HSAN6
MCID: NRP038
MIFTS: 42

Neuropathy, Hereditary Sensory and Autonomic, Type Vi (HSAN6)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Vi 57 29 13 6 70
Hsan6 57 12 58 72
Hereditary Sensory and Autonomic Neuropathy Type 6 12 58 15
Hereditary Sensory and Autonomic Neuropathy Type Vi 12 58
Hsan Vi 57 72
Neuropathy, Sensory and Autonomic, Hereditary, Type Vi 39
Neuropathy, Hereditary Sensory and Autonomic, 6 72
Familial Dysautonomia with Contractures 58
Hereditary Sensory Neuropathy Type Vi 72
Hsn Vi 72

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)
death by age 2 years


HPO:

31
neuropathy, hereditary sensory and autonomic, type vi:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

UniProtKB/Swiss-Prot : 72 Neuropathy, hereditary sensory and autonomic, 6: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Vi, also known as hsan6, is related to neuropathy and ataxia and polyneuropathy, adult-onset. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vi is DST (Dystonin). Affiliated tissues include eye, tongue and smooth muscle, and related phenotypes are high palate and low-set ears

Disease Ontology : 12 A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has material basis in homozygous mutation in the DST gene on chromosome 6p12.

OMIM® : 57 Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). (614653) (Updated 20-May-2021)

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 high palate 31 occasional (7.5%) HP:0000218
2 low-set ears 31 occasional (7.5%) HP:0000369
3 short chin 31 occasional (7.5%) HP:0000331
4 hyperhidrosis 31 HP:0000975
5 respiratory insufficiency 31 HP:0002093
6 neonatal hypotonia 31 HP:0001319
7 flexion contracture 31 HP:0001371
8 fever 31 HP:0001945
9 growth delay 31 HP:0001510
10 talipes equinovarus 31 HP:0001762
11 open mouth 31 HP:0000194
12 areflexia 31 HP:0001284
13 apnea 31 HP:0002104
14 sensory neuropathy 31 HP:0000763
15 feeding difficulties 31 HP:0011968
16 alacrima 31 HP:0000522
17 tachycardia 31 HP:0001649
18 hand clenching 31 HP:0001188
19 corneal scarring 31 HP:0000559
20 bradycardia 31 HP:0001662
21 limited hip extension 31 HP:0003093
22 blotching pigmentation of the skin 31 HP:0007610

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
respiratory insufficiency
episodic apnea
poor respiratory effort

Head And Neck Eyes:
alacrima
corneal scarring
decreased or absent corneal reflexes

Skeletal Pelvis:
limited hip extension

Skeletal Feet:
club feet

Skeletal Hands:
clenched hands

Growth Other:
poor growth

Head And Neck Mouth:
high-arched palate (1 patient)
persistently open mouth
decreased fungiform papillae on the tongue

Head And Neck Face:
paucity of facial expression
small chin (1 patient)

Metabolic Features:
unexplained fever

Neurologic Central Nervous System:
areflexia
autonomic symptoms
lack of neurologic development
decreased pain response

Cardiovascular Heart:
tachycardia
bradycardia

Skeletal:
joint contractures

Abdomen Gastrointestinal:
poor feeding

Muscle Soft Tissue:
hypotonia, neonatal

Skin Nails Hair Skin:
absent axonal flare response after intradermal histamine injection
erythematous blotching, episodic
sweating, episodic

Cardiovascular Vascular:
vasomotor instability
labile blood pressure

Head And Neck Ears:
low-set ears (1 patient)

Clinical features from OMIM®:

614653 (Updated 20-May-2021)

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 29 DST

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

40
Eye, Tongue, Smooth Muscle

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

# Title Authors PMID Year
1
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. 6 57
22522446 2012
2
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 6
25059916 2015
3
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. 6
20164846 2010
4
BPAG1 in muscles: Structure and function in skeletal, cardiac and smooth muscle. 61
28736206 2017

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

6 (show top 50) (show all 1281)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DST NM_015548.5(DST):c.13887del (p.Ala4630fs) Deletion Pathogenic 31619 rs398122819 GRCh37: 6:56341055-56341055
GRCh38: 6:56476257-56476257
2 DST NM_015548.5(DST):c.775C>T (p.Arg259Ter) SNV Pathogenic 641493 rs376491126 GRCh37: 6:56505045-56505045
GRCh38: 6:56640247-56640247
3 DST NC_000006.12:g.(?_56458995)_(56642798_?)del Deletion Pathogenic 833186 GRCh37: 6:56323793-56507596
GRCh38:
4 DST NM_015548.5(DST):c.2303del (p.Leu768fs) Deletion Pathogenic 836793 GRCh37: 6:56496730-56496730
GRCh38: 6:56631932-56631932
5 DST NM_015548.5(DST):c.3319-4830C>T SNV Pathogenic 847629 GRCh37: 6:56484112-56484112
GRCh38: 6:56619314-56619314
6 DST NM_015548.5(DST):c.3318+4140_3318+4144del Deletion Pathogenic 861578 GRCh37: 6:56485184-56485188
GRCh38: 6:56620386-56620390
7 DST NM_015548.5(DST):c.3319-4134C>T SNV Pathogenic 862868 GRCh37: 6:56483416-56483416
GRCh38: 6:56618618-56618618
8 DST NM_015548.5(DST):c.3040G>T (p.Glu1014Ter) SNV Pathogenic 665283 rs375889300 GRCh37: 6:56492073-56492073
GRCh38: 6:56627275-56627275
9 DST NM_015548.5(DST):c.8989del (p.Val2997fs) Deletion Pathogenic 665690 rs1584328172 GRCh37: 6:56400003-56400003
GRCh38: 6:56535205-56535205
10 DST NM_015548.5(DST):c.3319-3975C>T SNV Pathogenic 953197 GRCh37: 6:56483257-56483257
GRCh38: 6:56618459-56618459
11 DST NM_015548.5(DST):c.10139G>A (p.Trp3380Ter) SNV Pathogenic 967559 GRCh37: 6:56391280-56391280
GRCh38: 6:56526482-56526482
12 DST NM_015548.5(DST):c.3319-4787T>A SNV Pathogenic 968741 GRCh37: 6:56484069-56484069
GRCh38: 6:56619271-56619271
13 DST NM_015548.5(DST):c.12577C>T (p.Gln4193Ter) SNV Pathogenic 969144 GRCh37: 6:56357836-56357836
GRCh38: 6:56493038-56493038
14 DST NM_015548.5(DST):c.3319-4745T>G SNV Pathogenic 970830 GRCh37: 6:56484027-56484027
GRCh38: 6:56619229-56619229
15 DST NM_015548.5(DST):c.3318+3906del Deletion Pathogenic 971138 GRCh37: 6:56485422-56485422
GRCh38: 6:56620624-56620624
16 DST NM_015548.5(DST):c.3318+4592C>T SNV Pathogenic 568439 rs770035646 GRCh37: 6:56484736-56484736
GRCh38: 6:56619938-56619938
17 DST NM_015548.5(DST):c.6188G>A (p.Trp2063Ter) SNV Pathogenic 972275 GRCh37: 6:56426947-56426947
GRCh38: 6:56562149-56562149
18 DST NM_015548.5(DST):c.6348G>A (p.Trp2116Ter) SNV Pathogenic 972336 GRCh37: 6:56426199-56426199
GRCh38: 6:56561401-56561401
19 DST NM_015548.5(DST):c.10846C>T (p.Gln3616Ter) SNV Pathogenic 972538 GRCh37: 6:56376060-56376060
GRCh38: 6:56511262-56511262
20 DST NM_015548.5(DST):c.14902C>T (p.Arg4968Ter) SNV Pathogenic 971888 GRCh37: 6:56328479-56328479
GRCh38: 6:56463681-56463681
21 DST NM_015548.5(DST):c.9382C>T (p.Gln3128Ter) SNV Pathogenic 972041 GRCh37: 6:56394789-56394789
GRCh38: 6:56529991-56529991
22 DST NM_015548.5(DST):c.3318+3962C>T SNV Pathogenic 582018 rs577972555 GRCh37: 6:56485366-56485366
GRCh38: 6:56620568-56620568
23 DST NM_015548.5(DST):c.3319-4375dup Duplication Pathogenic 617589 rs759006806 GRCh37: 6:56483654-56483655
GRCh38: 6:56618856-56618857
24 DST NM_015548.5(DST):c.3318+4680dup Duplication Pathogenic 662480 rs772099949 GRCh37: 6:56484642-56484643
GRCh38: 6:56619844-56619845
25 DST NM_015548.5(DST):c.3465dup (p.Ser1156fs) Duplication Pathogenic 965470 GRCh37: 6:56476376-56476377
GRCh38: 6:56611578-56611579
26 DST NM_015548.5(DST):c.12184dup (p.Thr4062fs) Duplication Pathogenic 966656 GRCh37: 6:56362694-56362695
GRCh38: 6:56497896-56497897
27 DST NM_015548.5(DST):c.14136_14137insAT (p.Pro4713fs) Insertion Pathogenic 970428 GRCh37: 6:56337009-56337010
GRCh38: 6:56472211-56472212
28 DST NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter) SNV Pathogenic 452321 rs893650971 GRCh37: 6:56418374-56418374
GRCh38: 6:56553576-56553576
29 DST NM_015548.5(DST):c.2461C>T (p.Arg821Ter) SNV Pathogenic 541461 rs778397331 GRCh37: 6:56496079-56496079
GRCh38: 6:56631281-56631281
30 DST NM_015548.5(DST):c.3319-4270del Deletion Pathogenic 950202 GRCh37: 6:56483552-56483552
GRCh38: 6:56618754-56618754
31 DST NM_015548.5(DST):c.3319-4996_3319-4993del Deletion Pathogenic 541432 rs748899221 GRCh37: 6:56484275-56484278
GRCh38: 6:56619477-56619480
32 DST NM_001374736.1(DST):c.1779-222C>T SNV Pathogenic 1033858 GRCh37: 6:56507523-56507523
GRCh38: 6:56642725-56642725
33 DST NM_001374736.1(DST):c.4929+3866C>T SNV Pathogenic 66012 rs201045495 GRCh37: 6:56485462-56485462
GRCh38: 6:56620664-56620664
34 DST NM_015548.5(DST):c.1450-2A>T SNV Likely pathogenic 664361 rs1454639285 GRCh37: 6:56500514-56500514
GRCh38: 6:56635716-56635716
35 DST NM_015548.5(DST):c.15018+1G>A SNV Likely pathogenic 967051 GRCh37: 6:56328362-56328362
GRCh38: 6:56463564-56463564
36 DST NM_015548.5(DST):c.9726+1G>A SNV Likely pathogenic 968603 GRCh37: 6:56394245-56394245
GRCh38: 6:56529447-56529447
37 DST NM_015548.5(DST):c.2670+1G>A SNV Likely pathogenic 660548 rs1587154269 GRCh37: 6:56495042-56495042
GRCh38: 6:56630244-56630244
38 DST NM_015548.5(DST):c.11476A>T (p.Lys3826Ter) SNV Likely pathogenic 559659 rs1562435373 GRCh37: 6:56371482-56371482
GRCh38: 6:56506684-56506684
39 DST NM_015548.5(DST):c.15461C>T (p.Pro5154Leu) SNV Likely pathogenic 617590 rs1242078669 GRCh37: 6:56323858-56323858
GRCh38: 6:56459060-56459060
40 DST-AS1 , DST NM_001144769.3(DST):c.608C>A (p.Ala203Glu) SNV Likely pathogenic 559660 rs201871537 GRCh37: 6:56716212-56716212
GRCh38: 6:56851414-56851414
41 DST NM_015548.5(DST):c.645A>T (p.Ser215=) SNV Conflicting interpretations of pathogenicity 357617 rs113432929 GRCh37: 6:56505175-56505175
GRCh38: 6:56640377-56640377
42 DST NM_015548.5(DST):c.3318+4896G>A SNV Uncertain significance 357574 rs147704763 GRCh37: 6:56484432-56484432
GRCh38: 6:56619634-56619634
43 DST NM_015548.5(DST):c.3027+7A>T SNV Uncertain significance 357594 rs185349093 GRCh37: 6:56492790-56492790
GRCh38: 6:56627992-56627992
44 DST NM_015548.5(DST):c.3319-4293G>A SNV Uncertain significance 357565 rs886061645 GRCh37: 6:56483575-56483575
GRCh38: 6:56618777-56618777
45 DST NM_015548.5(DST):c.3318+4546G>A SNV Uncertain significance 357580 rs377356403 GRCh37: 6:56484782-56484782
GRCh38: 6:56619984-56619984
46 DST NM_015548.5(DST):c.767T>C (p.Met256Thr) SNV Uncertain significance 474554 rs912256488 GRCh37: 6:56505053-56505053
GRCh38: 6:56640255-56640255
47 DST NM_015548.5(DST):c.3319-1759G>T SNV Uncertain significance 357550 rs769369001 GRCh37: 6:56481041-56481041
GRCh38: 6:56616243-56616243
48 DST NM_015548.5(DST):c.3318+4586C>G SNV Uncertain significance 357578 rs886061648 GRCh37: 6:56484742-56484742
GRCh38: 6:56619944-56619944
49 DST NM_015548.5(DST):c.3319-428G>A SNV Uncertain significance 357532 rs886061640 GRCh37: 6:56479710-56479710
GRCh38: 6:56614912-56614912
50 DST NM_015548.5(DST):c.3318+4186C>T SNV Uncertain significance 357586 rs374143007 GRCh37: 6:56485142-56485142
GRCh38: 6:56620344-56620344

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Vi.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.62 MAPRE1 MACF1 DST CAMSAP3
2 cell junction GO:0030054 9.58 MACF1 DST CAMSAP3
3 intermediate filament GO:0005882 9.43 MACF1 DST
4 ciliary basal body GO:0036064 9.37 MAPRE1 CAMSAP3
5 cytoskeleton GO:0005856 9.35 MTCL1 MAPRE1 MACF1 DST CAMSAP3
6 microtubule cytoskeleton GO:0015630 9.33 MAPRE1 DST CAMSAP3
7 microtubule plus-end GO:0035371 9.26 MAPRE1 DST
8 microtubule GO:0005874 8.92 MAPRE1 MACF1 DST CAMSAP3

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.4 MACF1 DST
2 wound healing GO:0042060 9.37 MACF1 DST
3 regulation of cell migration GO:0030334 9.32 MACF1 CAMSAP3
4 cytoplasmic microtubule organization GO:0031122 9.26 DST CAMSAP3
5 microtubule bundle formation GO:0001578 9.16 MTCL1 MAPRE1
6 regulation of focal adhesion assembly GO:0051893 8.96 MACF1 CAMSAP3
7 intermediate filament cytoskeleton organization GO:0045104 8.62 MACF1 DST

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.37 MAPRE1 DST
2 structural molecule activity GO:0005198 9.32 MACF1 DST
3 cytoskeletal protein binding GO:0008092 9.26 MACF1 DST
4 microtubule plus-end binding GO:0051010 9.16 MAPRE1 DST
5 microtubule binding GO:0008017 9.02 MTCL1 MAPRE1 MACF1 DST CAMSAP3
6 microtubule minus-end binding GO:0051011 8.96 MACF1 CAMSAP3

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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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