Autosomal recessive spastic paraplegia type 21

General Information (adopted from Orphanet):

Synonyms, Signs: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
SPG21
Mast syndrome
Number of Symptoms 17
OrphanetNr: 101001
OMIM Id: 248900
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0001347) Hyperreflexia 363 / 7739
2
(HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
3
(HPO:0003487) Babinski sign 179 / 7739
4
(HPO:0009830) Peripheral neuropathy rare [HPO:skoehler] 206 / 7739
5
(HPO:0002186) Apraxia rare [HPO:skoehler] 22 / 7739
6
(HPO:0001258) Spastic paraplegia 97 / 7739
7
(HPO:0001260) Dysarthria rare [HPO:skoehler] 329 / 7739
8
(HPO:0002476) Primitive reflex rare [HPO:skoehler] 9 / 7739
9
(HPO:0002015) Dysphagia rare [HPO:skoehler] 301 / 7739
10
(HPO:0002313) Spastic paraparesis 33 / 7739
11
(HPO:0000726) Dementia 131 / 7739
12
(HPO:0012672) Akinetic mutism rare [HPO:skoehler] 1 / 7739
13
(HPO:0001288) Gait disturbance 318 / 7739
14
(HPO:0007340) Lower limb muscle weakness 61 / 7739
15
(OMIM) Basal ganglion manifestations 1 / 7739
16
(MedDRA:10036631) Presenile dementia 2 / 7739
17
(HPO:0001317) Abnormality of the cerebellum rare [HPO:skoehler] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome. Onset in the late teens or twenties and slow progression with development of ...
Molecular genetics OMIM By linkage analysis in the Amish pedigree with Mast syndrome originally described by Cross and McKusick (1967), Simpson et al. (2003) mapped the Mast syndrome locus to a small interval of 15q22.31 encompassing 3 genes. Sequence analysis of ...