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NF6
MCID: ATS270
MIFTS: 27
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Autosomal Dominant Café Au Lait Spots (NF6)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Autosomal Dominant Café Au Lait Spots:
Name: Autosomal Dominant Café Au Lait Spots
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Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Skin diseases Neuronal diseases |
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NIH Rare Diseases
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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 neurofibromatosis type 6, is related to cafe-au-lait spots, multiple and pulmonary valve disease. An important gene associated with Autosomal Dominant Café Au Lait Spots is SPRED1 (Sprouty Related EVH1 Domain Containing 1), and among its related pathways/superpathways are Innate Immune System and Developmental Biology. Affiliated tissues include skin, bone and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2) |
GenomeRNAi Phenotypes related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:26 (show all 12)
MGI Mouse Phenotypes related to Autosomal Dominant Café Au Lait Spots:46
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Genetic tests related to Autosomal Dominant Café Au Lait Spots:
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MalaCards organs/tissues related to Autosomal Dominant Café Au Lait Spots:41
Skin,
Bone,
Brain,
Bone Marrow
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Articles related to Autosomal Dominant Café Au Lait Spots:
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Genes related to Autosomal Dominant Café Au Lait Spots (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Autosomal Dominant Café Au Lait Spots.
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Pathways related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:
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Biological processes related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:
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