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

HSAN6 MCID: NRP038 MIFTS: 42	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, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste 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 ⁷⁰

Hsan6 ⁵⁷ ¹² ⁵⁸ ⁷²

Hereditary Sensory and Autonomic Neuropathy Type 6 ¹² ⁵⁸ ¹⁵

Hereditary Sensory and Autonomic Neuropathy Type Vi ¹² ⁵⁸

Hsan Vi ⁵⁷ ⁷²

Neuropathy, Sensory and Autonomic, Hereditary, Type Vi ³⁹

Neuropathy, Hereditary Sensory and Autonomic, 6 ⁷²

Familial Dysautonomia with Contractures ⁵⁸

Hereditary Sensory Neuropathy Type Vi ⁷²

Hsn Vi ⁷²

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®:

⁵⁷ (Updated 20-May-2021)

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Respiratory diseases Cardiovascular diseases Gastrointestinal diseases Bone diseases Nephrological diseases Ear diseases Muscle diseases Smell/Taste diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Other hereditary and idiopathic neuropathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0070151

OMIM® ⁵⁷ 614653

OMIM Phenotypic Series ⁵⁷ PS162400

MeSH ⁴⁴ D009477

ICD10 ³² G60.8

ICD10 via Orphanet ³³ G60.8

Orphanet ⁵⁸ ORPHA314381

MedGen ⁴¹ C3539003 CN125065

UMLS ⁷⁰ C3539003

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Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

UniProtKB/Swiss-Prot : ⁷² 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 ataxia and polyneuropathy, adult-onset. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vi is DST (Dystonin). Affiliated tissues include eye, 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® : 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) (Updated 20-May-2021)

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

Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia	Neuropathy, Hereditary Sensory and Autonomic, Type Iia
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
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy

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

(show all 11)

#	Related Disease	Score
1	neuropathy	10.4
2	ataxia and polyneuropathy, adult-onset	10.2
3	autonomic neuropathy	10.2
4	sensory peripheral neuropathy	10.2
5	hereditary sensory neuropathy	10.0
6	sexual disorder	10.0
7	pemphigoid	10.0
8	anhidrosis	10.0
9	neuritis	10.0
10	dystonia	10.0
11	bullous pemphigoid	10.0

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

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

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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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:

⁴⁰

Eye, Tongue, Smooth Muscle

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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	PMID	Year
1	Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. ⁶ ⁵⁷	Edvardson S...Elpeleg O	22522446	2012
2	Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. ⁶	Takeichi T...McGrath JA	25059916	2015
3	A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. ⁶	Groves RW...McGrath JA	20164846	2010
4	BPAG1 in muscles: Structure and function in skeletal, cardiac and smooth muscle. ⁶¹	Horie M...Takebayashi H	28736206	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	PubMed IDs
1	DST	Dystonin	Protein Coding	1444.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	22522446
2	DST-AS1	DST Antisense RNA 1	RNA Gene	32.86	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	MAPRE1	Microtubule Associated Protein RP/EB Family Member 1	Protein Coding	6.24	DISEASES inferred ¹⁵
4	MACF1	Microtubule Actin Crosslinking Factor 1	Protein Coding	6.01	DISEASES inferred ¹⁵
5	CAMSAP3	Calmodulin Regulated Spectrin Associated Protein Family Member 3	Protein Coding	5.87	DISEASES inferred ¹⁵
6	MTCL1	Microtubule Crosslinking Factor 1	Protein Coding	5.86	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 1281)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DST	NM_015548.5(DST):c.13887del (p.Ala4630fs)	Deletion	Pathogenic	31619	rs398122819	GRCh37: 6:56341055-56341055 GRCh38: 6:56476257-56476257
2	DST	NM_015548.5(DST):c.775C>T (p.Arg259Ter)	SNV	Pathogenic	641493	rs376491126	GRCh37: 6:56505045-56505045 GRCh38: 6:56640247-56640247
3	DST	NC_000006.12:g.(?_56458995)_(56642798_?)del	Deletion	Pathogenic	833186		GRCh37: 6:56323793-56507596 GRCh38:
4	DST	NM_015548.5(DST):c.2303del (p.Leu768fs)	Deletion	Pathogenic	836793		GRCh37: 6:56496730-56496730 GRCh38: 6:56631932-56631932
5	DST	NM_015548.5(DST):c.3319-4830C>T	SNV	Pathogenic	847629		GRCh37: 6:56484112-56484112 GRCh38: 6:56619314-56619314
6	DST	NM_015548.5(DST):c.3318+4140_3318+4144del	Deletion	Pathogenic	861578		GRCh37: 6:56485184-56485188 GRCh38: 6:56620386-56620390
7	DST	NM_015548.5(DST):c.3319-4134C>T	SNV	Pathogenic	862868		GRCh37: 6:56483416-56483416 GRCh38: 6:56618618-56618618
8	DST	NM_015548.5(DST):c.3040G>T (p.Glu1014Ter)	SNV	Pathogenic	665283	rs375889300	GRCh37: 6:56492073-56492073 GRCh38: 6:56627275-56627275
9	DST	NM_015548.5(DST):c.8989del (p.Val2997fs)	Deletion	Pathogenic	665690	rs1584328172	GRCh37: 6:56400003-56400003 GRCh38: 6:56535205-56535205
10	DST	NM_015548.5(DST):c.3319-3975C>T	SNV	Pathogenic	953197		GRCh37: 6:56483257-56483257 GRCh38: 6:56618459-56618459
11	DST	NM_015548.5(DST):c.10139G>A (p.Trp3380Ter)	SNV	Pathogenic	967559		GRCh37: 6:56391280-56391280 GRCh38: 6:56526482-56526482
12	DST	NM_015548.5(DST):c.3319-4787T>A	SNV	Pathogenic	968741		GRCh37: 6:56484069-56484069 GRCh38: 6:56619271-56619271
13	DST	NM_015548.5(DST):c.12577C>T (p.Gln4193Ter)	SNV	Pathogenic	969144		GRCh37: 6:56357836-56357836 GRCh38: 6:56493038-56493038
14	DST	NM_015548.5(DST):c.3319-4745T>G	SNV	Pathogenic	970830		GRCh37: 6:56484027-56484027 GRCh38: 6:56619229-56619229
15	DST	NM_015548.5(DST):c.3318+3906del	Deletion	Pathogenic	971138		GRCh37: 6:56485422-56485422 GRCh38: 6:56620624-56620624
16	DST	NM_015548.5(DST):c.3318+4592C>T	SNV	Pathogenic	568439	rs770035646	GRCh37: 6:56484736-56484736 GRCh38: 6:56619938-56619938
17	DST	NM_015548.5(DST):c.6188G>A (p.Trp2063Ter)	SNV	Pathogenic	972275		GRCh37: 6:56426947-56426947 GRCh38: 6:56562149-56562149
18	DST	NM_015548.5(DST):c.6348G>A (p.Trp2116Ter)	SNV	Pathogenic	972336		GRCh37: 6:56426199-56426199 GRCh38: 6:56561401-56561401
19	DST	NM_015548.5(DST):c.10846C>T (p.Gln3616Ter)	SNV	Pathogenic	972538		GRCh37: 6:56376060-56376060 GRCh38: 6:56511262-56511262
20	DST	NM_015548.5(DST):c.14902C>T (p.Arg4968Ter)	SNV	Pathogenic	971888		GRCh37: 6:56328479-56328479 GRCh38: 6:56463681-56463681
21	DST	NM_015548.5(DST):c.9382C>T (p.Gln3128Ter)	SNV	Pathogenic	972041		GRCh37: 6:56394789-56394789 GRCh38: 6:56529991-56529991
22	DST	NM_015548.5(DST):c.3318+3962C>T	SNV	Pathogenic	582018	rs577972555	GRCh37: 6:56485366-56485366 GRCh38: 6:56620568-56620568
23	DST	NM_015548.5(DST):c.3319-4375dup	Duplication	Pathogenic	617589	rs759006806	GRCh37: 6:56483654-56483655 GRCh38: 6:56618856-56618857
24	DST	NM_015548.5(DST):c.3318+4680dup	Duplication	Pathogenic	662480	rs772099949	GRCh37: 6:56484642-56484643 GRCh38: 6:56619844-56619845
25	DST	NM_015548.5(DST):c.3465dup (p.Ser1156fs)	Duplication	Pathogenic	965470		GRCh37: 6:56476376-56476377 GRCh38: 6:56611578-56611579
26	DST	NM_015548.5(DST):c.12184dup (p.Thr4062fs)	Duplication	Pathogenic	966656		GRCh37: 6:56362694-56362695 GRCh38: 6:56497896-56497897
27	DST	NM_015548.5(DST):c.14136_14137insAT (p.Pro4713fs)	Insertion	Pathogenic	970428		GRCh37: 6:56337009-56337010 GRCh38: 6:56472211-56472212
28	DST	NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter)	SNV	Pathogenic	452321	rs893650971	GRCh37: 6:56418374-56418374 GRCh38: 6:56553576-56553576
29	DST	NM_015548.5(DST):c.2461C>T (p.Arg821Ter)	SNV	Pathogenic	541461	rs778397331	GRCh37: 6:56496079-56496079 GRCh38: 6:56631281-56631281
30	DST	NM_015548.5(DST):c.3319-4270del	Deletion	Pathogenic	950202		GRCh37: 6:56483552-56483552 GRCh38: 6:56618754-56618754
31	DST	NM_015548.5(DST):c.3319-4996_3319-4993del	Deletion	Pathogenic	541432	rs748899221	GRCh37: 6:56484275-56484278 GRCh38: 6:56619477-56619480
32	DST	NM_001374736.1(DST):c.1779-222C>T	SNV	Pathogenic	1033858		GRCh37: 6:56507523-56507523 GRCh38: 6:56642725-56642725
33	DST	NM_001374736.1(DST):c.4929+3866C>T	SNV	Pathogenic	66012	rs201045495	GRCh37: 6:56485462-56485462 GRCh38: 6:56620664-56620664
34	DST	NM_015548.5(DST):c.1450-2A>T	SNV	Likely pathogenic	664361	rs1454639285	GRCh37: 6:56500514-56500514 GRCh38: 6:56635716-56635716
35	DST	NM_015548.5(DST):c.15018+1G>A	SNV	Likely pathogenic	967051		GRCh37: 6:56328362-56328362 GRCh38: 6:56463564-56463564
36	DST	NM_015548.5(DST):c.9726+1G>A	SNV	Likely pathogenic	968603		GRCh37: 6:56394245-56394245 GRCh38: 6:56529447-56529447
37	DST	NM_015548.5(DST):c.2670+1G>A	SNV	Likely pathogenic	660548	rs1587154269	GRCh37: 6:56495042-56495042 GRCh38: 6:56630244-56630244
38	DST	NM_015548.5(DST):c.11476A>T (p.Lys3826Ter)	SNV	Likely pathogenic	559659	rs1562435373	GRCh37: 6:56371482-56371482 GRCh38: 6:56506684-56506684
39	DST	NM_015548.5(DST):c.15461C>T (p.Pro5154Leu)	SNV	Likely pathogenic	617590	rs1242078669	GRCh37: 6:56323858-56323858 GRCh38: 6:56459060-56459060
40	DST-AS1 , DST	NM_001144769.3(DST):c.608C>A (p.Ala203Glu)	SNV	Likely pathogenic	559660	rs201871537	GRCh37: 6:56716212-56716212 GRCh38: 6:56851414-56851414
41	DST	NM_015548.5(DST):c.645A>T (p.Ser215=)	SNV	Conflicting interpretations of pathogenicity	357617	rs113432929	GRCh37: 6:56505175-56505175 GRCh38: 6:56640377-56640377
42	DST	NM_015548.5(DST):c.3318+4896G>A	SNV	Uncertain significance	357574	rs147704763	GRCh37: 6:56484432-56484432 GRCh38: 6:56619634-56619634
43	DST	NM_015548.5(DST):c.3027+7A>T	SNV	Uncertain significance	357594	rs185349093	GRCh37: 6:56492790-56492790 GRCh38: 6:56627992-56627992
44	DST	NM_015548.5(DST):c.3319-4293G>A	SNV	Uncertain significance	357565	rs886061645	GRCh37: 6:56483575-56483575 GRCh38: 6:56618777-56618777
45	DST	NM_015548.5(DST):c.3318+4546G>A	SNV	Uncertain significance	357580	rs377356403	GRCh37: 6:56484782-56484782 GRCh38: 6:56619984-56619984
46	DST	NM_015548.5(DST):c.767T>C (p.Met256Thr)	SNV	Uncertain significance	474554	rs912256488	GRCh37: 6:56505053-56505053 GRCh38: 6:56640255-56640255
47	DST	NM_015548.5(DST):c.3319-1759G>T	SNV	Uncertain significance	357550	rs769369001	GRCh37: 6:56481041-56481041 GRCh38: 6:56616243-56616243
48	DST	NM_015548.5(DST):c.3318+4586C>G	SNV	Uncertain significance	357578	rs886061648	GRCh37: 6:56484742-56484742 GRCh38: 6:56619944-56619944
49	DST	NM_015548.5(DST):c.3319-428G>A	SNV	Uncertain significance	357532	rs886061640	GRCh37: 6:56479710-56479710 GRCh38: 6:56614912-56614912
50	DST	NM_015548.5(DST):c.3318+4186C>T	SNV	Uncertain significance	357586	rs374143007	GRCh37: 6:56485142-56485142 GRCh38: 6:56620344-56620344

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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

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	cell projection	GO:0042995	9.62	MAPRE1 MACF1 DST CAMSAP3
2	cell junction	GO:0030054	9.58	MACF1 DST CAMSAP3
3	intermediate filament	GO:0005882	9.43	MACF1 DST
4	ciliary basal body	GO:0036064	9.37	MAPRE1 CAMSAP3
5	cytoskeleton	GO:0005856	9.35	MTCL1 MAPRE1 MACF1 DST CAMSAP3
6	microtubule cytoskeleton	GO:0015630	9.33	MAPRE1 DST CAMSAP3
7	microtubule plus-end	GO:0035371	9.26	MAPRE1 DST
8	microtubule	GO:0005874	8.92	MAPRE1 MACF1 DST CAMSAP3

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	9.4	MACF1 DST
2	wound healing	GO:0042060	9.37	MACF1 DST
3	regulation of cell migration	GO:0030334	9.32	MACF1 CAMSAP3
4	cytoplasmic microtubule organization	GO:0031122	9.26	DST CAMSAP3
5	microtubule bundle formation	GO:0001578	9.16	MTCL1 MAPRE1
6	regulation of focal adhesion assembly	GO:0051893	8.96	MACF1 CAMSAP3
7	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	9.37	MAPRE1 DST
2	structural molecule activity	GO:0005198	9.32	MACF1 DST
3	cytoskeletal protein binding	GO:0008092	9.26	MACF1 DST
4	microtubule plus-end binding	GO:0051010	9.16	MAPRE1 DST
5	microtubule binding	GO:0008017	9.02	MTCL1 MAPRE1 MACF1 DST CAMSAP3
6	microtubule minus-end binding	GO:0051011	8.96	MACF1 CAMSAP3

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Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

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⁴⁸ NCBI Bookshelf

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⁵⁷ OMIM® (Updated 20-May-2021)

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⁷² UniProtKB/Swiss-Prot

⁷³ 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:

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OMIM®:

HPO:

Classifications:

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Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 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

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

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

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

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