FSNF
MCID: NRF016
MIFTS: 29

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 57 29 13 6 39 70
Fsnf 57 72
Familial Spinal Neurofibromatosis 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
neurofibromatosis, familial spinal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 162210
MedGen 41 C1834235
UMLS 70 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 20-May-2021)

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). Affiliated tissues include spinal cord, and related phenotypes are spinal cord tumor and freckling

UniProtKB/Swiss-Prot : 72 Familial spinal neurofibromatosis: 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type i 30.7 NF1 LOC111811965
2 neurofibromatosis 29.8 NF1 LOC111811965
3 neurofibroma 10.2
4 neurofibromatosis, type ii 9.9
5 tumor predisposition syndrome 9.9
6 cutaneous telangiectasia and cancer syndrome, familial 9.9
7 peripheral nervous system disease 9.9
8 neuropathy 9.9
9 inherited cancer-predisposing syndrome 9.9
10 optic pathway glioma 9.7 NF1 LOC111811965
11 neurofibromatosis-noonan syndrome 9.6 NF1 LOC111811965

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spinal cord tumor 31 obligate (100%) HP:0010302
2 freckling 31 HP:0001480
3 lisch nodules 31 HP:0009737
4 cafe-au-lait spot 31 HP:0000957
5 paraparesis 31 HP:0002385
6 lower limb muscle weakness 31 HP:0007340
7 symmetric spinal nerve root neurofibromas 31 HP:0006851

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 29 NF1

Anatomical Context for Neurofibromatosis, Familial Spinal

MalaCards organs/tissues related to Neurofibromatosis, Familial Spinal:

40
Spinal Cord

Publications for Neurofibromatosis, Familial Spinal

Articles related to Neurofibromatosis, Familial Spinal:

(show all 12)
# Title Authors PMID Year
1
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 57 6
11704931 2001
2
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. 6 57
9529361 1998
3
Hereditary spinal neurofibromatosis: a rare form of NF1? 6 57
9132486 1997
4
Familial spinal neurofibromatosis: clinical and DNA linkage analysis. 6 57
1745350 1991
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. 6
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. 6
10862084 2000
9
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation. 61
23954459 2014
10
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. 61
19221814 2009
11
Familial spinal neurofibromatosis. 61
17712740 2007
12
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. 61
12082509 2002

Variations for Neurofibromatosis, Familial Spinal

ClinVar genetic disease variations for Neurofibromatosis, Familial Spinal:

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_000267.3(NF1):c.8042dup (p.Tyr2681Ter) Duplication Pathogenic 349 rs267606601 GRCh37: 17:29685631-29685632
GRCh38: 17:31358613-31358614
2 NF1 NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) SNV Pathogenic 358 rs137854561 GRCh37: 17:29663768-29663768
GRCh38: 17:31336750-31336750
3 NF1 NM_000267.3(NF1):c.5944-5A>G SNV Pathogenic 359 rs267606604 GRCh37: 17:29663346-29663346
GRCh38: 17:31336328-31336328
4 NF1 NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) SNV Pathogenic 368 rs137854563 GRCh37: 17:29528062-29528062
GRCh38: 17:31201044-31201044
5 NF1 NM_000267.3(NF1):c.7126+3A>C SNV Pathogenic 369 rs267606610 GRCh37: 17:29670156-29670156
GRCh38: 17:31343138-31343138
6 NF1 NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) SNV Pathogenic 184261 rs786201367 GRCh37: 17:29684326-29684326
GRCh38: 17:31357308-31357308
7 NF1 NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic 230673 rs778405030 GRCh37: 17:29533315-29533315
GRCh38: 17:31206297-31206297
8 NF1 NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) SNV Pathogenic 576444 rs1567847905 GRCh37: 17:29554250-29554250
GRCh38: 17:31227232-31227232
9 NF1 NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic 280055 rs886041347 GRCh37: 17:29556079-29556079
GRCh38: 17:31229061-31229061
10 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic 68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
11 NF1 NM_000267.3(NF1):c.3870+1G>T SNV Pathogenic 565498 rs1131691075 GRCh37: 17:29562791-29562791
GRCh38: 17:31235773-31235773
12 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic 336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
13 NF1 NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) SNV Pathogenic 570950 rs1567862991 GRCh37: 17:29587499-29587499
GRCh38: 17:31260481-31260481
14 NF1 NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) SNV Pathogenic 208854 rs771529172 GRCh37: 17:29654737-29654737
GRCh38: 17:31327719-31327719
15 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) SNV Pathogenic 185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
16 NF1 NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) SNV Pathogenic 187652 rs786203896 GRCh37: 17:29657486-29657486
GRCh38: 17:31330468-31330468
17 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) SNV Pathogenic 343 rs137854552 GRCh37: 17:29661945-29661945
GRCh38: 17:31334927-31334927
18 NF1 NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) SNV Pathogenic 233869 rs876660696 GRCh37: 17:29662034-29662034
GRCh38: 17:31335016-31335016
19 NF1 NM_000267.3(NF1):c.5943+1G>A SNV Pathogenic 488817 rs1555534433 GRCh37: 17:29662050-29662050
GRCh38: 17:31335032-31335032
20 NF1 NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) SNV Pathogenic 428948 rs1131691073 GRCh37: 17:29667571-29667571
GRCh38: 17:31340553-31340553
21 NF1 NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) SNV Pathogenic 208853 rs797045139 GRCh37: 17:29654736-29654736
GRCh38: 17:31327718-31327718
22 NF1 NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) SNV Pathogenic 185082 rs772295894 GRCh37: 17:29665757-29665757
GRCh38: 17:31338739-31338739
23 NF1 NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) SNV Likely pathogenic 457650 rs1064794277 GRCh37: 17:29559850-29559850
GRCh38: 17:31232832-31232832
24 NF1 NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) SNV Uncertain significance 142804 rs368654378 GRCh37: 17:29654761-29654761
GRCh38: 17:31327743-31327743
25 NF1 NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) SNV Uncertain significance 41679 rs201824349 GRCh37: 17:29685632-29685632
GRCh38: 17:31358614-31358614
26 NF1 NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) SNV Uncertain significance 186162 rs565708398 GRCh37: 17:29676161-29676161
GRCh38: 17:31349143-31349143
27 NF1 NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) SNV Uncertain significance 185777 rs143836226 GRCh37: 17:29562948-29562948
GRCh38: 17:31235930-31235930
28 NF1 NM_000267.3(NF1):c.2794A>G (p.Met932Val) SNV Uncertain significance 322572 rs886052800 GRCh37: 17:29556427-29556427
GRCh38: 17:31229409-31229409
29 NF1 NM_000267.3(NF1):c.1846-8T>A SNV Uncertain significance 322571 rs886052799 GRCh37: 17:29552105-29552105
GRCh38: 17:31225087-31225087
30 LOC111811965 , NF1 NM_000267.3(NF1):c.-237dup Duplication Uncertain significance 322557 rs886052788 GRCh37: 17:29422087-29422088
GRCh38: 17:31095069-31095070
31 NF1 NM_000267.3(NF1):c.6567G>A (p.Leu2189=) SNV Uncertain significance 322575 rs886052801 GRCh37: 17:29664588-29664588
GRCh38: 17:31337570-31337570
32 NF1 NM_000267.3(NF1):c.*871del Deletion Uncertain significance 322584 rs759306393 GRCh37: 17:29702044-29702044
GRCh38: 17:31375026-31375026
33 NF1 NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) SNV Uncertain significance 457642 rs751571517 GRCh37: 17:29559762-29559762
GRCh38: 17:31232744-31232744
34 NF1 NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) SNV Uncertain significance 457643 rs374472758 GRCh37: 17:29559774-29559774
GRCh38: 17:31232756-31232756
35 NF1 NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) SNV Uncertain significance 141747 rs146641724 GRCh37: 17:29560127-29560127
GRCh38: 17:31233109-31233109
36 NF1 NM_000267.3(NF1):c.3811A>G (p.Met1271Val) SNV Uncertain significance 457669 rs746583007 GRCh37: 17:29562731-29562731
GRCh38: 17:31235713-31235713
37 NF1 NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) SNV Uncertain significance 404507 rs1060500310 GRCh37: 17:29585389-29585389
GRCh38: 17:31258371-31258371
38 NF1 NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) SNV Uncertain significance 185835 rs786202492 GRCh37: 17:29586111-29586111
GRCh38: 17:31259093-31259093
39 NF1 NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) SNV Uncertain significance 216405 rs185660700 GRCh37: 17:29592288-29592288
GRCh38: 17:31265270-31265270
40 NF1 NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) SNV Uncertain significance 484003 rs751904277 GRCh37: 17:29657433-29657433
GRCh38: 17:31330415-31330415
41 NF1 NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) SNV Uncertain significance 220184 rs377662483 GRCh37: 17:29677233-29677233
GRCh38: 17:31350215-31350215
42 NF1 NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) SNV Uncertain significance 216411 rs748027595 GRCh37: 17:29677275-29677275
GRCh38: 17:31350257-31350257
43 NF1 NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) SNV Uncertain significance 141844 rs149055633 GRCh37: 17:29679337-29679337
GRCh38: 17:31352319-31352319
44 NF1 NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) SNV Uncertain significance 68363 rs199474793 GRCh37: 17:29684308-29684308
GRCh38: 17:31357290-31357290
45 NF1 NM_000267.3(NF1):c.169G>A (p.Gly57Ser) SNV Uncertain significance 237522 rs779727341 GRCh37: 17:29483109-29483109
GRCh38: 17:31156091-31156091
46 NF1 NM_000267.3(NF1):c.575G>A (p.Arg192Gln) SNV Uncertain significance 141341 rs587781670 GRCh37: 17:29497004-29497004
GRCh38: 17:31169986-31169986
47 NF1 NM_000267.3(NF1):c.845A>G (p.Gln282Arg) SNV Uncertain significance 527438 rs779034900 GRCh37: 17:29509640-29509640
GRCh38: 17:31182622-31182622
48 NF1 NM_000267.3(NF1):c.1166A>G (p.His389Arg) SNV Uncertain significance 141982 rs149739570 GRCh37: 17:29528158-29528158
GRCh38: 17:31201140-31201140
49 NF1 NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) SNV Uncertain significance 41670 rs200302954 GRCh37: 17:29556218-29556218
GRCh38: 17:31229200-31229200
50 NF1 NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) SNV Uncertain significance 41680 rs200572531 GRCh37: 17:29509642-29509642
GRCh38: 17:31182624-31182624

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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28 GO
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30 HMDB
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32 ICD10
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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