HSN1D
MCID: NRP039
MIFTS: 41

Neuropathy, Hereditary Sensory, Type Id (HSN1D)

Categories: Bone diseases, Ear diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Id

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

Name: Neuropathy, Hereditary Sensory, Type Id 57 71
Hsn1d 57 11 73
Neuropathy, Hereditary Sensory, Type 1d 28 5
Hereditary Sensory Neuropathy Type 1d 11 14
Neuropathy, Sensory, Hereditary, Type Id 38
Hereditary Sensory Neuropathy Type Id 73
Neuropathy, Hereditary Sensory, 1d 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
adult onset
progressive disorder
allelic disorder to spastic paraplegia-3 (spg3, )


HPO:

30
neuropathy, hereditary sensory, type id:
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 11 DOID:0070156
OMIM® 57 613708
OMIM Phenotypic Series 57 PS162400
MeSH 43 D009477
MedGen 40 C3150972
UMLS 71 C3150972

Summaries for Neuropathy, Hereditary Sensory, Type Id

OMIM®: 57 Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400). Spastic paraplegia-3A (SPG3A; 182600) is an allelic disorder with a different phenotype. (613708) (Updated 08-Dec-2022)

MalaCards based summary: Neuropathy, Hereditary Sensory, Type Id, also known as hsn1d, is related to neuropathy, hereditary sensory, type ie and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Neuropathy, Hereditary Sensory, Type Id is ATL1 (Atlastin GTPase 1), and among its related pathways/superpathways are Signal Transduction and Class I MHC mediated antigen processing and presentation. Affiliated tissues include peripheral nerve, and related phenotypes are hyperreflexia and paresthesia

Disease Ontology: 11 A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.

UniProtKB/Swiss-Prot: 73 A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement.

Related Diseases for Neuropathy, Hereditary Sensory, Type Id

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 Id via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 31.7 SPTLC2 SPTLC1
2 neuropathy, hereditary sensory and autonomic, type v 10.2 SPTLC2 SPTLC1
3 neuropathy, hereditary sensory and autonomic, type vii 10.2 SPTLC2 SPTLC1
4 neuropathy, hereditary sensory and autonomic, type viii 10.2 SPTLC2 SPTLC1
5 neuropathy, hereditary sensory and autonomic, type ic 10.2 SPTLC2 SPTLC1
6 neuropathy, hereditary sensory and autonomic, type ia 10.2 SPTLC2 SPTLC1
7 neuronopathy, distal hereditary motor, type iib 10.2 SPTLC2 SPTLC1
8 spastic paraplegia 34, x-linked 10.2 SPAST ATL1
9 spastic paraplegia 3, autosomal dominant 10.2 SPAST ATL1
10 spastic paraplegia 62, autosomal recessive 10.2 SPAST ATL1
11 spastic paraplegia 53, autosomal recessive 10.2 SPAST ATL1
12 hereditary spastic paraplegia 49 10.2 SPAST ATL1
13 spastic paraplegia 14, autosomal recessive 10.2 SPAST ATL1
14 spastic paraplegia 6, autosomal dominant 10.2 SPAST ATL1
15 spastic paraplegia 61, autosomal recessive 10.2 SPAST ATL1
16 spastic paraplegia 31, autosomal dominant 10.2 SPAST ATL1
17 spastic paraplegia 73, autosomal dominant 10.2 SPAST ATL1
18 spastic paraplegia 57, autosomal recessive 10.2 SPAST ATL1
19 nephrotic syndrome, type 14 10.2 SPTLC2 SPTLC1
20 charcot-marie-tooth disease, type 4c 10.2 SPTLC2 DNM2
21 spastic paraplegia 18, autosomal recessive 10.2 SPAST ATL1
22 spastic paraplegia 54, autosomal recessive 10.2 SPAST ATL1
23 spastic paraplegia 8, autosomal dominant 10.2 SPAST ATL1
24 spastic paraplegia 75, autosomal recessive 10.2 SPAST KIF5A
25 spastic paraplegia 43, autosomal recessive 10.1 SPAST ATL1
26 hereditary spastic paraplegia 35 10.1 SPAST ATL1
27 spastic paraplegia 12, autosomal dominant 10.1 SPAST ATL1
28 spastic paraplegia 20, autosomal recessive 10.1 SPAST ATL1
29 hereditary sensory neuropathy 10.1 SPTLC2 SPTLC1 ATL1
30 spastic cerebral palsy 10.1 SPAST ATL1
31 paraplegia 10.1 SPAST KIF5A ATL1
32 spastic paraplegia 4, autosomal dominant 10.1 SPAST ATL1
33 hereditary spastic paraplegia 30 10.1 SPAST KIF5A ATL1
34 spastic paraplegia 42, autosomal dominant 10.0 SPAST KIF5A ATL1
35 spastic paraplegia 13, autosomal dominant 10.0 SPAST KIF5A ATL1
36 masa syndrome 10.0 SPAST KIF5A ATL1
37 spastic paraplegia 2, x-linked 10.0 SPAST KIF5A ATL1
38 spastic paraplegia 10, autosomal dominant 10.0 SPAST KIF5A ATL1
39 charcot-marie-tooth disease, x-linked dominant, 1 10.0 SPTLC2 SPTLC1
40 centronuclear myopathy 9.9 PLEK DNM2 DNM1
41 hereditary motor and sensory neuropathy, type iic 9.9 RAB7A DNM2
42 spastic paraplegia 17, autosomal dominant 9.9 SPTLC1 SPAST KIF5A ATL1
43 spastic ataxia 9.9 SPAST KIF5A ATL1
44 spinocerebellar ataxia, autosomal recessive 15 9.9 RAB7B RAB7A
45 wiskott-aldrich syndrome 9.8 VAV1 PLEK DNM3
46 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 9.8 RAB7B RAB7A
47 charcot-marie-tooth disease, axonal, type 2l 9.8 RAB7B RAB7A
48 c syndrome 9.8 RAB7B RAB7A
49 vici syndrome 9.7 RAB7B RAB7A
50 charcot-marie-tooth disease, type 4b2 9.7 RAB7B RAB7A DNM2

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory, Type Id:



Diseases related to Neuropathy, Hereditary Sensory, Type Id

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Id

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

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 30 HP:0001347
2 paresthesia 30 HP:0003401
3 pes cavus 30 HP:0001761
4 osteomyelitis 30 HP:0002754
5 nail dystrophy 30 HP:0008404
6 distal sensory impairment 30 HP:0002936
7 autoamputation of digits 30 HP:0007460
8 peripheral axonal neuropathy 30 HP:0003477
9 distal lower limb amyotrophy 30 HP:0008944
10 distal sensory impairment of all modalities 30 HP:0003409

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Peripheral Nervous System:
paresthesia
distal sensory loss of all modalities (pain, temperature, touch, vibration)
lower limbs more affected than upper limbs
sensorimotor axonal neuropathy
reflexes may be decreased, normal, or increased
more
Skeletal Feet:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy
pes cavus, mild

Skin Nails Hair Skin:
ulcers, distal, painless, due to sensory neuropathy

Neurologic Central Nervous System:
upper motor involvement (some patient)
hyperreflexia (some patients)
spasticity in infancy (1 patient)

Skeletal Hands:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

Skin Nails Hair Nails:
dystrophic nails

Muscle Soft Tissue:
distal limb muscular atrophy due to peripheral neuropathy
distal limb muscular weakness due to peripheral neuropathy

Clinical features from OMIM®:

613708 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory, Type Id:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.23 DNM1 DNM2 DNM3 KIF5A RAB7A SMAD9

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Id

Search Clinical Trials, NIH Clinical Center for Neuropathy, Hereditary Sensory, Type Id

Genetic Tests for Neuropathy, Hereditary Sensory, Type Id

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

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory, Type 1d 28 ATL1

Anatomical Context for Neuropathy, Hereditary Sensory, Type Id

Organs/tissues related to Neuropathy, Hereditary Sensory, Type Id:

ODiseA: Peripheral Nerve

Publications for Neuropathy, Hereditary Sensory, Type Id

Articles related to Neuropathy, Hereditary Sensory, Type Id:

# Title Authors PMID Year
1
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. 57 5
21194679 2011
2
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. 5
25637064 2015
3
ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 5
25761634 2015
4
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 5
24482476 2014
5
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 5
23233086 2013
6
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. 5
23079343 2013
7
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. 5
20816793 2011
8
Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. 5
20947813 2010
9
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. 5
11685207 2001

Variations for Neuropathy, Hereditary Sensory, Type Id

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

5 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATL1 NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys) SNV Pathogenic
30579 rs1555365597 GRCh37: 14:51089912-51089912
GRCh38: 14:50623194-50623194
2 ATL1 NM_015915.5(ATL1):c.976del (p.Val326fs) DEL Pathogenic
637513 rs1595619553 GRCh37: 14:51087429-51087429
GRCh38: 14:50620711-50620711
3 ATL1 NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) SNV Pathogenic
4346 rs119476046 GRCh37: 14:51080061-51080061
GRCh38: 14:50613343-50613343
4 ATL1 NM_015915.5(ATL1):c.196G>C (p.Glu66Gln) SNV Pathogenic
30580 rs200314808 GRCh37: 14:51054710-51054710
GRCh38: 14:50587992-50587992
5 ATL1 NM_015915.5(ATL1):c.1111dup (p.Met371fs) DUP Likely Pathogenic
638382 rs1566733927 GRCh37: 14:51089951-51089952
GRCh38: 14:50623233-50623234
6 ATL1 NM_015915.5(ATL1):c.169C>T (p.Leu57Phe) SNV Uncertain Significance
930242 rs2039118655 GRCh37: 14:51054683-51054683
GRCh38: 14:50587965-50587965
7 ATL1 NM_015915.5(ATL1):c.833C>T (p.Thr278Ile) SNV Uncertain Significance
931613 rs2039395853 GRCh37: 14:51081200-51081200
GRCh38: 14:50614482-50614482
8 ATL1 NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu) SNV Uncertain Significance
976249 rs2039590258 GRCh37: 14:51099014-51099014
GRCh38: 14:50632296-50632296
9 ATL1 NM_015915.5(ATL1):c.688G>A (p.Asp230Asn) SNV Uncertain Significance
444328 rs768367744 GRCh37: 14:51080034-51080034
GRCh38: 14:50613316-50613316
10 ATL1 NM_015915.5(ATL1):c.922G>A (p.Glu308Lys) SNV Uncertain Significance
425042 rs773401705 GRCh37: 14:51087376-51087376
GRCh38: 14:50620658-50620658
11 ATL1 NM_015915.5(ATL1):c.84A>G (p.Pro28=) SNV Benign
Benign
21534 rs35014209 GRCh37: 14:51054598-51054598
GRCh38: 14:50587880-50587880
12 ATL1 NM_015915.5(ATL1):c.1230G>A (p.Gly410=) SNV Benign
241074 rs148548325 GRCh37: 14:51094859-51094859
GRCh38: 14:50628141-50628141
13 ATL1, MAP4K5 NM_015915.5(ATL1):c.30T>C (p.Ser10=) SNV Benign
471249 rs146613929 GRCh37: 14:51027013-51027013
GRCh38: 14:50560295-50560295
14 ATL1 NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) SNV Benign
538585 rs145204580 GRCh37: 14:51057682-51057682
GRCh38: 14:50590964-50590964
15 ATL1 NM_015915.5(ATL1):c.991-3dup DUP Benign
422120 rs753642042 GRCh37: 14:51088549-51088550
GRCh38: 14:50621831-50621832
16 ATL1 NM_015915.5(ATL1):c.991-6T>G SNV Benign
313303 rs192428744 GRCh37: 14:51088555-51088555
GRCh38: 14:50621837-50621837
17 ATL1 NM_015915.5(ATL1):c.705C>T (p.Phe235=) SNV Benign
313300 rs35044504 GRCh37: 14:51080051-51080051
GRCh38: 14:50613333-50613333
18 ATL1 NM_015915.5(ATL1):c.693T>C (p.Gly231=) SNV Benign
313299 rs139720661 GRCh37: 14:51080039-51080039
GRCh38: 14:50613321-50613321
19 ATL1 NM_015915.5(ATL1):c.669C>T (p.Tyr223=) SNV Benign
313298 rs146975855 GRCh37: 14:51080015-51080015
GRCh38: 14:50613297-50613297
20 ATL1 NM_015915.5(ATL1):c.621G>A (p.Lys207=) SNV Benign
21533 rs35629585 GRCh37: 14:51062341-51062341
GRCh38: 14:50595623-50595623
21 ATL1 NM_015915.5(ATL1):c.630+105G>A SNV Benign
670499 rs10131107 GRCh37: 14:51062455-51062455
GRCh38: 14:50595737-50595737
22 ATL1 NM_015915.5(ATL1):c.1119+136_1119+137insAT INSERT Benign
678071 rs10626021 GRCh37: 14:51090102-51090103
GRCh38: 14:50623384-50623385
23 ATL1 NM_015915.5(ATL1):c.351G>A (p.Glu117=) SNV Benign
21530 rs1060197 GRCh37: 14:51057727-51057727
GRCh38: 14:50591009-50591009
24 ATL1 NM_015915.5(ATL1):c.408T>C (p.Asp136=) SNV Benign
313293 rs76375909 GRCh37: 14:51057784-51057784
GRCh38: 14:50591066-50591066
25 ATL1 NM_015915.5(ATL1):c.417+3A>G SNV Benign
313294 rs200310890 GRCh37: 14:51057796-51057796
GRCh38: 14:50591078-50591078
26 ATL1 NM_015915.5(ATL1):c.570C>G (p.Leu190=) SNV Benign
538584 rs202173614 GRCh37: 14:51060611-51060611
GRCh38: 14:50593893-50593893
27 ATL1 NM_015915.5(ATL1):c.*305T>C SNV Benign
313310 rs2291674 GRCh37: 14:51099362-51099362
GRCh38: 14:50632644-50632644
28 ATL1 NM_015915.5(ATL1):c.1552-24_1552-20del DEL Benign
1278312 GRCh37: 14:51096685-51096689
GRCh38: 14:50629967-50629971
29 ATL1 NM_015915.5(ATL1):c.1552-68_1552-67insATA INSERT Benign
1293178 GRCh37: 14:51096644-51096645
GRCh38: 14:50629926-50629927
30 ATL1 NM_015915.5(ATL1):c.630+7G>A SNV Benign
Benign
136428 rs3759588 GRCh37: 14:51062357-51062357
GRCh38: 14:50595639-50595639
31 ATL1 NM_015915.5(ATL1):c.418-19G>T SNV Benign
1174932 GRCh37: 14:51058234-51058234
GRCh38: 14:50591516-50591516
32 ATL1 NM_015915.5(ATL1):c.35-14G>A SNV Benign
516491 rs115722924 GRCh37: 14:51054535-51054535
GRCh38: 14:50587817-50587817
33 ATL1 NM_015915.5(ATL1):c.1635A>G (p.Pro545=) SNV Benign
883385 rs191729308 GRCh37: 14:51099015-51099015
GRCh38: 14:50632297-50632297
34 ATL1 NM_015915.5(ATL1):c.921C>T (p.Pro307=) SNV Benign
994783 rs535790981 GRCh37: 14:51087375-51087375
GRCh38: 14:50620657-50620657

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

73
# Symbol AA change Variation ID SNP ID
1 ATL1 p.Glu66Gln VAR_065508 rs200314808
2 ATL1 p.Asn355Lys VAR_065510 rs1555365597

Expression for Neuropathy, Hereditary Sensory, Type Id

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

Pathways for Neuropathy, Hereditary Sensory, Type Id

Pathways related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1 13.39 VAV1 SMAD9 RAB7A KIF5A DNM3 DNM2
2
Show member pathways
13.17 VAV1 RAB7A KIF5A DNM3 DNM2 DNM1
3
Show member pathways
12.85 RAB7B RAB7A KIF5A DNM3 DNM2 DNM1
4
Show member pathways
12.66 RAB7A KIF5A DNM3 DNM2 DNM1
5 12.5 VAV1 DNM3 DNM2 DNM1
6
Show member pathways
12.11 DNM3 DNM2 DNM1
7
Show member pathways
11.96 DNM3 DNM2 DNM1
8 11.84 VAV1 RAB7A DNM2 DNM1 ATL1
9 11.5 DNM3 DNM2 DNM1
10 11.12 VAV1 RAB7B RAB7A DNM2 DNM1
11
Show member pathways
11.07 DNM2 DNM1
12 11.04 DNM3 DNM2 DNM1
13 10.93 RAB7A DNM2
14
Show member pathways
10.55 SPTLC1 SPTLC2

GO Terms for Neuropathy, Hereditary Sensory, Type Id

Cellular components related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle membrane GO:0030670 9.63 RAB7B RAB7A DNM2
2 microtubule GO:0005874 9.32 SPAST KIF5A DNM3 DNM2 DNM1
3 serine C-palmitoyltransferase complex GO:0017059 9.26 SPTLC2 SPTLC1

Biological processes related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.92 DNM1 DNM2 DNM3 RAB7A
2 synaptic vesicle transport GO:0048489 9.76 KIF5A DNM2
3 sphingosine biosynthetic process GO:0046512 9.73 SPTLC2 SPTLC1
4 phagosome-lysosome fusion GO:0090385 9.71 RAB7B RAB7A
5 sphingomyelin biosynthetic process GO:0006686 9.67 SPTLC2 SPTLC1
6 receptor internalization GO:0031623 9.63 DNM3 DNM2 DNM1
7 positive regulation of lipophagy GO:1904504 9.56 SPTLC2 SPTLC1
8 synaptic vesicle endocytosis GO:0048488 9.43 DNM3 DNM2 DNM1
9 sphinganine biosynthetic process GO:0046511 8.92 SPTLC2 SPTLC1

Molecular functions related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.96 SPAST KIF5A DNM3 DNM2 DNM1
2 GTP binding GO:0005525 9.93 ATL1 DNM1 DNM2 DNM3 RAB7A RAB7B
3 nitric-oxide synthase binding GO:0050998 9.67 DNM3 DNM2
4 serine C-palmitoyltransferase activity GO:0004758 9.62 SPTLC2 SPTLC1
5 nucleotide binding GO:0000166 9.56 SPAST RAB7B RAB7A KIF5A DNM3 DNM2
6 GTPase activity GO:0003924 9.4 RAB7B RAB7A DNM3 DNM2 DNM1 ATL1

Sources for Neuropathy, Hereditary Sensory, Type Id

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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