Neuropathy, Hereditary Sensory, Type Id disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Id

MalaCards integrated aliases for Neuropathy, Hereditary Sensory, Type Id:

Name: Neuropathy, Hereditary Sensory, Type Id ⁵⁷ ⁷¹

Hsn1d ⁵⁷ ¹¹ ⁷³

Neuropathy, Hereditary Sensory, Type 1d ²⁸ ⁵

Hereditary Sensory Neuropathy Type 1d ¹¹ ¹⁴

Neuropathy, Sensory, Hereditary, Type Id ³⁸

Hereditary Sensory Neuropathy Type Id ⁷³

Neuropathy, Hereditary Sensory, 1d ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
adult onset
progressive disorder
allelic disorder to spastic paraplegia-3 (spg3, )

HPO:

³⁰

neuropathy, hereditary sensory, type id:
Onset and clinical course progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0070156

OMIM® ⁵⁷ 613708

OMIM Phenotypic Series ⁵⁷ PS162400

MeSH ⁴³ D009477

MedGen ⁴⁰ C3150972

SNOMED-CT via HPO ⁶⁹ 111253001 128208007 205091006 more

UMLS ⁷¹ C3150972

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Summaries for Neuropathy, Hereditary Sensory, Type Id

OMIM®: ⁵⁷ Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400). Spastic paraplegia-3A (SPG3A; 182600) is an allelic disorder with a different phenotype. (613708) (Updated 08-Dec-2022)

MalaCards based summary: Neuropathy, Hereditary Sensory, Type Id, also known as hsn1d, is related to neuropathy, hereditary sensory, type ie and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Neuropathy, Hereditary Sensory, Type Id is ATL1 (Atlastin GTPase 1), and among its related pathways/superpathways are Signal Transduction and Class I MHC mediated antigen processing and presentation. Affiliated tissues include peripheral nerve, and related phenotypes are hyperreflexia and paresthesia

Disease Ontology: ¹¹ A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.

UniProtKB/Swiss-Prot: ⁷³ A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement.

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Related Diseases for Neuropathy, Hereditary Sensory, Type Id

Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Id	Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Iic	Neuropathy, Hereditary Sensory, Type if
Sptlc1-Related Hereditary Sensory Neuropathy

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

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	neuropathy, hereditary sensory, type ie	31.7	SPTLC2 SPTLC1
2	neuropathy, hereditary sensory and autonomic, type v	10.2	SPTLC2 SPTLC1
3	neuropathy, hereditary sensory and autonomic, type vii	10.2	SPTLC2 SPTLC1
4	neuropathy, hereditary sensory and autonomic, type viii	10.2	SPTLC2 SPTLC1
5	neuropathy, hereditary sensory and autonomic, type ic	10.2	SPTLC2 SPTLC1
6	neuropathy, hereditary sensory and autonomic, type ia	10.2	SPTLC2 SPTLC1
7	neuronopathy, distal hereditary motor, type iib	10.2	SPTLC2 SPTLC1
8	spastic paraplegia 34, x-linked	10.2	SPAST ATL1
9	spastic paraplegia 3, autosomal dominant	10.2	SPAST ATL1
10	spastic paraplegia 62, autosomal recessive	10.2	SPAST ATL1
11	spastic paraplegia 53, autosomal recessive	10.2	SPAST ATL1
12	hereditary spastic paraplegia 49	10.2	SPAST ATL1
13	spastic paraplegia 14, autosomal recessive	10.2	SPAST ATL1
14	spastic paraplegia 6, autosomal dominant	10.2	SPAST ATL1
15	spastic paraplegia 61, autosomal recessive	10.2	SPAST ATL1
16	spastic paraplegia 31, autosomal dominant	10.2	SPAST ATL1
17	spastic paraplegia 73, autosomal dominant	10.2	SPAST ATL1
18	spastic paraplegia 57, autosomal recessive	10.2	SPAST ATL1
19	nephrotic syndrome, type 14	10.2	SPTLC2 SPTLC1
20	charcot-marie-tooth disease, type 4c	10.2	SPTLC2 DNM2
21	spastic paraplegia 18, autosomal recessive	10.2	SPAST ATL1
22	spastic paraplegia 54, autosomal recessive	10.2	SPAST ATL1
23	spastic paraplegia 8, autosomal dominant	10.2	SPAST ATL1
24	spastic paraplegia 75, autosomal recessive	10.2	SPAST KIF5A
25	spastic paraplegia 43, autosomal recessive	10.1	SPAST ATL1
26	hereditary spastic paraplegia 35	10.1	SPAST ATL1
27	spastic paraplegia 12, autosomal dominant	10.1	SPAST ATL1
28	spastic paraplegia 20, autosomal recessive	10.1	SPAST ATL1
29	hereditary sensory neuropathy	10.1	SPTLC2 SPTLC1 ATL1
30	spastic cerebral palsy	10.1	SPAST ATL1
31	paraplegia	10.1	SPAST KIF5A ATL1
32	spastic paraplegia 4, autosomal dominant	10.1	SPAST ATL1
33	hereditary spastic paraplegia 30	10.1	SPAST KIF5A ATL1
34	spastic paraplegia 42, autosomal dominant	10.0	SPAST KIF5A ATL1
35	spastic paraplegia 13, autosomal dominant	10.0	SPAST KIF5A ATL1
36	masa syndrome	10.0	SPAST KIF5A ATL1
37	spastic paraplegia 2, x-linked	10.0	SPAST KIF5A ATL1
38	spastic paraplegia 10, autosomal dominant	10.0	SPAST KIF5A ATL1
39	charcot-marie-tooth disease, x-linked dominant, 1	10.0	SPTLC2 SPTLC1
40	centronuclear myopathy	9.9	PLEK DNM2 DNM1
41	hereditary motor and sensory neuropathy, type iic	9.9	RAB7A DNM2
42	spastic paraplegia 17, autosomal dominant	9.9	SPTLC1 SPAST KIF5A ATL1
43	spastic ataxia	9.9	SPAST KIF5A ATL1
44	spinocerebellar ataxia, autosomal recessive 15	9.9	RAB7B RAB7A
45	wiskott-aldrich syndrome	9.8	VAV1 PLEK DNM3
46	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	9.8	RAB7B RAB7A
47	charcot-marie-tooth disease, axonal, type 2l	9.8	RAB7B RAB7A
48	c syndrome	9.8	RAB7B RAB7A
49	vici syndrome	9.7	RAB7B RAB7A
50	charcot-marie-tooth disease, type 4b2	9.7	RAB7B RAB7A DNM2

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory, Type Id:

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Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Id

Human phenotypes related to Neuropathy, Hereditary Sensory, Type Id:

³⁰ (show all 10)

#	Description	HPO Source Accession
1	hyperreflexia ³⁰	HP:0001347
2	paresthesia ³⁰	HP:0003401
3	pes cavus ³⁰	HP:0001761
4	osteomyelitis ³⁰	HP:0002754
5	nail dystrophy ³⁰	HP:0008404
6	distal sensory impairment ³⁰	HP:0002936
7	autoamputation of digits ³⁰	HP:0007460
8	peripheral axonal neuropathy ³⁰	HP:0003477
9	distal lower limb amyotrophy ³⁰	HP:0008944
10	distal sensory impairment of all modalities ³⁰	HP:0003409

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Peripheral Nervous System:
paresthesia
distal sensory loss of all modalities (pain, temperature, touch, vibration)
lower limbs more affected than upper limbs
sensorimotor axonal neuropathy
reflexes may be decreased, normal, or increased
more

Skeletal Feet:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy
pes cavus, mild

Skin Nails Hair Skin:
ulcers, distal, painless, due to sensory neuropathy

Neurologic Central Nervous System:
upper motor involvement (some patient)
hyperreflexia (some patients)
spasticity in infancy (1 patient)

Skeletal Hands:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

Skin Nails Hair Nails:
dystrophic nails

Muscle Soft Tissue:
distal limb muscular atrophy due to peripheral neuropathy
distal limb muscular weakness due to peripheral neuropathy

Clinical features from OMIM®:

613708 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory, Type Id:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	9.23	DNM1 DNM2 DNM3 KIF5A RAB7A SMAD9

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Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Id

Search Clinical Trials, NIH Clinical Center for Neuropathy, Hereditary Sensory, Type Id

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Genetic Tests for Neuropathy, Hereditary Sensory, Type Id

Genetic tests related to Neuropathy, Hereditary Sensory, Type Id:

#	Genetic test	Affiliating Genes
1	Neuropathy, Hereditary Sensory, Type 1d ²⁸	ATL1

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Anatomical Context for Neuropathy, Hereditary Sensory, Type Id

Organs/tissues related to Neuropathy, Hereditary Sensory, Type Id:

ODiseA: Peripheral Nerve

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Publications for Neuropathy, Hereditary Sensory, Type Id

Articles related to Neuropathy, Hereditary Sensory, Type Id:

#	Title	Authors	PMID	Year
1	Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. ⁵⁷ ⁵	Guelly C...Auer-Grumbach M	21194679	2011
2	De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. ⁵	Leonardi L...Casali C	25637064	2015
3	ER network formation and membrane fusion by atlastin1/SPG3A disease variants. ⁵	Ulengin I...Lee TH	25761634	2015
4	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. ⁵	Novarino G...Gleeson JG	24482476	2014
5	SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. ⁵	Terada T...Miyajima H	23233086	2013
6	Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. ⁵	Zhao J...Hedera P	23079343	2013
7	The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. ⁵	Botzolakis EJ...Hedera P	20816793	2011
8	Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. ⁵	Kwon MJ...Ki CS	20947813	2010
9	Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. ⁵	Zhao X...Fink JK	11685207	2001

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Genes for Neuropathy, Hereditary Sensory, Type Id

Genes related to Neuropathy, Hereditary Sensory, Type Id (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATL1	Atlastin GTPase 1	Protein Coding	1331.3	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	11685207 20816793 20947813 (more) 21194679 23079343 23233086 24482476 25637064 25761634
2	DNM2	Dynamin 2	Protein Coding	5.68	DISEASES inferred ¹⁴
3	SPTLC2	Serine Palmitoyltransferase Long Chain Base Subunit 2	Protein Coding	4.99	DISEASES inferred ¹⁴
4	DNM3	Dynamin 3	Protein Coding	4.99	DISEASES inferred ¹⁴
5	KIF5A	Kinesin Family Member 5A	Protein Coding	4.86	DISEASES inferred ¹⁴
6	SPTLC1	Serine Palmitoyltransferase Long Chain Base Subunit 1	Protein Coding	4.77	DISEASES inferred ¹⁴
7	DNM1	Dynamin 1	Protein Coding	4.58	DISEASES inferred ¹⁴
8	SPAST	Spastin	Protein Coding	4.49	DISEASES inferred ¹⁴
9	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	4	DISEASES inferred ¹⁴
10	RAB7B	RAB7B, Member RAS Oncogene Family	Protein Coding	3.98	DISEASES inferred ¹⁴
11	SMAD9	SMAD Family Member 9	Protein Coding	3.98	DISEASES inferred ¹⁴
12	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	3.9	DISEASES inferred ¹⁴
13	PLEK	Pleckstrin	Protein Coding	3.77	DISEASES inferred ¹⁴

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Variations for Neuropathy, Hereditary Sensory, Type Id

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory, Type Id:

⁵ (show all 34)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATL1	NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)	SNV	Pathogenic	30579	rs1555365597	GRCh37: 14:51089912-51089912 GRCh38: 14:50623194-50623194
2	ATL1	NM_015915.5(ATL1):c.976del (p.Val326fs)	DEL	Pathogenic	637513	rs1595619553	GRCh37: 14:51087429-51087429 GRCh38: 14:50620711-50620711
3	ATL1	NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	SNV	Pathogenic	4346	rs119476046	GRCh37: 14:51080061-51080061 GRCh38: 14:50613343-50613343
4	ATL1	NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)	SNV	Pathogenic	30580	rs200314808	GRCh37: 14:51054710-51054710 GRCh38: 14:50587992-50587992
5	ATL1	NM_015915.5(ATL1):c.1111dup (p.Met371fs)	DUP	Likely Pathogenic	638382	rs1566733927	GRCh37: 14:51089951-51089952 GRCh38: 14:50623233-50623234
6	ATL1	NM_015915.5(ATL1):c.169C>T (p.Leu57Phe)	SNV	Uncertain Significance	930242	rs2039118655	GRCh37: 14:51054683-51054683 GRCh38: 14:50587965-50587965
7	ATL1	NM_015915.5(ATL1):c.833C>T (p.Thr278Ile)	SNV	Uncertain Significance	931613	rs2039395853	GRCh37: 14:51081200-51081200 GRCh38: 14:50614482-50614482
8	ATL1	NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu)	SNV	Uncertain Significance	976249	rs2039590258	GRCh37: 14:51099014-51099014 GRCh38: 14:50632296-50632296
9	ATL1	NM_015915.5(ATL1):c.688G>A (p.Asp230Asn)	SNV	Uncertain Significance	444328	rs768367744	GRCh37: 14:51080034-51080034 GRCh38: 14:50613316-50613316
10	ATL1	NM_015915.5(ATL1):c.922G>A (p.Glu308Lys)	SNV	Uncertain Significance	425042	rs773401705	GRCh37: 14:51087376-51087376 GRCh38: 14:50620658-50620658
11	ATL1	NM_015915.5(ATL1):c.84A>G (p.Pro28=)	SNV	Benign Benign	21534	rs35014209	GRCh37: 14:51054598-51054598 GRCh38: 14:50587880-50587880
12	ATL1	NM_015915.5(ATL1):c.1230G>A (p.Gly410=)	SNV	Benign	241074	rs148548325	GRCh37: 14:51094859-51094859 GRCh38: 14:50628141-50628141
13	ATL1, MAP4K5	NM_015915.5(ATL1):c.30T>C (p.Ser10=)	SNV	Benign	471249	rs146613929	GRCh37: 14:51027013-51027013 GRCh38: 14:50560295-50560295
14	ATL1	NM_015915.5(ATL1):c.306C>A (p.Asp102Glu)	SNV	Benign	538585	rs145204580	GRCh37: 14:51057682-51057682 GRCh38: 14:50590964-50590964
15	ATL1	NM_015915.5(ATL1):c.991-3dup	DUP	Benign	422120	rs753642042	GRCh37: 14:51088549-51088550 GRCh38: 14:50621831-50621832
16	ATL1	NM_015915.5(ATL1):c.991-6T>G	SNV	Benign	313303	rs192428744	GRCh37: 14:51088555-51088555 GRCh38: 14:50621837-50621837
17	ATL1	NM_015915.5(ATL1):c.705C>T (p.Phe235=)	SNV	Benign	313300	rs35044504	GRCh37: 14:51080051-51080051 GRCh38: 14:50613333-50613333
18	ATL1	NM_015915.5(ATL1):c.693T>C (p.Gly231=)	SNV	Benign	313299	rs139720661	GRCh37: 14:51080039-51080039 GRCh38: 14:50613321-50613321
19	ATL1	NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	SNV	Benign	313298	rs146975855	GRCh37: 14:51080015-51080015 GRCh38: 14:50613297-50613297
20	ATL1	NM_015915.5(ATL1):c.621G>A (p.Lys207=)	SNV	Benign	21533	rs35629585	GRCh37: 14:51062341-51062341 GRCh38: 14:50595623-50595623
21	ATL1	NM_015915.5(ATL1):c.630+105G>A	SNV	Benign	670499	rs10131107	GRCh37: 14:51062455-51062455 GRCh38: 14:50595737-50595737
22	ATL1	NM_015915.5(ATL1):c.1119+136_1119+137insAT	INSERT	Benign	678071	rs10626021	GRCh37: 14:51090102-51090103 GRCh38: 14:50623384-50623385
23	ATL1	NM_015915.5(ATL1):c.351G>A (p.Glu117=)	SNV	Benign	21530	rs1060197	GRCh37: 14:51057727-51057727 GRCh38: 14:50591009-50591009
24	ATL1	NM_015915.5(ATL1):c.408T>C (p.Asp136=)	SNV	Benign	313293	rs76375909	GRCh37: 14:51057784-51057784 GRCh38: 14:50591066-50591066
25	ATL1	NM_015915.5(ATL1):c.417+3A>G	SNV	Benign	313294	rs200310890	GRCh37: 14:51057796-51057796 GRCh38: 14:50591078-50591078
26	ATL1	NM_015915.5(ATL1):c.570C>G (p.Leu190=)	SNV	Benign	538584	rs202173614	GRCh37: 14:51060611-51060611 GRCh38: 14:50593893-50593893
27	ATL1	NM_015915.5(ATL1):c.*305T>C	SNV	Benign	313310	rs2291674	GRCh37: 14:51099362-51099362 GRCh38: 14:50632644-50632644
28	ATL1	NM_015915.5(ATL1):c.1552-24_1552-20del	DEL	Benign	1278312		GRCh37: 14:51096685-51096689 GRCh38: 14:50629967-50629971
29	ATL1	NM_015915.5(ATL1):c.1552-68_1552-67insATA	INSERT	Benign	1293178		GRCh37: 14:51096644-51096645 GRCh38: 14:50629926-50629927
30	ATL1	NM_015915.5(ATL1):c.630+7G>A	SNV	Benign Benign	136428	rs3759588	GRCh37: 14:51062357-51062357 GRCh38: 14:50595639-50595639
31	ATL1	NM_015915.5(ATL1):c.418-19G>T	SNV	Benign	1174932		GRCh37: 14:51058234-51058234 GRCh38: 14:50591516-50591516
32	ATL1	NM_015915.5(ATL1):c.35-14G>A	SNV	Benign	516491	rs115722924	GRCh37: 14:51054535-51054535 GRCh38: 14:50587817-50587817
33	ATL1	NM_015915.5(ATL1):c.1635A>G (p.Pro545=)	SNV	Benign	883385	rs191729308	GRCh37: 14:51099015-51099015 GRCh38: 14:50632297-50632297
34	ATL1	NM_015915.5(ATL1):c.921C>T (p.Pro307=)	SNV	Benign	994783	rs535790981	GRCh37: 14:51087375-51087375 GRCh38: 14:50620657-50620657

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory, Type Id:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ATL1	p.Glu66Gln	VAR_065508	rs200314808
2	ATL1	p.Asn355Lys	VAR_065510	rs1555365597

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Expression for Neuropathy, Hereditary Sensory, Type Id

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory, Type Id.

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Pathways for Neuropathy, Hereditary Sensory, Type Id

Pathways related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.39	VAV1 SMAD9 RAB7A KIF5A DNM3 DNM2
2	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing: Ubiquitination and Proteasome degradation ⁶⁶ Neddylation ⁶⁶	13.17	VAV1 RAB7A KIF5A DNM3 DNM2 DNM1
3	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	12.85	RAB7B RAB7A KIF5A DNM3 DNM2 DNM1
4	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Factors involved in megakaryocyte development and platelet production ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶ MHC class II antigen presentation ⁶⁶	12.66	RAB7A KIF5A DNM3 DNM2 DNM1
5	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.5	VAV1 DNM3 DNM2 DNM1
6	Clathrin-mediated endocytosis ⁶⁶ Show member pathways Cargo recognition for clathrin-mediated endocytosis ⁶⁶	12.11	DNM3 DNM2 DNM1
7	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	11.96	DNM3 DNM2 DNM1
8	Cytoskeletal Signaling ³	11.84	VAV1 RAB7A DNM2 DNM1 ATL1
9	Notch Signaling Pathways ⁶⁵	11.5	DNM3 DNM2 DNM1
10	Remodeling of Adherens Junctions ⁶⁴	11.12	VAV1 RAB7B RAB7A DNM2 DNM1
11	Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) ²² Show member pathways Endocytic Trafficking of EGFR ⁶⁴	11.07	DNM2 DNM1
12	Synaptic vesicle pathway ⁷⁴	11.04	DNM3 DNM2 DNM1
13	Intracellular trafficking proteins involved in CMT neuropathy ⁷⁴	10.93	RAB7A DNM2
14	ceramide de novo biosynthesis ⁶¹ Show member pathways sphingolipid biosynthesis (mammals) ⁶¹	10.55	SPTLC1 SPTLC2

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GO Terms for Neuropathy, Hereditary Sensory, Type Id

Cellular components related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phagocytic vesicle membrane	GO:0030670	9.63	RAB7B RAB7A DNM2
2	microtubule	GO:0005874	9.32	SPAST KIF5A DNM3 DNM2 DNM1
3	serine C-palmitoyltransferase complex	GO:0017059	9.26	SPTLC2 SPTLC1

Biological processes related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endocytosis	GO:0006897	9.92	DNM1 DNM2 DNM3 RAB7A
2	synaptic vesicle transport	GO:0048489	9.76	KIF5A DNM2
3	sphingosine biosynthetic process	GO:0046512	9.73	SPTLC2 SPTLC1
4	phagosome-lysosome fusion	GO:0090385	9.71	RAB7B RAB7A
5	sphingomyelin biosynthetic process	GO:0006686	9.67	SPTLC2 SPTLC1
6	receptor internalization	GO:0031623	9.63	DNM3 DNM2 DNM1
7	positive regulation of lipophagy	GO:1904504	9.56	SPTLC2 SPTLC1
8	synaptic vesicle endocytosis	GO:0048488	9.43	DNM3 DNM2 DNM1
9	sphinganine biosynthetic process	GO:0046511	8.92	SPTLC2 SPTLC1

Molecular functions related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	microtubule binding	GO:0008017	9.96	SPAST KIF5A DNM3 DNM2 DNM1
2	GTP binding	GO:0005525	9.93	ATL1 DNM1 DNM2 DNM3 RAB7A RAB7B
3	nitric-oxide synthase binding	GO:0050998	9.67	DNM3 DNM2
4	serine C-palmitoyltransferase activity	GO:0004758	9.62	SPTLC2 SPTLC1
5	nucleotide binding	GO:0000166	9.56	SPAST RAB7B RAB7A KIF5A DNM3 DNM2
6	GTPase activity	GO:0003924	9.4	RAB7B RAB7A DNM3 DNM2 DNM1 ATL1

Sources

Sources for Neuropathy, Hereditary Sensory, Type Id

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HSN1D MCID: NRP039 MIFTS: 41	Neuropathy, Hereditary Sensory, Type Id (HSN1D) Categories: Bone diseases, Ear diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Neuropathy, Hereditary Sensory, Type Id (HSN1D)

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Id

MalaCards integrated aliases for Neuropathy, Hereditary Sensory, Type Id:

Characteristics:

Inheritance:

OMIM®:

HPO:

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External Ids:

Summaries for Neuropathy, Hereditary Sensory, Type Id

Related Diseases for Neuropathy, Hereditary Sensory, Type Id

Diseases in the Hereditary Sensory Neuropathy family:

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

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory, Type Id:

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Id

Human phenotypes related to Neuropathy, Hereditary Sensory, Type Id:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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Genes related to Neuropathy, Hereditary Sensory, Type Id (1 elite genes):

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Pathways related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

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Cellular components related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

Biological processes related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

Molecular functions related to Neuropathy, Hereditary Sensory, Type Id according to GeneCards Suite gene sharing:

Sources for Neuropathy, Hereditary Sensory, Type Id