HSN1D
MCID: NRP039
MIFTS: 41

Neuropathy, Hereditary Sensory, Type Id (HSN1D)

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

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Id

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

Name: Neuropathy, Hereditary Sensory, Type Id 57 13 70
Hereditary Sensory Neuropathy Type 1d 12 29 6 15
Hsn1d 57 12 72
Neuropathy, Sensory, Hereditary, Type Id 39
Hereditary Sensory Neuropathy Type Id 72
Neuropathy, Hereditary Sensory, 1d 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
progressive disorder
allelic disorder to spastic paraplegia-3 (spg3, )

Inheritance:
autosomal dominant


HPO:

31
neuropathy, hereditary sensory, type id:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070156
OMIM® 57 613708
OMIM Phenotypic Series 57 PS162400
MeSH 44 D009477
MedGen 41 C3150972
UMLS 70 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 20-May-2021)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type Id, also known as hereditary sensory neuropathy type 1d, is related to neuropathy, hereditary sensory, type ie and neuropathy, hereditary sensory and autonomic, type ic. An important gene associated with Neuropathy, Hereditary Sensory, Type Id is ATL1 (Atlastin GTPase 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Vesicle-mediated transport. Related phenotypes are hyperreflexia and paresthesia

Disease Ontology : 12 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 : 72 Neuropathy, hereditary sensory, 1D: 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 56)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 31.7 SPTLC2 SPTLC1
2 neuropathy, hereditary sensory and autonomic, type ic 10.2 SPTLC2 SPTLC1
3 hereditary spastic paraplegia 72 10.2 SPAST ATL1
4 neuropathy, hereditary sensory and autonomic, type ia 10.2 SPTLC2 SPTLC1
5 spastic paraplegia 14, autosomal recessive 10.2 SPAST ATL1
6 charcot-marie-tooth disease, dominant intermediate c 10.2 SPTLC1 DNM2
7 spastic paraplegia 61, autosomal recessive 10.2 SPAST ATL1
8 spastic paraplegia 33, autosomal dominant 10.2 SPAST ATL1
9 spastic paraplegia 41, autosomal dominant 10.2 SPAST KIF5A
10 spastic paraplegia 43, autosomal recessive 10.1 SPAST ATL1
11 nephrotic syndrome, type 14 10.1 SPTLC2 SPTLC1
12 spastic paraplegia 48, autosomal recessive 10.1 SPAST ATL1
13 spastic paraplegia 5a, autosomal recessive 10.1 SPAST KIF5A
14 spastic paraplegia 39, autosomal recessive 10.1 SPAST ATL1
15 spastic paraplegia 42, autosomal dominant 10.1 SPAST ATL1
16 charcot-marie-tooth disease intermediate type 10.1 PLEK DNM2
17 spastic paraplegia 20, autosomal recessive 10.1 SPAST ATL1
18 pure hereditary spastic paraplegia 10.1 SPAST KIF5A ATL1
19 hereditary spastic paraplegia 30 10.1 SPAST KIF5A ATL1
20 spastic paraplegia 12, autosomal dominant 10.1 SPAST KIF5A ATL1
21 spastic paraplegia 6, autosomal dominant 10.1 SPAST KIF5A ATL1
22 spastic paraplegia 31, autosomal dominant 10.1 SPAST KIF5A ATL1
23 spastic paraplegia 13, autosomal dominant 10.1 SPAST KIF5A ATL1
24 spastic paraplegia 15, autosomal recessive 10.1 SPAST KIF5A ATL1
25 spastic paraplegia 8, autosomal dominant 10.0 SPAST KIF5A ATL1
26 spastic paraplegia 10, autosomal dominant 10.0 SPAST KIF5A ATL1
27 spastic paraplegia 4, autosomal dominant 10.0 SPAST KIF5A ATL1
28 masa syndrome 10.0 SPAST KIF5A ATL1
29 spastic paraplegia 17, autosomal dominant 10.0 SPAST KIF5A ATL1
30 spastic paraplegia 2, x-linked 10.0 SPAST KIF5A ATL1
31 leukodystrophy, hypomyelinating, 12 9.9 RAB7B RAB7A
32 centronuclear myopathy 9.8 PLEK DNM3 DNM2 DNM1
33 myopathy, centronuclear, 1 9.8 PLEK DNM3 DNM2 DNM1
34 charcot-marie-tooth disease, type 4b1 9.8 RAB7A DNM2
35 hereditary motor and sensory neuropathy, type iic 9.8 RAB7B RAB7A DNM2
36 cataract 8, multiple types 9.7 RAB7B RAB7A DNM2
37 charcot-marie-tooth disease, type 4j 9.7 RAB7B RAB7A
38 charcot-marie-tooth disease, type 4b2 9.7 RAB7B RAB7A DNM2
39 charcot-marie-tooth disease, axonal, type 2l 9.7 SPTLC1 RAB7B RAB7A
40 vici syndrome 9.7 RAB7B RAB7A
41 hereditary sensory and autonomic neuropathy type 1 9.7 SPTLC2 SPTLC1 RAB7A ATL1
42 hereditary sensory neuropathy 9.7 SPTLC2 SPTLC1 RAB7A ATL1
43 legionnaire disease 9.6 RAB7B RAB7A
44 charcot-marie-tooth disease, demyelinating, type 1c 9.6 SPTLC2 RAB7B RAB7A DNM2
45 charcot-marie-tooth disease, axonal, type 2b 9.6 SPTLC1 RAB7B RAB7A DNM2
46 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 9.6 SPTLC2 SPTLC1 RAB7B RAB7A
47 peripheral nervous system disease 9.5 SPTLC1 RAB7B RAB7A DNM2
48 neuropathy, hereditary sensory and autonomic, type iia 9.5 SPTLC2 SPTLC1 RAB7B RAB7A
49 warburg micro syndrome 9.5 RAB7B RAB7A
50 charcot-marie-tooth disease and deafness 9.4 SPTLC2 SPTLC1 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 occasional (7.5%) HP:0001347
2 paresthesia 31 HP:0003401
3 pes cavus 31 HP:0001761
4 osteomyelitis 31 HP:0002754
5 nail dysplasia 31 HP:0002164
6 nail dystrophy 31 HP:0008404
7 distal sensory impairment 31 HP:0002936
8 distal amyotrophy 31 HP:0003693
9 peripheral axonal neuropathy 31 HP:0003477
10 distal sensory loss of all modalities 31 HP:0006984
11 autoamputation 31 HP:0001218

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

46
# 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 Hereditary Sensory Neuropathy Type 1d 29 ATL1

Anatomical Context for Neuropathy, Hereditary Sensory, Type Id

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

Variations for Neuropathy, Hereditary Sensory, Type Id

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATL1 NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) SNV Pathogenic 30579 rs1555365597 GRCh37: 14:51089912-51089912
GRCh38: 14:50623194-50623194
2 ATL1 NM_001127713.1(ATL1):c.196G>C (p.Glu66Gln) SNV Pathogenic 30580 rs200314808 GRCh37: 14:51054710-51054710
GRCh38: 14:50587992-50587992
3 ATL1 NM_015915.5(ATL1):c.976del (p.Val326fs) Deletion Pathogenic 637513 rs1595619553 GRCh37: 14:51087429-51087429
GRCh38: 14:50620711-50620711
4 ATL1 NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) SNV Pathogenic 4346 rs119476046 GRCh37: 14:51080061-51080061
GRCh38: 14:50613343-50613343
5 ATL1 NM_015915.5(ATL1):c.1111dup (p.Met371fs) Duplication Likely pathogenic 638382 rs1566733927 GRCh37: 14:51089951-51089952
GRCh38: 14:50623233-50623234
6 ATL1 NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu) SNV Uncertain significance 976249 GRCh37: 14:51099014-51099014
GRCh38: 14:50632296-50632296
7 ATL1 NM_015915.5(ATL1):c.169C>T (p.Leu57Phe) SNV Uncertain significance 930242 GRCh37: 14:51054683-51054683
GRCh38: 14:50587965-50587965
8 ATL1 NM_015915.5(ATL1):c.833C>T (p.Thr278Ile) SNV Uncertain significance 931613 GRCh37: 14:51081200-51081200
GRCh38: 14:50614482-50614482
9 ATL1 NM_001127713.1(ATL1):c.922G>A (p.Glu308Lys) SNV Uncertain significance 425042 rs773401705 GRCh37: 14:51087376-51087376
GRCh38: 14:50620658-50620658
10 ATL1 NM_001127713.1(ATL1):c.630+7G>A SNV Benign 136428 rs3759588 GRCh37: 14:51062357-51062357
GRCh38: 14:50595639-50595639
11 ATL1 NM_001127713.1(ATL1):c.84A>G (p.Pro28=) SNV Benign 21534 rs35014209 GRCh37: 14:51054598-51054598
GRCh38: 14:50587880-50587880

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

72
# Symbol AA change Variation ID SNP ID
1 ATL1 p.Glu66Gln VAR_065508 rs200314808
2 ATL1 p.Asn355Lys VAR_065510 rs155536559

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
Show member pathways
13.17 VAV1 RAB7A KIF5A DNM3 DNM2 DNM1
2
Show member pathways
13.04 RAB7B RAB7A KIF5A DNM3 DNM2 DNM1
3
Show member pathways
12.47 RAB7B RAB7A KIF5A DNM2
4 12.14 VAV1 RAB7A DNM2 DNM1 ATL1
5
Show member pathways
12.09 DNM3 DNM2 DNM1
6 11.96 RAB7A KIF5A DNM3 DNM2 DNM1
7
Show member pathways
11.78 DNM3 DNM2 DNM1
8
Show member pathways
11.75 DNM3 DNM2 DNM1
9
Show member pathways
11.5 DNM3 DNM2 DNM1
10 11.47 DNM3 DNM2 DNM1
11 11.46 VAV1 RAB7B RAB7A DNM2 DNM1
12 11.36 DNM3 DNM2 DNM1
13 11.22 DNM3 DNM2 DNM1
14 11.03 RAB7A KIF5A DNM3 DNM2 DNM1

GO Terms for Neuropathy, Hereditary Sensory, Type Id

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.25 SPTLC2 SPTLC1 SPAST RAB7B RAB7A PLEK
2 axon GO:0030424 9.76 DNM3 DNM2 DNM1 ATL1
3 cytoplasmic vesicle GO:0031410 9.73 SPAST RAB7B RAB7A DNM3 DNM2 DNM1
4 mitochondrial membrane GO:0031966 9.67 DNM3 DNM2 DNM1
5 presynapse GO:0098793 9.65 DNM3 DNM2 DNM1
6 microtubule cytoskeleton GO:0015630 9.62 SPAST DNM3 DNM2 DNM1
7 phagocytic vesicle membrane GO:0030670 9.58 RAB7B RAB7A DNM2
8 microtubule GO:0005874 9.55 SPAST KIF5A DNM3 DNM2 DNM1
9 endoplasmic reticulum tubular network GO:0071782 9.43 SPAST ATL1
10 serine C-palmitoyltransferase complex GO:0017059 9.37 SPTLC2 SPTLC1
11 dendritic spine head GO:0044327 9.13 DNM3 DNM2 DNM1
12 postsynaptic endocytic zone membrane GO:0098844 8.8 DNM3 DNM2 DNM1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.8 RAB7A DNM3 DNM2 DNM1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.7 RAB7A KIF5A DNM2
3 membrane fusion GO:0061025 9.63 DNM3 DNM2 DNM1
4 receptor internalization GO:0031623 9.61 DNM3 DNM2 DNM1
5 biosynthetic process GO:0009058 9.58 SPTLC2 SPTLC1
6 ceramide biosynthetic process GO:0046513 9.57 SPTLC2 SPTLC1
7 synaptic vesicle transport GO:0048489 9.56 KIF5A DNM2
8 sphingosine biosynthetic process GO:0046512 9.55 SPTLC2 SPTLC1
9 G protein-coupled receptor internalization GO:0002031 9.54 DNM2 DNM1
10 mitochondrial fission GO:0000266 9.54 DNM3 DNM2 DNM1
11 phagosome-lysosome fusion GO:0090385 9.51 RAB7B RAB7A
12 regulation of synapse structure or activity GO:0050803 9.5 DNM3 DNM2 DNM1
13 positive regulation of lipophagy GO:1904504 9.48 SPTLC2 SPTLC1
14 postsynaptic neurotransmitter receptor internalization GO:0098884 9.43 DNM3 DNM2 DNM1
15 positive regulation of synaptic vesicle recycling GO:1903423 9.4 DNM3 DNM1
16 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.33 DNM3 DNM2 DNM1
17 organelle fission GO:0048285 9.13 DNM3 DNM2 DNM1
18 synaptic vesicle budding from presynaptic endocytic zone membrane GO:0016185 8.8 DNM3 DNM2 DNM1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.92 SPAST RAB7B RAB7A KIF5A DNM3 DNM2
2 microtubule binding GO:0008017 9.65 SPAST KIF5A DNM3 DNM2 DNM1
3 GTP binding GO:0005525 9.43 RAB7B RAB7A DNM3 DNM2 DNM1 ATL1
4 D2 dopamine receptor binding GO:0031749 9.4 DNM2 DNM1
5 serine C-palmitoyltransferase activity GO:0004758 9.37 SPTLC2 SPTLC1
6 nitric-oxide synthase binding GO:0050998 9.33 DNM3 DNM2 DNM1
7 GTPase activity GO:0003924 9.1 RAB7B RAB7A DNM3 DNM2 DNM1 ATL1

Sources for Neuropathy, Hereditary Sensory, Type Id

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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