NF6
MCID: CFL005
MIFTS: 33

Cafe-Au-Lait Spots, Multiple (NF6)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cafe-Au-Lait Spots, Multiple

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

Name: Cafe-Au-Lait Spots, Multiple 57 38
Cafe Au Lait Spots, Multiple 28 5 71
Multiple Cafe-Au-Lait Spots 19 58
Neurofibromatosis Type 6 19 58
Nf6 19 58
Autossomal Dominant Café-Au-Lait Spots 19
Multiple Cafe´-Au-Lait Syndrome 19
Multiple Cafe-Au-Lait Syndrome 58
Familial Cafe´-Au-Lait Spots 19
Multiple Cafe´-Au-Lait Spots 19
Multiple Café-Au-Lait Spots 19
Familial Cafe-Au-Lait Spots 58

Characteristics:


Inheritance:

Cafe-Au-Lait Spots, Multiple: Autosomal dominant 57
Neurofibromatosis Type 6: Autosomal dominant 58

Age Of Onset:

Neurofibromatosis Type 6: Childhood 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 114030
ICD10 via Orphanet 32 L81.3
UMLS via Orphanet 72 C1861975
Orphanet 58 ORPHA2678
MedGen 40 C1861975
SNOMED-CT via HPO 69 403536009 699225003
UMLS 71 C1861975

Summaries for Cafe-Au-Lait Spots, Multiple

GARD: 19 Neurofibromatosis 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.

MalaCards based summary: Cafe-Au-Lait Spots, Multiple, also known as cafe au lait spots, multiple, is related to neurofibromatosis-noonan syndrome and mismatch repair cancer syndrome 3. An important gene associated with Cafe-Au-Lait Spots, Multiple is NF1 (Neurofibromin 1). Affiliated tissues include skin, small intestine and retina, and related phenotypes are multiple cafe-au-lait spots and freckling

Orphanet: 58 Neurofibromatosis 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.

More information 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:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 11.7
2 mismatch repair cancer syndrome 3 11.5
3 hyperpigmentation with or without hypopigmentation, familial progressive 11.5
4 legius syndrome 11.5
5 neurofibromatosis 10.7
6 neurofibromatosis, type i 10.7
7 neurofibroma 10.5
8 cardiofaciocutaneous syndrome 1 10.3
9 lentigines 10.3
10 leopard syndrome 1 10.3
11 noonan syndrome 1 10.3
12 osseous heteroplasia, progressive 10.3
13 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
14 neural tube defects 10.3
15 chromosome 2q35 duplication syndrome 10.3
16 acrocraniofacial dysostosis 10.3
17 cryptorchidism, unilateral or bilateral 10.3
18 spondylocostal dysostosis 1, autosomal recessive 10.3
19 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.3
20 atrioventricular septal defect 10.3
21 mismatch repair cancer syndrome 2 10.3
22 lymphoma 10.3
23 fibrous dysplasia 10.3
24 familial woolly hair syndrome 10.3
25 meningocele 10.3
26 tethered spinal cord syndrome 10.3
27 leukemia 10.3
28 noonan syndrome with multiple lentigines 10.3
29 heart septal defect 10.3
30 dysostosis 10.3
31 lynch syndrome 10.3
32 hair disease 10.3
33 bap1 tumor predisposition syndrome 10.3
34 inherited cancer-predisposing syndrome 10.3
35 neurofibromatosis, type ii 9.9
36 mccune-albright syndrome 9.9
37 acoustic neuroma 9.9

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:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple cafe-au-lait spots 58 30 Very rare (1%) Very frequent (99-80%)
HP:0007565
2 freckling 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001480

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin:
multiple cafe-au-lait spots
no neurofibromas

Eyes:
no lisch nodules of the iris

Clinical features from OMIM®:

114030 (Updated 08-Dec-2022)

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

Search Clinical Trials, 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 Cafe Au Lait Spots, Multiple 28

Anatomical Context for Cafe-Au-Lait Spots, Multiple

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

MalaCards : Skin, Small Intestine, Retina, Thalamus, Colon, Uterus, Myeloid

Publications for Cafe-Au-Lait Spots, Multiple

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

(show top 50) (show all 146)
# Title Authors PMID Year
1
Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. 62 57
8357027 1993
2
Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. 62 57
8456833 1993
3
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum. 5
35024939 2022
4
Familial café au lait spots: a variant of neurofibromatosis type 1. 57
8825931 1995
5
Pathophysiology of neurofibromatosis. IV. Dermatologic insights into heterogeneity and pathogenesis. 57
6774000 1980
6
Diagnostic value of the café-au-lait spot in children. 57
4957366 1966
7
A novel NF1 mutation in a pediatric patient with renal artery aneurysm. 62
36411470 2022
8
An unusual case of pediatric embryonal rhabdomyosarcoma with subsequent diagnosis of neurofibromatosis type 1. 62
35504621 2022
9
Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report. 62
35801779 2022
10
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition. 62
34967012 2022
11
Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report. 62
35003457 2022
12
Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature. 62
34862352 2022
13
Endovascular Repair for Abdominal Aortic Aneurysm Rupture With Neurofibromatosis Type 1. 62
34648864 2022
14
Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1. 62
35463623 2022
15
Primary pilocytic astrocytoma of the cerebellopontine angle in pediatric patient with neurofibromatosis type 1: a case report. 62
36061231 2022
16
A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I. 62
34621910 2021
17
A Shepherd's Crook Deformity of Proximal Femur Treated by Valgus Osteotomy and Bone Grafting. 62
34430101 2021
18
A case of intramandibular neurofibroma resembling a radicular cyst in a neurofibromatosis type 1 patient. 62
33878668 2021
19
Glioblastoma in a female neurofibromatosis 1 patient without IDH1, BRAF V600E, and TERT promoter mutations: A case report. 62
33787635 2021
20
Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report. 62
31599855 2020
21
Neurofibromatosis type 1 associated with hypophosphatemic osteomalacia due to hypersecretion of fibroblast growth factor 23: a case report. 62
32384911 2020
22
[A Case of Neurofibromatosis Type 1 Presenting Voiding Symptoms Caused by Giant Bladder Diverticulum]. 62
31933336 2019
23
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. 62
30680470 2019
24
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes. 62
31798637 2019
25
Endovascular management of renal artery aneurysms induced by neurofibromatosis type 1: A case report. 62
29382000 2017
26
A Case of Retroperitoneal Malignant Triton Tumor in a Nigerian Boy. 62
29089742 2017
27
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia. 62
27980226 2017
28
Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot. 62
28523880 2017
29
Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2. 62
27958212 2016
30
Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1. 62
27469520 2016
31
Development of mediastinal lymphoma after radiotherapy for concurrent medulloblastoma and PNET in a patient with Gorlin syndrome. 62
27519263 2016
32
Zollinger-Ellison Syndrome Associated with von Recklinghausen Disease: Case Report and Literature Review. 62
27292293 2016
33
[Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1]. 62
27060315 2016
34
Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation. 62
26293676 2016
35
Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms. 62
26531733 2015
36
A rare case of neurofibromatosis - type 1. 62
26425173 2015
37
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 62
26056819 2015
38
Lumbar lipomeningomyelocele associated with multiple café au lait spots: a case report. 62
25786983 2015
39
Unusual histological variant of malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation. 62
25879014 2015
40
Legius syndrome: case report and review of literature. 62
25883013 2015
41
Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review. 62
26770321 2015
42
Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions. 62
25205021 2014
43
[A novel neurocutaneous syndrome: Legius syndrome. A case report]. 62
25156025 2014
44
Transoral removal of a large parapharyngeal space neurofibroma with the Harmonic Scalpel. 62
25025415 2014
45
Renal artery stenosis due to neurofibromatosis type 1: case report and literature review. 62
24678641 2014
46
Multiple café au lait spots in familial patients with MAP2K2 mutation. 62
24311457 2014
47
Laryngeal plexiform neurofibroma in a child. 62
23780601 2013
48
Multiple gastrointestinal stromal tumors and pheochromocytoma in a patient with von Recklinghausen's disease. 62
23287063 2013
49
Review and update of SPRED1 mutations causing Legius syndrome. 62
22753041 2012
50
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst. 62
22786748 2012

Variations for Cafe-Au-Lait Spots, Multiple

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

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 14 genes GRCh37/hg19 17q11.2(chr17:29033882-30326958) CN LOSS Pathogenic
523263 GRCh37: 17:29033882-30326958
GRCh38:
2 overlap with 14 genes GRCh37/hg19 17q11.2(chr17:29033882-30326958) CN LOSS Pathogenic
523264 GRCh37: 17:29033882-30326958
GRCh38:
3 NF1 NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter) SNV Pathogenic
523344 rs1555533285 GRCh37: 17:29652877-29652877
GRCh38: 17:31325859-31325859
4 NF1 NM_001042492.3(NF1):c.6704+2del DEL Pathogenic
523350 rs1555534929 GRCh37: 17:29664900-29664900
GRCh38: 17:31337882-31337882
5 NF1 NM_001042492.3(NF1):c.1721+3A>G SNV Pathogenic
Pathogenic
374108 rs1057518904 GRCh37: 17:29548950-29548950
GRCh38: 17:31221932-31221932
6 NF1 NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) DEL Pathogenic
803364 rs1597829906 GRCh37: 17:29653046-29653047
GRCh38: 17:31326028-31326029
7 NF1 NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter) SNV Pathogenic
489188 rs1555534677 GRCh37: 17:29663730-29663730
GRCh38: 17:31336712-31336712
8 NF1 NM_001042492.3(NF1):c.4183_4186del (p.Gln1395fs) DEL Pathogenic
1321312 GRCh37: 17:29585368-29585371
GRCh38: 17:31258350-31258353
9 NF1 NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic
280055 rs886041347 GRCh37: 17:29556079-29556079
GRCh38: 17:31229061-31229061
10 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic
336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
11 NF1 NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) SNV Pathogenic
431976 rs1555613206 GRCh37: 17:29548947-29548947
GRCh38: 17:31221929-31221929
12 NF1 NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) SNV Pathogenic
40093 rs397514641 GRCh37: 17:29497003-29497003
GRCh38: 17:31169985-31169985
13 NF1 NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) SNV Pathogenic
373973 rs1057518807 GRCh37: 17:29665806-29665806
GRCh38: 17:31338788-31338788
14 NF1 NM_001042492.3(NF1):c.2252-3T>G SNV Likely Pathogenic
374022 rs1057518842 GRCh37: 17:29554233-29554233
GRCh38: 17:31227215-31227215
15 NF1 NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) SNV Likely Pathogenic
523345 rs1555618516 GRCh37: 17:29585423-29585423
GRCh38: 17:31258405-31258405
16 NF1 NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) SNV Likely Pathogenic
220152 rs760703505 GRCh37: 17:29588751-29588751
GRCh38: 17:31261733-31261733
17 NF1 NM_001042492.3(NF1):c.2410-1G>A SNV Likely Pathogenic
373947 rs1057518792 GRCh37: 17:29556042-29556042
GRCh38: 17:31229024-31229024
18 NF1 NM_001042492.3(NF1):c.616_617insGG (p.Lys206fs) INSERT Likely Pathogenic
523349 rs1555608663 GRCh37: 17:29508469-29508470
GRCh38: 17:31181451-31181452
19 NF1 NM_001042492.3(NF1):c.3496+53T>C SNV Uncertain Significance
523397 rs1555614994 GRCh37: 17:29559952-29559952
GRCh38: 17:31232934-31232934
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_001042492.3(NF1):c.2800_2802del (p.Phe934del) DEL Uncertain Significance
560364 rs1567849174 GRCh37: 17:29556433-29556435
GRCh38: 17:31229415-31229417
22 NF1 NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr) SNV Uncertain Significance
523348 rs1555534612 GRCh37: 17:29663453-29663453
GRCh38: 17:31336435-31336435
23 SOS1 NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys) SNV Uncertain Significance
180531 rs730880218 GRCh37: 2:39250217-39250217
GRCh38: 2:39023076-39023076

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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