HSAN6
MCID: NRP038
MIFTS: 40

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, 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 56 29 13 6 71
Hsan6 56 12 58 73
Hereditary Sensory and Autonomic Neuropathy Type 6 12 58 15
Hereditary Sensory and Autonomic Neuropathy Type Vi 12 58
Hsan Vi 56 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:

56
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 autonomic neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vi is DST (Dystonin). Affiliated tissues include skin, 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 : 56 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:

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 neonatal hypotonia 31 HP:0001319
5 flexion contracture 31 HP:0001371
6 fever 31 HP:0001945
7 hyperhidrosis 31 HP:0000975
8 sensory neuropathy 31 HP:0000763
9 feeding difficulties 31 HP:0011968
10 growth delay 31 HP:0001510
11 respiratory insufficiency 31 HP:0002093
12 talipes equinovarus 31 HP:0001762
13 open mouth 31 HP:0000194
14 areflexia 31 HP:0001284
15 apnea 31 HP:0002104
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:

56
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

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
Skin, 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 56
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 553) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DST NM_015548.5(DST):c.2461C>T (p.Arg821Ter)SNV Pathogenic 541461 rs778397331 6:56496079-56496079 6:56631281-56631281
2 DST NM_015548.5(DST):c.3319-4996_3319-4993deldeletion Pathogenic 541432 rs748899221 6:56484275-56484278 6:56619477-56619480
3 DST NM_015548.5(DST):c.3318+3962C>TSNV Pathogenic 582018 rs577972555 6:56485366-56485366 6:56620568-56620568
4 DST NM_015548.5(DST):c.8989del (p.Val2997fs)deletion Pathogenic 665690 6:56400003-56400003 6:56535205-56535205
5 DST NM_015548.5(DST):c.3318+4592C>TSNV Pathogenic 568439 rs770035646 6:56484736-56484736 6:56619938-56619938
6 DST NM_015548.5(DST):c.3319-4375dupduplication Pathogenic 617589 rs759006806 6:56483654-56483655 6:56618856-56618857
7 DST NM_015548.5(DST):c.3318+4680dupduplication Pathogenic 662480 6:56484642-56484643 6:56619844-56619845
8 DST NM_015548.5(DST):c.3040G>T (p.Glu1014Ter)SNV Pathogenic 665283 6:56492073-56492073 6:56627275-56627275
9 DST NM_015548.5(DST):c.775C>T (p.Arg259Ter)SNV Pathogenic 641493 6:56505045-56505045 6:56640247-56640247
10 DST NC_000006.12:g.(?_56458995)_(56642798_?)deldeletion Pathogenic 833186 6:56323793-56507596
11 DST NM_015548.5(DST):c.3319-4830C>TSNV Pathogenic 847629 6:56484112-56484112 6:56619314-56619314
12 DST NM_015548.5(DST):c.3318+4140_3318+4144deldeletion Pathogenic 861578 6:56485184-56485188 6:56620386-56620390
13 DST NM_015548.5(DST):c.2303del (p.Leu768fs)deletion Pathogenic 836793 6:56496730-56496730 6:56631932-56631932
14 DST NM_015548.5(DST):c.13887del (p.Ala4630fs)deletion Pathogenic 31619 rs398122819 6:56341055-56341055 6:56476257-56476257
15 DST NM_015548.5(DST):c.3319-4134C>TSNV Pathogenic 862868 6:56483416-56483416 6:56618618-56618618
16 DST NM_015548.5(DST):c.1450-2A>TSNV Likely pathogenic 664361 6:56500514-56500514 6:56635716-56635716
17 DST NM_015548.5(DST):c.2670+1G>ASNV Likely pathogenic 660548 6:56495042-56495042 6:56630244-56630244
18 DST NM_015548.5(DST):c.15461C>T (p.Pro5154Leu)SNV Likely pathogenic 617590 rs1242078669 6:56323858-56323858 6:56459060-56459060
19 DST NM_015548.5(DST):c.11476A>T (p.Lys3826Ter)SNV Likely pathogenic 559659 rs1562435373 6:56371482-56371482 6:56506684-56506684
20 DST NM_001144769.3(DST):c.608C>A (p.Ala203Glu)SNV Likely pathogenic 559660 rs201871537 6:56716212-56716212 6:56851414-56851414
21 DST NM_015548.5(DST):c.1094C>G (p.Ser365Cys)SNV Conflicting interpretations of pathogenicity 474506 rs138553142 6:56504402-56504402 6:56639604-56639604
22 DST NM_015548.5(DST):c.15094G>T (p.Ala5032Ser)SNV Conflicting interpretations of pathogenicity 489327 rs201138592 6:56327879-56327879 6:56463081-56463081
23 DST NM_015548.5(DST):c.5492T>C (p.Leu1831Ser)SNV Conflicting interpretations of pathogenicity 489326 rs201758531 6:56437738-56437738 6:56572940-56572940
24 DST NM_015548.5(DST):c.12569A>G (p.Asn4190Ser)SNV Conflicting interpretations of pathogenicity 522338 rs199628430 6:56357844-56357844 6:56493046-56493046
25 DST NM_015548.5(DST):c.3386A>T (p.Asn1129Ile)SNV Conflicting interpretations of pathogenicity 702839 6:56479215-56479215 6:56614417-56614417
26 DST NM_015548.5(DST):c.14975C>T (p.Ala4992Val)SNV Conflicting interpretations of pathogenicity 796218 6:56328406-56328406 6:56463608-56463608
27 DST NM_015548.5(DST):c.4970A>G (p.Lys1657Arg)SNV Conflicting interpretations of pathogenicity 795702 6:56457044-56457044 6:56592246-56592246
28 DST NM_015548.5(DST):c.3319-2401A>CSNV Conflicting interpretations of pathogenicity 357556 rs149007397 6:56481683-56481683 6:56616885-56616885
29 DST NM_015548.5(DST):c.3318+4896G>ASNV Conflicting interpretations of pathogenicity 357574 rs147704763 6:56484432-56484432 6:56619634-56619634
30 DST NM_015548.5(DST):c.3318+3866C>TSNV Conflicting interpretations of pathogenicity 66012 rs201045495 6:56485462-56485462 6:56620664-56620664
31 DST NM_015548.5(DST):c.22del (p.Tyr8fs)deletion Conflicting interpretations of pathogenicity 282605 rs775912185 6:56507565-56507565 6:56642767-56642767
32 DST NM_015548.5(DST):c.3318+4545C>TSNV Conflicting interpretations of pathogenicity 357581 rs45472691 6:56484783-56484783 6:56619985-56619985
33 DST NM_015548.5(DST):c.3027+7A>TSNV Conflicting interpretations of pathogenicity 357594 rs185349093 6:56492790-56492790 6:56627992-56627992
34 DST NM_015548.5(DST):c.2242A>G (p.Asn748Asp)SNV Conflicting interpretations of pathogenicity 357604 rs201419873 6:56496791-56496791 6:56631993-56631993
35 DST NM_015548.5(DST):c.1989T>C (p.Ile663=)SNV Conflicting interpretations of pathogenicity 357605 rs200453699 6:56498951-56498951 6:56634153-56634153
36 DST NM_015548.5(DST):c.1764G>A (p.Ala588=)SNV Conflicting interpretations of pathogenicity 357607 rs149789667 6:56499379-56499379 6:56634581-56634581
37 DST NM_015548.5(DST):c.909A>C (p.Ser303=)SNV Conflicting interpretations of pathogenicity 357613 rs139336917 6:56504826-56504826 6:56640028-56640028
38 DST NM_015548.5(DST):c.3319-1426G>ASNV Conflicting interpretations of pathogenicity 357546 rs368876285 6:56480708-56480708 6:56615910-56615910
39 DST NM_015548.5(DST):c.3319-1492G>ASNV Conflicting interpretations of pathogenicity 357548 rs145891100 6:56480774-56480774 6:56615976-56615976
40 DST NM_015548.5(DST):c.2769G>A (p.Thr923=)SNV Conflicting interpretations of pathogenicity 357598 rs200169945 6:56494143-56494143 6:56629345-56629345
41 DST NM_015548.5(DST):c.3319-1699A>GSNV Conflicting interpretations of pathogenicity 357549 rs150845451 6:56480981-56480981 6:56616183-56616183
42 DST NM_015548.5(DST):c.3319-2115A>GSNV Conflicting interpretations of pathogenicity 357553 rs112473525 6:56481397-56481397 6:56616599-56616599
43 DST NM_015548.5(DST):c.3319-3641T>CSNV Conflicting interpretations of pathogenicity 357561 rs141573097 6:56482923-56482923 6:56618125-56618125
44 DST NM_015548.5(DST):c.3319-3658C>TSNV Conflicting interpretations of pathogenicity 357562 rs146263203 6:56482940-56482940 6:56618142-56618142
45 DST NM_015548.5(DST):c.3319-4397A>CSNV Conflicting interpretations of pathogenicity 357566 rs45487998 6:56483679-56483679 6:56618881-56618881
46 DST NM_015548.5(DST):c.3673-8C>TSNV Conflicting interpretations of pathogenicity 796001 6:56465027-56465027 6:56600229-56600229
47 DST NM_015548.5(DST):c.3318+4452C>ASNV Conflicting interpretations of pathogenicity 357583 rs142302277 6:56484876-56484876 6:56620078-56620078
48 DST NM_015548.5(DST):c.3318+4546G>ASNV Conflicting interpretations of pathogenicity 357580 rs377356403 6:56484782-56484782 6:56619984-56619984
49 DST NM_015548.5(DST):c.3295T>C (p.Leu1099=)SNV Conflicting interpretations of pathogenicity 357590 rs147406105 6:56489351-56489351 6:56624553-56624553
50 DST NM_015548.5(DST):c.3318+4453A>CSNV Conflicting interpretations of pathogenicity 357582 rs543767625 6:56484875-56484875 6:56620077-56620077

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 cytoskeleton GO:0005856 9.46 MTCL1 MAPRE1 MACF1 DST
2 intermediate filament GO:0005882 9.32 MACF1 DST
3 microtubule cytoskeleton GO:0015630 9.26 MAPRE1 DST
4 microtubule GO:0005874 9.13 MAPRE1 MACF1 DST
5 microtubule plus-end GO:0035371 8.62 MAPRE1 DST

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 9.26 MACF1 DST
2 wound healing GO:0042060 9.16 MACF1 DST
3 microtubule bundle formation GO:0001578 8.96 MTCL1 MAPRE1
4 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 9.32 MAPRE1 DST
2 structural molecule activity GO:0005198 9.26 MACF1 DST
3 cytoskeletal protein binding GO:0008092 9.16 MACF1 DST
4 microtubule plus-end binding GO:0051010 8.96 MAPRE1 DST
5 microtubule binding GO:0008017 8.92 MTCL1 MAPRE1 MACF1 DST

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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