MCID: SPS096
MIFTS: 33

Spastic Paraplegia 44, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 44, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 44, Autosomal Recessive:

Name: Spastic Paraplegia 44, Autosomal Recessive 57 75 29 13 6 73
Spg44 57 12 59 75
Hereditary Spastic Paraplegia 44 12 15
Paraplegia, Spastic, Type 44, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia Type 44 59
Autosomal Recessive Spastic Paraplegia 44 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 44
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of mild symptoms in first or second decade
progression in adulthood
loss of independent ambulation (in 2 of 3 patients)
one family has been reported (last curated january 2010)


HPO:

32
spastic paraplegia 44, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 44, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 44, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

MalaCards based summary : Spastic Paraplegia 44, Autosomal Recessive, also known as spg44, is related to spastic paraplegia 47, autosomal recessive and spastic paraplegia 39, autosomal recessive, and has symptoms including cerebellar ataxia and action tremor. An important gene associated with Spastic Paraplegia 44, Autosomal Recessive is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include eye, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the GJC2 gene on chromosome 1q42.

Description from OMIM: 613206

Related Diseases for Spastic Paraplegia 44, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 44, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 47, autosomal recessive 10.0 AP5Z1 ERLIN2
2 spastic paraplegia 39, autosomal recessive 9.9 AP5Z1 ERLIN2
3 spastic paraplegia 42, autosomal dominant 9.9 AP5Z1 ERLIN2
4 spastic paraplegia 33, autosomal dominant 9.9 AP5Z1 ZFYVE27
5 spastic paraplegia 6, autosomal dominant 9.8 AP5Z1 ERLIN2
6 spastic paraplegia 31, autosomal dominant 9.8 AP5Z1 ZFYVE27
7 spastic paraplegia 8, autosomal dominant 9.7 AP5Z1 ERLIN2
8 spastic paraplegia 13, autosomal dominant 9.5 AP5Z1 ERLIN2 GJC2
9 spastic paraplegia 15, autosomal recessive 9.5 AP5Z1 SPG21
10 spastic paraplegia 10, autosomal dominant 9.5 AP5Z1 ZFYVE27
11 spastic paraplegia 12, autosomal dominant 9.3 AP5Z1 ERLIN2 ZFYVE27
12 spastic paraplegia 4, autosomal dominant 9.2 ERLIN2 ZFYVE27
13 spastic paraplegia 18, autosomal recessive 9.1 AP5Z1 ERLIN2 SPG21
14 spastic paraplegia 48, autosomal recessive 9.1 AP5Z1 ERLIN2 SPG21
15 spastic paraplegia 30, autosomal recessive 9.1 AP5Z1 ERLIN2 SPG21
16 spastic paraplegia 35, autosomal recessive 9.0 AP5Z1 ERLIN2 SPG21
17 spastic paraplegia 2, x-linked 8.8 AP5Z1 ERLIN2 GJC2 ZFYVE27
18 paraplegia 8.3 AP5Z1 ERLIN2 SPG21 ZFYVE27
19 hereditary spastic paraplegia 7.8 AP5Z1 ERLIN2 GJC2 SPG21 ZFYVE27

Graphical network of the top 20 diseases related to Spastic Paraplegia 44, Autosomal Recessive:



Diseases related to Spastic Paraplegia 44, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 44, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysmetria
intention tremor
lower limb spasticity
more
Head And Neck Eyes:
slow saccades

Abdomen Gastrointestinal:
constipation (in 1 of 3 patients)

Skeletal Spine:
scoliosis (in 2 of 3 patients)

Skeletal Feet:
pes cavus

Head And Neck Ears:
sensorineural hearing loss (in 1 of 3 patients)

Genitourinary Bladder:
urinary incontinence (in 1 of 3 patients)

Neurologic Peripheral Nervous System:
decreased distal sensation (in 1 of 3 patients)


Clinical features from OMIM:

613206

Human phenotypes related to Spastic Paraplegia 44, Autosomal Recessive:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
5 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
6 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
7 pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001761
8 urinary bladder sphincter dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0002839
9 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
10 lower limb spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002061
11 delayed gross motor development 59 32 occasional (7.5%) Occasional (29-5%) HP:0002194
12 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
13 abnormal motor evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0012896
14 cns hypomyelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0003429
15 abnormal auditory evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0006958
16 abnormality of somatosensory evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0007377
17 hyperreflexia 32 HP:0001347
18 constipation 32 frequent (33%) HP:0002019
19 scoliosis 32 frequent (33%) HP:0002650
20 cognitive impairment 32 HP:0100543
21 babinski sign 32 HP:0003487
22 dysmetria 32 HP:0001310
23 intention tremor 32 HP:0002080
24 spastic paraplegia 32 HP:0001258
25 spastic gait 32 HP:0002064
26 urinary incontinence 32 frequent (33%) HP:0000020
27 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
28 slow saccadic eye movements 32 HP:0000514
29 distal sensory impairment 32 frequent (33%) HP:0002936
30 upper limb spasticity 32 HP:0006986

UMLS symptoms related to Spastic Paraplegia 44, Autosomal Recessive:


cerebellar ataxia, action tremor

Drugs & Therapeutics for Spastic Paraplegia 44, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 44, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 44, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 44, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 44, Autosomal Recessive 29 GJC2

Anatomical Context for Spastic Paraplegia 44, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 44, Autosomal Recessive:

41
Eye

Publications for Spastic Paraplegia 44, Autosomal Recessive

Variations for Spastic Paraplegia 44, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 44, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 GJC2 p.Ile36Met VAR_063172 rs75469429

ClinVar genetic disease variations for Spastic Paraplegia 44, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJC2 NM_020435.3(GJC2): c.108C> G (p.Ile36Met) single nucleotide variant Pathogenic rs75469429 GRCh37 Chromosome 1, 228345567: 228345567
2 GJC2 NM_020435.3(GJC2): c.108C> G (p.Ile36Met) single nucleotide variant Pathogenic rs75469429 GRCh38 Chromosome 1, 228157866: 228157866
3 GJC2 NM_020435.3(GJC2): c.1254_1258delGCCCAinsCG (p.Lys418_Arg420delinsAsnGly) indel not provided GRCh37 Chromosome 1, 228346713: 228346717
4 GJC2 NM_020435.3(GJC2): c.1254_1258delGCCCAinsCG (p.Lys418_Arg420delinsAsnGly) indel not provided GRCh38 Chromosome 1, 228159012: 228159016

Expression for Spastic Paraplegia 44, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 44, Autosomal Recessive.

Pathways for Spastic Paraplegia 44, Autosomal Recessive

Pathways related to Spastic Paraplegia 44, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.01 SPG21 ZFYVE27

GO Terms for Spastic Paraplegia 44, Autosomal Recessive

Sources for Spastic Paraplegia 44, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....