Hereditary sensory and autonomic neuropathy type 6

General Information (adopted from Orphanet):

Synonyms, Signs: HSAN VI
HSAN6
Familial dysautonomia with contractures
Number of Symptoms 42
OrphanetNr: 314381
OMIM Id: 614653
ICD-10: G60.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive hereditary sensory and autonomic neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000331) Short chin rare [HPO:skoehler] 33 / 7739
2
 (HPO:0002705) High, narrow palate 308 / 7739
3
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
4
 (HPO:0000194) Open mouth 70 / 7739
5
 (HPO:0000522) Alacrima 14 / 7739
6
 (HPO:0000559) Corneal scarring 9 / 7739
7
 (HPO:0000369) Low-set ears rare [HPO:skoehler] 372 / 7739
8
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
9
 (HPO:0002459) Dysautonomia 34 / 7739
10
 (HPO:0002271) Autonomic dysregulation 11 / 7739
11
 (HPO:0001284) Areflexia 198 / 7739
12
 (HPO:0000763) Sensory neuropathy 78 / 7739
13
 (HPO:0002270) Abnormality of the autonomic nervous system 22 / 7739
14
 (HPO:0001188) Hand clenching 9 / 7739
15
 (HPO:0001762) Talipes equinovarus 309 / 7739
16
 (HPO:0003093) Limited hip extension 4 / 7739
17
 (HPO:0001371) Flexion contracture 220 / 7739
18
 (HPO:0011968) Feeding difficulties 240 / 7739
19
 (HPO:0001510) Growth delay 295 / 7739
20
 (HPO:0000975) Hyperhidrosis 64 / 7739
21
 (HPO:0007610) Blotching pigmentation of the skin 3 / 7739
22
 (HPO:0001662) Bradycardia 41 / 7739
23
 (HPO:0001649) Tachycardia 53 / 7739
24
 (HPO:0001945) Fever 218 / 7739
25
 (HPO:0001955) Unexplained fevers 7 / 7739
26
 (HPO:0002104) Apnea 106 / 7739
27
 (HPO:0002093) Respiratory insufficiency 410 / 7739
28
 (HPO:0001319) Neonatal hypotonia 101 / 7739
29
 (OMIM) Sweating, episodic 1 / 7739
30
 (OMIM) Absent axonal flare response after intradermal histamine injection 2 / 7739
31
 (OMIM) Persistently open mouth 1 / 7739
32
 (OMIM) Decreased or absent corneal reflexes 1 / 7739
33
 (OMIM) Decreased fungiform papillae on the tongue 1 / 7739
34
 (OMIM) Poor respiratory effort 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Erythematous blotching, episodic 1 / 7739
37
 (OMIM) Apnea, episodic 2 / 7739
38
 (OMIM) Paucity of facial expression 1 / 7739
39
 (OMIM) Decreased pain response 1 / 7739
40
 (OMIM) Autonomic symptoms 6 / 7739
41
 (OMIM) Lack of neurologic development 1 / 7739
42
 (MedDRA:10023533) Labile blood pressure 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal ...
Clinical Description OMIM Edvardson et al. (2012) reported a large consanguineous family of Ashkenazi Jewish descent in which 3 infants and 1 fetus had a severe form of sensory and autonomic neuropathy with joint contractures. All had neonatal hypotonia with poor ...
Molecular genetics OMIM By homozygosity mapping followed by whole-exome sequencing in an Ashkenazi Jewish family with hereditary sensory and autonomic neuropathy type VI, Edvardson et al. (2012) identified a homozygous truncating mutation in the DST gene (113810.0001).