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

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 162210

MedGen ⁴⁰ C1834235

SNOMED-CT via HPO ⁶⁹ 1845001 201281002 249945007 more

UMLS ⁷¹ 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) (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.

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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:

#	Related Disease	Score
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:

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Symptoms & Phenotypes for Neurofibromatosis, Familial Spinal

Human phenotypes related to Neurofibromatosis, Familial Spinal:

³⁰ (show all 7)

#	Description	HPO 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

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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 ²⁸	NF1

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Anatomical Context for Neurofibromatosis, Familial Spinal

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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	Ars E...Estivill X	9529361	1998
2	Familial spinal neurofibromatosis: clinical and DNA linkage analysis. ⁶² ⁵⁷ ⁵	Pulst SM...Korenberg JR	1745350	1991
3	Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. ⁵⁷ ⁵	Kaufmann D...Assum G	11704931	2001
4	Hereditary spinal neurofibromatosis: a rare form of NF1? ⁵⁷ ⁵	Poyhonen M...Leisti J	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	Burkitt Wright EM...Evans DG	23812910	2013
6	Independent NF1 mutations in two large families with spinal neurofibromatosis. ⁵⁷	Messiaen L...Poyhonen M	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	Fahsold R...Nurnberg P	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	Messiaen LM...Paepe AD	10862084	2000
9	Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1. ⁶²	Pandey S...Santhosh D	28381935	2017
10	Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation. ⁶²	Nicita F...Ruggieri M	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	Ruggieri M...Pavone V	23780384	2013
12	Bilateral spinal neurofibromas in patients with neurofibromatosis 1. ⁶²	Pascual-Castroviejo I...Lopez-Gutierrez JC	21999966	2012
13	Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. ⁶²	Pizzuti A...Dallapiccola B	21365283	2011
14	Neurological pictures. Familial spinal neurofibromatosis: three generations of identical level symptomatic tumours. ⁶²	Tsuji M...Osaka N	20547631	2010
15	The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. ⁶²	Upadhyaya M...Mautner V	19221814	2009
16	Familial spinal neurofibromatosis. ⁶²	Pascual-Castroviejo I...Viano J	17712740	2007
17	A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. ⁶²	Wimmer K...Messiaen L	12082509	2002

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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	PubMed IDs
1	NF1	Neurofibromin 1	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	1745350 9132486 9529361 (more) 10712197 10862084 11704931

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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

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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

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GO Terms for Neurofibromatosis, Familial Spinal

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Sources for Neurofibromatosis, Familial Spinal

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

FSNF MCID: NRF016 MIFTS: 28	Neurofibromatosis, Familial Spinal (FSNF) Categories: Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Neurofibromatosis, Familial Spinal (FSNF)

Aliases & Classifications for Neurofibromatosis, Familial Spinal

MalaCards integrated aliases for Neurofibromatosis, Familial Spinal:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Neurofibromatosis, Familial Spinal

Related Diseases for Neurofibromatosis, Familial Spinal

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

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

Symptoms & Phenotypes for Neurofibromatosis, Familial Spinal

Human phenotypes related to Neurofibromatosis, Familial Spinal:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Neurofibromatosis, Familial Spinal:

Drugs & Therapeutics for Neurofibromatosis, Familial Spinal

Genetic Tests for Neurofibromatosis, Familial Spinal

Genetic tests related to Neurofibromatosis, Familial Spinal:

Anatomical Context for Neurofibromatosis, Familial Spinal

Publications for Neurofibromatosis, Familial Spinal

Articles related to Neurofibromatosis, Familial Spinal:

Genes for Neurofibromatosis, Familial Spinal

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

Variations for Neurofibromatosis, Familial Spinal

ClinVar genetic disease variations for Neurofibromatosis, Familial Spinal:

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

Expression for Neurofibromatosis, Familial Spinal

Pathways for Neurofibromatosis, Familial Spinal

GO Terms for Neurofibromatosis, Familial Spinal

Sources for Neurofibromatosis, Familial Spinal