MCID: NRP029
MIFTS: 20

Neuropathy, Hereditary Sensory, Type Iic

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Ear diseases, Fetal diseases, Mental 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:
onset in childhood
progressive disorder


HPO:

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


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). 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
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)

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

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

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 382)
# 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.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh37 Chromosome 2, 241696754: 241696754
4 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh38 Chromosome 2, 240757337: 240757337
5 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh37 Chromosome 2, 241727608: 241727608
6 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh38 Chromosome 2, 240788191: 240788191
7 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh37 Chromosome 2, 241685270: 241685270
8 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh38 Chromosome 2, 240745853: 240745853
9 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh37 Chromosome 2, 241680767: 241680767
10 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh38 Chromosome 2, 240741350: 240741350
11 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh37 Chromosome 2, 241737132: 241737132
12 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh38 Chromosome 2, 240797715: 240797715
13 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh38 Chromosome 2, 240719868: 240719868
14 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh37 Chromosome 2, 241659285: 241659285
15 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh38 Chromosome 2, 240722517: 240722517
16 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh37 Chromosome 2, 241661934: 241661934
17 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh38 Chromosome 2, 240744058: 240744058
18 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh37 Chromosome 2, 241683475: 241683475
19 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh38 Chromosome 2, 240745767: 240745767
20 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh37 Chromosome 2, 241685184: 241685184
21 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh38 Chromosome 2, 240745866: 240745866
22 KIF1A NM_004321.7(KIF1A): c.2943C> T (p.Ala981=) single nucleotide variant Conflicting interpretations of pathogenicity rs368682964 GRCh37 Chromosome 2, 241685283: 241685283
23 KIF1A NM_004321.7(KIF1A): c.2655G> C (p.Val885=) single nucleotide variant Conflicting interpretations of pathogenicity rs186881889 GRCh38 Chromosome 2, 240750448: 240750448
24 KIF1A NM_004321.7(KIF1A): c.2655G> C (p.Val885=) single nucleotide variant Conflicting interpretations of pathogenicity rs186881889 GRCh37 Chromosome 2, 241689865: 241689865
25 KIF1A NM_004321.7(KIF1A): c.2595C> G (p.Pro865=) single nucleotide variant Conflicting interpretations of pathogenicity rs140783695 GRCh38 Chromosome 2, 240750508: 240750508
26 KIF1A NM_004321.7(KIF1A): c.2595C> G (p.Pro865=) single nucleotide variant Conflicting interpretations of pathogenicity rs140783695 GRCh37 Chromosome 2, 241689925: 241689925
27 KIF1A NM_004321.7(KIF1A): c.2448C> T (p.Tyr816=) single nucleotide variant Conflicting interpretations of pathogenicity rs199996308 GRCh38 Chromosome 2, 240758467: 240758467
28 KIF1A NM_004321.7(KIF1A): c.2448C> T (p.Tyr816=) single nucleotide variant Conflicting interpretations of pathogenicity rs199996308 GRCh37 Chromosome 2, 241697884: 241697884
29 KIF1A NM_004321.7(KIF1A): c.883-3C> T single nucleotide variant Uncertain significance rs111507743 GRCh38 Chromosome 2, 240775929: 240775929
30 KIF1A NM_004321.7(KIF1A): c.883-3C> T single nucleotide variant Uncertain significance rs111507743 GRCh37 Chromosome 2, 241715346: 241715346
31 KIF1A NM_004321.7(KIF1A): c.849C> T (p.Ser283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187442951 GRCh38 Chromosome 2, 240783059: 240783059
32 KIF1A NM_004321.7(KIF1A): c.849C> T (p.Ser283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187442951 GRCh37 Chromosome 2, 241722476: 241722476
33 KIF1A NM_004321.7(KIF1A): c.609-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs775915390 GRCh38 Chromosome 2, 240785108: 240785108
34 KIF1A NM_004321.7(KIF1A): c.609-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs775915390 GRCh37 Chromosome 2, 241724525: 241724525
35 KIF1A NM_004321.7(KIF1A): c.3191T> C (p.Ile1064Thr) single nucleotide variant Uncertain significance rs35698242 GRCh37 Chromosome 2, 241683449: 241683449
36 KIF1A NM_004321.7(KIF1A): c.3191T> C (p.Ile1064Thr) single nucleotide variant Uncertain significance rs35698242 GRCh38 Chromosome 2, 240744032: 240744032
37 KIF1A NM_004321.7(KIF1A): c.1829C> T (p.Ala610Val) single nucleotide variant Uncertain significance rs765812659 GRCh37 Chromosome 2, 241702676: 241702676
38 KIF1A NM_004321.7(KIF1A): c.1829C> T (p.Ala610Val) single nucleotide variant Uncertain significance rs765812659 GRCh38 Chromosome 2, 240763259: 240763259
39 KIF1A NM_004321.7(KIF1A): c.4405C> T (p.His1469Tyr) single nucleotide variant Uncertain significance rs528171871 GRCh38 Chromosome 2, 240721842: 240721842
40 KIF1A NM_004321.7(KIF1A): c.4405C> T (p.His1469Tyr) single nucleotide variant Uncertain significance rs528171871 GRCh37 Chromosome 2, 241661259: 241661259
41 KIF1A NM_004321.7(KIF1A): c.4208C> T (p.Thr1403Ile) single nucleotide variant Uncertain significance rs371831198 GRCh38 Chromosome 2, 240722610: 240722610
42 KIF1A NM_004321.7(KIF1A): c.4208C> T (p.Thr1403Ile) single nucleotide variant Uncertain significance rs371831198 GRCh37 Chromosome 2, 241662027: 241662027
43 KIF1A NM_004321.7(KIF1A): c.2782G> A (p.Val928Met) single nucleotide variant Conflicting interpretations of pathogenicity rs183359489 GRCh38 Chromosome 2, 240746156: 240746156
44 KIF1A NM_004321.7(KIF1A): c.2782G> A (p.Val928Met) single nucleotide variant Conflicting interpretations of pathogenicity rs183359489 GRCh37 Chromosome 2, 241685573: 241685573
45 KIF1A NM_004321.7(KIF1A): c.1636G> A (p.Asp546Asn) single nucleotide variant Uncertain significance rs375972461 GRCh38 Chromosome 2, 240766936: 240766936
46 KIF1A NM_004321.7(KIF1A): c.1636G> A (p.Asp546Asn) single nucleotide variant Uncertain significance rs375972461 GRCh37 Chromosome 2, 241706353: 241706353
47 KIF1A NM_004321.7(KIF1A): c.4865C> T (p.Ala1622Val) single nucleotide variant Uncertain significance rs199804623 GRCh37 Chromosome 2, 241658469: 241658469
48 KIF1A NM_004321.7(KIF1A): c.4865C> T (p.Ala1622Val) single nucleotide variant Uncertain significance rs199804623 GRCh38 Chromosome 2, 240719052: 240719052
49 KIF1A NM_004321.7(KIF1A): c.3027G> A (p.Ala1009=) single nucleotide variant Conflicting interpretations of pathogenicity rs200149062 GRCh37 Chromosome 2, 241685199: 241685199
50 KIF1A NM_004321.7(KIF1A): c.3027G> A (p.Ala1009=) single nucleotide variant Conflicting interpretations of pathogenicity rs200149062 GRCh38 Chromosome 2, 240745782: 240745782

Expression for Neuropathy, Hereditary Sensory, Type Iic

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GO Terms for Neuropathy, Hereditary Sensory, Type Iic

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