Autosomal recessive spastic paraplegia type 44

General Information (adopted from Orphanet):

Synonyms, Signs: SPG44
Number of Symptoms 24
OrphanetNr: 320401
OMIM Id: 613206
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:0000020) Urinary incontinence frequent [HPO:skoehler] 75 / 7739
2
(HPO:0000514) Slow saccadic eye movements 21 / 7739
3
(HPO:0000407) Sensorineural hearing impairment frequent [HPO:skoehler] 524 / 7739
4
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
5
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
6
(HPO:0002936) Distal sensory impairment frequent [HPO:skoehler] 96 / 7739
7
(HPO:0001251) Ataxia 413 / 7739
8
(HPO:0001327) Photomyoclonic seizures 125 / 7739
9
(HPO:0002061) Lower limb spasticity 56 / 7739
10
(HPO:0001250) Seizures frequent [HPO:skoehler] 1245 / 7739
11
(HPO:0002064) Spastic gait 46 / 7739
12
(HPO:0001347) Hyperreflexia 363 / 7739
13
(HPO:0001310) Dysmetria 76 / 7739
14
(HPO:0002080) Intention tremor 44 / 7739
15
(HPO:0001258) Spastic paraplegia 97 / 7739
16
(HPO:0001260) Dysarthria 329 / 7739
17
(HPO:0003487) Babinski sign 179 / 7739
18
(HPO:0006986) Upper limb spasticity 15 / 7739
19
(HPO:0001761) Pes cavus 225 / 7739
20
(HPO:0002650) Scoliosis common [HPO:skoehler] 705 / 7739
21
(HPO:0002019) Constipation frequent [HPO:skoehler] 194 / 7739
22
(OMIM) Cognitive impairment, mild 15 / 7739
23
(OMIM) Hypomyelinating leukoencephalopathy 1 / 7739
24
(HPO:0002079) Hypoplasia of the corpus callosum 3/3 [HPO:probinson] 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Orthmann-Murphy et al. (2009) reported 3 members of a large Italian family with spastic paraplegia. Although mild symptoms were reported in the first or second decades, there was more severe progression with disability in the third decade. Physical ...
Molecular genetics OMIM In 3 affected members of an Italian family with SPG44, Orthmann-Murphy et al. (2009) identified a homozygous mutation in the GJC2 gene (I33M; 608803.0008). Heterozygous family members were unaffected. The authors noted that the phenotype was less severe ...