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

FSNF MCID: NRF016 MIFTS: 29	Neurofibromatosis, Familial Spinal (FSNF) Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes 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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 162210

MedGen ⁴¹ C1834235

SNOMED-CT via HPO ⁶⁸ 126962006 1845001 201281002 more

UMLS ⁷⁰ 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 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.

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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 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:

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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

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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:

⁴⁰

Spinal Cord

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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	Kaufmann D...Assum G	11704931	2001
2	A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. ⁶ ⁵⁷	Ars E...Estivill X	9529361	1998
3	Hereditary spinal neurofibromatosis: a rare form of NF1? ⁶ ⁵⁷	Poyhonen M...Leisti J	9132486	1997
4	Familial spinal neurofibromatosis: clinical and DNA linkage analysis. ⁶ ⁵⁷	Pulst SM...Korenberg JR	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	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. ⁶	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. ⁶	Messiaen LM...Paepe AD	10862084	2000
9	Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation. ⁶¹	Nicita F...Ruggieri M	23954459	2014
10	The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. ⁶¹	Upadhyaya M...Mautner V	19221814	2009
11	Familial spinal neurofibromatosis. ⁶¹	Pascual-Castroviejo I...Viano J	17712740	2007
12	A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. ⁶¹	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	1334.81	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	9529361
2	LOC111811965	NF1 (Neurofibromin 1) Promoter Region	Biological Region	8.62	GeneCards inferred via : Variants (show sections)

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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

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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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Neurofibromatosis, Familial Spinal (FSNF)

Aliases & Classifications for Neurofibromatosis, Familial Spinal

MalaCards integrated aliases for Neurofibromatosis, Familial Spinal:

Characteristics:

OMIM®:

HPO:

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

MalaCards organs/tissues related to 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