HSN2C
MCID: NRP029
MIFTS: 21

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 57 13 73
Hsn2c 57 12 75
Hereditary Sensory Neuropathy Type Iic 12 75
Neuropathy, Sensory, Hereditary, Type Iic 40
Hereditary Sensory Neuropathy Type 2c 12
Neuropathy, Hereditary Sensory, 2c 75
Hsn Iice 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in childhood


HPO:

32
neuropathy, hereditary sensory, type iic:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neuropathy, Hereditary Sensory, Type Iic

OMIM : 57 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). Affiliated tissues include bone, and 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 short stature 32 occasional (7.5%) HP:0004322
3 peripheral neuropathy 32 HP:0009830
4 areflexia 32 HP:0001284
5 hyporeflexia 32 HP:0001265

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

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory, Type Iic:

41
Bone

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 KIF1A, 1-BP DEL, 2840T deletion Pathogenic
2 KIF1A KIF1A, 1-BP DUP, 5271C duplication Pathogenic
3 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh37 Chromosome 2, 241727535: 241727535
4 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh38 Chromosome 2, 240788118: 240788118
5 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh37 Chromosome 2, 241696754: 241696754
6 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh38 Chromosome 2, 240757337: 240757337
7 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh37 Chromosome 2, 241706757: 241706757
8 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh38 Chromosome 2, 240767340: 240767340
9 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh37 Chromosome 2, 241700676: 241700676
10 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh38 Chromosome 2, 240761259: 240761259
11 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh37 Chromosome 2, 241727597: 241727597
12 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh38 Chromosome 2, 240788180: 240788180
13 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh37 Chromosome 2, 241700141: 241700141
14 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh38 Chromosome 2, 240760724: 240760724
15 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Benign/Likely benign rs116297894 GRCh37 Chromosome 2, 241686737: 241686737
16 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Benign/Likely benign rs116297894 GRCh38 Chromosome 2, 240747320: 240747320
17 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh37 Chromosome 2, 241685247: 241685247
18 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh38 Chromosome 2, 240745830: 240745830
19 KIF1A NM_004321.7(KIF1A): c.393C> T (p.Asn131=) single nucleotide variant Benign/Likely benign rs35139906 GRCh37 Chromosome 2, 241726704: 241726704
20 KIF1A NM_004321.7(KIF1A): c.393C> T (p.Asn131=) single nucleotide variant Benign/Likely benign rs35139906 GRCh38 Chromosome 2, 240787287: 240787287
21 KIF1A NM_004321.7(KIF1A): c.3840G> A (p.Pro1280=) single nucleotide variant Benign/Likely benign rs2241683 GRCh37 Chromosome 2, 241664801: 241664801
22 KIF1A NM_004321.7(KIF1A): c.3840G> A (p.Pro1280=) single nucleotide variant Benign/Likely benign rs2241683 GRCh38 Chromosome 2, 240725384: 240725384
23 KIF1A NM_004321.7(KIF1A): c.4016-8C> T single nucleotide variant Benign/Likely benign rs1529663 GRCh37 Chromosome 2, 241662983: 241662983
24 KIF1A NM_004321.7(KIF1A): c.4016-8C> T single nucleotide variant Benign/Likely benign rs1529663 GRCh38 Chromosome 2, 240723566: 240723566
25 KIF1A NM_004321.7(KIF1A): c.4509C> A (p.Thr1503=) single nucleotide variant Benign/Likely benign rs76974316 GRCh37 Chromosome 2, 241660387: 241660387
26 KIF1A NM_004321.7(KIF1A): c.4509C> A (p.Thr1503=) single nucleotide variant Benign/Likely benign rs76974316 GRCh38 Chromosome 2, 240720970: 240720970
27 KIF1A NM_004321.7(KIF1A): c.2899+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs190997558 GRCh37 Chromosome 2, 241685446: 241685446
28 KIF1A NM_004321.7(KIF1A): c.2899+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs190997558 GRCh38 Chromosome 2, 240746029: 240746029
29 KIF1A NM_004321.7(KIF1A): c.4446C> T (p.Ser1482=) single nucleotide variant Benign/Likely benign rs371737085 GRCh37 Chromosome 2, 241660450: 241660450
30 KIF1A NM_004321.7(KIF1A): c.4446C> T (p.Ser1482=) single nucleotide variant Benign/Likely benign rs371737085 GRCh38 Chromosome 2, 240721033: 240721033
31 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
32 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh38 Chromosome 2, 240788208: 240788208
33 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh37 Chromosome 2, 241727608: 241727608
34 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh38 Chromosome 2, 240788191: 240788191
35 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh37 Chromosome 2, 241685270: 241685270
36 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh38 Chromosome 2, 240745853: 240745853
37 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh37 Chromosome 2, 241680767: 241680767
38 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh38 Chromosome 2, 240741350: 240741350
39 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh37 Chromosome 2, 241737132: 241737132
40 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh38 Chromosome 2, 240797715: 240797715
41 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh38 Chromosome 2, 240719868: 240719868
42 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh37 Chromosome 2, 241659285: 241659285
43 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh38 Chromosome 2, 240722517: 240722517
44 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh37 Chromosome 2, 241661934: 241661934
45 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh38 Chromosome 2, 240744058: 240744058
46 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh37 Chromosome 2, 241683475: 241683475
47 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh38 Chromosome 2, 240745767: 240745767
48 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh37 Chromosome 2, 241685184: 241685184
49 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh38 Chromosome 2, 240745866: 240745866
50 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh37 Chromosome 2, 241685283: 241685283

Expression for Neuropathy, Hereditary Sensory, Type Iic

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GO Terms for Neuropathy, Hereditary Sensory, Type Iic

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