HSAN6
MCID: NRP038
MIFTS: 33

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

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 58 30 13 6 74
Hsan6 58 12 60 76
Hereditary Sensory and Autonomic Neuropathy Type 6 12 60 15
Hereditary Sensory and Autonomic Neuropathy Type Vi 12 60
Hsan Vi 58 76
Neuropathy, Sensory and Autonomic, Hereditary, Type Vi 41
Neuropathy, Hereditary Sensory and Autonomic, 6 76
Familial Dysautonomia with Contractures 60
Hereditary Sensory Neuropathy Type Vi 76
Hsn Vi 76

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
neuropathy, hereditary sensory and autonomic, type vi:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

UniProtKB/Swiss-Prot : 76 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 hereditary sensory neuropathy and autonomic neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vi is DST (Dystonin). Affiliated tissues include skin, tongue and eye, and related phenotypes are low-set ears and high palate

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 : 58 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)

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:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 occasional (7.5%) HP:0000369
2 high palate 33 occasional (7.5%) HP:0000218
3 short chin 33 occasional (7.5%) HP:0000331
4 hyperhidrosis 33 HP:0000975
5 respiratory insufficiency 33 HP:0002093
6 neonatal hypotonia 33 HP:0001319
7 flexion contracture 33 HP:0001371
8 fever 33 HP:0001945
9 sensory neuropathy 33 HP:0000763
10 feeding difficulties 33 HP:0011968
11 growth delay 33 HP:0001510
12 apnea 33 HP:0002104
13 talipes equinovarus 33 HP:0001762
14 open mouth 33 HP:0000194
15 areflexia 33 HP:0001284
16 alacrima 33 HP:0000522
17 tachycardia 33 HP:0001649
18 hand clenching 33 HP:0001188
19 bradycardia 33 HP:0001662
20 corneal scarring 33 HP:0000559
21 limited hip extension 33 HP:0003093
22 blotching pigmentation of the skin 33 HP:0007610

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency
episodic apnea
poor respiratory effort

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

Abdomen Gastrointestinal:
poor feeding

Skeletal Feet:
club feet

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)

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

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)

Skeletal Pelvis:
limited hip extension

Clinical features from OMIM:

614653

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 30 DST

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

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

42
Skin, Tongue, Eye

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

# Title Authors Year
1
Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. ( 29982604 )
2018
2
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. ( 22522446 )
2012

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 566)
# Gene Variation Type Significance SNP ID Assembly Location
1 DST NM_015548.4(DST): c.13887delA (p.Ala4630Leufs) deletion Pathogenic rs398122819 GRCh37 Chromosome 6, 56341055: 56341055
2 DST NM_015548.4(DST): c.13887delA (p.Ala4630Leufs) deletion Pathogenic rs398122819 GRCh38 Chromosome 6, 56476257: 56476257
3 DST NM_001723.5(DST): c.22delT (p.Tyr8Thrfs) deletion Conflicting interpretations of pathogenicity rs775912185 GRCh37 Chromosome 6, 56507565: 56507565
4 DST NM_001723.5(DST): c.22delT (p.Tyr8Thrfs) deletion Conflicting interpretations of pathogenicity rs775912185 GRCh38 Chromosome 6, 56642767: 56642767
5 DST NM_001723.5(DST): c.*666C> T single nucleotide variant Uncertain significance rs150986597 GRCh37 Chromosome 6, 56479649: 56479649
6 DST NM_001723.5(DST): c.*666C> T single nucleotide variant Uncertain significance rs150986597 GRCh38 Chromosome 6, 56614851: 56614851
7 DST NM_001723.5(DST): c.*603A> G single nucleotide variant Uncertain significance rs140470023 GRCh38 Chromosome 6, 56614914: 56614914
8 DST NM_001723.5(DST): c.*603A> G single nucleotide variant Uncertain significance rs140470023 GRCh37 Chromosome 6, 56479712: 56479712
9 DST NM_001723.5(DST): c.*382G> A single nucleotide variant Uncertain significance rs116219382 GRCh38 Chromosome 6, 56615135: 56615135
10 DST NM_001723.5(DST): c.*382G> A single nucleotide variant Uncertain significance rs116219382 GRCh37 Chromosome 6, 56479933: 56479933
11 DST NM_001723.5(DST): c.7495C> T (p.Arg2499Trp) single nucleotide variant Uncertain significance rs369328276 GRCh38 Chromosome 6, 56615972: 56615972
12 DST NM_001723.5(DST): c.7495C> T (p.Arg2499Trp) single nucleotide variant Uncertain significance rs369328276 GRCh37 Chromosome 6, 56480770: 56480770
13 DST NM_001723.5(DST): c.6994A> C (p.Asn2332His) single nucleotide variant Uncertain significance rs886061643 GRCh38 Chromosome 6, 56616473: 56616473
14 DST NM_001723.5(DST): c.6994A> C (p.Asn2332His) single nucleotide variant Uncertain significance rs886061643 GRCh37 Chromosome 6, 56481271: 56481271
15 DST NM_001723.5(DST): c.6582A> C (p.Ala2194=) single nucleotide variant Conflicting interpretations of pathogenicity rs149007397 GRCh37 Chromosome 6, 56481683: 56481683
16 DST NM_001723.5(DST): c.6582A> C (p.Ala2194=) single nucleotide variant Conflicting interpretations of pathogenicity rs149007397 GRCh38 Chromosome 6, 56616885: 56616885
17 DST NM_001723.5(DST): c.5930C> G (p.Thr1977Arg) single nucleotide variant Uncertain significance rs148856756 GRCh37 Chromosome 6, 56482902: 56482902
18 DST NM_001723.5(DST): c.5930C> G (p.Thr1977Arg) single nucleotide variant Uncertain significance rs148856756 GRCh38 Chromosome 6, 56618104: 56618104
19 DST NM_001723.5(DST): c.4972A> G (p.Asn1658Asp) single nucleotide variant Uncertain significance rs886061647 GRCh37 Chromosome 6, 56483860: 56483860
20 DST NM_001723.5(DST): c.4972A> G (p.Asn1658Asp) single nucleotide variant Uncertain significance rs886061647 GRCh38 Chromosome 6, 56619062: 56619062
21 DST NM_001723.5(DST): c.4400G> A (p.Arg1467His) single nucleotide variant Conflicting interpretations of pathogenicity rs147704763 GRCh37 Chromosome 6, 56484432: 56484432
22 DST NM_001723.5(DST): c.4400G> A (p.Arg1467His) single nucleotide variant Conflicting interpretations of pathogenicity rs147704763 GRCh38 Chromosome 6, 56619634: 56619634
23 DST NM_001723.5(DST): c.4074G> A (p.Lys1358=) single nucleotide variant Benign rs2230862 GRCh38 Chromosome 6, 56619960: 56619960
24 DST NM_001723.5(DST): c.4074G> A (p.Lys1358=) single nucleotide variant Benign rs2230862 GRCh37 Chromosome 6, 56484758: 56484758
25 DST NM_001723.5(DST): c.4049C> T (p.Thr1350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45472691 GRCh38 Chromosome 6, 56619985: 56619985
26 DST NM_001723.5(DST): c.4049C> T (p.Thr1350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45472691 GRCh37 Chromosome 6, 56484783: 56484783
27 DST NM_001723.5(DST): c.3715C> T (p.Arg1239Cys) single nucleotide variant Uncertain significance rs371231287 GRCh38 Chromosome 6, 56620319: 56620319
28 DST NM_001723.5(DST): c.3715C> T (p.Arg1239Cys) single nucleotide variant Uncertain significance rs371231287 GRCh37 Chromosome 6, 56485117: 56485117
29 DST NM_001723.5(DST): c.3139C> T (p.Arg1047Trp) single nucleotide variant Uncertain significance rs200735287 GRCh38 Chromosome 6, 56625237: 56625237
30 DST NM_001723.5(DST): c.3139C> T (p.Arg1047Trp) single nucleotide variant Uncertain significance rs200735287 GRCh37 Chromosome 6, 56490035: 56490035
31 DST NM_001723.5(DST): c.3027+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs185349093 GRCh38 Chromosome 6, 56627992: 56627992
32 DST NM_001723.5(DST): c.3027+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs185349093 GRCh37 Chromosome 6, 56492790: 56492790
33 DST NM_001723.5(DST): c.2779C> T (p.Arg927Trp) single nucleotide variant Uncertain significance rs200316560 GRCh38 Chromosome 6, 56629335: 56629335
34 DST NM_001723.5(DST): c.2779C> T (p.Arg927Trp) single nucleotide variant Uncertain significance rs200316560 GRCh37 Chromosome 6, 56494133: 56494133
35 DST NM_001723.5(DST): c.2242A> G (p.Asn748Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201419873 GRCh37 Chromosome 6, 56496791: 56496791
36 DST NM_001723.5(DST): c.2242A> G (p.Asn748Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201419873 GRCh38 Chromosome 6, 56631993: 56631993
37 DST NM_001723.5(DST): c.1989T> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs200453699 GRCh37 Chromosome 6, 56498951: 56498951
38 DST NM_001723.5(DST): c.1989T> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs200453699 GRCh38 Chromosome 6, 56634153: 56634153
39 DST NM_001723.5(DST): c.1764G> A (p.Ala588=) single nucleotide variant Conflicting interpretations of pathogenicity rs149789667 GRCh37 Chromosome 6, 56499379: 56499379
40 DST NM_001723.5(DST): c.1764G> A (p.Ala588=) single nucleotide variant Conflicting interpretations of pathogenicity rs149789667 GRCh38 Chromosome 6, 56634581: 56634581
41 DST NM_001723.5(DST): c.1672T> G (p.Cys558Gly) single nucleotide variant Uncertain significance rs886061650 GRCh37 Chromosome 6, 56499655: 56499655
42 DST NM_001723.5(DST): c.1672T> G (p.Cys558Gly) single nucleotide variant Uncertain significance rs886061650 GRCh38 Chromosome 6, 56634857: 56634857
43 DST NM_001723.5(DST): c.1009A> T (p.Ile337Phe) single nucleotide variant Uncertain significance rs774974326 GRCh37 Chromosome 6, 56504571: 56504571
44 DST NM_001723.5(DST): c.1009A> T (p.Ile337Phe) single nucleotide variant Uncertain significance rs774974326 GRCh38 Chromosome 6, 56639773: 56639773
45 DST NM_001723.5(DST): c.909A> C (p.Ser303=) single nucleotide variant Conflicting interpretations of pathogenicity rs139336917 GRCh37 Chromosome 6, 56504826: 56504826
46 DST NM_001723.5(DST): c.909A> C (p.Ser303=) single nucleotide variant Conflicting interpretations of pathogenicity rs139336917 GRCh38 Chromosome 6, 56640028: 56640028
47 DST NM_001723.5(DST): c.*605G> A single nucleotide variant Uncertain significance rs886061640 GRCh37 Chromosome 6, 56479710: 56479710
48 DST NM_001723.5(DST): c.*605G> A single nucleotide variant Uncertain significance rs886061640 GRCh38 Chromosome 6, 56614912: 56614912
49 DST NM_001723.5(DST): c.*595G> C single nucleotide variant Uncertain significance rs145471325 GRCh38 Chromosome 6, 56614922: 56614922
50 DST NM_001723.5(DST): c.*595G> C single nucleotide variant Uncertain significance rs145471325 GRCh37 Chromosome 6, 56479720: 56479720

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 Z disc GO:0030018 8.62 DST FBXO32

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