HSAN2B
MCID: NRP018
MIFTS: 26

Neuropathy, Hereditary Sensory and Autonomic, Type Iib (HSAN2B)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 58 13 74
Hereditary Sensory and Autonomic Neuropathy Type Iib 12 76 30 6
Hsan2b 58 12 76
Hereditary Sensory and Autonomic Neuropathy Type 2b 12 15
Neuropathy, Sensory and Autonomic, Hereditary, Type Iib 41
Neuropathy, Hereditary Sensory and Autonomic, 2b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first or second decade


HPO:

33
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 : 76 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). Affiliated tissues include skin and eye, and related phenotypes are spasticity and osteomyelitis

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 : 58 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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 osteomyelitis 33 HP:0002754
3 areflexia 33 HP:0001284
4 hyporeflexia 33 HP:0001265
5 urinary incontinence 33 HP:0000020
6 peripheral axonal neuropathy 33 HP:0003477
7 episodic hyperhidrosis 33 HP:0001069
8 autoamputation of digits 33 HP:0007460
9 osteolytic defects of the phalanges of the hand 33 HP:0009771
10 acral ulceration 33 HP:0006121

Symptoms via clinical synopsis from OMIM:

58
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

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 30 RETREG1

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

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Iib:

42
Skin, Eye

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Iib:

# Title Authors Year
1
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. ( 24327336 )
2014
2
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. ( 19838196 )
2009

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 113)
# 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.1135C> G (p.Gln379Glu) single nucleotide variant Benign/Likely benign rs34432513 GRCh37 Chromosome 5, 16475209: 16475209
8 RETREG1 NM_001034850.2(RETREG1): c.1135C> G (p.Gln379Glu) single nucleotide variant Benign/Likely benign rs34432513 GRCh38 Chromosome 5, 16475100: 16475100
9 RETREG1 NM_001034850.2(RETREG1): c.1145G> C (p.Ser382Thr) single nucleotide variant Benign/Likely benign rs61733811 GRCh37 Chromosome 5, 16475199: 16475199
10 RETREG1 NM_001034850.2(RETREG1): c.1145G> C (p.Ser382Thr) single nucleotide variant Benign/Likely benign rs61733811 GRCh38 Chromosome 5, 16475090: 16475090
11 RETREG1 NM_001034850.2(RETREG1): c.603T> C (p.Cys201=) single nucleotide variant Benign rs16868675 GRCh38 Chromosome 5, 16481076: 16481076
12 RETREG1 NM_001034850.2(RETREG1): c.603T> C (p.Cys201=) single nucleotide variant Benign rs16868675 GRCh37 Chromosome 5, 16481185: 16481185
13 RETREG1 NM_001034850.2(RETREG1): c.826delA (p.Ser276Valfs) deletion Pathogenic rs886037748 GRCh38 Chromosome 5, 16478081: 16478081
14 RETREG1 NM_001034850.2(RETREG1): c.826delA (p.Ser276Valfs) deletion Pathogenic rs886037748 GRCh37 Chromosome 5, 16478190: 16478190
15 RETREG1 NM_001034850.2(RETREG1): c.607G> A (p.Val203Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143878016 GRCh38 Chromosome 5, 16481072: 16481072
16 RETREG1 NM_001034850.2(RETREG1): c.607G> A (p.Val203Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143878016 GRCh37 Chromosome 5, 16481181: 16481181
17 RETREG1 NM_001034850.2(RETREG1): c.816C> T (p.Asp272=) single nucleotide variant Benign rs162848 GRCh38 Chromosome 5, 16478091: 16478091
18 RETREG1 NM_001034850.2(RETREG1): c.816C> T (p.Asp272=) single nucleotide variant Benign rs162848 GRCh37 Chromosome 5, 16478200: 16478200
19 RETREG1 NM_001034850.2(RETREG1): c.438G> A (p.Leu146=) single nucleotide variant Benign/Likely benign rs61741225 GRCh38 Chromosome 5, 16565783: 16565783
20 RETREG1 NM_001034850.2(RETREG1): c.438G> A (p.Leu146=) single nucleotide variant Benign/Likely benign rs61741225 GRCh37 Chromosome 5, 16565892: 16565892
21 RETREG1 NM_001034850.2(RETREG1): c.6G> C (p.Ala2=) single nucleotide variant Conflicting interpretations of pathogenicity rs750740230 GRCh38 Chromosome 5, 16616966: 16616966
22 RETREG1 NM_001034850.2(RETREG1): c.6G> C (p.Ala2=) single nucleotide variant Conflicting interpretations of pathogenicity rs750740230 GRCh37 Chromosome 5, 16617075: 16617075
23 RETREG1 NM_001034850.2(RETREG1): c.1089T> C (p.Asp363=) single nucleotide variant Conflicting interpretations of pathogenicity rs200156015 GRCh38 Chromosome 5, 16475146: 16475146
24 RETREG1 NM_001034850.2(RETREG1): c.1089T> C (p.Asp363=) single nucleotide variant Conflicting interpretations of pathogenicity rs200156015 GRCh37 Chromosome 5, 16475255: 16475255
25 RETREG1 NM_001034850.2(RETREG1): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance rs886060395 GRCh38 Chromosome 5, 16475222: 16475222
26 RETREG1 NM_001034850.2(RETREG1): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance rs886060395 GRCh37 Chromosome 5, 16475331: 16475331
27 RETREG1 NM_001034850.2(RETREG1): c.22G> A (p.Glu8Lys) single nucleotide variant Uncertain significance rs759050645 GRCh38 Chromosome 5, 16616950: 16616950
28 RETREG1 NM_001034850.2(RETREG1): c.22G> A (p.Glu8Lys) single nucleotide variant Uncertain significance rs759050645 GRCh37 Chromosome 5, 16617059: 16617059
29 RETREG1 NM_001034850.2(RETREG1): c.459-25093T> C single nucleotide variant Benign rs332811 GRCh38 Chromosome 5, 16508565: 16508565
30 RETREG1 NM_001034850.2(RETREG1): c.459-25093T> C single nucleotide variant Benign rs332811 GRCh37 Chromosome 5, 16508674: 16508674
31 RETREG1 NM_001034850.2(RETREG1): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs200871433 GRCh37 Chromosome 5, 16572152: 16572152
32 RETREG1 NM_001034850.2(RETREG1): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs200871433 GRCh38 Chromosome 5, 16572043: 16572043
33 RETREG1 NM_001034850.2(RETREG1): c.379C> T (p.Arg127Cys) single nucleotide variant Benign rs78314670 GRCh37 Chromosome 5, 16572153: 16572153
34 RETREG1 NM_001034850.2(RETREG1): c.379C> T (p.Arg127Cys) single nucleotide variant Benign rs78314670 GRCh38 Chromosome 5, 16572044: 16572044
35 RETREG1 NM_001034850.2(RETREG1): c.1453_1455delAAG (p.Lys485del) deletion Uncertain significance rs758081460 GRCh37 Chromosome 5, 16474889: 16474891
36 RETREG1 NM_001034850.2(RETREG1): c.1453_1455delAAG (p.Lys485del) deletion Uncertain significance rs758081460 GRCh38 Chromosome 5, 16474780: 16474782
37 RETREG1 NC_000005.10: g.(?_16474721)_(16481113_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 16474721: 16481113
38 RETREG1 NM_001034850.2(RETREG1): c.1110C> T (p.Pro370=) single nucleotide variant Likely benign rs373322680 GRCh38 Chromosome 5, 16475125: 16475125
39 RETREG1 NM_001034850.2(RETREG1): c.1110C> T (p.Pro370=) single nucleotide variant Likely benign rs373322680 GRCh37 Chromosome 5, 16475234: 16475234
40 RETREG1 NM_001034850.2(RETREG1): c.1426C> G (p.Gln476Glu) single nucleotide variant Uncertain significance rs761585250 GRCh37 Chromosome 5, 16474918: 16474918
41 RETREG1 NM_001034850.2(RETREG1): c.1426C> G (p.Gln476Glu) single nucleotide variant Uncertain significance rs761585250 GRCh38 Chromosome 5, 16474809: 16474809
42 RETREG1 NM_001034850.2(RETREG1): c.1418C> G (p.Thr473Arg) single nucleotide variant Uncertain significance rs1186811814 GRCh37 Chromosome 5, 16474926: 16474926
43 RETREG1 NM_001034850.2(RETREG1): c.1418C> G (p.Thr473Arg) single nucleotide variant Uncertain significance rs1186811814 GRCh38 Chromosome 5, 16474817: 16474817
44 RETREG1 NM_001034850.2(RETREG1): c.466G> T (p.Val156Phe) single nucleotide variant Uncertain significance rs758377163 GRCh37 Chromosome 5, 16483574: 16483574
45 RETREG1 NM_001034850.2(RETREG1): c.466G> T (p.Val156Phe) single nucleotide variant Uncertain significance rs758377163 GRCh38 Chromosome 5, 16483465: 16483465
46 RETREG1 NM_001034850.2(RETREG1): c.19C> G (p.Pro7Ala) single nucleotide variant Uncertain significance rs532140281 GRCh38 Chromosome 5, 16616953: 16616953
47 RETREG1 NM_001034850.2(RETREG1): c.19C> G (p.Pro7Ala) single nucleotide variant Uncertain significance rs532140281 GRCh37 Chromosome 5, 16617062: 16617062
48 RETREG1 NM_001034850.2(RETREG1): c.232T> C (p.Trp78Arg) single nucleotide variant Uncertain significance rs746283428 GRCh37 Chromosome 5, 16616849: 16616849
49 RETREG1 NM_001034850.2(RETREG1): c.232T> C (p.Trp78Arg) single nucleotide variant Uncertain significance rs746283428 GRCh38 Chromosome 5, 16616740: 16616740
50 RETREG1 NM_001034850.2(RETREG1): c.339A> G (p.Pro113=) single nucleotide variant Likely benign rs372182225 GRCh37 Chromosome 5, 16572193: 16572193

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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