FSNF
MCID: NRF016
MIFTS: 33

Neurofibromatosis, Familial Spinal (FSNF)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurofibromatosis, Familial Spinal

MalaCards integrated aliases for Neurofibromatosis, Familial Spinal:

Name: Neurofibromatosis, Familial Spinal 58 30 13 6 41 74
Fsnf 58 76
Familial Spinal Neurofibromatosis 76

Characteristics:

OMIM:

58
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:

33
neurofibromatosis, familial spinal:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis, Familial Spinal

OMIM : 58 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 neurofibromatosis, type iv, of riccardi and neurofibroma, 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 testes, and related phenotypes are spinal cord tumor and lower limb muscle weakness

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Neurofibromatosis, Familial Spinal:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spinal cord tumor 33 obligate (100%) HP:0010302
2 lower limb muscle weakness 33 HP:0007340
3 freckling 33 HP:0001480
4 cafe-au-lait spot 33 HP:0000957
5 paraparesis 33 HP:0002385
6 symmetric spinal nerve root neurofibromas 33 HP:0006851
7 lisch nodules 33 HP:0009737

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Neurofibromatosis, Familial Spinal:


paraparesis

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 8.62 NF1 NF2

Drugs & Therapeutics for Neurofibromatosis, Familial Spinal

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

Genetic Tests for Neurofibromatosis, Familial Spinal

Genetic tests related to Neurofibromatosis, Familial Spinal:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Familial Spinal 30 NF1

Anatomical Context for Neurofibromatosis, Familial Spinal

MalaCards organs/tissues related to Neurofibromatosis, Familial Spinal:

42
Spinal Cord, Testes

Publications for Neurofibromatosis, Familial Spinal

Articles related to Neurofibromatosis, Familial Spinal:

(show all 14)
# Title Authors Year
1
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. ( 24893135 )
2014
2
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721 )
2014
3
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. ( 21365283 )
2011
4
Neurological pictures. Familial spinal neurofibromatosis: three generations of identical level symptomatic tumours. ( 20547631 )
2010
5
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ( 20065170 )
2010
6
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. ( 17636453 )
2007
7
Familial spinal neurofibromatosis. ( 17712740 )
2007
8
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. ( 15604628 )
2004
9
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. ( 11704931 )
2001
10
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. ( 10712197 )
2000
11
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. ( 10862084 )
2000
12
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. ( 9529361 )
1998
13
Hereditary spinal neurofibromatosis: a rare form of NF1? ( 9132486 )
1997
14
Familial spinal neurofibromatosis: clinical and DNA linkage analysis. ( 1745350 )
1991

Variations for Neurofibromatosis, Familial Spinal

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

76
# 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 256)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
2 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh38 Chromosome 17, 31258500: 31258500
3 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
4 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh38 Chromosome 17, 31334927: 31334927
5 NF1 NM_000267.3(NF1): c.8042dupA (p.Tyr2681Terfs) duplication Pathogenic rs267606601 GRCh37 Chromosome 17, 29685632: 29685632
6 NF1 NM_000267.3(NF1): c.8042dupA (p.Tyr2681Terfs) duplication Pathogenic rs267606601 GRCh38 Chromosome 17, 31358614: 31358614
7 NF1 NM_000267.3(NF1): c.6200T> C (p.Leu2067Pro) single nucleotide variant Pathogenic rs137854561 GRCh37 Chromosome 17, 29663768: 29663768
8 NF1 NM_000267.3(NF1): c.6200T> C (p.Leu2067Pro) single nucleotide variant Pathogenic rs137854561 GRCh38 Chromosome 17, 31336750: 31336750
9 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
10 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh38 Chromosome 17, 31336328: 31336328
11 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh37 Chromosome 17, 29528062: 29528062
12 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh38 Chromosome 17, 31201044: 31201044
13 NF1 NM_000267.3(NF1): c.7126+3A> C single nucleotide variant Pathogenic rs267606610 GRCh37 Chromosome 17, 29670156: 29670156
14 NF1 NM_000267.3(NF1): c.7126+3A> C single nucleotide variant Pathogenic rs267606610 GRCh38 Chromosome 17, 31343138: 31343138
15 NF1 NM_000267.3(NF1): c.2585C> G (p.Thr862Ser) single nucleotide variant Uncertain significance rs200302954 GRCh37 Chromosome 17, 29556218: 29556218
16 NF1 NM_000267.3(NF1): c.2585C> G (p.Thr862Ser) single nucleotide variant Uncertain significance rs200302954 GRCh38 Chromosome 17, 31229200: 31229200
17 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh37 Chromosome 17, 29653037: 29653037
18 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh38 Chromosome 17, 31326019: 31326019
19 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh37 Chromosome 17, 29496957: 29496957
20 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh38 Chromosome 17, 31169939: 31169939
21 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh37 Chromosome 17, 29685632: 29685632
22 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh38 Chromosome 17, 31358614: 31358614
23 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
24 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh38 Chromosome 17, 31235729: 31235729
25 NF1 NM_001042492.2(NF1): c.7891A> G (p.Thr2631Ala) single nucleotide variant Uncertain significance rs199474793 GRCh37 Chromosome 17, 29684308: 29684308
26 NF1 NM_001042492.2(NF1): c.7891A> G (p.Thr2631Ala) single nucleotide variant Uncertain significance rs199474793 GRCh38 Chromosome 17, 31357290: 31357290
27 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh38 Chromosome 17, 31225182: 31225182
28 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh37 Chromosome 17, 29552200: 29552200
29 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh37 Chromosome 17, 29686024: 29686024
30 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh38 Chromosome 17, 31359006: 31359006
31 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh37 Chromosome 17, 29490255: 29490255
32 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh38 Chromosome 17, 31163237: 31163237
33 NF1 NM_001042492.2(NF1): c.575G> A (p.Arg192Gln) single nucleotide variant Uncertain significance rs587781670 GRCh37 Chromosome 17, 29497004: 29497004
34 NF1 NM_001042492.2(NF1): c.575G> A (p.Arg192Gln) single nucleotide variant Uncertain significance rs587781670 GRCh38 Chromosome 17, 31169986: 31169986
35 NF1 NM_001042492.2(NF1): c.3604G> T (p.Ala1202Ser) single nucleotide variant Uncertain significance rs146641724 GRCh37 Chromosome 17, 29560127: 29560127
36 NF1 NM_001042492.2(NF1): c.3604G> T (p.Ala1202Ser) single nucleotide variant Uncertain significance rs146641724 GRCh38 Chromosome 17, 31233109: 31233109
37 NF1 NM_001042492.2(NF1): c.7520C> T (p.Thr2507Ile) single nucleotide variant Uncertain significance rs149055633 GRCh37 Chromosome 17, 29679337: 29679337
38 NF1 NM_001042492.2(NF1): c.7520C> T (p.Thr2507Ile) single nucleotide variant Uncertain significance rs149055633 GRCh38 Chromosome 17, 31352319: 31352319
39 NF1 NM_001042492.2(NF1): c.1166A> G (p.His389Arg) single nucleotide variant Uncertain significance rs149739570 GRCh37 Chromosome 17, 29528158: 29528158
40 NF1 NM_001042492.2(NF1): c.1166A> G (p.His389Arg) single nucleotide variant Uncertain significance rs149739570 GRCh38 Chromosome 17, 31201140: 31201140
41 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh37 Chromosome 17, 29684006: 29684006
42 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh38 Chromosome 17, 31356988: 31356988
43 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh37 Chromosome 17, 29654761: 29654761
44 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh38 Chromosome 17, 31327743: 31327743
45 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
46 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
47 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
48 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
49 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
50 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757

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:

# Super pathways Score Top Affiliating Genes
1 10.67 NF1 NF2

GO Terms for Neurofibromatosis, Familial Spinal

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

Sources for Neurofibromatosis, Familial Spinal

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20 FMA
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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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