HSAN6
MCID: NRP038
MIFTS: 41

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 71
Hsan6 57 12 58 73
Hereditary Sensory and Autonomic Neuropathy Type 6 12 58 15
Hereditary Sensory and Autonomic Neuropathy Type Vi 12 58
Hsan Vi 57 73
Neuropathy, Sensory and Autonomic, Hereditary, Type Vi 39
Neuropathy, Hereditary Sensory and Autonomic, 6 73
Familial Dysautonomia with Contractures 58
Hereditary Sensory Neuropathy Type Vi 73
Hsn Vi 73

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 05-Mar-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 : 73 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 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 05-Mar-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 05-Mar-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 05-Mar-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
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. 57 6
22522446 2012
2
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 993)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DST NM_015548.5(DST):c.13887del (p.Ala4630fs) Deletion Pathogenic 31619 rs398122819 6:56341055-56341055 6:56476257-56476257
2 DST NC_000006.12:g.(?_56458995)_(56642798_?)del Deletion Pathogenic 833186 6:56323793-56507596
3 DST NM_015548.5(DST):c.2303del (p.Leu768fs) Deletion Pathogenic 836793 6:56496730-56496730 6:56631932-56631932
4 DST NM_015548.5(DST):c.3319-4830C>T SNV Pathogenic 847629 6:56484112-56484112 6:56619314-56619314
5 DST NM_015548.5(DST):c.775C>T (p.Arg259Ter) SNV Pathogenic 641493 rs376491126 6:56505045-56505045 6:56640247-56640247
6 DST NM_015548.5(DST):c.3319-4134C>T SNV Pathogenic 862868 6:56483416-56483416 6:56618618-56618618
7 DST NM_015548.5(DST):c.3318+4140_3318+4144del Deletion Pathogenic 861578 6:56485184-56485188 6:56620386-56620390
8 DST NM_015548.5(DST):c.3040G>T (p.Glu1014Ter) SNV Pathogenic 665283 rs375889300 6:56492073-56492073 6:56627275-56627275
9 DST NM_015548.5(DST):c.8989del (p.Val2997fs) Deletion Pathogenic 665690 rs1584328172 6:56400003-56400003 6:56535205-56535205
10 DST NM_015548.5(DST):c.3319-3975C>T SNV Pathogenic 953197 6:56483257-56483257 6:56618459-56618459
11 DST NM_015548.5(DST):c.12577C>T (p.Gln4193Ter) SNV Pathogenic 969144 6:56357836-56357836 6:56493038-56493038
12 DST NM_015548.5(DST):c.10139G>A (p.Trp3380Ter) SNV Pathogenic 967559 6:56391280-56391280 6:56526482-56526482
13 DST NM_015548.5(DST):c.3319-4270del Deletion Pathogenic 950202 6:56483552-56483552 6:56618754-56618754
14 DST NM_015548.5(DST):c.3319-4745T>G SNV Pathogenic 970830 6:56484027-56484027 6:56619229-56619229
15 DST NM_015548.5(DST):c.3319-4787T>A SNV Pathogenic 968741 6:56484069-56484069 6:56619271-56619271
16 DST NM_015548.5(DST):c.3318+3906del Deletion Pathogenic 971138 6:56485422-56485422 6:56620624-56620624
17 DST NM_015548.5(DST):c.9382C>T (p.Gln3128Ter) SNV Pathogenic 972041 6:56394789-56394789 6:56529991-56529991
18 DST NM_015548.5(DST):c.6348G>A (p.Trp2116Ter) SNV Pathogenic 972336 6:56426199-56426199 6:56561401-56561401
19 DST NM_015548.5(DST):c.10846C>T (p.Gln3616Ter) SNV Pathogenic 972538 6:56376060-56376060 6:56511262-56511262
20 DST NM_015548.5(DST):c.3319-4996_3319-4993del Deletion Pathogenic 541432 rs748899221 6:56484275-56484278 6:56619477-56619480
21 DST NM_015548.5(DST):c.2461C>T (p.Arg821Ter) SNV Pathogenic 541461 rs778397331 6:56496079-56496079 6:56631281-56631281
22 DST NM_015548.5(DST):c.14902C>T (p.Arg4968Ter) SNV Pathogenic 971888 6:56328479-56328479 6:56463681-56463681
23 DST NM_015548.5(DST):c.3318+4592C>T SNV Pathogenic 568439 rs770035646 6:56484736-56484736 6:56619938-56619938
24 DST NM_015548.5(DST):c.3318+3962C>T SNV Pathogenic 582018 rs577972555 6:56485366-56485366 6:56620568-56620568
25 DST NM_015548.5(DST):c.3319-4375dup Duplication Pathogenic 617589 rs759006806 6:56483654-56483655 6:56618856-56618857
26 DST NM_015548.5(DST):c.3318+4680dup Duplication Pathogenic 662480 rs772099949 6:56484642-56484643 6:56619844-56619845
27 DST NM_015548.5(DST):c.3465dup (p.Ser1156fs) Duplication Pathogenic 965470 6:56476376-56476377 6:56611578-56611579
28 DST NM_015548.5(DST):c.12184dup (p.Thr4062fs) Duplication Pathogenic 966656 6:56362694-56362695 6:56497896-56497897
29 DST NM_015548.5(DST):c.6188G>A (p.Trp2063Ter) SNV Pathogenic 972275 6:56426947-56426947 6:56562149-56562149
30 DST NM_015548.5(DST):c.14136_14137insAT (p.Pro4713fs) Insertion Pathogenic 970428 6:56337009-56337010 6:56472211-56472212
31 DST NM_015548.5(DST):c.7347G>A (p.Trp2449Ter) SNV Pathogenic 452321 rs893650971 6:56418374-56418374 6:56553576-56553576
32 DST NM_001374736.1(DST):c.4929+3866C>T SNV Pathogenic 66012 rs201045495 6:56485462-56485462 6:56620664-56620664
33 DST NM_015548.5(DST):c.9726+1G>A SNV Likely pathogenic 968603 6:56394245-56394245 6:56529447-56529447
34 DST NM_015548.5(DST):c.15018+1G>A SNV Likely pathogenic 967051 6:56328362-56328362 6:56463564-56463564
35 DST NM_015548.5(DST):c.1450-2A>T SNV Likely pathogenic 664361 rs1454639285 6:56500514-56500514 6:56635716-56635716
36 DST NM_015548.5(DST):c.2670+1G>A SNV Likely pathogenic 660548 rs1587154269 6:56495042-56495042 6:56630244-56630244
37 DST NM_015548.5(DST):c.15461C>T (p.Pro5154Leu) SNV Likely pathogenic 617590 rs1242078669 6:56323858-56323858 6:56459060-56459060
38 DST NM_015548.5(DST):c.11476A>T (p.Lys3826Ter) SNV Likely pathogenic 559659 rs1562435373 6:56371482-56371482 6:56506684-56506684
39 DST-AS1 NM_001144769.3(DST):c.608C>A (p.Ala203Glu) SNV Likely pathogenic 559660 rs201871537 6:56716212-56716212 6:56851414-56851414
40 DST NM_015548.5(DST):c.645A>T (p.Ser215=) SNV Conflicting interpretations of pathogenicity 357617 rs113432929 6:56505175-56505175 6:56640377-56640377
41 DST NM_015548.5(DST):c.3318+4546G>A SNV Uncertain significance 357580 rs377356403 6:56484782-56484782 6:56619984-56619984
42 DST NM_015548.5(DST):c.3319-3620C>G SNV Uncertain significance 357560 rs148856756 6:56482902-56482902 6:56618104-56618104
43 DST NM_015548.5(DST):c.10178A>G (p.Asp3393Gly) SNV Uncertain significance 522339 rs1444942164 6:56391241-56391241 6:56526443-56526443
44 DST NM_015548.5(DST):c.3027+7A>T SNV Uncertain significance 357594 rs185349093 6:56492790-56492790 6:56627992-56627992
45 DST NM_015548.5(DST):c.3318+4896G>A SNV Uncertain significance 357574 rs147704763 6:56484432-56484432 6:56619634-56619634
46 DST NM_015548.5(DST):c.893G>A (p.Arg298His) SNV Uncertain significance 357614 rs41267671 6:56504842-56504842 6:56640044-56640044
47 DST NM_015548.5(DST):c.3319-1492G>A SNV Uncertain significance 357548 rs145891100 6:56480774-56480774 6:56615976-56615976
48 DST NM_015548.5(DST):c.2779C>T (p.Arg927Trp) SNV Uncertain significance 357597 rs200316560 6:56494133-56494133 6:56629335-56629335
49 DST NM_015548.5(DST):c.3139C>T (p.Arg1047Trp) SNV Uncertain significance 357593 rs200735287 6:56490035-56490035 6:56625237-56625237
50 DST NM_015548.5(DST):c.3318+4960C>T SNV Uncertain significance 357573 rs80337136 6:56484368-56484368 6:56619570-56619570

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....