SPG81
MCID: SPS238
MIFTS: 23

Spastic Paraplegia 81, Autosomal Recessive (SPG81)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 81, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 81, Autosomal Recessive:

Name: Spastic Paraplegia 81, Autosomal Recessive 56 73 6
Spg81 56 73
Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 58
Autosomal Recessive Complex Spg Due to Kennedy Pathway Dysfunction 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or in early infancy
two unrelated consanguineous families have been reported (last curated february 2020)


HPO:

31
spastic paraplegia 81, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Spastic Paraplegia 81, Autosomal Recessive

OMIM : 56 Autosomal recessive spastic paraplegia-81 (SPG81) is a neurologic disorder with onset in infancy. Affected individuals have delayed motor development, progressive spasticity, and other neurologic impairment, including impaired intellectual development and speech delay. Some patients may have additional features, including bifid uvula, microcephaly, seizures, and variable ocular anomalies. One severely affected patient was reported to have cortical visual loss, sensorineural deafness, and achievement of almost no developmental milestones. Brain imaging shows white matter abnormalities, hypomyelination with progressive white matter loss, and sometimes cerebral atrophy. These significant additional abnormalities enable classification of this disorder as a complicated form of SPG (summary by Ahmed et al., 2017 and Horibata et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (618768)

MalaCards based summary : Spastic Paraplegia 81, Autosomal Recessive, is also known as spg81. An important gene associated with Spastic Paraplegia 81, Autosomal Recessive is SELENOI (Selenoprotein I). Affiliated tissues include brain and eye, and related phenotypes are microcephaly and progressive spasticity

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 81, 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. SPG81 is a complicated form characterized by white matter abnormalities, hypomyelination with progressive white matter loss, delayed motor development, progressive spasticity, and impaired intellectual development and speech delay. Additional features may include bifid uvula, microcephaly, seizures, and variable ocular anomalies.

Related Diseases for Spastic Paraplegia 81, 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, Autosomal Recessive 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 Dominant
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 Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Hereditary Spastic Paraplegia Spastic Paraplegia 4
Spastic Paraplegia 8 Spastic Paraplegia 11
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 32 Spastic Paraplegia 39
Spastic Paraplegia 47 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
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 Autosomal Dominant Spastic Paraplegia Type 9b

Symptoms & Phenotypes for Spastic Paraplegia 81, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 81, Autosomal Recessive:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 very rare (1%) Obligate (100%) HP:0000252
2 progressive spasticity 58 31 obligate (100%) Obligate (100%) HP:0002191
3 delayed gross motor development 58 31 obligate (100%) Obligate (100%) HP:0002194
4 progressive spastic paraplegia 58 31 obligate (100%) Obligate (100%) HP:0007020
5 ankle clonus 58 31 very rare (1%) Obligate (100%) HP:0011448
6 moderately short stature 58 31 obligate (100%) Obligate (100%) HP:0008848
7 retinal pigment epithelial mottling 58 31 obligate (100%) Obligate (100%) HP:0007814
8 lower limb hyperreflexia 58 31 obligate (100%) Obligate (100%) HP:0002395
9 progressive spastic paraparesis 58 31 obligate (100%) Obligate (100%) HP:0007199
10 nasal, dysarthic speech 58 31 obligate (100%) Obligate (100%) HP:0008376
11 intellectual disability, mild 58 31 very rare (1%) Frequent (79-30%) HP:0001256
12 reduced visual acuity 58 31 very rare (1%) Frequent (79-30%) HP:0007663
13 babinski sign 58 31 very rare (1%) Frequent (79-30%) HP:0003487
14 bifid uvula 58 31 very rare (1%) Frequent (79-30%) HP:0000193
15 demyelinating motor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007220
16 central retinal vessel vascular tortuosity 58 31 frequent (33%) Frequent (79-30%) HP:0007768
17 hyporeflective spaces on macular oct 58 31 frequent (33%) Frequent (79-30%) HP:0030625
18 seizure 31 frequent (33%) HP:0001250
19 functional motor deficit 58 31 occasional (7.5%) Occasional (29-5%) HP:0004302
20 tetraplegia/tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030182
21 delayed speech and language development 31 very rare (1%) HP:0000750
22 sensorineural hearing impairment 31 very rare (1%) HP:0000407
23 optic atrophy 31 very rare (1%) HP:0000648
24 motor delay 31 very rare (1%) HP:0001270
25 dysarthria 31 very rare (1%) HP:0001260
26 lower limb spasticity 31 very rare (1%) HP:0002061
27 cerebral visual impairment 31 very rare (1%) HP:0100704
28 retinal vascular tortuosity 31 very rare (1%) HP:0012841
29 upper limb spasticity 31 very rare (1%) HP:0006986
30 periventricular white matter hyperdensities 31 very rare (1%) HP:0030891
31 seizures 58 Frequent (79-30%)
32 cleft palate 58 Frequent (79-30%)
33 upper motor neuron dysfunction 58 Occasional (29-5%)
34 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
hypertonia
hypotonia

Head And Neck Mouth:
cleft palate
bifid uvula
high-arched palate

Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
delayed motor development
extensor plantar responses
more
Head And Neck Eyes:
reduced visual acuity
hyperopic astigmatism
retinal pigment abnormalities
cortical visual impairment (patient a)
no eye contact (patient a)
more
Head And Neck Ears:
sensorineural deafness (patient a)

Clinical features from OMIM:

618768

Drugs & Therapeutics for Spastic Paraplegia 81, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 81, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 81, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 81, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 81, Autosomal Recessive:

40
Brain, Eye

Publications for Spastic Paraplegia 81, Autosomal Recessive

Articles related to Spastic Paraplegia 81, Autosomal Recessive:

# Title Authors PMID Year
1
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans. 56 6
29500230 2018
2
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. 6 56
28052917 2017
3
Hereditary Spastic Paraplegia Overview 6
20301682 2000

Variations for Spastic Paraplegia 81, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 81, Autosomal Recessive:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SELENOI NM_033505.4(SELENOI):c.335G>C (p.Arg112Pro)SNV Pathogenic 812574 2:26596259-26596259 2:26373391-26373391
2 SELENOI NM_033505.4(SELENOI):c.732-2A>GSNV Pathogenic 812575 2:26607825-26607825 2:26384957-26384957

Expression for Spastic Paraplegia 81, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 81, Autosomal Recessive.

Pathways for Spastic Paraplegia 81, Autosomal Recessive

GO Terms for Spastic Paraplegia 81, Autosomal Recessive

Sources for Spastic Paraplegia 81, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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