Autosomal dominant spastic paraplegia type 42

General Information (adopted from Orphanet):

Synonyms, Signs: SPG42
Number of Symptoms 11
OrphanetNr: 171863
OMIM Id: 612539
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant pure spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002395) Lower limb hyperreflexia 26 / 7739
2
(HPO:0002064) Spastic gait 46 / 7739
3
(HPO:0003487) Babinski sign 179 / 7739
4
(HPO:0001258) Spastic paraplegia 97 / 7739
5
(HPO:0001761) Pes cavus 225 / 7739
6
(HPO:0007340) Lower limb muscle weakness 61 / 7739
7
(HPO:0001252) Muscular hypotonia 990 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
10
(OMIM) Increased muscle tone, lower limbs 1 / 7739
11
(OMIM) Lower limb muscle atrophy 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lin et al. (2008) reported a large Chinese family in which at least 20 individuals were diagnosed with autosomal dominant SPG. There was at least 1 case of incomplete penetrance in an obligate carrier. Age at onset varied ...
Molecular genetics OMIM In affected members of a Chinese family with SPG42, Lin et al. (2008) identified a heterozygous mutation in the SLC33A1 gene (603690.0001). The authors postulated haploinsufficiency as the disease mechanism.

Schlipf et al. (2010) did not ...