MCID: NRF016
MIFTS: 33

Neurofibromatosis, Familial Spinal

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurofibromatosis, Familial Spinal

MalaCards integrated aliases for Neurofibromatosis, Familial Spinal:

Name: Neurofibromatosis, Familial Spinal 54 29 13 69
Familial Spinal Neurofibromatosis 24 71
Fsnf 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
spinal tumors are necessary for diagnosis
other features of neurofibromatosis type i (nf1, ) may or may not be present
allelic disorder to nf1


HPO:

32
neurofibromatosis, familial spinal:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis, Familial Spinal

OMIM : 54
Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013). (162210)

MalaCards based summary : Neurofibromatosis, Familial Spinal, also known as familial spinal neurofibromatosis, is related to neurofibromatosis-noonan syndrome and pediatric fibrosarcoma, and has symptoms including freckling, paraparesis and lower limb muscle weakness. An important gene associated with Neurofibromatosis, Familial Spinal is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Neuroscience and Glioblastoma Multiforme. Affiliated tissues include spinal cord, and related phenotypes are Decreased cell migration and Increased cell migration

UniProtKB/Swiss-Prot : 71 Familial spinal neurofibromatosis: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.

Related Diseases for Neurofibromatosis, Familial Spinal

Graphical network of the top 20 diseases related to Neurofibromatosis, Familial Spinal:



Diseases related to Neurofibromatosis, Familial Spinal

Symptoms & Phenotypes for Neurofibromatosis, Familial Spinal

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
paraparesis
lower extremity weakness
spinal nerve root neurofibromas, symmetric, multiple
neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels

Skin Nails & Hair- Skin:
neurofibromas may or may not be present
cafe-au-lait spots may or may not be present
freckling may or may not be present

Head And Neck- Eyes:
lisch nodules (iris hamartomas) may or may not be present


Clinical features from OMIM:

162210

Human phenotypes related to Neurofibromatosis, Familial Spinal:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 freckling 32 HP:0001480
2 paraparesis 32 HP:0002385
3 lower limb muscle weakness 32 HP:0007340
4 lisch nodules 32 HP:0009737
5 spinal cord tumor 32 obligate (100%) HP:0010302
6 cafe-au-lait spot 32 HP:0000957
7 symmetric spinal nerve root neurofibromas 32 HP:0006851

UMLS symptoms related to Neurofibromatosis, Familial Spinal:


paraparesis, lower limb muscle weakness

GenomeRNAi Phenotypes related to Neurofibromatosis, Familial Spinal according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.96 NF1 NF2
2 Increased cell migration GR00055-A-3 8.62 NF1 NF2

Drugs & Therapeutics for Neurofibromatosis, Familial Spinal

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1) Active, not recruiting NCT00111384

Search NIH Clinical Center for Neurofibromatosis, Familial Spinal

Genetic Tests for Neurofibromatosis, Familial Spinal

Genetic tests related to Neurofibromatosis, Familial Spinal:

id Genetic test Affiliating Genes
1 Neurofibromatosis, Familial Spinal 29
2 Familial Spinal Neurofibromatosis 24 NF1

Anatomical Context for Neurofibromatosis, Familial Spinal

MalaCards organs/tissues related to Neurofibromatosis, Familial Spinal:

39
Spinal Cord

Publications for Neurofibromatosis, Familial Spinal

Variations for Neurofibromatosis, Familial Spinal

UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis, Familial Spinal:

71
id Symbol AA change Variation ID SNP ID
1 NF1 p.Leu2088Pro VAR_017669 rs137854561

ClinVar genetic disease variations for Neurofibromatosis, Familial Spinal:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.8042dupA (p.Tyr2681Terfs) duplication Pathogenic rs267606601 GRCh37 Chromosome 17, 29685632: 29685632
2 NF1 NM_000267.3(NF1): c.6200T> C (p.Leu2067Pro) single nucleotide variant Pathogenic rs137854561 GRCh37 Chromosome 17, 29663768: 29663768
3 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
4 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh37 Chromosome 17, 29528062: 29528062
5 NF1 NM_000267.3(NF1): c.7126+3A> C single nucleotide variant Pathogenic rs267606610 GRCh37 Chromosome 17, 29670156: 29670156

Expression for Neurofibromatosis, Familial Spinal

Search GEO for disease gene expression data for Neurofibromatosis, Familial Spinal.

Pathways for Neurofibromatosis, Familial Spinal

Pathways related to Neurofibromatosis, Familial Spinal according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.47 NF1 NF2
2 10.67 NF1 NF2

GO Terms for Neurofibromatosis, Familial Spinal

Biological processes related to Neurofibromatosis, Familial Spinal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.43 NF1 NF2
2 brain development GO:0007420 9.4 NF1 NF2
3 regulation of cell proliferation GO:0042127 9.37 NF1 NF2
4 actin cytoskeleton organization GO:0030036 9.32 NF1 NF2
5 negative regulation of cell migration GO:0030336 9.26 NF1 NF2
6 negative regulation of protein kinase activity GO:0006469 9.16 NF1 NF2
7 negative regulation of MAPK cascade GO:0043409 8.96 NF1 NF2
8 negative regulation of cell-matrix adhesion GO:0001953 8.62 NF1 NF2

Sources for Neurofibromatosis, Familial Spinal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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