Hereditary sensory and autonomic neuropathy with spastic paraplegia

General Information (adopted from Orphanet):

Synonyms, Signs: HSAN with spastic paraplegia
Number of Symptoms 36
OrphanetNr: 139578
OMIM Id: 256840
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: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0001258) Spastic paraplegia 97 / 7739
2
 (HPO:0002061) Lower limb spasticity 56 / 7739
3
 (HPO:0003487) Babinski sign 179 / 7739
4
 (HPO:0100716) Self-injurious behavior Very frequent [Orphanet] 43 / 7739
5
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
6
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
7
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
8
 (HPO:0006984) Distal sensory loss of all modalities 5 / 7739
9
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
10
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
11
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
12
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
13
 (HPO:0002270) Abnormality of the autonomic nervous system Very frequent [Orphanet] 22 / 7739
14
 (HPO:0002936) Distal sensory impairment 96 / 7739
15
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
16
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
17
 (HPO:0002169) Clonus 37 / 7739
18
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
19
 (HPO:0002064) Spastic gait 46 / 7739
20
 (HPO:0001226) Acral ulceration and osteomyelitis leading to autoamputation of digits 4 / 7739
21
 (HPO:0001760) Abnormality of the foot 96 / 7739
22
 (HPO:0002754) Osteomyelitis Occasional [Orphanet] 37 / 7739
23
 (HPO:0001155) Abnormality of the hand 54 / 7739
24
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
25
 (HPO:0003563) Hypobetalipoproteinemia 9 / 7739
26
 (HPO:0003146) Hypocholesterolemia 9 / 7739
27
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
28
 (HPO:0003693) Distal amyotrophy 118 / 7739
29
 (OMIM) Decreased plasma triglycerides 1 / 7739
30
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy, mild 1 / 7739
31
 (OMIM) Decreased plasma total cholesterol 1 / 7739
32
 (OMIM) Decreased plasma apolipoprotein B (APOB, 107730) 1 / 7739
33
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
34
 (OMIM) Distal ulceration and osteomyelitis leading to autoamputation 1 / 7739
35
 (HPO:0006827) Atrophy of the spinal cord 5 / 7739
36
 (OMIM) MRI shows atrophy of the spinal cord 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cavanagh et al. (1979) described a seemingly unique form of sensory neuropathy with mutilating ulcerations of the hands and feet similar to that described in entry 162400 except for the additional feature of spastic paraplegia. Three of the ...
Molecular genetics OMIM In 4 affected members of a Moroccan family reported by Bouhouche et al. (2006), Bouhouche et al. (2006) identified a homozygous mutation in the CCT5 gene (610150.0001).