Neuropathy, Hereditary Sensory and Autonomic, Type Vi disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Gastrointestinal diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Other hereditary and idiopathic neuropathies

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 614653

Disease Ontology ¹² DOID:0070151

ICD10 ³³ G60.8

Orphanet ⁵⁹ ORPHA314381

ICD10 via Orphanet ³⁴ G60.8

MedGen ⁴² C3539003 CN125065

MeSH ⁴⁴ D009477

SNOMED-CT via HPO ⁶⁹ 258211005 262016004 27272007 more

UMLS ⁷³ C3539003

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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.

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

Diseases in the Neuropathy, Hereditary Sensory and Autonomic, Type Iia family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia	Neuropathy, Hereditary Sensory and Autonomic, Type Iii
Neuropathy, Hereditary Sensory and Autonomic, Type V	Neuropathy, Hereditary Sensory and Autonomic, Type Iib
Neuropathy, Hereditary Sensory and Autonomic, Type Ic	Neuropathy, Hereditary Sensory and Autonomic, Type Vi
Neuropathy, Hereditary Sensory and Autonomic, Type Vii	Neuropathy, Hereditary Sensory and Autonomic, Type Viii
Hereditary Sensory and Autonomic Neuropathy Type 1

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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

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

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

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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

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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

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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 )	Manganelli F....Santoro L.	2017

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Genes for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Genes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DST	Dystonin	Protein Coding	1420.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Variants (show sections)	22522446

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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

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Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

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Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

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