MCID: NRP036
MIFTS: 21

Neuropathy, Hereditary Sensory, Type if

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Ear diseases, Fetal diseases, Mental 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 73
Hereditary Sensory Neuropathy Type if 12 75 29 6
Hsn1f 57 12 75
Hsn if 57 75
Neuropathy, Sensory, Hereditary, Type if 40
Hereditary Sensory Neuropathy Type 1f 12
Neuropathy, Hereditary Sensory, 1f 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neuropathy, hereditary sensory, type if:
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type if, is also known as hereditary sensory neuropathy type if. An important gene associated with Neuropathy, Hereditary Sensory, Type if is ATL3 (Atlastin GTPase 3). Affiliated tissues include bone, and related phenotypes are hyperkeratosis and sensory axonal neuropathy

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 1 characterized by sensory loss in the lower limbs developing in the second or third decade of life but absence of autonomic involvement that has material basis in heterozygous mutation in the ATL3 gene on chromosome 11q13.

Related Diseases for Neuropathy, Hereditary Sensory, Type if

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type if

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperkeratosis
ulcers, distal, painless, due to sensory neuropathy
foot calluses
plantar ulcers

Skeletal Feet:
osteomyelitis
hallux valgus
acroosteolysis
foot arthropathy
bony destruction
more
Neurologic Peripheral Nervous System:
sensory axonal neuropathy
absent ankle jerks
hyporeflexia of the lower limbs
distal sensory impairment to pain, temperature, and touch, lower limbs


Clinical features from OMIM:

615632

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 sensory axonal neuropathy 32 HP:0003390
3 osteomyelitis 32 HP:0002754
4 hallux valgus 32 HP:0001822
5 osteolytic defects of the phalanges of the hand 32 HP:0009771
6 hyporeflexia of lower limbs 32 HP:0002600

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type if

Search Clinical Trials , 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:

41
Bone

Publications for Neuropathy, Hereditary Sensory, Type if

Variations for Neuropathy, Hereditary Sensory, Type if

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

75
# Symbol AA change Variation ID SNP ID
1 ATL3 p.Tyr192Cys VAR_070973 rs587777108

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

6
(show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATL3 NM_001290048.1(ATL3): c.521A> G (p.Tyr174Cys) single nucleotide variant Pathogenic rs587777108 GRCh37 Chromosome 11, 63414022: 63414022
2 ATL3 NM_001290048.1(ATL3): c.521A> G (p.Tyr174Cys) single nucleotide variant Pathogenic rs587777108 GRCh38 Chromosome 11, 63646550: 63646550
3 ATL3 NC_000011.10: g.(?_63629299)_(63629425_?)del deletion Uncertain significance GRCh38 Chromosome 11, 63629299: 63629425
4 ATL3 NC_000011.10: g.(?_63629299)_(63629425_?)del deletion Uncertain significance GRCh37 Chromosome 11, 63396771: 63396897
5 ATL3 NM_015459.4(ATL3): c.1599A> G (p.Arg533=) single nucleotide variant Benign rs201636843 GRCh37 Chromosome 11, 63396818: 63396818
6 ATL3 NM_015459.4(ATL3): c.1599A> G (p.Arg533=) single nucleotide variant Benign rs201636843 GRCh38 Chromosome 11, 63629346: 63629346
7 ATL3 NM_015459.4(ATL3): c.1521C> T (p.Ala507=) single nucleotide variant Likely benign rs200026815 GRCh37 Chromosome 11, 63398530: 63398530
8 ATL3 NM_015459.4(ATL3): c.1521C> T (p.Ala507=) single nucleotide variant Likely benign rs200026815 GRCh38 Chromosome 11, 63631058: 63631058
9 ATL3 NM_015459.4(ATL3): c.1501G> A (p.Gly501Arg) single nucleotide variant Benign rs112847445 GRCh37 Chromosome 11, 63398550: 63398550
10 ATL3 NM_015459.4(ATL3): c.1501G> A (p.Gly501Arg) single nucleotide variant Benign rs112847445 GRCh38 Chromosome 11, 63631078: 63631078
11 ATL3 NM_015459.4(ATL3): c.373G> A (p.Val125Ile) single nucleotide variant Likely benign rs200918566 GRCh38 Chromosome 11, 63658793: 63658793
12 ATL3 NM_015459.4(ATL3): c.1378C> G (p.Leu460Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 63631201: 63631201
13 ATL3 NM_015459.4(ATL3): c.1378C> G (p.Leu460Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 63398673: 63398673
14 ATL3 NM_001290048.1(ATL3): c.924+7dup duplication Benign GRCh37 Chromosome 11, 63403672: 63403672
15 ATL3 NM_001290048.1(ATL3): c.924+7dup duplication Benign GRCh38 Chromosome 11, 63636200: 63636200
16 ATL3 NM_015459.4(ATL3): c.373G> A (p.Val125Ile) single nucleotide variant Likely benign rs200918566 GRCh37 Chromosome 11, 63426265: 63426265
17 ATL3 NM_015459.4(ATL3): c.978+9G> A single nucleotide variant Benign rs3781606 GRCh37 Chromosome 11, 63403670: 63403670
18 ATL3 NM_015459.4(ATL3): c.978+9G> A single nucleotide variant Benign rs3781606 GRCh38 Chromosome 11, 63636198: 63636198
19 ATL3 NM_015459.4(ATL3): c.1374A> G (p.Ser458=) single nucleotide variant Benign rs17158455 GRCh38 Chromosome 11, 63631205: 63631205
20 ATL3 NM_015459.4(ATL3): c.1374A> G (p.Ser458=) single nucleotide variant Benign rs17158455 GRCh37 Chromosome 11, 63398677: 63398677
21 ATL3 NM_015459.4(ATL3): c.642T> C (p.Asp214=) single nucleotide variant Benign rs151040560 GRCh37 Chromosome 11, 63411710: 63411710
22 ATL3 NM_015459.4(ATL3): c.642T> C (p.Asp214=) single nucleotide variant Benign rs151040560 GRCh38 Chromosome 11, 63644238: 63644238
23 ATL3 NM_015459.4(ATL3): c.418C> T (p.Leu140=) single nucleotide variant Benign rs34261014 GRCh38 Chromosome 11, 63652563: 63652563
24 ATL3 NM_015459.4(ATL3): c.418C> T (p.Leu140=) single nucleotide variant Benign rs34261014 GRCh37 Chromosome 11, 63420035: 63420035
25 ATL3 NM_015459.4(ATL3): c.1434A> G (p.Gly478=) single nucleotide variant Benign rs189119869 GRCh37 Chromosome 11, 63398617: 63398617
26 ATL3 NM_015459.4(ATL3): c.1434A> G (p.Gly478=) single nucleotide variant Benign rs189119869 GRCh38 Chromosome 11, 63631145: 63631145
27 ATL3 NM_015459.4(ATL3): c.853A> G (p.Ile285Val) single nucleotide variant Uncertain significance rs1031320296 GRCh38 Chromosome 11, 63636332: 63636332
28 ATL3 NM_015459.4(ATL3): c.853A> G (p.Ile285Val) single nucleotide variant Uncertain significance rs1031320296 GRCh37 Chromosome 11, 63403804: 63403804
29 ATL3 NM_015459.4(ATL3): c.796C> A (p.Pro266Thr) single nucleotide variant Uncertain significance rs1052779395 GRCh38 Chromosome 11, 63643411: 63643411
30 ATL3 NM_015459.4(ATL3): c.796C> A (p.Pro266Thr) single nucleotide variant Uncertain significance rs1052779395 GRCh37 Chromosome 11, 63410883: 63410883
31 ATL3 NM_015459.4(ATL3): c.712G> A (p.Val238Met) single nucleotide variant Uncertain significance rs745535328 GRCh38 Chromosome 11, 63643495: 63643495
32 ATL3 NM_015459.4(ATL3): c.712G> A (p.Val238Met) single nucleotide variant Uncertain significance rs745535328 GRCh37 Chromosome 11, 63410967: 63410967
33 ATL3 NM_015459.4(ATL3): c.581G> A (p.Arg194His) single nucleotide variant Uncertain significance rs750850786 GRCh38 Chromosome 11, 63646544: 63646544
34 ATL3 NM_015459.4(ATL3): c.581G> A (p.Arg194His) single nucleotide variant Uncertain significance rs750850786 GRCh37 Chromosome 11, 63414016: 63414016
35 ATL3 NM_015459.4(ATL3): c.1451T> C (p.Leu484Pro) single nucleotide variant Uncertain significance rs773136140 GRCh37 Chromosome 11, 63398600: 63398600
36 ATL3 NM_015459.4(ATL3): c.1522G> A (p.Ala508Thr) single nucleotide variant Uncertain significance rs183951324 GRCh38 Chromosome 11, 63631057: 63631057
37 ATL3 NM_015459.4(ATL3): c.1522G> A (p.Ala508Thr) single nucleotide variant Uncertain significance rs183951324 GRCh37 Chromosome 11, 63398529: 63398529
38 ATL3 NM_015459.4(ATL3): c.1451T> C (p.Leu484Pro) single nucleotide variant Uncertain significance rs773136140 GRCh38 Chromosome 11, 63631128: 63631128
39 ATL3 NM_015459.4(ATL3): c.5_7delTGTinsCTG (p.Leu2_Ser3delinsSerAla) indel Uncertain significance GRCh38 Chromosome 11, 63671329: 63671331
40 ATL3 NM_015459.4(ATL3): c.5_7delTGTinsCTG (p.Leu2_Ser3delinsSerAla) indel Uncertain significance GRCh37 Chromosome 11, 63438801: 63438803
41 ATL3 NM_015459.4(ATL3): c.1609G> A (p.Asp537Asn) single nucleotide variant Uncertain significance rs201433550 GRCh37 Chromosome 11, 63396808: 63396808
42 ATL3 NM_015459.4(ATL3): c.1609G> A (p.Asp537Asn) single nucleotide variant Uncertain significance rs201433550 GRCh38 Chromosome 11, 63629336: 63629336
43 ATL3 NM_015459.4(ATL3): c.1587A> G (p.Ala529=) single nucleotide variant Likely benign rs764146494 GRCh37 Chromosome 11, 63396830: 63396830
44 ATL3 NM_015459.4(ATL3): c.1587A> G (p.Ala529=) single nucleotide variant Likely benign rs764146494 GRCh38 Chromosome 11, 63629358: 63629358
45 ATL3 NM_015459.4(ATL3): c.1329C> G (p.Thr443=) single nucleotide variant Benign rs201059472 GRCh37 Chromosome 11, 63398722: 63398722
46 ATL3 NM_015459.4(ATL3): c.1329C> G (p.Thr443=) single nucleotide variant Benign rs201059472 GRCh38 Chromosome 11, 63631250: 63631250
47 ATL3 NM_015459.4(ATL3): c.854T> C (p.Ile285Thr) single nucleotide variant Uncertain significance rs769032474 GRCh38 Chromosome 11, 63636331: 63636331
48 ATL3 NM_015459.4(ATL3): c.854T> C (p.Ile285Thr) single nucleotide variant Uncertain significance rs769032474 GRCh37 Chromosome 11, 63403803: 63403803
49 ATL3 NM_015459.4(ATL3): c.703C> T (p.Arg235Cys) single nucleotide variant Uncertain significance rs913464202 GRCh37 Chromosome 11, 63411649: 63411649
50 ATL3 NM_015459.4(ATL3): c.703C> T (p.Arg235Cys) single nucleotide variant Uncertain significance rs913464202 GRCh38 Chromosome 11, 63644177: 63644177

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....