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

HSAN6 MCID: NRP038 MIFTS: 38	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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 6 ¹² ⁵⁹ ¹⁵

Hereditary Sensory and Autonomic Neuropathy Type Vi 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 Cardiovascular diseases Muscle diseases Nephrological 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, 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), and among its related pathways/superpathways are Ceramide Pathway and Spinal Cord Injury. Affiliated tissues include skin, eye and tongue, 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 : 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)

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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

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hereditary sensory neuropathy	10.2
2	autonomic neuropathy	10.2
3	dystonia	10.2
4	neuropathy	10.2
5	autoimmune optic neuritis	9.9	AIF1 LCN2
6	transient cerebral ischemia	9.8	CASP3 LCN2

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

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

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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

Skin, Eye, Tongue

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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	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 )	Lynch-Godrei A...Kothary R	2018

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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	1426.09	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	22522446
2	FBXO32	F-Box Protein 32	Protein Coding	15.35	DISEASES inferred ¹⁵
3	ATF3	Activating Transcription Factor 3	Protein Coding	15.14	DISEASES inferred ¹⁵
4	AIF1	Allograft Inflammatory Factor 1	Protein Coding	14.79	DISEASES inferred ¹⁵
5	CASP3	Caspase 3	Protein Coding	13.04	DISEASES inferred ¹⁵
6	BEND6	BEN Domain Containing 6	Protein Coding	8.16	GeneCards inferred via : Variants (show sections)
7	NAA50	N(Alpha)-Acetyltransferase 50, NatE Catalytic Subunit	Protein Coding	5.96	DISEASES inferred ¹⁵
8	LCN2	Lipocalin 2	Protein Coding	4.44	DISEASES inferred ¹⁵

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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 558)

#	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

Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.05	ATF3 CASP3
2	Spinal Cord Injury ¹	10.7	AIF1 CASP3

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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	nucleus	GO:0005634	9.17	AIF1 ATF3 BEND6 CASP3 DST FBXO32

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	wound healing	GO:0042060	9.26	CASP3 DST
2	response to wounding	GO:0009611	9.16	CASP3 DST
3	response to glucocorticoid	GO:0051384	8.96	AIF1 CASP3
4	extrinsic apoptotic signaling pathway in absence of ligand	GO:0097192	8.62	CASP3 LCN2

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	protease binding	GO:0002020	8.62	CASP3 LCN2

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Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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³³ ICD10

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⁴¹ MalaCards

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⁴⁴ MeSH

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

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

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

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

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

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

Genes for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vi:

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:

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:

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vi