MCID: NRP038
MIFTS: 27

Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Skin diseases, Gastrointestinal diseases, Metabolic diseases, Ear diseases, Mental 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 73
Hsan6 57 12 59 75
Hereditary Sensory and Autonomic Neuropathy Type Vi 12 59
Hereditary Sensory and Autonomic Neuropathy Type 6 12 59
Hsan Vi 57 75
Neuropathy, Sensory and Autonomic, Hereditary, Type Vi 40
Neuropathy, Hereditary Sensory and Autonomic, 6 75
Familial Dysautonomia with Contractures 59
Hereditary Sensory Neuropathy Type Vi 75
Hsn Vi 75

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
neuropathy, hereditary sensory and autonomic, type vi:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

UniProtKB/Swiss-Prot : 75 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, is also known as hsan6. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vi is DST (Dystonin). Affiliated tissues include tongue and skin, and related phenotypes are open mouth and high palate

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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 open mouth 32 HP:0000194
2 high palate 32 occasional (7.5%) HP:0000218
3 short chin 32 occasional (7.5%) HP:0000331
4 low-set ears 32 occasional (7.5%) HP:0000369
5 alacrima 32 HP:0000522
6 corneal scarring 32 HP:0000559
7 sensory neuropathy 32 HP:0000763
8 hyperhidrosis 32 HP:0000975
9 hand clenching 32 HP:0001188
10 areflexia 32 HP:0001284
11 neonatal hypotonia 32 HP:0001319
12 flexion contracture 32 HP:0001371
13 growth delay 32 HP:0001510
14 tachycardia 32 HP:0001649
15 bradycardia 32 HP:0001662
16 talipes equinovarus 32 HP:0001762
17 fever 32 HP:0001945
18 respiratory insufficiency 32 HP:0002093
19 apnea 32 HP:0002104
20 limited hip extension 32 HP:0003093
21 blotching pigmentation of the skin 32 HP:0007610
22 feeding difficulties 32 HP:0011968

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:

41
Tongue, Skin

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

# Title Authors Year
1
Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. ( 28468842 )
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 446)
# 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 GRCh37 Chromosome 6, 56479712: 56479712
8 DST NM_001723.5(DST): c.*603A> G single nucleotide variant Uncertain significance rs140470023 GRCh38 Chromosome 6, 56614914: 56614914
9 DST NM_001723.5(DST): c.*382G> A single nucleotide variant Uncertain significance rs116219382 GRCh37 Chromosome 6, 56479933: 56479933
10 DST NM_001723.5(DST): c.*382G> A single nucleotide variant Uncertain significance rs116219382 GRCh38 Chromosome 6, 56615135: 56615135
11 DST NM_001723.5(DST): c.7495C> T (p.Arg2499Trp) single nucleotide variant Uncertain significance rs369328276 GRCh37 Chromosome 6, 56480770: 56480770
12 DST NM_001723.5(DST): c.7495C> T (p.Arg2499Trp) single nucleotide variant Uncertain significance rs369328276 GRCh38 Chromosome 6, 56615972: 56615972
13 DST NM_001723.5(DST): c.6994A> C (p.Asn2332His) single nucleotide variant Uncertain significance rs886061643 GRCh37 Chromosome 6, 56481271: 56481271
14 DST NM_001723.5(DST): c.6994A> C (p.Asn2332His) single nucleotide variant Uncertain significance rs886061643 GRCh38 Chromosome 6, 56616473: 56616473
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 GRCh37 Chromosome 6, 56484758: 56484758
24 DST NM_001723.5(DST): c.4074G> A (p.Lys1358=) single nucleotide variant Benign rs2230862 GRCh38 Chromosome 6, 56619960: 56619960
25 DST NM_001723.5(DST): c.4049C> T (p.Thr1350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45472691 GRCh37 Chromosome 6, 56484783: 56484783
26 DST NM_001723.5(DST): c.4049C> T (p.Thr1350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45472691 GRCh38 Chromosome 6, 56619985: 56619985
27 DST NM_001723.5(DST): c.3715C> T (p.Arg1239Cys) single nucleotide variant Uncertain significance rs371231287 GRCh37 Chromosome 6, 56485117: 56485117
28 DST NM_001723.5(DST): c.3715C> T (p.Arg1239Cys) single nucleotide variant Uncertain significance rs371231287 GRCh38 Chromosome 6, 56620319: 56620319
29 DST NM_001723.5(DST): c.3139C> T (p.Arg1047Trp) single nucleotide variant Uncertain significance rs200735287 GRCh37 Chromosome 6, 56490035: 56490035
30 DST NM_001723.5(DST): c.3139C> T (p.Arg1047Trp) single nucleotide variant Uncertain significance rs200735287 GRCh38 Chromosome 6, 56625237: 56625237
31 DST NM_001723.5(DST): c.3027+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs185349093 GRCh37 Chromosome 6, 56492790: 56492790
32 DST NM_001723.5(DST): c.3027+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs185349093 GRCh38 Chromosome 6, 56627992: 56627992
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 GRCh37 Chromosome 6, 56479720: 56479720
50 DST NM_001723.5(DST): c.*595G> C single nucleotide variant Uncertain significance rs145471325 GRCh38 Chromosome 6, 56614922: 56614922

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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