Autosomal recessive spastic paraplegia type 49

General Information (adopted from Orphanet):

Synonyms, Signs: SPG49
Number of Symptoms 31
OrphanetNr: 320385
OMIM Id: 615031
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive complex spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000294) Low anterior hairline 52 / 7739
2
(HPO:0000475) Broad neck 12 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000248) Brachycephaly 222 / 7739
5
(HPO:0000678) Dental crowding 65 / 7739
6
(HPO:0000470) Short neck 345 / 7739
7
(HPO:0000311) Round face 104 / 7739
8
(HPO:0001258) Spastic paraplegia 97 / 7739
9
(HPO:0001260) Dysarthria 329 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0001327) Photomyoclonic seizures 125 / 7739
12
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
13
(HPO:0001284) Areflexia 198 / 7739
14
(HPO:0002066) Gait ataxia 327 / 7739
15
(HPO:0001310) Dysmetria 76 / 7739
16
(HPO:0002064) Spastic gait 46 / 7739
17
(HPO:0002020) Gastroesophageal reflux 101 / 7739
18
(HPO:0004322) Short stature 1232 / 7739
19
(HPO:0002871) Central apnea 10 / 7739
20
(HPO:0001252) Muscular hypotonia 990 / 7739
21
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
(HPO:0001324) Muscle weakness 859 / 7739
23
(HPO:0010547) Muscle flaccidity 466 / 7739
24
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
25
(HPO:0002059) Cerebral atrophy 171 / 7739
26
(OMIM) Central apnea, episodic 1 / 7739
27
(OMIM) Episodes of decreased alertness, hypotonia, and poor respiration requiring mechanical ventilation 1 / 7739
28
(OMIM) Hypomimia 3 / 7739
29
(OMIM) Chubby appearance 1 / 7739
30
(OMIM) Rigid gait 2 / 7739
31
(OMIM) Short broad neck 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SPG49 is an autosomal recessive complicated form of spastic paraplegia, a neurodegenerative disorder of the corticospinal tracts. It is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also ...
Clinical Description OMIM Oz-Levi et al. (2012) reported 5 individuals from 3 apparently unrelated Jewish Bukharian families with a complicated form of spastic paraplegia. Affected individuals presented during the second year of life with hypotonia and developmental delay. Dysmorphic features included ...
Molecular genetics OMIM By exome sequencing of 4 Jewish Bukharian patients with complicated spastic paraplegia, Oz-Levi et al. (2012) identified a homozygous truncating mutation in the TECPR2 gene (615000.0001). Haplotype analysis suggested a founder effect. Skin fibroblasts from an affected individual ...