MCID: ATS270
MIFTS: 30

Autosomal Dominant Café Au Lait Spots

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
Multiple Cafe-Au-Lait Spots 54 30 6
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 multiple cafe-au-lait spots, is related to legius syndrome and neurofibromatosis, type iv, of riccardi. An important gene associated with Autosomal Dominant Café Au Lait Spots is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Innate Immune System and Developmental Biology. Affiliated tissues include skin, and 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 17)
# Related Disease Score Top Affiliating Genes
1 legius syndrome 31.3 NF1 PTPN11 SPRED1 SPRED2
2 neurofibromatosis, type iv, of riccardi 29.4 NF1 PTPN11
3 cafe-au-lait spots, multiple 11.8
4 noonan syndrome 1 10.4
5 pseudo-turner syndrome 10.4
6 neurofibromatosis-noonan syndrome 9.9 NF1 PTPN11
7 myelodysplastic myeloproliferative cancer 9.9 NF1 PTPN11
8 leopard syndrome 9.9 NF1 PTPN11
9 pulmonic stenosis 9.9 NF1 PTPN11
10 plexiform neurofibroma 9.8 NF1 SPRED1
11 scoliosis 9.8 NF1 PTPN11
12 neurilemmomatosis 9.8 NF1 SPRED1
13 pulmonary valve disease 9.7 PTPN11 SPRED1
14 chronic myelomonocytic leukemia 9.7 NF1 PTPN11
15 cardiofaciocutaneous syndrome 1 9.7 PTPN11 SPRED1
16 bone marrow cancer 9.6 NF1 PTPN11
17 juvenile myelomonocytic leukemia 9.5 NF1 PTPN11 SPRED1

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

Interventional clinical trials:


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

Search 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 Multiple Cafe-Au-Lait Spots 30
2 Neurofibromatosis Type 6 30

Anatomical Context for Autosomal Dominant Café Au Lait Spots

MalaCards organs/tissues related to Autosomal Dominant Café Au Lait Spots:

42
Skin

Publications for Autosomal Dominant Café Au Lait Spots

Articles related to Autosomal Dominant Café Au Lait Spots:

(show all 12)
# 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
Multiple café au lait spots in familial patients with MAP2K2 mutation. ( 24311457 )
2014
4
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. ( 19120036 )
2009
5
Diagnostic and management considerations posed by multiple café au lait spots. ( 19687427 )
2009
6
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. ( 11809679 )
2002
7
Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? ( 11424146 )
2001
8
Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly. ( 7761159 )
1995
9
Familial multiple cafe au lait spots. ( 7979446 )
1994
10
Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. ( 8456833 )
1993
11
Diagnostic outcome in children with multiple café au lait spots. ( 1344978 )
1992
12
Birthmarks with serious medical significance: nevocullular nevi, sebaceous nevi, and multiple café au lait spots. ( 114614 )
1979

Variations for Autosomal Dominant Café Au Lait Spots

ClinVar genetic disease variations for Autosomal Dominant Café Au Lait Spots:

6 (show all 39)
# 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 rs1555613206 GRCh37 Chromosome 17, 29548947: 29548947
21 NF1 NM_000267.3(NF1): c.1721G> A (p.Ser574Asn) single nucleotide variant Pathogenic/Likely pathogenic rs1555613206 GRCh38 Chromosome 17, 31221929: 31221929
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 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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