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NF6
MCID: CFL005
MIFTS: 28

Cafe-Au-Lait Spots, Multiple (NF6)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Cafe-Au-Lait Spots, Multiple

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

Name: Cafe-Au-Lait Spots, Multiple 57 39
Neurofibromatosis Type 6 20 58 29 6
Multiple Cafe-Au-Lait Spots 20 58
Nf6 20 58
Autossomal Dominant Café-Au-Lait Spots 20
Multiple Cafe´-Au-Lait Syndrome 20
Multiple Cafe-Au-Lait Syndrome 58
Familial Cafe´-Au-Lait Spots 20
Multiple Cafe´-Au-Lait Spots 20
Cafe Au Lait Spots, Multiple 70
Multiple Café-Au-Lait Spots 20
Familial Cafe-Au-Lait Spots 58

Characteristics:

Orphanet epidemiological data:

58
neurofibromatosis type 6
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cafe-au-lait spots, multiple:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Skin diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 114030
ICD10 via Orphanet 33 L81.3
UMLS via Orphanet 71 C1861975
Orphanet 58 ORPHA2678
MedGen 41 C1861975
SNOMED-CT via HPO 68 263681008 403536009 699225003
UMLS 70 C1861975
Sources

Summaries for Cafe-Au-Lait Spots, Multiple

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2678 Definition Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Epidemiology Prevalence is unknown, but the disease appears to be extremely rare. Clinical description The 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. Etiology The etiology of NF6 remains unknown. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Diagnostic methods The diagnosis is based on the presence of six or more CAL macules. Differential diagnosis Differential diagnoses include neurofibromatosis type 1, McCune-Albright syndrome, and tuberous sclerosis (see these terms). Genetic counseling Transmission is autosomal dominant. Management and treatment Isolated CAL lesions do not require medical care. Prognosis CAL spots are benign and may resolve with age.

MalaCards based summary : Cafe-Au-Lait Spots, Multiple, also known as neurofibromatosis type 6, is related to legius syndrome and neurofibromatosis, type i. An important gene associated with Cafe-Au-Lait Spots, Multiple is NF1 (Neurofibromin 1). Affiliated tissues include spinal cord and heart, and related phenotypes are multiple cafe-au-lait spots and freckling

More information from OMIM: 114030
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Related Diseases for Cafe-Au-Lait Spots, Multiple

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 legius syndrome 11.5
2 neurofibromatosis, type i 11.5
3 mismatch repair cancer syndrome 3 11.5
4 neurofibromatosis 10.7
5 neurofibroma 10.5
6 lynch syndrome i 10.3
7 lentigines 10.3
8 noonan syndrome 1 10.3
9 chromosome 2q35 duplication syndrome 10.3
10 acrocraniofacial dysostosis 10.3
11 cryptorchidism, unilateral or bilateral 10.3
12 neurofibromatosis-noonan syndrome 10.3
13 atrioventricular septal defect 10.3
14 tumor predisposition syndrome 10.3
15 cutaneous telangiectasia and cancer syndrome, familial 10.3
16 mismatch repair cancer syndrome 2 10.3
17 fibrous dysplasia 10.3
18 familial woolly hair syndrome 10.3
19 tethered spinal cord syndrome 10.3
20 leukemia 10.3
21 heart septal defect 10.3
22 dysostosis 10.3
23 lynch syndrome 10.3
24 pseudo-turner syndrome 10.3
25 inherited cancer-predisposing syndrome 10.3
26 46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect 10.3
27 mccune-albright syndrome 9.9

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



Diseases related to Cafe-Au-Lait Spots, Multiple
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Symptoms & Phenotypes for Cafe-Au-Lait Spots, Multiple

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

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple cafe-au-lait spots 58 31 very rare (1%) Very frequent (99-80%) HP:0007565
2 freckling 58 31 occasional (7.5%) Occasional (29-5%) HP:0001480

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
multiple cafe-au-lait spots
no neurofibromas

Eyes:
no lisch nodules of the iris

Clinical features from OMIM®:

114030 (Updated 20-May-2021)

Sources

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

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

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Genetic Tests for Cafe-Au-Lait Spots, Multiple

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

# Genetic test Affiliating Genes
1 Neurofibromatosis Type 6 29
Sources

Anatomical Context for Cafe-Au-Lait Spots, Multiple

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

40
Spinal Cord, Heart
Sources

Publications for Cafe-Au-Lait Spots, Multiple

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

# Title Authors PMID Year
1
Familial café au lait spots: a variant of neurofibromatosis type 1. 57
8825931 1995
2
Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. 57
8357027 1993
3
Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. 57
8456833 1993
4
Pathophysiology of neurofibromatosis. IV. Dermatologic insights into heterogeneity and pathogenesis. 57
6774000 1980
5
Diagnostic value of the café-au-lait spot in children. 57
4957366 1966
6
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes. 61
31798637 2019
7
Multiple or familial café-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis. 61
22630574 2012
8
Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome? 61
9122064 1996
Sources

Variations for Cafe-Au-Lait Spots, Multiple

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

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 14 genes GRCh37/hg19 17q11.2(chr17:29033882-30326958) copy number loss Pathogenic 523263 GRCh37: 17:29033882-30326958
GRCh38:
2 overlap with 14 genes GRCh37/hg19 17q11.2(chr17:29033882-30326958) copy number loss Pathogenic 523264 GRCh37: 17:29033882-30326958
GRCh38:
3 NF1 NM_000267.3(NF1):c.1721+3A>G SNV Pathogenic 374108 rs1057518904 GRCh37: 17:29548950-29548950
GRCh38: 17:31221932-31221932
4 NF1 NM_000267.3(NF1):c.4812C>G (p.Tyr1604Ter) SNV Pathogenic 523344 rs1555533285 GRCh37: 17:29652877-29652877
GRCh38: 17:31325859-31325859
5 NF1 NM_000267.3(NF1):c.1721+3A>G SNV Pathogenic 374108 rs1057518904 GRCh37: 17:29548950-29548950
GRCh38: 17:31221932-31221932
6 NF1 NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic 280055 rs886041347 GRCh37: 17:29556079-29556079
GRCh38: 17:31229061-31229061
7 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic 336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
8 NF1 NM_000267.3(NF1):c.6641+2del Deletion Pathogenic 523350 rs1555534929 GRCh37: 17:29664900-29664900
GRCh38: 17:31337882-31337882
9 NF1 NM_000267.3(NF1):c.574C>T (p.Arg192Ter) SNV Pathogenic 40093 rs397514641 GRCh37: 17:29497003-29497003
GRCh38: 17:31169985-31169985
10 NF1 NM_000267.3(NF1):c.6841C>T (p.Gln2281Ter) SNV Pathogenic 373973 rs1057518807 GRCh37: 17:29665806-29665806
GRCh38: 17:31338788-31338788
11 NF1 NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) SNV Pathogenic 431976 rs1555613206 GRCh37: 17:29548947-29548947
GRCh38: 17:31221929-31221929
12 NF1 NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) SNV Likely pathogenic 523345 rs1555618516 GRCh37: 17:29585423-29585423
GRCh38: 17:31258405-31258405
13 NF1 NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) SNV Likely pathogenic 220152 rs760703505 GRCh37: 17:29588751-29588751
GRCh38: 17:31261733-31261733
14 NF1 NM_000267.3(NF1):c.616_617insGG (p.Lys206fs) Insertion Likely pathogenic 523349 rs1555608663 GRCh37: 17:29508469-29508470
GRCh38: 17:31181451-31181452
15 NF1 NM_000267.3(NF1):c.2410-1G>A SNV Likely pathogenic 373947 rs1057518792 GRCh37: 17:29556042-29556042
GRCh38: 17:31229024-31229024
16 NF1 NM_000267.3(NF1):c.2252-3T>G SNV Likely pathogenic 374022 rs1057518842 GRCh37: 17:29554233-29554233
GRCh38: 17:31227215-31227215
17 NF1 NM_000267.3(NF1):c.6046G>A (p.Ala2016Thr) SNV Uncertain significance 523348 rs1555534612 GRCh37: 17:29663453-29663453
GRCh38: 17:31336435-31336435
18 SOS1 NM_005633.3(SOS1):c.1352C>A (p.Thr451Lys) SNV Uncertain significance 180531 rs730880218 GRCh37: 2:39250217-39250217
GRCh38: 2:39023076-39023076
19 NF1 NM_000267.3(NF1):c.2800_2802del (p.Phe934del) Deletion Uncertain significance 560364 rs1567849174 GRCh37: 17:29556433-29556435
GRCh38: 17:31229415-31229417
20 NF1 NM_001042492.3(NF1):c.989C>A (p.Ala330Glu) SNV Uncertain significance 560363 rs1555610898 GRCh37: 17:29527540-29527540
GRCh38: 17:31200522-31200522
21 NF1 NM_000267.3(NF1):c.3496+53T>C SNV Uncertain significance 523397 rs1555614994 GRCh37: 17:29559952-29559952
GRCh38: 17:31232934-31232934
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Expression for Cafe-Au-Lait Spots, Multiple

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

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GO Terms for Cafe-Au-Lait Spots, Multiple

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Sources for Cafe-Au-Lait Spots, Multiple

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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