HSN2C
MCID: NRP029
MIFTS: 20

Neuropathy, Hereditary Sensory, Type Iic (HSN2C)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Iic

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

Name: Neuropathy, Hereditary Sensory, Type Iic 58 13 74
Hsn2c 58 12 76
Hereditary Sensory Neuropathy Type Iic 12 76
Neuropathy, Sensory, Hereditary, Type Iic 41
Hereditary Sensory Neuropathy Type 2c 12
Neuropathy, Hereditary Sensory, 2c 76
Hsn Iice 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in childhood


HPO:

33
neuropathy, hereditary sensory, type iic:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neuropathy, Hereditary Sensory, Type Iic

OMIM : 58 HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011). For a discussion of genetic heterogeneity of HSN, see HSAN1 (162400). (614213)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type Iic, is also known as hsn2c. An important gene associated with Neuropathy, Hereditary Sensory, Type Iic is KIF1A (Kinesin Family Member 1A). Related phenotypes are global developmental delay and short stature

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has material basis in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.

UniProtKB/Swiss-Prot : 76 Neuropathy, hereditary sensory, 2C: A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.

Related Diseases for Neuropathy, Hereditary Sensory, Type Iic

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Iic

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

33
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 short stature 33 occasional (7.5%) HP:0004322
3 peripheral neuropathy 33 HP:0009830
4 areflexia 33 HP:0001284
5 hyporeflexia 33 HP:0001265

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory loss, panmodal (retained in some patients)
spontaneous pain (1 patient)
decreased or absent sensory potentials in the sural, ulnar and median nerves
more
Growth Height:
short stature (1 patient)

Skeletal Feet:
ulceration and amputation of the toes due to sensory loss
equinus deformities (1 patient)

Neurologic Central Nervous System:
delayed psychomotor development (1 patient)

Skeletal Hands:
ulceration and amputation of the fingers due to sensory loss

Muscle Soft Tissue:
distal leg muscle atrophy
distal weakness, upper and lower limbs (variable)
paralysis of the lower limbs (later)

Clinical features from OMIM:

614213

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Iic

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

Genetic Tests for Neuropathy, Hereditary Sensory, Type Iic

Anatomical Context for Neuropathy, Hereditary Sensory, Type Iic

Publications for Neuropathy, Hereditary Sensory, Type Iic

Variations for Neuropathy, Hereditary Sensory, Type Iic

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

6 (show top 50) (show all 494)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
2 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh38 Chromosome 2, 240788208: 240788208
3 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh37 Chromosome 2, 241727608: 241727608
4 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh38 Chromosome 2, 240788191: 240788191
5 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh37 Chromosome 2, 241685270: 241685270
6 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh38 Chromosome 2, 240745853: 240745853
7 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh37 Chromosome 2, 241680767: 241680767
8 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh38 Chromosome 2, 240741350: 240741350
9 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh37 Chromosome 2, 241737132: 241737132
10 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh38 Chromosome 2, 240797715: 240797715
11 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh38 Chromosome 2, 240719868: 240719868
12 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh37 Chromosome 2, 241659285: 241659285
13 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh38 Chromosome 2, 240722517: 240722517
14 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh37 Chromosome 2, 241661934: 241661934
15 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh38 Chromosome 2, 240744058: 240744058
16 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh37 Chromosome 2, 241683475: 241683475
17 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh38 Chromosome 2, 240745767: 240745767
18 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh37 Chromosome 2, 241685184: 241685184
19 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh38 Chromosome 2, 240745866: 240745866
20 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh37 Chromosome 2, 241685283: 241685283
21 KIF1A NM_004321.7(KIF1A): c.2655G> C (p.Val885=) single nucleotide variant Conflicting interpretations of pathogenicity rs186881889 GRCh38 Chromosome 2, 240750448: 240750448
22 KIF1A NM_004321.7(KIF1A): c.2655G> C (p.Val885=) single nucleotide variant Conflicting interpretations of pathogenicity rs186881889 GRCh37 Chromosome 2, 241689865: 241689865
23 KIF1A NM_004321.7(KIF1A): c.2595C> G (p.Pro865=) single nucleotide variant Conflicting interpretations of pathogenicity rs140783695 GRCh38 Chromosome 2, 240750508: 240750508
24 KIF1A NM_004321.7(KIF1A): c.2595C> G (p.Pro865=) single nucleotide variant Conflicting interpretations of pathogenicity rs140783695 GRCh37 Chromosome 2, 241689925: 241689925
25 KIF1A NM_004321.7(KIF1A): c.2448C> T (p.Tyr816=) single nucleotide variant Conflicting interpretations of pathogenicity rs199996308 GRCh38 Chromosome 2, 240758467: 240758467
26 KIF1A NM_004321.7(KIF1A): c.2448C> T (p.Tyr816=) single nucleotide variant Conflicting interpretations of pathogenicity rs199996308 GRCh37 Chromosome 2, 241697884: 241697884
27 KIF1A NM_004321.7(KIF1A): c.883-3C> T single nucleotide variant Uncertain significance rs111507743 GRCh38 Chromosome 2, 240775929: 240775929
28 KIF1A NM_004321.7(KIF1A): c.883-3C> T single nucleotide variant Uncertain significance rs111507743 GRCh37 Chromosome 2, 241715346: 241715346
29 KIF1A NM_004321.7(KIF1A): c.849C> T (p.Ser283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187442951 GRCh38 Chromosome 2, 240783059: 240783059
30 KIF1A NM_004321.7(KIF1A): c.849C> T (p.Ser283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187442951 GRCh37 Chromosome 2, 241722476: 241722476
31 KIF1A NM_004321.7(KIF1A): c.609-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs775915390 GRCh38 Chromosome 2, 240785108: 240785108
32 KIF1A NM_004321.7(KIF1A): c.609-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs775915390 GRCh37 Chromosome 2, 241724525: 241724525
33 KIF1A KIF1A, 1-BP DEL, 2840T deletion Pathogenic
34 KIF1A KIF1A, 1-BP DUP, 5271C duplication Pathogenic
35 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh37 Chromosome 2, 241727535: 241727535
36 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh38 Chromosome 2, 240788118: 240788118
37 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh37 Chromosome 2, 241696754: 241696754
38 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh38 Chromosome 2, 240757337: 240757337
39 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh37 Chromosome 2, 241706757: 241706757
40 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh38 Chromosome 2, 240767340: 240767340
41 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh37 Chromosome 2, 241700676: 241700676
42 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh38 Chromosome 2, 240761259: 240761259
43 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh37 Chromosome 2, 241727597: 241727597
44 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh38 Chromosome 2, 240788180: 240788180
45 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh37 Chromosome 2, 241700141: 241700141
46 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh38 Chromosome 2, 240760724: 240760724
47 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Conflicting interpretations of pathogenicity rs116297894 GRCh37 Chromosome 2, 241686737: 241686737
48 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Conflicting interpretations of pathogenicity rs116297894 GRCh38 Chromosome 2, 240747320: 240747320
49 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh37 Chromosome 2, 241685247: 241685247
50 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh38 Chromosome 2, 240745830: 240745830

Expression for Neuropathy, Hereditary Sensory, Type Iic

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GO Terms for Neuropathy, Hereditary Sensory, Type Iic

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