MCID: NRF016
MIFTS: 31

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 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:



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)

MalaCards based summary : Neurofibromatosis, Familial Spinal, also known as fsnf, is related to neurofibromatosis, type iv, of riccardi and neurofibrosarcoma, 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 cafe-au-lait spot and freckling

UniProtKB/Swiss-Prot : 75 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:

57
Head And Neck Eyes:
lisch nodules (iris hamartomas) may or may not be present

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


Clinical features from OMIM:

162210

Human phenotypes related to Neurofibromatosis, Familial Spinal:

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

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

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:

41
Spinal Cord

Publications for Neurofibromatosis, Familial Spinal

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

Variations for Neurofibromatosis, Familial Spinal

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 172)
# 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_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
12 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
13 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
14 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
15 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
16 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757
17 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh37 Chromosome 17, 29509641: 29509641
18 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh38 Chromosome 17, 31182623: 31182623
19 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
20 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
21 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh37 Chromosome 17, 29553485: 29553485
22 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh38 Chromosome 17, 31226467: 31226467
23 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh37 Chromosome 17, 29556177: 29556177
24 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh38 Chromosome 17, 31229159: 31229159
25 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh37 Chromosome 17, 29562948: 29562948
26 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh38 Chromosome 17, 31235930: 31235930
27 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh37 Chromosome 17, 29592271: 29592271
28 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh38 Chromosome 17, 31265253: 31265253
29 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh37 Chromosome 17, 29652853: 29652853
30 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh38 Chromosome 17, 31325835: 31325835
31 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh37 Chromosome 17, 29652884: 29652884
32 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh38 Chromosome 17, 31325866: 31325866
33 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh37 Chromosome 17, 29652931: 29652931
34 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh38 Chromosome 17, 31325913: 31325913
35 NF1 NM_001042492.2(NF1): c.6393C> T (p.His2131=) single nucleotide variant Benign/Likely benign rs17881788 GRCh37 Chromosome 17, 29663898: 29663898
36 NF1 NM_001042492.2(NF1): c.6393C> T (p.His2131=) single nucleotide variant Benign/Likely benign rs17881788 GRCh38 Chromosome 17, 31336880: 31336880
37 NF1 NM_001042492.2(NF1): c.6555G> A (p.Arg2185=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203189 GRCh37 Chromosome 17, 29664513: 29664513
38 NF1 NM_001042492.2(NF1): c.6555G> A (p.Arg2185=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203189 GRCh38 Chromosome 17, 31337495: 31337495
39 NF1 NM_001042492.2(NF1): c.7026G> A (p.Leu2342=) single nucleotide variant Conflicting interpretations of pathogenicity rs371581213 GRCh37 Chromosome 17, 29667627: 29667627
40 NF1 NM_001042492.2(NF1): c.7026G> A (p.Leu2342=) single nucleotide variant Conflicting interpretations of pathogenicity rs371581213 GRCh38 Chromosome 17, 31340609: 31340609
41 NF1 NM_001042492.2(NF1): c.7213A> G (p.Ile2405Val) single nucleotide variant Uncertain significance rs565708398 GRCh37 Chromosome 17, 29676161: 29676161
42 NF1 NM_001042492.2(NF1): c.7213A> G (p.Ile2405Val) single nucleotide variant Uncertain significance rs565708398 GRCh38 Chromosome 17, 31349143: 31349143
43 NF1 NM_001042492.2(NF1): c.7246C> T (p.Leu2416=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201310 GRCh37 Chromosome 17, 29676194: 29676194
44 NF1 NM_001042492.2(NF1): c.7246C> T (p.Leu2416=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201310 GRCh38 Chromosome 17, 31349176: 31349176
45 NF1 NM_001042492.2(NF1): c.7755C> T (p.Ser2585=) single nucleotide variant Benign/Likely benign rs17881980 GRCh37 Chromosome 17, 29683994: 29683994
46 NF1 NM_001042492.2(NF1): c.7755C> T (p.Ser2585=) single nucleotide variant Benign/Likely benign rs17881980 GRCh38 Chromosome 17, 31356976: 31356976
47 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh37 Chromosome 17, 29684326: 29684326
48 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh38 Chromosome 17, 31357308: 31357308
49 NF1 NM_001042492.2(NF1): c.8499T> C (p.Asn2833=) single nucleotide variant Conflicting interpretations of pathogenicity rs142636150 GRCh37 Chromosome 17, 29701152: 29701152
50 NF1 NM_001042492.2(NF1): c.8499T> C (p.Asn2833=) single nucleotide variant Conflicting interpretations of pathogenicity rs142636150 GRCh38 Chromosome 17, 31374134: 31374134

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 regulation of cell proliferation GO:0042127 9.4 NF1 NF2
2 brain development GO:0007420 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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