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FSNF
MCID: NRF016
MIFTS: 32

Neurofibromatosis, Familial Spinal (FSNF)

Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Neurofibromatosis, Familial Spinal

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MalaCards integrated aliases for Neurofibromatosis, Familial Spinal:

Name: Neurofibromatosis, Familial Spinal 57 29 13 6 40 73
Fsnf 57 75
Familial Spinal Neurofibromatosis 75

Characteristics:

OMIM:

57
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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Neurofibromatosis, Familial Spinal

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OMIM : 57 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 fsnf, is related to neurofibroma and plexiform schwannoma, and has symptoms including paraparesis An important gene associated with Neurofibromatosis, Familial Spinal is NF1 (Neurofibromin 1), and among its related pathways/superpathways is Glioblastoma Multiforme. Affiliated tissues include spinal cord, and related phenotypes are lower limb muscle weakness and spinal cord tumor

UniProtKB/Swiss-Prot : 75 Familial spinal neurofibromatosis: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.

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Related Diseases for Neurofibromatosis, Familial Spinal

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Diseases related to Neurofibromatosis, Familial Spinal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 10.0 NF2 NF1
2 plexiform schwannoma 10.0 NF2 NF1
3 atypical neurofibroma 10.0 NF2 NF1
4 plexiform neurofibroma 10.0 NF2 NF1
5 neurofibrosarcoma 10.0 NF2 NF1
6 immature cataract 10.0 NF2 NF1
7 amyloid tumor 10.0 NF2 NF1
8 neurilemmoma 10.0 NF2 NF1
9 neurilemmoma of the fifth cranial nerve 10.0 NF2 NF1
10 trigeminal nerve neoplasm 10.0 NF2 NF1
11 spinal canal and spinal cord meningioma 10.0 NF2 NF1
12 spinal meningioma 10.0 NF2 NF1
13 neurilemmomatosis 10.0 NF2 NF1
14 optic nerve neoplasm 10.0 NF2 NF1
15 acoustic neuroma 10.0 NF2 NF1
16 nervous system benign neoplasm 10.0 NF2 NF1
17 cellular schwannoma 10.0 NF2 NF1
18 neurofibromatosis, type ii 10.0 NF2 NF1
19 peripheral nervous system neoplasm 10.0 NF2 NF1
20 central nervous system cancer 10.0 NF2 NF1
21 nervous system cancer 9.9 NF2 NF1
22 neurofibromatosis, type iv, of riccardi 9.9 NF2 NF1
23 malignant peripheral nerve sheath tumor 9.9 NF2 NF1
24 autosomal genetic disease 9.9 NF2 NF1
25 meningioma, familial 9.8 NF2 NF1
26 neurofibromatosis, type i 9.8
27 neurofibromatosis-noonan syndrome 9.7 NF1 MIR4733 LOC105371722

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



Diseases related to Neurofibromatosis, Familial Spinal
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Symptoms & Phenotypes for Neurofibromatosis, Familial Spinal

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
paraparesis
spinal nerve root neurofibromas, symmetric, multiple
neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels
lower extremity weakness

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

UMLS symptoms related to Neurofibromatosis, Familial Spinal:


paraparesis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 8.62 NF1 NF2
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Drugs & Therapeutics for Neurofibromatosis, Familial Spinal

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Search Clinical Trials , NIH Clinical Center for Neurofibromatosis, Familial Spinal

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Genetic Tests for Neurofibromatosis, Familial Spinal

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Genetic tests related to Neurofibromatosis, Familial Spinal:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Familial Spinal 29 NF1
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Anatomical Context for Neurofibromatosis, Familial Spinal

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MalaCards organs/tissues related to Neurofibromatosis, Familial Spinal:

41
Spinal Cord
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Publications for Neurofibromatosis, Familial Spinal

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Articles related to Neurofibromatosis, Familial Spinal:

# Title Authors Year
1
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. ( 21365283 )
2011
2
Neurological pictures. Familial spinal neurofibromatosis: three generations of identical level symptomatic tumours. ( 20547631 )
2010
3
Familial spinal neurofibromatosis. ( 17712740 )
2007
4
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. ( 9529361 )
1998
5
Familial spinal neurofibromatosis: clinical and DNA linkage analysis. ( 1745350 )
1991
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Variations for Neurofibromatosis, Familial Spinal

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

75
# Symbol AA change Variation ID SNP ID
1 NF1 p.Leu2088Pro VAR_017669 rs137854561

ClinVar genetic disease variations for Neurofibromatosis, Familial Spinal:

6 (show top 50) (show all 188)
# 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.8042dupA (p.Tyr2681Terfs) duplication Pathogenic rs267606601 GRCh38 Chromosome 17, 31358614: 31358614
3 NF1 NM_000267.3(NF1): c.6200T> C (p.Leu2067Pro) single nucleotide variant Pathogenic rs137854561 GRCh37 Chromosome 17, 29663768: 29663768
4 NF1 NM_000267.3(NF1): c.6200T> C (p.Leu2067Pro) single nucleotide variant Pathogenic rs137854561 GRCh38 Chromosome 17, 31336750: 31336750
5 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
6 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh38 Chromosome 17, 31336328: 31336328
7 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh37 Chromosome 17, 29528062: 29528062
8 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh38 Chromosome 17, 31201044: 31201044
9 NF1 NM_000267.3(NF1): c.7126+3A> C single nucleotide variant Pathogenic rs267606610 GRCh37 Chromosome 17, 29670156: 29670156
10 NF1 NM_000267.3(NF1): c.7126+3A> C single nucleotide variant Pathogenic rs267606610 GRCh38 Chromosome 17, 31343138: 31343138
11 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh37 Chromosome 17, 29653037: 29653037
12 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh38 Chromosome 17, 31326019: 31326019
13 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh37 Chromosome 17, 29496957: 29496957
14 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh38 Chromosome 17, 31169939: 31169939
15 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh37 Chromosome 17, 29685632: 29685632
16 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh38 Chromosome 17, 31358614: 31358614
17 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh38 Chromosome 17, 31225182: 31225182
18 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh37 Chromosome 17, 29552200: 29552200
19 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh37 Chromosome 17, 29686024: 29686024
20 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh38 Chromosome 17, 31359006: 31359006
21 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh37 Chromosome 17, 29490255: 29490255
22 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh38 Chromosome 17, 31163237: 31163237
23 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh37 Chromosome 17, 29684006: 29684006
24 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh38 Chromosome 17, 31356988: 31356988
25 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh37 Chromosome 17, 29654761: 29654761
26 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh38 Chromosome 17, 31327743: 31327743
27 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
28 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
29 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
30 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
31 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
32 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757
33 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh37 Chromosome 17, 29509641: 29509641
34 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh38 Chromosome 17, 31182623: 31182623
35 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
36 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
37 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh37 Chromosome 17, 29553485: 29553485
38 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh38 Chromosome 17, 31226467: 31226467
39 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh37 Chromosome 17, 29556177: 29556177
40 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh38 Chromosome 17, 31229159: 31229159
41 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh37 Chromosome 17, 29562948: 29562948
42 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh38 Chromosome 17, 31235930: 31235930
43 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh37 Chromosome 17, 29592271: 29592271
44 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh38 Chromosome 17, 31265253: 31265253
45 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh37 Chromosome 17, 29652853: 29652853
46 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh38 Chromosome 17, 31325835: 31325835
47 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh37 Chromosome 17, 29652884: 29652884
48 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh38 Chromosome 17, 31325866: 31325866
49 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh37 Chromosome 17, 29652931: 29652931
50 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh38 Chromosome 17, 31325913: 31325913
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Expression for Neurofibromatosis, Familial Spinal

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

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

# Super pathways Score Top Affiliating Genes
1
Glioblastoma Multiforme 64
10.67 NF1 NF2
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GO Terms for Neurofibromatosis, Familial Spinal

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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