HSN1D
MCID: NRP039
MIFTS: 23

Neuropathy, Hereditary Sensory, Type Id (HSN1D)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental 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 73
Hereditary Sensory Neuropathy Type 1d 12 29 6
Hsn1d 57 12 75
Neuropathy, Sensory, Hereditary, Type Id 40
Hereditary Sensory Neuropathy Type Id 75
Neuropathy, Hereditary Sensory, 1d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
progressive disorder
allelic disorder to spastic paraplegia-3 (spg3, )


HPO:

32
neuropathy, hereditary sensory, type id:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type Id, also known as hereditary sensory neuropathy type 1d, is related to neuropathy, hereditary sensory, type ie. An important gene associated with Neuropathy, Hereditary Sensory, Type Id is ATL1 (Atlastin GTPase 1). Affiliated tissues include bone, and related phenotypes are hyperreflexia and nail dystrophy

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 : 75 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
Sensory Neuropathy Type 1

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

# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 11.1

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Id

Symptoms via clinical synopsis from OMIM:

57
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 Hands:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

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)

Skin Nails Hair Nails:
dystrophic nails

Skeletal Feet:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy
pes cavus, mild

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


Clinical features from OMIM:

613708

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 occasional (7.5%) HP:0001347
2 nail dystrophy 32 HP:0008404
3 pes cavus 32 HP:0001761
4 paresthesia 32 HP:0003401
5 osteomyelitis 32 HP:0002754
6 nail dysplasia 32 HP:0002164
7 peripheral axonal neuropathy 32 HP:0003477
8 distal sensory loss of all modalities 32 HP:0006984
9 distal amyotrophy 32 HP:0003693
10 distal sensory impairment 32 HP:0002936
11 autoamputation 32 HP:0001218

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

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

41
Bone

Publications for Neuropathy, Hereditary Sensory, Type Id

Variations for Neuropathy, Hereditary Sensory, Type Id

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

75
# Symbol AA change Variation ID SNP ID
1 ATL1 p.Glu66Gln VAR_065508 rs200314808
2 ATL1 p.Asn355Lys VAR_065510

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

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh37 Chromosome 14, 51054598: 51054598
2 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh38 Chromosome 14, 50587880: 50587880
3 ATL1 NM_015915.4(ATL1): c.1065C> A (p.Asn355Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 51089912: 51089912
4 ATL1 NM_015915.4(ATL1): c.1065C> A (p.Asn355Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 50623194: 50623194
5 ATL1 NM_015915.4(ATL1): c.196G> C (p.Glu66Gln) single nucleotide variant Uncertain significance rs200314808 GRCh37 Chromosome 14, 51054710: 51054710
6 ATL1 NM_015915.4(ATL1): c.196G> C (p.Glu66Gln) single nucleotide variant Uncertain significance rs200314808 GRCh38 Chromosome 14, 50587992: 50587992
7 ATL1 ATL1, 1-BP DEL, 976G deletion Pathogenic
8 ATL1 NM_015915.4(ATL1): c.630+7G> A single nucleotide variant Benign rs3759588 GRCh37 Chromosome 14, 51062357: 51062357
9 ATL1 NM_015915.4(ATL1): c.630+7G> A single nucleotide variant Benign rs3759588 GRCh38 Chromosome 14, 50595639: 50595639
10 ATL1 NM_015915.4(ATL1): c.1065C> A (p.Asn355Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 50623194: 50623194
11 ATL1 NM_015915.4(ATL1): c.1065C> A (p.Asn355Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 51089912: 51089912

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

GO Terms for Neuropathy, Hereditary Sensory, Type Id

Sources for Neuropathy, Hereditary Sensory, Type Id

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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