HSAN2B
MCID: NRP018
MIFTS: 27

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

Categories: Bone diseases, 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 57 13 72
Hereditary Sensory and Autonomic Neuropathy Type Iib 12 74 29 6
Hsan2b 57 12 74
Hereditary Sensory and Autonomic Neuropathy Type 2b 12 15
Neuropathy, Sensory and Autonomic, Hereditary, Type Iib 40
Neuropathy, Hereditary Sensory and Autonomic, 2b 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first or second decade


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070150
MeSH 44 D009477
MedGen 42 C2751092
UMLS 72 C2751092

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

UniProtKB/Swiss-Prot : 74 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 spasticity and areflexia

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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 areflexia 32 HP:0001284
3 osteomyelitis 32 HP:0002754
4 hyporeflexia 32 HP:0001265
5 urinary incontinence 32 HP:0000020
6 peripheral axonal neuropathy 32 HP:0003477
7 episodic hyperhidrosis 32 HP:0001069
8 autoamputation of digits 32 HP:0007460
9 osteolytic defects of the phalanges of the hand 32 HP:0009771
10 acral ulceration 32 HP:0006121

Symptoms via clinical synopsis from OMIM:

57
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
Genitourinary Bladder:
urinary incontinence

Skeletal Feet:
acroosteolysis
acral ulceration leading to autoamputation of digits

Head And Neck Eyes:
impaired pupillary response to light

Skeletal:
osteomyelitis

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 29 RETREG1

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

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

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

# Title Authors PMID Year
1
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. 8 71
24327336 2014
2
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 8 71
19838196 2009
3
Hereditary Sensory and Autonomic Neuropathy Type II 38 71
21089229 2010

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 60)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RETREG1 NM_001034850.2(RETREG1): c.926C> G (p.Ser309Ter) single nucleotide variant Pathogenic rs137852739 5:16477845-16477845 5:16477736-16477736
2 RETREG1 FAM134B, 2-BP DEL, 17CT deletion Pathogenic
3 RETREG1 NM_001034850.2(RETREG1): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs137852737 5:16565897-16565897 5:16565788-16565788
4 RETREG1 FAM134B, IVS7DS, T-C, +2 single nucleotide variant Pathogenic
5 RETREG1 NM_001034850.2(RETREG1): c.826del (p.Ser276fs) deletion Conflicting interpretations of pathogenicity rs886037748 5:16478190-16478190 5:16478081-16478081
6 RETREG1 NM_001034850.2(RETREG1): c.607G> A (p.Val203Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143878016 5:16481181-16481181 5:16481072-16481072
7 RETREG1 NM_001034850.2(RETREG1): c.6G> C (p.Ala2=) single nucleotide variant Conflicting interpretations of pathogenicity rs750740230 5:16617075-16617075 5:16616966-16616966
8 RETREG1 NM_001034850.2(RETREG1): c.1089T> C (p.Asp363=) single nucleotide variant Conflicting interpretations of pathogenicity rs200156015 5:16475255-16475255 5:16475146-16475146
9 RETREG1 NM_001034850.2(RETREG1): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance rs886060395 5:16475331-16475331 5:16475222-16475222
10 RETREG1 NM_001034850.2(RETREG1): c.691C> T (p.Pro231Ser) single nucleotide variant Uncertain significance 5:16479076-16479076 5:16478967-16478967
11 RETREG1 NM_001034850.2(RETREG1): c.687G> T (p.Leu229Phe) single nucleotide variant Uncertain significance 5:16479080-16479080 5:16478971-16478971
12 RETREG1 NM_001034850.2(RETREG1): c.1009C> T (p.Arg337Ter) single nucleotide variant Uncertain significance 5:16475335-16475335 5:16475226-16475226
13 RETREG1 NM_001034850.2(RETREG1): c.841A> G (p.Ser281Gly) single nucleotide variant Uncertain significance 5:16478175-16478175 5:16478066-16478066
14 RETREG1 NM_001034850.2(RETREG1): c.1490A> G (p.His497Arg) single nucleotide variant Uncertain significance 5:16474854-16474854 5:16474745-16474745
15 RETREG1 NM_001034850.2(RETREG1): c.1169C> T (p.Thr390Met) single nucleotide variant Uncertain significance 5:16475175-16475175 5:16475066-16475066
16 RETREG1 NM_001034850.2(RETREG1): c.850G> T (p.Asp284Tyr) single nucleotide variant Uncertain significance 5:16478166-16478166 5:16478057-16478057
17 RETREG1 NM_001034850.2(RETREG1): c.68C> T (p.Ala23Val) single nucleotide variant Uncertain significance 5:16617013-16617013 5:16616904-16616904
18 RETREG1 NM_001034850.2(RETREG1): c.743C> T (p.Ser248Leu) single nucleotide variant Uncertain significance 5:16479024-16479024 5:16478915-16478915
19 RETREG1 NM_001034850.2(RETREG1): c.691C> G (p.Pro231Ala) single nucleotide variant Uncertain significance 5:16479076-16479076 5:16478967-16478967
20 RETREG1 NM_001034850.2(RETREG1): c.614C> T (p.Thr205Ile) single nucleotide variant Uncertain significance 5:16481174-16481174 5:16481065-16481065
21 RETREG1 NM_001034850.2(RETREG1): c.428G> A (p.Gly143Asp) single nucleotide variant Uncertain significance 5:16565902-16565902 5:16565793-16565793
22 RETREG1 NM_001034850.2(RETREG1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance 5:16572168-16572168 5:16572059-16572059
23 RETREG1 NM_001034850.2(RETREG1): c.208T> A (p.Trp70Arg) single nucleotide variant Uncertain significance 5:16616873-16616873 5:16616764-16616764
24 RETREG1 NM_001034850.2(RETREG1): c.23A> G (p.Glu8Gly) single nucleotide variant Uncertain significance 5:16617058-16617058 5:16616949-16616949
25 RETREG1 NM_001034850.2(RETREG1): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs200871433 5:16572152-16572152 5:16572043-16572043
26 RETREG1 duplication Uncertain significance
27 RETREG1 NM_001034850.2(RETREG1): c.1426C> G (p.Gln476Glu) single nucleotide variant Uncertain significance rs761585250 5:16474918-16474918 5:16474809-16474809
28 RETREG1 NM_001034850.2(RETREG1): c.1418C> G (p.Thr473Arg) single nucleotide variant Uncertain significance rs1186811814 5:16474926-16474926 5:16474817-16474817
29 RETREG1 NM_001034850.2(RETREG1): c.466G> T (p.Val156Phe) single nucleotide variant Uncertain significance rs758377163 5:16483574-16483574 5:16483465-16483465
30 RETREG1 NM_001034850.2(RETREG1): c.19C> G (p.Pro7Ala) single nucleotide variant Uncertain significance rs532140281 5:16617062-16617062 5:16616953-16616953
31 RETREG1 NM_001034850.2(RETREG1): c.232T> C (p.Trp78Arg) single nucleotide variant Uncertain significance rs746283428 5:16616849-16616849 5:16616740-16616740
32 RETREG1 NC_000005.9: g.(?_16616741)_(16617100_?)dup duplication Uncertain significance 5:16616741-16617100 5:16616632-16616991
33 RETREG1 NM_001034850.2(RETREG1): c.1415T> C (p.Leu472Pro) single nucleotide variant Uncertain significance rs1554014580 5:16474929-16474929 5:16474820-16474820
34 RETREG1 NM_001034850.2(RETREG1): c.555G> A (p.Met185Ile) single nucleotide variant Uncertain significance rs780286920 5:16483485-16483485 5:16483376-16483376
35 RETREG1 NM_001034850.2(RETREG1): c.379C> G (p.Arg127Gly) single nucleotide variant Uncertain significance rs78314670 5:16572153-16572153 5:16572044-16572044
36 RETREG1 NM_001034850.2(RETREG1): c.285C> G (p.Ser95Arg) single nucleotide variant Uncertain significance rs1554026716 5:16616796-16616796 5:16616687-16616687
37 RETREG1 NM_001034850.2(RETREG1): c.210G> T (p.Trp70Cys) single nucleotide variant Uncertain significance rs1554026745 5:16616871-16616871 5:16616762-16616762
38 RETREG1 NM_001034850.2(RETREG1): c.964T> C (p.Ser322Pro) single nucleotide variant Uncertain significance rs1554014877 5:16477807-16477807 5:16477698-16477698
39 RETREG1 NM_001034850.2(RETREG1): c.457A> G (p.Ser153Gly) single nucleotide variant Uncertain significance rs1554022467 5:16565873-16565873 5:16565764-16565764
40 RETREG1 NM_001034850.2(RETREG1): c.86C> T (p.Pro29Leu) single nucleotide variant Uncertain significance rs528532732 5:16616995-16616995 5:16616886-16616886
41 RETREG1 NM_001034850.2(RETREG1): c.953C> T (p.Thr318Ile) single nucleotide variant Uncertain significance rs368457852 5:16477818-16477818 5:16477709-16477709
42 RETREG1 NM_001034850.2(RETREG1): c.1378C> G (p.Gln460Glu) single nucleotide variant Uncertain significance rs1554014585 5:16474966-16474966 5:16474857-16474857
43 RETREG1 NM_001034850.2(RETREG1): c.1207G> A (p.Asp403Asn) single nucleotide variant Uncertain significance rs753136289 5:16475137-16475137 5:16475028-16475028
44 RETREG1 NM_001034850.2(RETREG1): c.1219C> T (p.His407Tyr) single nucleotide variant Uncertain significance rs1554014624 5:16475125-16475125 5:16475016-16475016
45 RETREG1 NM_001034850.2(RETREG1): c.999T> A (p.Asp333Glu) single nucleotide variant Uncertain significance rs771586180 5:16477772-16477772 5:16477663-16477663
46 RETREG1 NM_001034850.2(RETREG1): c.509G> C (p.Cys170Ser) single nucleotide variant Uncertain significance rs779070741 5:16483531-16483531 5:16483422-16483422
47 RETREG1 NM_001034850.2(RETREG1): c.98C> A (p.Ser33Tyr) single nucleotide variant Uncertain significance rs1326167901 5:16616983-16616983 5:16616874-16616874
48 RETREG1 NM_001034850.2(RETREG1): c.18T> G (p.Pro6=) single nucleotide variant Likely benign rs773314283 5:16617063-16617063 5:16616954-16616954
49 RETREG1 NM_001034850.2(RETREG1): c.207C> G (p.Thr69=) single nucleotide variant Likely benign rs761759311 5:16616874-16616874 5:16616765-16616765
50 RETREG1 NM_001034850.2(RETREG1): c.1026T> C (p.Val342=) single nucleotide variant Likely benign rs765642043 5:16475318-16475318 5:16475209-16475209

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Iib

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

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