FSNF
MCID: NRF016
MIFTS: 28

Neurofibromatosis, Familial Spinal (FSNF)

Categories: Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurofibromatosis, Familial Spinal

MalaCards integrated aliases for Neurofibromatosis, Familial Spinal:

Name: Neurofibromatosis, Familial Spinal 57 28 12 5 38 71
Fsnf 57 73
Familial Spinal Neurofibromatosis 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
spinal tumors are necessary for diagnosis
other features of neurofibromatosis type i (nf1, ) may or may not be present
allelic disorder to nf1


Classifications:



External Ids:

OMIM® 57 162210
MedGen 40 C1834235
UMLS 71 C1834235

Summaries for Neurofibromatosis, Familial Spinal

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) (Updated 08-Dec-2022)

MalaCards based summary: Neurofibromatosis, Familial Spinal, also known as fsnf, is related to neurofibromatosis, type i and neurofibromatosis, and has symptoms including paraparesis An important gene associated with Neurofibromatosis, Familial Spinal is NF1 (Neurofibromin 1). Related phenotypes are plexiform neurofibroma and lisch nodules

UniProtKB/Swiss-Prot: 73 Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.

Related Diseases for Neurofibromatosis, Familial Spinal

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

# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type i 11.0
2 neurofibromatosis 10.3
3 neurofibroma 10.2
4 neurofibromatosis-noonan syndrome 10.1
5 neurofibromatosis, type ii 9.9
6 peripheral nervous system disease 9.9
7 neuropathy 9.9
8 bap1 tumor predisposition syndrome 9.9
9 inherited cancer-predisposing syndrome 9.9

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:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 plexiform neurofibroma 30 Very rare (1%) HP:0009732
2 lisch nodules 30 Very rare (1%) HP:0009737
3 spinal neurofibromas 30 Very rare (1%) HP:0009735
4 cafe-au-lait spot 30 Very rare (1%) HP:0000957
5 paraparesis 30 Very rare (1%) HP:0002385
6 lower limb muscle weakness 30 HP:0007340
7 symmetric spinal nerve root neurofibromas 30 HP:0006851

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

UMLS symptoms related to Neurofibromatosis, Familial Spinal:


paraparesis

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 28 NF1

Anatomical Context for Neurofibromatosis, Familial Spinal

Publications for Neurofibromatosis, Familial Spinal

Articles related to Neurofibromatosis, Familial Spinal:

(show all 17)
# Title Authors PMID Year
1
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. 62 57 5
9529361 1998
2
Familial spinal neurofibromatosis: clinical and DNA linkage analysis. 62 57 5
1745350 1991
3
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 57 5
11704931 2001
4
Hereditary spinal neurofibromatosis: a rare form of NF1? 57 5
9132486 1997
5
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 57
23812910 2013
6
Independent NF1 mutations in two large families with spinal neurofibromatosis. 57
12566521 2003
7
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. 5
10712197 2000
8
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. 5
10862084 2000
9
Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1. 62
28381935 2017
10
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation. 62
23954459 2014
11
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype. 62
23780384 2013
12
Bilateral spinal neurofibromas in patients with neurofibromatosis 1. 62
21999966 2012
13
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. 62
21365283 2011
14
Neurological pictures. Familial spinal neurofibromatosis: three generations of identical level symptomatic tumours. 62
20547631 2010
15
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. 62
19221814 2009
16
Familial spinal neurofibromatosis. 62
17712740 2007
17
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. 62
12082509 2002

Variations for Neurofibromatosis, Familial Spinal

ClinVar genetic disease variations for Neurofibromatosis, Familial Spinal:

5 (show top 50) (show all 209)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.8105dup (p.Tyr2702Ter) DUP Pathogenic
349 rs267606601 GRCh37: 17:29685631-29685632
GRCh38: 17:31358613-31358614
2 NF1 NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) SNV Pathogenic
368 rs137854563 GRCh37: 17:29528062-29528062
GRCh38: 17:31201044-31201044
3 NF1 NM_001042492.3(NF1):c.7189+3A>C SNV Pathogenic
369 rs267606610 GRCh37: 17:29670156-29670156
GRCh38: 17:31343138-31343138
4 NF1 NM_001042492.3(NF1):c.6897del (p.Lys2300fs) DEL Pathogenic
1527847 GRCh37: 17:29665798-29665798
GRCh38: 17:31338780-31338780
5 NF1 NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) SNV Pathogenic
576444 rs1567847905 GRCh37: 17:29554250-29554250
GRCh38: 17:31227232-31227232
6 NF1 NM_001042492.3(NF1):c.3870+1G>T SNV Pathogenic
565498 rs1131691075 GRCh37: 17:29562791-29562791
GRCh38: 17:31235773-31235773
7 NF1 NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) SNV Pathogenic
570950 rs1567862991 GRCh37: 17:29587499-29587499
GRCh38: 17:31260481-31260481
8 NF1 NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) SNV Pathogenic
187652 rs786203896 GRCh37: 17:29657486-29657486
GRCh38: 17:31330468-31330468
9 NF1 NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) SNV Pathogenic
428948 rs1131691073 GRCh37: 17:29667571-29667571
GRCh38: 17:31340553-31340553
10 NF1 NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) SNV Pathogenic
233869 rs876660696 GRCh37: 17:29662034-29662034
GRCh38: 17:31335016-31335016
11 NF1 NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) SNV Pathogenic
184261 rs786201367 GRCh37: 17:29684326-29684326
GRCh38: 17:31357308-31357308
12 NF1 NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic
230673 rs778405030 GRCh37: 17:29533315-29533315
GRCh38: 17:31206297-31206297
13 NF1 NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) SNV Pathogenic
185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
14 NF1 NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) SNV Pathogenic
343 rs137854552 GRCh37: 17:29661945-29661945
GRCh38: 17:31334927-31334927
15 NF1 NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro) SNV Pathogenic
358 rs137854561 GRCh37: 17:29663768-29663768
GRCh38: 17:31336750-31336750
16 NF1 NM_001042492.3(NF1):c.6007-5A>G SNV Pathogenic
359 rs267606604 GRCh37: 17:29663346-29663346
GRCh38: 17:31336328-31336328
17 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic
68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
18 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic
336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
19 NF1 NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) SNV Pathogenic
208854 rs771529172 GRCh37: 17:29654737-29654737
GRCh38: 17:31327719-31327719
20 NF1 NM_001042492.3(NF1):c.6006+1G>A SNV Pathogenic
488817 rs1555534433 GRCh37: 17:29662050-29662050
GRCh38: 17:31335032-31335032
21 NF1 NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) SNV Pathogenic
185082 rs772295894 GRCh37: 17:29665757-29665757
GRCh38: 17:31338739-31338739
22 NF1 NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) SNV Pathogenic
208853 rs797045139 GRCh37: 17:29654736-29654736
GRCh38: 17:31327718-31327718
23 NF1 NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic
280055 rs886041347 GRCh37: 17:29556079-29556079
GRCh38: 17:31229061-31229061
24 NF1 NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) SNV Pathogenic
68323 rs199474747 GRCh37: 17:29556173-29556173
GRCh38: 17:31229155-31229155
25 NF1 NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) SNV Pathogenic
527517 rs1187097568 GRCh37: 17:29559848-29559848
GRCh38: 17:31232830-31232830
26 NF1 NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) SNV Pathogenic
428982 rs1131691103 GRCh37: 17:29654559-29654559
GRCh38: 17:31327541-31327541
27 NF1 NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) SNV Likely Pathogenic
457650 rs1064794277 GRCh37: 17:29559850-29559850
GRCh38: 17:31232832-31232832
28 NF1 NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) SNV Uncertain Significance
41679 rs201824349 GRCh37: 17:29685632-29685632
GRCh38: 17:31358614-31358614
29 NF1 NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) SNV Uncertain Significance
Uncertain Significance
185777 rs143836226 GRCh37: 17:29562948-29562948
GRCh38: 17:31235930-31235930
30 NF1 NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) SNV Uncertain Significance
Uncertain Significance
142804 rs368654378 GRCh37: 17:29654761-29654761
GRCh38: 17:31327743-31327743
31 NF1 NM_001042492.3(NF1):c.1392+5G>T SNV Uncertain Significance
480071 rs199999754 GRCh37: 17:29533394-29533394
GRCh38: 17:31206376-31206376
32 NF1 NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) SNV Uncertain Significance
184278 rs140653372 GRCh37: 17:29552254-29552254
GRCh38: 17:31225236-31225236
33 NF1 NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) SNV Uncertain Significance
184320 rs138186428 GRCh37: 17:29562787-29562787
GRCh38: 17:31235769-31235769
34 LOC111811965, NF1 NM_000267.3(NF1):c.-363T>C SNV Uncertain Significance
890653 rs1911498673 GRCh37: 17:29421965-29421965
GRCh38: 17:31094947-31094947
35 NF1 NM_001042492.3(NF1):c.731-6A>C SNV Uncertain Significance
215725 rs369366499 GRCh37: 17:29509520-29509520
GRCh38: 17:31182502-31182502
36 NF1 NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) SNV Uncertain Significance
230614 rs779546178 GRCh37: 17:29553474-29553474
GRCh38: 17:31226456-31226456
37 NF1 NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) SNV Uncertain Significance
141451 rs201047812 GRCh37: 17:29559839-29559839
GRCh38: 17:31232821-31232821
38 NF1 NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) SNV Uncertain Significance
141711 rs138227618 GRCh37: 17:29585395-29585395
GRCh38: 17:31258377-31258377
39 NF1 NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) SNV Uncertain Significance
184710 rs140994965 GRCh37: 17:29653051-29653051
GRCh38: 17:31326033-31326033
40 NF1 NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) SNV Uncertain Significance
231040 rs773378630 GRCh37: 17:29653162-29653162
GRCh38: 17:31326144-31326144
41 NF1 NM_001042492.3(NF1):c.7110C>T (p.His2370=) SNV Uncertain Significance
413033 rs201881479 GRCh37: 17:29670074-29670074
GRCh38: 17:31343056-31343056
42 NF1 NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) SNV Uncertain Significance
484027 rs772543826 GRCh37: 17:29554593-29554593
GRCh38: 17:31227575-31227575
43 NF1 NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) SNV Uncertain Significance
41680 rs200572531 GRCh37: 17:29509642-29509642
GRCh38: 17:31182624-31182624
44 NF1 NM_001042492.3(NF1):c.1032A>G (p.Leu344=) SNV Uncertain Significance
184189 rs199832006 GRCh37: 17:29527583-29527583
GRCh38: 17:31200565-31200565
45 NF1 NM_001042492.3(NF1):c.1166A>G (p.His389Arg) SNV Uncertain Significance
Uncertain Significance
141982 rs149739570 GRCh37: 17:29528158-29528158
GRCh38: 17:31201140-31201140
46 NF1 NM_001042492.3(NF1):c.1866T>C (p.Cys622=) SNV Uncertain Significance
237524 rs753245823 GRCh37: 17:29552133-29552133
GRCh38: 17:31225115-31225115
47 NF1 NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) SNV Uncertain Significance
184188 rs141077224 GRCh37: 17:29657461-29657461
GRCh38: 17:31330443-31330443
48 NF1 NM_001042492.3(NF1):c.6006+4T>C SNV Uncertain Significance
404586 rs754909198 GRCh37: 17:29662053-29662053
GRCh38: 17:31335035-31335035
49 NF1 NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) SNV Uncertain Significance
41675 rs148736217 GRCh37: 17:29667530-29667530
GRCh38: 17:31340512-31340512
50 NF1 NM_001042492.3(NF1):c.2794A>G (p.Met932Val) SNV Uncertain Significance
322572 rs886052800 GRCh37: 17:29556427-29556427
GRCh38: 17:31229409-31229409

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

73
# Symbol AA change Variation ID SNP ID
1 NF1 p.Leu2088Pro VAR_017669 rs137854561

Expression for Neurofibromatosis, Familial Spinal

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

Pathways for Neurofibromatosis, Familial Spinal

GO Terms for Neurofibromatosis, Familial Spinal

Sources for Neurofibromatosis, Familial Spinal

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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