NF6
MCID: CFL005
MIFTS: 24

Cafe-Au-Lait Spots, Multiple (NF6)

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

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

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

Name: Cafe-Au-Lait Spots, Multiple 58 41
Multiple Cafe-Au-Lait Spots 54 30 6
Cafe Au Lait Spots, Multiple 54 74
Multiple Café-Au-Lait Syndrome 60
Familial Café-Au-Lait Spots 60
Multiple Café-Au-Lait Spots 60
Neurofibromatosis Type 6 60
Nf6 60

Characteristics:

Orphanet epidemiological data:

60
neurofibromatosis type 6
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cafe-au-lait spots, multiple:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 114030
ICD10 via Orphanet 35 L81.3
UMLS via Orphanet 75 C1861975
Orphanet 60 ORPHA2678
MedGen 43 C1861975
SNOMED-CT via HPO 70 263681008 403536009 699225003
UMLS 74 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 neurofibromatosis, type i and neurofibromatosis, type iv, of riccardi. An important gene associated with Cafe-Au-Lait Spots, Multiple is NF1 (Neurofibromin 1). 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 in the Cafe-Au-Lait Spots, Multiple family:

Autosomal Dominant Café Au Lait Spots

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 neurofibromatosis, type i 12.0
2 neurofibromatosis, type iv, of riccardi 12.0
3 autosomal dominant café au lait spots 11.7
4 legius syndrome 11.7
5 woolly hair syndrome 10.4

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

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

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple cafe-au-lait spots 60 33 very rare (1%) Very frequent (99-80%) HP:0007565
2 freckling 60 33 occasional (7.5%) Occasional (29-5%) HP:0001480

Symptoms via clinical synopsis from OMIM:

58
Skin:
multiple cafe-au-lait spots
no neurofibromas

Eyes:
no lisch nodules of the iris

Clinical features from OMIM:

114030

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 30

Anatomical Context for Cafe-Au-Lait Spots, Multiple

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

42
Skin

Publications for Cafe-Au-Lait Spots, Multiple

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

# Title Authors Year
1
Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1. ( 27469520 )
2016
2
Lumbar lipomeningomyelocele associated with multiple café au lait spots: a case report. ( 25786983 )
2015
3
Diagnostic and management considerations posed by multiple café au lait spots. ( 19687427 )
2009
4
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. ( 11809679 )
2002
5
Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly. ( 7761159 )
1995
6
Familial multiple cafe au lait spots. ( 7979446 )
1994
7
Diagnostic outcome in children with multiple café au lait spots. ( 1344978 )
1992
8
Birthmarks with serious medical significance: nevocullular nevi, sebaceous nevi, and multiple café au lait spots. ( 114614 )
1979

Variations for Cafe-Au-Lait Spots, Multiple

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

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOS1 NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys) single nucleotide variant Uncertain significance rs730880218 GRCh37 Chromosome 2, 39250217: 39250217
2 SOS1 NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys) single nucleotide variant Uncertain significance rs730880218 GRCh38 Chromosome 2, 39023076: 39023076
3 NF1 NM_000267.3(NF1): c.4537C> T (p.Arg1513Ter) single nucleotide variant Pathogenic/Likely pathogenic rs760703505 GRCh37 Chromosome 17, 29588751: 29588751
4 NF1 NM_000267.3(NF1): c.4537C> T (p.Arg1513Ter) single nucleotide variant Pathogenic/Likely pathogenic rs760703505 GRCh38 Chromosome 17, 31261733: 31261733
5 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
6 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh38 Chromosome 17, 31258500: 31258500
7 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs397514641 GRCh37 Chromosome 17, 29497003: 29497003
8 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs397514641 GRCh38 Chromosome 17, 31169985: 31169985
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 rs1555613206 GRCh38 Chromosome 17, 31221929: 31221929
21 NF1 NM_000267.3(NF1): c.1721G> A (p.Ser574Asn) single nucleotide variant Pathogenic/Likely pathogenic rs1555613206 GRCh37 Chromosome 17, 29548947: 29548947
22 NF1 NM_000267.3(NF1): c.616_617insGG (p.Lys206Argfs) insertion Likely pathogenic rs1555608663 GRCh38 Chromosome 17, 31181451: 31181452
23 NF1 NM_000267.3(NF1): c.616_617insGG (p.Lys206Argfs) insertion Likely pathogenic rs1555608663 GRCh37 Chromosome 17, 29508469: 29508470
24 NF1 NM_001042492.2(NF1): c.3496+53T> C single nucleotide variant Uncertain significance rs1555614994 GRCh37 Chromosome 17, 29559952: 29559952
25 NF1 NM_001042492.2(NF1): c.3496+53T> C single nucleotide variant Uncertain significance rs1555614994 GRCh38 Chromosome 17, 31232934: 31232934
26 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555618516 GRCh38 Chromosome 17, 31258405: 31258405
27 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555618516 GRCh37 Chromosome 17, 29585423: 29585423
28 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic rs1555533285 GRCh37 Chromosome 17, 29652877: 29652877
29 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic rs1555533285 GRCh38 Chromosome 17, 31325859: 31325859
30 NF1 NM_000267.3(NF1): c.6046G> A (p.Ala2016Thr) single nucleotide variant Uncertain significance rs1555534612 GRCh37 Chromosome 17, 29663453: 29663453
31 NF1 NM_000267.3(NF1): c.6046G> A (p.Ala2016Thr) single nucleotide variant Uncertain significance rs1555534612 GRCh38 Chromosome 17, 31336435: 31336435
32 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic rs1555534929 GRCh37 Chromosome 17, 29664900: 29664900
33 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic rs1555534929 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
36 NF1 NM_001042492.2(NF1): c.989C> A (p.Ala330Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 31200522: 31200522
37 NF1 NM_001042492.2(NF1): c.989C> A (p.Ala330Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 29527540: 29527540
38 NF1 NM_001042492.2(NF1): c.2800_2802del (p.Phe934del) deletion Uncertain significance GRCh38 Chromosome 17, 31229415: 31229417
39 NF1 NM_001042492.2(NF1): c.2800_2802del (p.Phe934del) deletion Uncertain significance GRCh37 Chromosome 17, 29556433: 29556435

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

Sources for Cafe-Au-Lait Spots, Multiple

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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