HSN1F
MCID: NRP036
MIFTS: 33

Neuropathy, Hereditary Sensory, Type if (HSN1F)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type if

MalaCards integrated aliases for Neuropathy, Hereditary Sensory, Type if:

Name: Neuropathy, Hereditary Sensory, Type if 57 70
Hereditary Sensory Neuropathy Type if 12 72 29 6
Hsn1f 57 12 72
Hereditary Sensory Neuropathy Type 1f 12 15
Hsn if 57 72
Neuropathy, Sensory, Hereditary, Type if 39
Neuropathy, Hereditary Sensory, 1f 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade
two unrelated families have been reported (last curated february 2014)


HPO:

31
neuropathy, hereditary sensory, type if:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070154
OMIM® 57 615632
OMIM Phenotypic Series 57 PS162400
MeSH 44 D009477
UMLS 70 C3810194

Summaries for Neuropathy, Hereditary Sensory, Type if

OMIM® : 57 Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014). For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400). (615632) (Updated 20-May-2021)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type if, also known as hereditary sensory neuropathy type if, is related to hereditary sensory neuropathy and hereditary sensory and autonomic neuropathy type 1. An important gene associated with Neuropathy, Hereditary Sensory, Type if is ATL3 (Atlastin GTPase 3). The drugs Serine and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are hyperkeratosis and hallux valgus

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has material basis in heterozygous mutation in the ATL3 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 72 Neuropathy, hereditary sensory, 1F: An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment.

Related Diseases for Neuropathy, Hereditary Sensory, Type if

Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Sptlc1-Related Hereditary Sensory Neuropathy

Diseases related to Neuropathy, Hereditary Sensory, Type if via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 10.2
2 hereditary sensory and autonomic neuropathy type 1 10.2
3 sensory peripheral neuropathy 10.2
4 neuropathy 10.2

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type if

Human phenotypes related to Neuropathy, Hereditary Sensory, Type if:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 hallux valgus 31 HP:0001822
3 osteomyelitis 31 HP:0002754
4 sensory impairment 31 HP:0003474
5 arthropathy 31 HP:0003040
6 osteolytic defects of the phalanges of the hand 31 HP:0009771
7 sensory axonal neuropathy 31 HP:0003390
8 hyporeflexia of lower limbs 31 HP:0002600

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
hyperkeratosis
ulcers, distal, painless, due to sensory neuropathy
foot calluses
plantar ulcers

Neurologic Peripheral Nervous System:
sensory axonal neuropathy
hyporeflexia of the lower limbs
absent ankle jerks
distal sensory impairment to pain, temperature, and touch, lower limbs

Skeletal Feet:
hallux valgus
osteomyelitis
acroosteolysis
foot arthropathy
bony destruction
more

Clinical features from OMIM®:

615632 (Updated 20-May-2021)

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type if

Drugs for Neuropathy, Hereditary Sensory, Type if (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Investigational, Nutraceutical Phase 1, Phase 2 56-45-1 5951
2
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
3
Acetylcarnitine Approved, Investigational 3040-38-8 7045767
4
Methylcobalamin Approved, Investigational 13422-55-4
5 Mango Approved
6
Tocopherol Approved, Investigational 1406-66-2
7
Caffeine Approved 58-08-2 2519
8
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
9
Taurine Approved, Nutraceutical 107-35-7 1123
10
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
11
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
12
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
13
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
14
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
15
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
16
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
17
Cobalamin Experimental 13408-78-1 6857388
18 Tocotrienol Investigational 6829-55-6
19 Cytidine Diphosphate Choline
20 Retinol palmitate
21 Vitamin B Complex
22 carnitine
23 Vitamin B 6
24 retinol
25 Vitamin B 12
26 Nootropic Agents
27 Calciferol
28 Tocotrienols
29 Vitamins
30 Vitamin B2
31 Vitamin B12
32 Tocopherols
33
Pyridoxal Experimental, Nutraceutical 66-72-8 1050

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy of L-Serine in Subjects With Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
2 Effect of a Nootropic on the Cognitive Performance in Young Adults Not yet recruiting NCT04790188

Search NIH Clinical Center for Neuropathy, Hereditary Sensory, Type if

Genetic Tests for Neuropathy, Hereditary Sensory, Type if

Genetic tests related to Neuropathy, Hereditary Sensory, Type if:

# Genetic test Affiliating Genes
1 Hereditary Sensory Neuropathy Type if 29 ATL3

Anatomical Context for Neuropathy, Hereditary Sensory, Type if

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory, Type if:

40
Bone

Publications for Neuropathy, Hereditary Sensory, Type if

Articles related to Neuropathy, Hereditary Sensory, Type if:

# Title Authors PMID Year
1
ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F. 57 6 61
30680846 2019
2
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. 6 57
24736309 2014
3
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. 57 6
24459106 2014

Variations for Neuropathy, Hereditary Sensory, Type if

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory, Type if:

6 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATL3 NM_015459.5(ATL3):c.575A>G (p.Tyr192Cys) SNV Pathogenic 97070 rs587777108 GRCh37: 11:63414022-63414022
GRCh38: 11:63646550-63646550
2 ATL3 NM_015459.5(ATL3):c.1013C>G (p.Pro338Arg) SNV Pathogenic 932960 GRCh37: 11:63403028-63403028
GRCh38: 11:63635556-63635556
3 ATL3 NM_015459.5(ATL3):c.1567C>T (p.Gln523Ter) SNV Pathogenic 998318 GRCh37: 11:63396850-63396850
GRCh38: 11:63629378-63629378
4 ATL3 NM_015459.5(ATL3):c.208C>T (p.Arg70Ter) SNV Pathogenic 998319 GRCh37: 11:63426563-63426563
GRCh38: 11:63659091-63659091
5 ATL3 NM_015459.5(ATL3):c.413T>G (p.Val138Gly) SNV Uncertain significance 999274 GRCh37: 11:63420040-63420040
GRCh38: 11:63652568-63652568
6 ATL3 NM_015459.5(ATL3):c.1242G>T (p.Gln414His) SNV Uncertain significance 1001332 GRCh37: 11:63398809-63398809
GRCh38: 11:63631337-63631337
7 ATL3 NM_015459.5(ATL3):c.533T>C (p.Ile178Thr) SNV Uncertain significance 1004245 GRCh37: 11:63419436-63419436
GRCh38: 11:63651964-63651964
8 ATL3 NC_000011.9:g.(?_63396781)_(63403816_?)dup Duplication Uncertain significance 1004273 GRCh37: 11:63396781-63403816
GRCh38:
9 ATL3 NM_015459.5(ATL3):c.562-7T>A SNV Uncertain significance 1005683 GRCh37: 11:63414042-63414042
GRCh38: 11:63646570-63646570
10 ATL3 NM_015459.5(ATL3):c.1426A>G (p.Met476Val) SNV Uncertain significance 1008466 GRCh37: 11:63398625-63398625
GRCh38: 11:63631153-63631153
11 ATL3 NM_015459.5(ATL3):c.457G>A (p.Val153Met) SNV Uncertain significance 1010160 GRCh37: 11:63419996-63419996
GRCh38: 11:63652524-63652524
12 ATL3 NM_015459.5(ATL3):c.850+3del Deletion Uncertain significance 566401 rs1565274252 GRCh37: 11:63410826-63410826
GRCh38: 11:63643354-63643354
13 ATL3 NM_015459.5(ATL3):c.16C>T (p.Arg6Ter) SNV Uncertain significance 569241 rs1455374554 GRCh37: 11:63438792-63438792
GRCh38: 11:63671320-63671320
14 ATL3 NM_015459.5(ATL3):c.896A>T (p.Tyr299Phe) SNV Uncertain significance 573714 rs1565270878 GRCh37: 11:63403761-63403761
GRCh38: 11:63636289-63636289
15 ATL3 NM_015459.5(ATL3):c.956G>A (p.Arg319Gln) SNV Uncertain significance 574712 rs1302436422 GRCh37: 11:63403701-63403701
GRCh38: 11:63636229-63636229
16 ATL3 NM_015459.5(ATL3):c.557T>G (p.Leu186Arg) SNV Uncertain significance 575025 rs776366099 GRCh37: 11:63419412-63419412
GRCh38: 11:63651940-63651940
17 ATL3 NM_015459.5(ATL3):c.1325G>A (p.Arg442Gln) SNV Uncertain significance 576489 rs574916292 GRCh37: 11:63398726-63398726
GRCh38: 11:63631254-63631254
18 ATL3 NM_015459.5(ATL3):c.2T>C (p.Met1Thr) SNV Uncertain significance 577140 rs200857990 GRCh37: 11:63438806-63438806
GRCh38: 11:63671334-63671334
19 ATL3 NM_015459.5(ATL3):c.172C>T (p.Leu58Phe) SNV Uncertain significance 578742 rs1326004545 GRCh37: 11:63426599-63426599
GRCh38: 11:63659127-63659127
20 ATL3 NM_015459.5(ATL3):c.561+6T>G SNV Uncertain significance 582476 rs893309308 GRCh37: 11:63419402-63419402
GRCh38: 11:63651930-63651930
21 ATL3 NM_015459.5(ATL3):c.651_652delinsTT (p.Pro218Ser) Indel Uncertain significance 641805 rs1590729113 GRCh37: 11:63411700-63411701
GRCh38: 11:63644228-63644229
22 ATL3 NM_015459.5(ATL3):c.1422C>G (p.Asn474Lys) SNV Uncertain significance 387129 rs1057522704 GRCh37: 11:63398629-63398629
GRCh38: 11:63631157-63631157
23 ATL3 NM_015459.5(ATL3):c.581G>A (p.Arg194His) SNV Uncertain significance 541677 rs750850786 GRCh37: 11:63414016-63414016
GRCh38: 11:63646544-63646544
24 ATL3 NM_015459.5(ATL3):c.1451T>C (p.Leu484Pro) SNV Uncertain significance 541678 rs773136140 GRCh37: 11:63398600-63398600
GRCh38: 11:63631128-63631128
25 ATL3 NM_015459.5(ATL3):c.854T>C (p.Ile285Thr) SNV Uncertain significance 541680 rs769032474 GRCh37: 11:63403803-63403803
GRCh38: 11:63636331-63636331
26 ATL3 NM_015459.5(ATL3):c.10C>T (p.Pro4Ser) SNV Uncertain significance 541683 rs755717662 GRCh37: 11:63438798-63438798
GRCh38: 11:63671326-63671326
27 ATL3 NM_015459.5(ATL3):c.76C>G (p.Pro26Ala) SNV Uncertain significance 566349 rs201256418 GRCh37: 11:63426695-63426695
GRCh38: 11:63659223-63659223
28 ATL3 NM_015459.5(ATL3):c.668A>G (p.Tyr223Cys) SNV Uncertain significance 657056 rs1377505644 GRCh37: 11:63411684-63411684
GRCh38: 11:63644212-63644212
29 ATL3 NM_015459.5(ATL3):c.898G>A (p.Val300Ile) SNV Uncertain significance 843632 GRCh37: 11:63403759-63403759
GRCh38: 11:63636287-63636287
30 ATL3 NM_015459.5(ATL3):c.1490G>T (p.Arg497Leu) SNV Uncertain significance 848511 GRCh37: 11:63398561-63398561
GRCh38: 11:63631089-63631089
31 ATL3 NM_015459.5(ATL3):c.650del (p.Phe217fs) Deletion Uncertain significance 939592 GRCh37: 11:63411702-63411702
GRCh38: 11:63644230-63644230
32 ATL3 NM_015459.5(ATL3):c.20T>C (p.Val7Ala) SNV Uncertain significance 943449 GRCh37: 11:63438788-63438788
GRCh38: 11:63671316-63671316
33 ATL3 NM_015459.5(ATL3):c.284G>C (p.Trp95Ser) SNV Uncertain significance 947964 GRCh37: 11:63426354-63426354
GRCh38: 11:63658882-63658882
34 ATL3 NM_015459.5(ATL3):c.1233T>G (p.Phe411Leu) SNV Uncertain significance 960342 GRCh37: 11:63398818-63398818
GRCh38: 11:63631346-63631346
35 ATL3 NM_015459.5(ATL3):c.1183C>A (p.Leu395Met) SNV Uncertain significance 960735 GRCh37: 11:63398868-63398868
GRCh38: 11:63631396-63631396
36 ATL3 NM_015459.5(ATL3):c.685A>G (p.Met229Val) SNV Uncertain significance 970507 GRCh37: 11:63411667-63411667
GRCh38: 11:63644195-63644195
37 ATL3 NM_015459.5(ATL3):c.138G>C (p.Leu46Phe) SNV Uncertain significance 806688 rs372869718 GRCh37: 11:63426633-63426633
GRCh38: 11:63659161-63659161
38 ATL3 NM_015459.5(ATL3):c.961C>A (p.Leu321Ile) SNV Uncertain significance 954062 GRCh37: 11:63403696-63403696
GRCh38: 11:63636224-63636224
39 ATL3 NM_015459.5(ATL3):c.711+1G>T SNV Uncertain significance 958151 GRCh37: 11:63411640-63411640
GRCh38: 11:63644168-63644168
40 ATL3 NM_015459.5(ATL3):c.748C>T (p.Arg250Ter) SNV Uncertain significance 969372 GRCh37: 11:63410931-63410931
GRCh38: 11:63643459-63643459
41 ATL3 NM_015459.5(ATL3):c.1124A>C (p.Lys375Thr) SNV Uncertain significance 541682 rs753546335 GRCh37: 11:63398927-63398927
GRCh38: 11:63631455-63631455
42 ATL3 NM_015459.5(ATL3):c.5_7delinsCTG (p.Leu2_Ser3delinsSerAla) Indel Uncertain significance 541685 rs1555059203 GRCh37: 11:63438801-63438803
GRCh38: 11:63671329-63671331
43 ATL3 NM_015459.5(ATL3):c.853A>G (p.Ile285Val) SNV Uncertain significance 541686 rs1031320296 GRCh37: 11:63403804-63403804
GRCh38: 11:63636332-63636332
44 ATL3 NM_015459.5(ATL3):c.796C>A (p.Pro266Thr) SNV Uncertain significance 541687 rs1052779395 GRCh37: 11:63410883-63410883
GRCh38: 11:63643411-63643411
45 ATL3 NM_015459.5(ATL3):c.1378C>G (p.Leu460Val) SNV Uncertain significance 474833 rs1463846374 GRCh37: 11:63398673-63398673
GRCh38: 11:63631201-63631201
46 ATL3 NM_015459.5(ATL3):c.166C>T (p.Arg56Ter) SNV Uncertain significance 580103 rs527298351 GRCh37: 11:63426605-63426605
GRCh38: 11:63659133-63659133
47 ATL3 NM_015459.5(ATL3):c.940T>C (p.Ser314Pro) SNV Uncertain significance 582189 rs762851508 GRCh37: 11:63403717-63403717
GRCh38: 11:63636245-63636245
48 ATL3 NC_000011.10:g.(?_63629309)_(63671345_?)dup Duplication Uncertain significance 830997 GRCh37: 11:63396781-63438817
GRCh38:
49 ATL3 NC_000011.10:g.(?_63629309)_(63636344_?)del Deletion Uncertain significance 832469 GRCh37: 11:63396781-63403816
GRCh38:
50 ATL3 NM_015459.5(ATL3):c.1475A>T (p.Tyr492Phe) SNV Uncertain significance 639122 rs956743740 GRCh37: 11:63398576-63398576
GRCh38: 11:63631104-63631104

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory, Type if:

72
# Symbol AA change Variation ID SNP ID
1 ATL3 p.Tyr192Cys VAR_070973 rs587777108

Expression for Neuropathy, Hereditary Sensory, Type if

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory, Type if.

Pathways for Neuropathy, Hereditary Sensory, Type if

GO Terms for Neuropathy, Hereditary Sensory, Type if

Sources for Neuropathy, Hereditary Sensory, Type if

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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