome 17, 29508469: 29508470
24 NF1 NM_001042492.2(NF1): c.3496+53T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 29559952: 29559952
25 NF1 NM_001042492.2(NF1): c.3496+53T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 31232934: 31232934
26 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 31258405: 31258405
27 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 29585423: 29585423
28 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 29652877: 29652877
29 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 31325859: 31325859
30 NF1 NM_000267.3(NF1): c.6046G> A (p.Ala2016Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 29663453: 29663453
31 NF1 NM_000267.3(NF1): c.6046G> A (p.Ala2016Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 31336435: 31336435
32 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic GRCh37 Chromosome 17, 29664900: 29664900
33 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic GRCh38 Chromosome 17, 31337882: 31337882
34 subset of 14 genes:NF1; RNF135 GRCh37/hg19 17q11.2(chr17: 29033882-30326958) copy number loss Pathogenic GRCh37 Chromosome 17, 29033882: 30326958
35 subset of 14 genes:NF1; RNF135 GRCh37/hg19 17q11.2(chr17: 29033882-30326958) copy number loss Pathogenic GRCh37 Chromosome 17, 29033882: 30326958

Expression for Cafe-Au-Lait Spots, Multiple

Search GEO for disease gene expression data for Cafe-Au-Lait Spots, Multiple.

Pathways for Cafe-Au-Lait Spots, Multiple

GO Terms for Cafe-Au-Lait Spots, Multiple

Biological processes related to Cafe-Au-Lait Spots, Multiple according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.26 NF1 SOS1
2 positive regulation of GTPase activity GO:0043547 9.16 NF1 SOS1
3 MAPK cascade GO:0000165 8.96 NF1 SOS1
4 Ras protein signal transduction GO:0007265 8.62 NF1 SOS1

Molecular functions related to Cafe-Au-Lait Spots, Multiple according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.62 NF1 SOS1

Sources for Cafe-Au-Lait Spots, Multiple

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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