Autosomal recessive spastic paraplegia type 5A

General Information (adopted from Orphanet):

Synonyms, Signs: SPG5A
Number of Symptoms 25
OrphanetNr: 100986
OMIM Id: 270800
ICD-10: G11.4
UMLs: C2931356
MeSH: C536871
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

Comment:

Aliases:CBAS3, CP7B, SPG5A;

Symptom Information: Sort by abundance 

1
(HPO:0000648) Optic atrophy 24954637 IBIS 238 / 7739
2
(HPO:0007340) Lower limb muscle weakness 61 / 7739
3
(HPO:0006858) Impaired distal proprioception 4 / 7739
4
(HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
5
(HPO:0001251) Ataxia 24954637 IBIS 413 / 7739
6
(HPO:0003487) Babinski sign 179 / 7739
7
(HPO:0001347) Hyperreflexia 363 / 7739
8
(HPO:0002061) Lower limb spasticity 56 / 7739
9
(HPO:0001258) Spastic paraplegia 97 / 7739
10
(HPO:0002064) Spastic gait 46 / 7739
11
(HPO:0010550) Paraplegia 10 / 7739
12
(HPO:0001260) Dysarthria 329 / 7739
13
(HPO:0001822) Hallux valgus 70 / 7739
14
(HPO:0001765) Hammertoe 63 / 7739
15
(HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
16
(HPO:0001763) Pes planus 176 / 7739
17
(HPO:0001838) Rocker bottom foot 85 / 7739
18
(HPO:0000020) Urinary incontinence 75 / 7739
19
(HPO:0001317) Abnormality of the cerebellum rare [HPO:skoehler] 36 / 7739
20
(HPO:0002500) Abnormality of the cerebral white matter 24954637 IBIS 73 / 7739
21
(HPO:0003676) Progressive disorder 148 / 7739
22
(OMIM) Decreased proprioception in the lower limbs 2 / 7739
23
(OMIM) Saccadic pursuit 7 / 7739
24
(OMIM) Upper limb involvement may occur 2 / 7739
25
(OMIM) White matter changes 24954637 IBIS 7 / 7739

Associated genes:

CYP7B1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant ...
Clinical Description OMIM Recessive cases of SPG were described by Freud (1893) and by Jones (1907). Bell and Carmichael (1939) found probable recessive inheritance in 49 of 74 pedigrees. Allport (1971) briefly described 4 of 8 sibs with spastic paraparesis and ...
Molecular genetics OMIM In affected individuals of 5 families with autosomal recessive SPG5A, Tsaousidou et al. (2008) identified homozygous mutations in the CYP7B1 gene (603711.0002-603711.0005). Some of the families had previously been reported by Wilkinson et al. (2003) and Hentati et ...