Autosomal recessive spastic paraplegia type 30

General Information (adopted from Orphanet):

Synonyms, Signs: SPG30
Number of Symptoms 22
OrphanetNr: 101010
OMIM Id: 610357
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Pure or complex autosomal recessive spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002839) Urinary bladder sphincter dysfunction 34 / 7739
2
(HPO:0001310) Dysmetria frequent [HPO:skoehler] 76 / 7739
3
(HPO:0011448) Ankle clonus 31 / 7739
4
(HPO:0002064) Spastic gait 46 / 7739
5
(HPO:0001347) Hyperreflexia 363 / 7739
6
(HPO:0001258) Spastic paraplegia 97 / 7739
7
(HPO:0003487) Babinski sign 179 / 7739
8
(HPO:0003477) Peripheral axonal neuropathy common [HPO:skoehler] 62 / 7739
9
(HPO:0001251) Ataxia 413 / 7739
10
(HPO:0002061) Lower limb spasticity 56 / 7739
11
(HPO:0007340) Lower limb muscle weakness common [HPO:skoehler] 61 / 7739
12
(HPO:0001324) Muscle weakness 859 / 7739
13
(HPO:0001252) Muscular hypotonia 990 / 7739
14
(HPO:0007210) Lower limb amyotrophy common [HPO:skoehler] 7 / 7739
15
(OMIM) Cerebellar signs, mild (in 1 of 3 families) 1 / 7739
16
(OMIM) Cerebellar atrophy, mild 4 / 7739
17
(OMIM) Peripheral sensory loss, distal, mild (in 2 of 3 families) 1 / 7739
18
(HPO:0001272) Cerebellar atrophy 197 / 7739
19
(HPO:0003677) Slow progression 134 / 7739
20
(OMIM) Lower limb muscle atrophy 4 / 7739
21
(OMIM) Saccadic ocular pursuit (in 1 of 3 families) 1 / 7739
22
(OMIM) Sphincter disturbances, mild (in 1 of 3 families) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Mildly impaired sensation and cerebellar involvement has been ...
Clinical Description OMIM Klebe et al. (2006) reported a consanguineous family of Algerian origin in which 4 sibs had hereditary spastic paraplegia. Mean age at onset of stiff legs and unsteady spastic gait was 17.5 years (range 12 to 21). Other ...
Molecular genetics OMIM By homozygosity mapping, exome sequencing, and examination of candidate genes, Erlich et al. (2011) identified a homozygous mutation in the KIF1A gene (A255V; 601255.0001) in 3 Palestinian sibs with pure hereditary spastic paraplegia.

Klebe et al. ...