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 ¹³ ⁷⁰

Hereditary Sensory Neuropathy Type 1d ¹² ²⁹ ⁶ ¹⁵

Hsn1d ⁵⁷ ¹² ⁷²

Neuropathy, Sensory, Hereditary, Type Id ³⁹

Hereditary Sensory Neuropathy Type Id ⁷²

Neuropathy, Hereditary Sensory, 1d ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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

Inheritance:
autosomal dominant

HPO:

³¹

neuropathy, hereditary sensory, type id:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070156

OMIM® ⁵⁷ 613708

OMIM Phenotypic Series ⁵⁷ PS162400

MeSH ⁴⁴ D009477

MedGen ⁴¹ C3150972

SNOMED-CT via HPO ⁶⁸ 111253001 128208007 205091006 more

UMLS ⁷⁰ 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 20-May-2021)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type Id, also known as hereditary sensory neuropathy type 1d, is related to neuropathy, hereditary sensory, type ie and neuropathy, hereditary sensory and autonomic, type ic. An important gene associated with Neuropathy, Hereditary Sensory, Type Id is ATL1 (Atlastin GTPase 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Vesicle-mediated transport. Related phenotypes are hyperreflexia and paresthesia

Disease Ontology : ¹² 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 : ⁷² Neuropathy, hereditary sensory, 1D: 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 56)

#	Related Disease	Score	Top Affiliating Genes
1	neuropathy, hereditary sensory, type ie	31.7	SPTLC2 SPTLC1
2	neuropathy, hereditary sensory and autonomic, type ic	10.2	SPTLC2 SPTLC1
3	hereditary spastic paraplegia 72	10.2	SPAST ATL1
4	neuropathy, hereditary sensory and autonomic, type ia	10.2	SPTLC2 SPTLC1
5	spastic paraplegia 14, autosomal recessive	10.2	SPAST ATL1
6	charcot-marie-tooth disease, dominant intermediate c	10.2	SPTLC1 DNM2
7	spastic paraplegia 61, autosomal recessive	10.2	SPAST ATL1
8	spastic paraplegia 33, autosomal dominant	10.2	SPAST ATL1
9	spastic paraplegia 41, autosomal dominant	10.2	SPAST KIF5A
10	spastic paraplegia 43, autosomal recessive	10.1	SPAST ATL1
11	nephrotic syndrome, type 14	10.1	SPTLC2 SPTLC1
12	spastic paraplegia 48, autosomal recessive	10.1	SPAST ATL1
13	spastic paraplegia 5a, autosomal recessive	10.1	SPAST KIF5A
14	spastic paraplegia 39, autosomal recessive	10.1	SPAST ATL1
15	spastic paraplegia 42, autosomal dominant	10.1	SPAST ATL1
16	charcot-marie-tooth disease intermediate type	10.1	PLEK DNM2
17	spastic paraplegia 20, autosomal recessive	10.1	SPAST ATL1
18	pure hereditary spastic paraplegia	10.1	SPAST KIF5A ATL1
19	hereditary spastic paraplegia 30	10.1	SPAST KIF5A ATL1
20	spastic paraplegia 12, autosomal dominant	10.1	SPAST KIF5A ATL1
21	spastic paraplegia 6, autosomal dominant	10.1	SPAST KIF5A ATL1
22	spastic paraplegia 31, autosomal dominant	10.1	SPAST KIF5A ATL1
23	spastic paraplegia 13, autosomal dominant	10.1	SPAST KIF5A ATL1
24	spastic paraplegia 15, autosomal recessive	10.1	SPAST KIF5A ATL1
25	spastic paraplegia 8, autosomal dominant	10.0	SPAST KIF5A ATL1
26	spastic paraplegia 10, autosomal dominant	10.0	SPAST KIF5A ATL1
27	spastic paraplegia 4, autosomal dominant	10.0	SPAST KIF5A ATL1
28	masa syndrome	10.0	SPAST KIF5A ATL1
29	spastic paraplegia 17, autosomal dominant	10.0	SPAST KIF5A ATL1
30	spastic paraplegia 2, x-linked	10.0	SPAST KIF5A ATL1
31	leukodystrophy, hypomyelinating, 12	9.9	RAB7B RAB7A
32	centronuclear myopathy	9.8	PLEK DNM3 DNM2 DNM1
33	myopathy, centronuclear, 1	9.8	PLEK DNM3 DNM2 DNM1
34	charcot-marie-tooth disease, type 4b1	9.8	RAB7A DNM2
35	hereditary motor and sensory neuropathy, type iic	9.8	RAB7B RAB7A DNM2
36	cataract 8, multiple types	9.7	RAB7B RAB7A DNM2
37	charcot-marie-tooth disease, type 4j	9.7	RAB7B RAB7A
38	charcot-marie-tooth disease, type 4b2	9.7	RAB7B RAB7A DNM2
39	charcot-marie-tooth disease, axonal, type 2l	9.7	SPTLC1 RAB7B RAB7A
40	vici syndrome	9.7	RAB7B RAB7A
41	hereditary sensory and autonomic neuropathy type 1	9.7	SPTLC2 SPTLC1 RAB7A ATL1
42	hereditary sensory neuropathy	9.7	SPTLC2 SPTLC1 RAB7A ATL1
43	legionnaire disease	9.6	RAB7B RAB7A
44	charcot-marie-tooth disease, demyelinating, type 1c	9.6	SPTLC2 RAB7B RAB7A DNM2
45	charcot-marie-tooth disease, axonal, type 2b	9.6	SPTLC1 RAB7B RAB7A DNM2
46	neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux	9.6	SPTLC2 SPTLC1 RAB7B RAB7A
47	peripheral nervous system disease	9.5	SPTLC1 RAB7B RAB7A DNM2
48	neuropathy, hereditary sensory and autonomic, type iia	9.5	SPTLC2 SPTLC1 RAB7B RAB7A
49	warburg micro syndrome	9.5	RAB7B RAB7A
50	charcot-marie-tooth disease and deafness	9.4	SPTLC2 SPTLC1 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:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	hyperreflexia ³¹	occasional (7.5%)	HP:0001347
2	paresthesia ³¹		HP:0003401
3	pes cavus ³¹		HP:0001761
4	osteomyelitis ³¹		HP:0002754
5	nail dysplasia ³¹		HP:0002164
6	nail dystrophy ³¹		HP:0008404
7	distal sensory impairment ³¹		HP:0002936
8	distal amyotrophy ³¹		HP:0003693
9	peripheral axonal neuropathy ³¹		HP:0003477
10	distal sensory loss of all modalities ³¹		HP:0006984
11	autoamputation ³¹		HP:0001218

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 20-May-2021)

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

⁴⁶

#	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	Hereditary Sensory Neuropathy Type 1d ²⁹	ATL1

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Anatomical Context for Neuropathy, Hereditary Sensory, Type Id

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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 ⁶	Guelly C...Auer-Grumbach M	21194679	2011
2	De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. ⁶	Leonardi L...Casali C	25637064	2015
3	ER network formation and membrane fusion by atlastin1/SPG3A disease variants. ⁶	Ulengin I...Lee TH	25761634	2015
4	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. ⁶	Novarino G...Gleeson JG	24482476	2014
5	SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. ⁶	Terada T...Miyajima H	23233086	2013
6	Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. ⁶	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. ⁶	Botzolakis EJ...Hedera P	20816793	2011
8	Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. ⁶	Kwon MJ...Ki CS	20947813	2010
9	Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. ⁶	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	1331.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	21194679
2	DNM2	Dynamin 2	Protein Coding	6.08	DISEASES inferred ¹⁵
3	DNM3	Dynamin 3	Protein Coding	5.47	DISEASES inferred ¹⁵
4	SPTLC2	Serine Palmitoyltransferase Long Chain Base Subunit 2	Protein Coding	5.45	DISEASES inferred ¹⁵
5	KIF5A	Kinesin Family Member 5A	Protein Coding	5.27	DISEASES inferred ¹⁵
6	SPTLC1	Serine Palmitoyltransferase Long Chain Base Subunit 1	Protein Coding	5.24	DISEASES inferred ¹⁵
7	DNM1	Dynamin 1	Protein Coding	4.99	DISEASES inferred ¹⁵
8	SPAST	Spastin	Protein Coding	4.94	DISEASES inferred ¹⁵
9	RAB7B	RAB7B, Member RAS Oncogene Family	Protein Coding	4.45	DISEASES inferred ¹⁵
10	SMAD9	SMAD Family Member 9	Protein Coding	4.44	DISEASES inferred ¹⁵
11	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	4.43	DISEASES inferred ¹⁵
12	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	4.41	DISEASES inferred ¹⁵
13	PLEK	Pleckstrin	Protein Coding	4.19	DISEASES inferred ¹⁵

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Variations for Neuropathy, Hereditary Sensory, Type Id

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

⁶ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATL1	NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys)	SNV	Pathogenic	30579	rs1555365597	GRCh37: 14:51089912-51089912 GRCh38: 14:50623194-50623194
2	ATL1	NM_001127713.1(ATL1):c.196G>C (p.Glu66Gln)	SNV	Pathogenic	30580	rs200314808	GRCh37: 14:51054710-51054710 GRCh38: 14:50587992-50587992
3	ATL1	NM_015915.5(ATL1):c.976del (p.Val326fs)	Deletion	Pathogenic	637513	rs1595619553	GRCh37: 14:51087429-51087429 GRCh38: 14:50620711-50620711
4	ATL1	NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys)	SNV	Pathogenic	4346	rs119476046	GRCh37: 14:51080061-51080061 GRCh38: 14:50613343-50613343
5	ATL1	NM_015915.5(ATL1):c.1111dup (p.Met371fs)	Duplication	Likely pathogenic	638382	rs1566733927	GRCh37: 14:51089951-51089952 GRCh38: 14:50623233-50623234
6	ATL1	NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu)	SNV	Uncertain significance	976249		GRCh37: 14:51099014-51099014 GRCh38: 14:50632296-50632296
7	ATL1	NM_015915.5(ATL1):c.169C>T (p.Leu57Phe)	SNV	Uncertain significance	930242		GRCh37: 14:51054683-51054683 GRCh38: 14:50587965-50587965
8	ATL1	NM_015915.5(ATL1):c.833C>T (p.Thr278Ile)	SNV	Uncertain significance	931613		GRCh37: 14:51081200-51081200 GRCh38: 14:50614482-50614482
9	ATL1	NM_001127713.1(ATL1):c.922G>A (p.Glu308Lys)	SNV	Uncertain significance	425042	rs773401705	GRCh37: 14:51087376-51087376 GRCh38: 14:50620658-50620658
10	ATL1	NM_001127713.1(ATL1):c.630+7G>A	SNV	Benign	136428	rs3759588	GRCh37: 14:51062357-51062357 GRCh38: 14:50595639-50595639
11	ATL1	NM_001127713.1(ATL1):c.84A>G (p.Pro28=)	SNV	Benign	21534	rs35014209	GRCh37: 14:51054598-51054598 GRCh38: 14:50587880-50587880

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

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	ATL1	p.Glu66Gln	VAR_065508	rs200314808
2	ATL1	p.Asn355Lys	VAR_065510	rs155536559

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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	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.17	VAV1 RAB7A KIF5A DNM3 DNM2 DNM1
2	Vesicle-mediated transport ⁶⁵ Show member pathways Membrane Trafficking ⁶⁵	13.04	RAB7B RAB7A KIF5A DNM3 DNM2 DNM1
3	Salmonella infection (KEGG) ³⁶ Show member pathways Pathogenic Escherichia coli infection ³⁶	12.47	RAB7B RAB7A KIF5A DNM2
4	Cytoskeletal Signaling ⁴	12.14	VAV1 RAB7A DNM2 DNM1 ATL1
5	Clathrin-mediated endocytosis ⁶⁵ Show member pathways Cargo recognition for clathrin-mediated endocytosis ⁶⁵	12.09	DNM3 DNM2 DNM1
6	Endocytosis ³⁶	11.96	RAB7A KIF5A DNM3 DNM2 DNM1
7	Synaptic vesicle cycle ³⁶ Show member pathways Synaptic Vesicle Pathway ¹	11.78	DNM3 DNM2 DNM1
8	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.75	DNM3 DNM2 DNM1
9	Endocytic Trafficking of EGFR ⁶³ Show member pathways Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) ²³ Recycling pathway of L1 ⁶⁵ Retrograde neurotrophin signalling ⁶⁵	11.5	DNM3 DNM2 DNM1
10	Bacterial invasion of epithelial cells ³⁶	11.47	DNM3 DNM2 DNM1
11	Remodeling of Adherens Junctions ⁶³	11.46	VAV1 RAB7B RAB7A DNM2 DNM1
12	G Protein coupled Receptors Signaling ⁶⁶	11.36	DNM3 DNM2 DNM1
13	Endocrine and other factor-regulated calcium reabsorption ³⁶	11.22	DNM3 DNM2 DNM1
14	MHC class II antigen presentation ⁶⁵	11.03	RAB7A KIF5A DNM3 DNM2 DNM1

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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:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.25	SPTLC2 SPTLC1 SPAST RAB7B RAB7A PLEK
2	axon	GO:0030424	9.76	DNM3 DNM2 DNM1 ATL1
3	cytoplasmic vesicle	GO:0031410	9.73	SPAST RAB7B RAB7A DNM3 DNM2 DNM1
4	mitochondrial membrane	GO:0031966	9.67	DNM3 DNM2 DNM1
5	presynapse	GO:0098793	9.65	DNM3 DNM2 DNM1
6	microtubule cytoskeleton	GO:0015630	9.62	SPAST DNM3 DNM2 DNM1
7	phagocytic vesicle membrane	GO:0030670	9.58	RAB7B RAB7A DNM2
8	microtubule	GO:0005874	9.55	SPAST KIF5A DNM3 DNM2 DNM1
9	endoplasmic reticulum tubular network	GO:0071782	9.43	SPAST ATL1
10	serine C-palmitoyltransferase complex	GO:0017059	9.37	SPTLC2 SPTLC1
11	dendritic spine head	GO:0044327	9.13	DNM3 DNM2 DNM1
12	postsynaptic endocytic zone membrane	GO:0098844	8.8	DNM3 DNM2 DNM1

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	endocytosis	GO:0006897	9.8	RAB7A DNM3 DNM2 DNM1
2	antigen processing and presentation of exogenous peptide antigen via MHC class II	GO:0019886	9.7	RAB7A KIF5A DNM2
3	membrane fusion	GO:0061025	9.63	DNM3 DNM2 DNM1
4	receptor internalization	GO:0031623	9.61	DNM3 DNM2 DNM1
5	biosynthetic process	GO:0009058	9.58	SPTLC2 SPTLC1
6	ceramide biosynthetic process	GO:0046513	9.57	SPTLC2 SPTLC1
7	synaptic vesicle transport	GO:0048489	9.56	KIF5A DNM2
8	sphingosine biosynthetic process	GO:0046512	9.55	SPTLC2 SPTLC1
9	G protein-coupled receptor internalization	GO:0002031	9.54	DNM2 DNM1
10	mitochondrial fission	GO:0000266	9.54	DNM3 DNM2 DNM1
11	phagosome-lysosome fusion	GO:0090385	9.51	RAB7B RAB7A
12	regulation of synapse structure or activity	GO:0050803	9.5	DNM3 DNM2 DNM1
13	positive regulation of lipophagy	GO:1904504	9.48	SPTLC2 SPTLC1
14	postsynaptic neurotransmitter receptor internalization	GO:0098884	9.43	DNM3 DNM2 DNM1
15	positive regulation of synaptic vesicle recycling	GO:1903423	9.4	DNM3 DNM1
16	dynamin family protein polymerization involved in mitochondrial fission	GO:0003374	9.33	DNM3 DNM2 DNM1
17	organelle fission	GO:0048285	9.13	DNM3 DNM2 DNM1
18	synaptic vesicle budding from presynaptic endocytic zone membrane	GO:0016185	8.8	DNM3 DNM2 DNM1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.92	SPAST RAB7B RAB7A KIF5A DNM3 DNM2
2	microtubule binding	GO:0008017	9.65	SPAST KIF5A DNM3 DNM2 DNM1
3	GTP binding	GO:0005525	9.43	RAB7B RAB7A DNM3 DNM2 DNM1 ATL1
4	D2 dopamine receptor binding	GO:0031749	9.4	DNM2 DNM1
5	serine C-palmitoyltransferase activity	GO:0004758	9.37	SPTLC2 SPTLC1
6	nitric-oxide synthase binding	GO:0050998	9.33	DNM3 DNM2 DNM1
7	GTPase activity	GO:0003924	9.1	RAB7B RAB7A DNM3 DNM2 DNM1 ATL1

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Sources for Neuropathy, Hereditary Sensory, Type Id

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Neuropathy, Hereditary Sensory, Type Id (HSN1D)

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Id

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

Characteristics:

OMIM®:

HPO:

Classifications:

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®:

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

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Id

Genetic Tests for Neuropathy, Hereditary Sensory, Type Id

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

Anatomical Context for Neuropathy, Hereditary Sensory, Type Id

Publications for Neuropathy, Hereditary Sensory, Type Id

Articles related to Neuropathy, Hereditary Sensory, Type Id:

Genes for Neuropathy, Hereditary Sensory, Type Id

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

Variations for Neuropathy, Hereditary Sensory, Type Id

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

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

Expression for Neuropathy, Hereditary Sensory, Type Id

Pathways for Neuropathy, Hereditary Sensory, Type Id

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

GO Terms for Neuropathy, Hereditary Sensory, Type Id

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