MCID: NRP018
MIFTS: 23

Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Skin diseases, Gastrointestinal diseases, Metabolic diseases, Ear diseases, Mental diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Iib:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Iib 57 13 73
Hereditary Sensory and Autonomic Neuropathy Type Iib 12 75 29 6
Hsan2b 57 12 75
Neuropathy, Sensory and Autonomic, Hereditary, Type Iib 40
Hereditary Sensory and Autonomic Neuropathy Type 2b 12
Neuropathy, Hereditary Sensory and Autonomic, 2b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first or second decade


HPO:

32
neuropathy, hereditary sensory and autonomic, type iib:
Onset and clinical course juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

UniProtKB/Swiss-Prot : 75 Neuropathy, hereditary sensory and autonomic, 2B: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Iib, also known as hereditary sensory and autonomic neuropathy type iib, is related to neuropathy, hereditary sensory and autonomic, type iia. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iib is RETREG1 (Reticulophagy Regulator 1). Related phenotypes are urinary incontinence and episodic hyperhidrosis

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has material basis in homozygous mutation in the FAM134B gene on chromosome 5p15.

OMIM : 57 Hereditary sensory and autonomic neuropathy type IIB is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by Ilgaz Aydinlar et al., 2014). HSAN2A (201300) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see 605232). For a discussion of genetic heterogeneity of HSAN, see HSAN1 (162400). (613115)

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteomyelitis

Genitourinary Bladder:
urinary incontinence

Skeletal Feet:
acroosteolysis
acral ulceration leading to autoamputation of digits

Head And Neck Eyes:
impaired pupillary response to light

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
axonal neuropathy
impaired sensation in distal extremities, particularly pain and temperature (lower limbs more affected than upper limbs)
spasticity (2 families)
more
Skeletal Hands:
acroosteolysis
acral ulceration leading to autoamputation of digits

Skin Nails Hair Skin:
hyperhidrosis, episodic
ulcerations of distal extremities

Muscle Soft Tissue:
muscle weakness, distal and proximal, lower limbs (1 family)


Clinical features from OMIM:

613115

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iib:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 urinary incontinence 32 HP:0000020
2 episodic hyperhidrosis 32 HP:0001069
3 spasticity 32 HP:0001257
4 hyporeflexia 32 HP:0001265
5 areflexia 32 HP:0001284
6 osteomyelitis 32 HP:0002754
7 peripheral axonal neuropathy 32 HP:0003477
8 acral ulceration leading to autoamputation of digits 32 HP:0006121
9 osteolytic defects of the phalanges of the hand 32 HP:0009771

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type Iib:

# Genetic test Affiliating Genes
1 Hereditary Sensory and Autonomic Neuropathy Type Iib 29 RETREG1

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iib:

6
(show top 50) (show all 81)
# Gene Variation Type Significance SNP ID Assembly Location
1 RETREG1 NM_001034850.2(RETREG1): c.926C> G (p.Ser309Ter) single nucleotide variant Pathogenic rs137852739 GRCh37 Chromosome 5, 16477845: 16477845
2 RETREG1 NM_001034850.2(RETREG1): c.926C> G (p.Ser309Ter) single nucleotide variant Pathogenic rs137852739 GRCh38 Chromosome 5, 16477736: 16477736
3 RETREG1 FAM134B, 2-BP DEL, 17CT deletion Pathogenic
4 RETREG1 NM_001034850.2(RETREG1): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs137852737 GRCh37 Chromosome 5, 16565897: 16565897
5 RETREG1 NM_001034850.2(RETREG1): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs137852737 GRCh38 Chromosome 5, 16565788: 16565788
6 RETREG1 FAM134B, IVS7DS, T-C, +2 single nucleotide variant Pathogenic
7 RETREG1 NM_001034850.2(RETREG1): c.826delA (p.Ser276Valfs) deletion Pathogenic rs886037748 GRCh38 Chromosome 5, 16478081: 16478081
8 RETREG1 NM_001034850.2(RETREG1): c.826delA (p.Ser276Valfs) deletion Pathogenic rs886037748 GRCh37 Chromosome 5, 16478190: 16478190
9 RETREG1 NM_001034850.2(RETREG1): c.607G> A (p.Val203Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143878016 GRCh38 Chromosome 5, 16481072: 16481072
10 RETREG1 NM_001034850.2(RETREG1): c.607G> A (p.Val203Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143878016 GRCh37 Chromosome 5, 16481181: 16481181
11 RETREG1 NM_001034850.2(RETREG1): c.816C> T (p.Asp272=) single nucleotide variant Benign rs162848 GRCh37 Chromosome 5, 16478200: 16478200
12 RETREG1 NM_001034850.2(RETREG1): c.816C> T (p.Asp272=) single nucleotide variant Benign rs162848 GRCh38 Chromosome 5, 16478091: 16478091
13 RETREG1 NM_001034850.2(RETREG1): c.438G> A (p.Leu146=) single nucleotide variant Benign/Likely benign rs61741225 GRCh38 Chromosome 5, 16565783: 16565783
14 RETREG1 NM_001034850.2(RETREG1): c.438G> A (p.Leu146=) single nucleotide variant Benign/Likely benign rs61741225 GRCh37 Chromosome 5, 16565892: 16565892
15 RETREG1 NM_001034850.2(RETREG1): c.6G> C (p.Ala2=) single nucleotide variant Conflicting interpretations of pathogenicity rs750740230 GRCh38 Chromosome 5, 16616966: 16616966
16 RETREG1 NM_001034850.2(RETREG1): c.6G> C (p.Ala2=) single nucleotide variant Conflicting interpretations of pathogenicity rs750740230 GRCh37 Chromosome 5, 16617075: 16617075
17 RETREG1 NM_001034850.2(RETREG1): c.1089T> C (p.Asp363=) single nucleotide variant Conflicting interpretations of pathogenicity rs200156015 GRCh37 Chromosome 5, 16475255: 16475255
18 RETREG1 NM_001034850.2(RETREG1): c.1089T> C (p.Asp363=) single nucleotide variant Conflicting interpretations of pathogenicity rs200156015 GRCh38 Chromosome 5, 16475146: 16475146
19 RETREG1 NM_001034850.2(RETREG1): c.459-25093T> C single nucleotide variant Benign rs332811 GRCh37 Chromosome 5, 16508674: 16508674
20 RETREG1 NM_001034850.2(RETREG1): c.459-25093T> C single nucleotide variant Benign rs332811 GRCh38 Chromosome 5, 16508565: 16508565
21 RETREG1 NM_001034850.2(RETREG1): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs200871433 GRCh37 Chromosome 5, 16572152: 16572152
22 RETREG1 NM_001034850.2(RETREG1): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs200871433 GRCh38 Chromosome 5, 16572043: 16572043
23 RETREG1 NM_001034850.2(RETREG1): c.379C> T (p.Arg127Cys) single nucleotide variant Benign rs78314670 GRCh37 Chromosome 5, 16572153: 16572153
24 RETREG1 NM_001034850.2(RETREG1): c.379C> T (p.Arg127Cys) single nucleotide variant Benign rs78314670 GRCh38 Chromosome 5, 16572044: 16572044
25 RETREG1 NC_000005.10: g.(?_16474721)_(16481113_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 16474721: 16481113
26 RETREG1 NM_001034850.2(RETREG1): c.1110C> T (p.Pro370=) single nucleotide variant Likely benign rs373322680 GRCh38 Chromosome 5, 16475125: 16475125
27 RETREG1 NM_001034850.2(RETREG1): c.1110C> T (p.Pro370=) single nucleotide variant Likely benign rs373322680 GRCh37 Chromosome 5, 16475234: 16475234
28 RETREG1 NM_001034850.2(RETREG1): c.1426C> G (p.Gln476Glu) single nucleotide variant Uncertain significance rs761585250 GRCh37 Chromosome 5, 16474918: 16474918
29 RETREG1 NM_001034850.2(RETREG1): c.1426C> G (p.Gln476Glu) single nucleotide variant Uncertain significance rs761585250 GRCh38 Chromosome 5, 16474809: 16474809
30 RETREG1 NM_001034850.2(RETREG1): c.1418C> G (p.Thr473Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 16474926: 16474926
31 RETREG1 NM_001034850.2(RETREG1): c.1418C> G (p.Thr473Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 16474817: 16474817
32 RETREG1 NM_001034850.2(RETREG1): c.466G> T (p.Val156Phe) single nucleotide variant Uncertain significance rs758377163 GRCh37 Chromosome 5, 16483574: 16483574
33 RETREG1 NM_001034850.2(RETREG1): c.466G> T (p.Val156Phe) single nucleotide variant Uncertain significance rs758377163 GRCh38 Chromosome 5, 16483465: 16483465
34 RETREG1 NM_001034850.2(RETREG1): c.19C> G (p.Pro7Ala) single nucleotide variant Uncertain significance rs532140281 GRCh38 Chromosome 5, 16616953: 16616953
35 RETREG1 NM_001034850.2(RETREG1): c.19C> G (p.Pro7Ala) single nucleotide variant Uncertain significance rs532140281 GRCh37 Chromosome 5, 16617062: 16617062
36 RETREG1 NM_001034850.2(RETREG1): c.232T> C (p.Trp78Arg) single nucleotide variant Uncertain significance rs746283428 GRCh37 Chromosome 5, 16616849: 16616849
37 RETREG1 NM_001034850.2(RETREG1): c.232T> C (p.Trp78Arg) single nucleotide variant Uncertain significance rs746283428 GRCh38 Chromosome 5, 16616740: 16616740
38 RETREG1 NM_001034850.2(RETREG1): c.339A> G (p.Pro113=) single nucleotide variant Likely benign rs372182225 GRCh37 Chromosome 5, 16572193: 16572193
39 RETREG1 NM_001034850.2(RETREG1): c.339A> G (p.Pro113=) single nucleotide variant Likely benign rs372182225 GRCh38 Chromosome 5, 16572084: 16572084
40 RETREG1 NM_001034850.2(RETREG1): c.1000+20G> T single nucleotide variant Benign rs162850 GRCh38 Chromosome 5, 16477642: 16477642
41 RETREG1 NM_001034850.2(RETREG1): c.1000+20G> T single nucleotide variant Benign rs162850 GRCh37 Chromosome 5, 16477751: 16477751
42 RETREG1 NC_000005.10: g.(?_16616632)_(16616991_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 16616632: 16616991
43 RETREG1 NC_000005.10: g.(?_16616632)_(16616991_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 16616741: 16617100
44 RETREG1 NM_001034850.2(RETREG1): c.1415T> C (p.Leu472Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 16474929: 16474929
45 RETREG1 NM_001034850.2(RETREG1): c.1415T> C (p.Leu472Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 16474820: 16474820
46 RETREG1 NM_001034850.2(RETREG1): c.555G> A (p.Met185Ile) single nucleotide variant Uncertain significance rs780286920 GRCh37 Chromosome 5, 16483485: 16483485
47 RETREG1 NM_001034850.2(RETREG1): c.555G> A (p.Met185Ile) single nucleotide variant Uncertain significance rs780286920 GRCh38 Chromosome 5, 16483376: 16483376
48 RETREG1 NM_001034850.2(RETREG1): c.379C> G (p.Arg127Gly) single nucleotide variant Uncertain significance rs78314670 GRCh38 Chromosome 5, 16572044: 16572044
49 RETREG1 NM_001034850.2(RETREG1): c.379C> G (p.Arg127Gly) single nucleotide variant Uncertain significance rs78314670 GRCh37 Chromosome 5, 16572153: 16572153
50 RETREG1 NM_001034850.2(RETREG1): c.285C> G (p.Ser95Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 16616687: 16616687

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

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Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

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