Neurofibromatosis, Familial Spinal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NRF016 MIFTS: 31	Neurofibromatosis, Familial Spinal Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 162210

MedGen ⁴² C1834235

SNOMED-CT via HPO ⁶⁹ 263681008 201281002 51089004 more

UMLS ⁷³ C1834235

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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.

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Related Diseases for Neurofibromatosis, Familial Spinal

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	neurofibromatosis, type iv, of riccardi	29.3	NF1 NF2
2	neurofibrosarcoma	10.1	NF1 NF2
3	plexiform schwannoma	10.1	NF1 NF2
4	immature cataract	10.1	NF1 NF2
5	plexiform neurofibroma	10.1	NF1 NF2
6	atypical neurofibroma	10.1	NF1 NF2
7	amyloid tumor	10.1	NF1 NF2
8	spinal meningioma	10.1	NF1 NF2
9	spinal canal and spinal cord meningioma	10.1	NF1 NF2
10	neurilemmomatosis	10.1	NF1 NF2
11	optic nerve neoplasm	10.1	NF1 NF2
12	acoustic neuroma	10.1	NF1 NF2
13	spinal cord ependymoma	10.0	NF1 NF2
14	cellular schwannoma	10.0	NF1 NF2
15	neurofibromatosis, type ii	10.0	NF1 NF2
16	neurilemmoma	10.0	NF1 NF2
17	neurofibroma	10.0	NF1 NF2
18	organ system benign neoplasm	10.0	NF1 NF2
19	neuroma	9.9	NF1 NF2
20	peripheral nervous system neoplasm	9.9	NF1 NF2
21	nervous system cancer	9.8	NF1 NF2
22	autosomal genetic disease	9.8	NF1 NF2
23	malignant peripheral nerve sheath tumor	9.7	NF1 NF2
24	neurofibromatosis, type i	9.7
25	autosomal dominant disease	9.6	NF1 NF2
26	meningioma, familial	9.3	NF1 NF2
27	neurofibromatosis-noonan syndrome	9.1	LOC105371722 MIR4733 NF1

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

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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

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Drugs & Therapeutics for Neurofibromatosis, Familial Spinal

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

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Genetic Tests for Neurofibromatosis, Familial Spinal

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

MalaCards organs/tissues related to Neurofibromatosis, Familial Spinal:

⁴¹

Spinal Cord

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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 )	Pizzuti A....Dallapiccola B.	2011
2	Neurological pictures. Familial spinal neurofibromatosis: three generations of identical level symptomatic tumours. ( 20547631 )	Tsuji M....Osaka N.	2010
3	Familial spinal neurofibromatosis. ( 17712740 )	Pascual-Castroviejo I....ViaA+o J.	2007
4	A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. ( 9529361 )	Ars E....Estivill X.	1998
5	Familial spinal neurofibromatosis: clinical and DNA linkage analysis. ( 1745350 )	Pulst S.M....Korenberg J.R.	1991

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Genes for Neurofibromatosis, Familial Spinal

Genes related to Neurofibromatosis, Familial Spinal (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NF1	Neurofibromin 1	Protein Coding	1344.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	11704931 10712197 9132486 (more) 10862084 1745350 9529361 24493721 20301288 20301471 20065170 17636453 15604628 24893135
2	NF2	Neurofibromin 2	Protein Coding	16.95	GeneCards inferred via : Publications (show sections)
3	MIR4733	MicroRNA 4733	RNA Gene	8.97	GeneCards inferred via : Variants (show sections)
4	LOC105371722	Uncharacterized LOC105371722	RNA Gene	8.97	GeneCards inferred via : Variants (show sections)

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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

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Expression for Neurofibromatosis, Familial Spinal

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

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Pathways for Neurofibromatosis, Familial Spinal

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

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

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