SPG72
MCID: SPS138
MIFTS: 29

Spastic Paraplegia 72, Autosomal Recessive (SPG72)

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

Aliases & Classifications for Spastic Paraplegia 72, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 72, Autosomal Recessive:

Name: Spastic Paraplegia 72, Autosomal Recessive 57 72 29 6 70
Spastic Paraplegia 72, Autosomal Dominant 57 72 29 6 70
Spg72 57 58 72
Paraplegia, Spastic, Type 72, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 72 72
Autosomal Dominant Spastic Paraplegia 72 72
Autosomal Spastic Paraplegia Type 72 58
Spastic Paraplegia 72 72

Characteristics:

Orphanet epidemiological data:

58
autosomal spastic paraplegia type 72
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
slowly progressive
onset in early childhood
two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)


HPO:

31
spastic paraplegia 72, autosomal recessive:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 615625
MeSH 44 D015419
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA401849
UMLS 70 C3810160 C3810161

Summaries for Spastic Paraplegia 72, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 72: 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. SPG72 is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal. SPG72 inheritance is autosomal dominant or recessive.

MalaCards based summary : Spastic Paraplegia 72, Autosomal Recessive, also known as spastic paraplegia 72, autosomal dominant, is related to hereditary spastic paraplegia 72 and amyotrophic lateral sclerosis 1, and has symptoms including muscular stiffness An important gene associated with Spastic Paraplegia 72, Autosomal Recessive is REEP2 (Receptor Accessory Protein 2). Related phenotypes are pes cavus and urinary bladder sphincter dysfunction

OMIM® : 57 Hereditary spastic paraplegia-72 is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. The disorder is slowly progressive, and some patients develop the need for assistance in walking. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal (summary by Esteves et al., 2014). For a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600), and for autosomal recessive spastic paraplegia, see SPG5A (270800). (615625) (Updated 05-Apr-2021)

Related Diseases for Spastic Paraplegia 72, 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
Spastic Paraplegia 83, 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

Diseases related to Spastic Paraplegia 72, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 72 11.4
2 amyotrophic lateral sclerosis 1 9.9
3 alacrima, achalasia, and mental retardation syndrome 9.9
4 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
5 lateral sclerosis 9.9
6 paraplegia 9.9
7 x-linked complicated spastic paraplegia type 1 9.9
8 spasticity 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia 72, Autosomal Recessive:



Diseases related to Spastic Paraplegia 72, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 72, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 72, Autosomal Recessive:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes cavus 58 31 occasional (7.5%) Frequent (79-30%) HP:0001761
2 urinary bladder sphincter dysfunction 58 31 occasional (7.5%) Frequent (79-30%) HP:0002839
3 spastic gait 58 31 Very frequent (99-80%) HP:0002064
4 hyperreflexia 31 HP:0001347
5 muscle stiffness 31 HP:0003552
6 memory impairment 58 Occasional (29-5%)
7 spastic paraplegia 31 HP:0001258
8 babinski sign 31 HP:0003487
9 rigidity 58 Very frequent (99-80%)
10 abnormality of higher mental function 58 Occasional (29-5%)
11 pain 58 Occasional (29-5%)
12 postural tremor 58 Occasional (29-5%)
13 impaired vibration sensation at ankles 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic gait
extensor plantar responses
tow-walking
inability to run (in some patients)

Skeletal Feet:
pes cavus (in some patients)

Neurologic Peripheral Nervous System:
decreased vibratory sense at the ankles (in some patients)

Muscle Soft Tissue:
muscle stiffness

Genitourinary Bladder:
sphincter disturbances (in some patients)

Clinical features from OMIM®:

615625 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 72, Autosomal Recessive:


muscular stiffness

Drugs & Therapeutics for Spastic Paraplegia 72, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 72, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 72, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 72, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 72, Autosomal Recessive 29 REEP2
2 Spastic Paraplegia 72, Autosomal Dominant 29

Anatomical Context for Spastic Paraplegia 72, Autosomal Recessive

Publications for Spastic Paraplegia 72, Autosomal Recessive

Articles related to Spastic Paraplegia 72, Autosomal Recessive:

# Title Authors PMID Year
1
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. 6 57
24388663 2014
2
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. 6 61
28491902 2017
3
A Nepalese family with an REEP2 mutation: clinical and genetic study. 61
33526816 2021
4
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature. 61
31236401 2019
5
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. 61
26008818 2015

Variations for Spastic Paraplegia 72, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 72, Autosomal Recessive:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 REEP2 NM_001271803.2(REEP2):c.107T>A (p.Val36Glu) SNV Pathogenic 97002 rs483352923 GRCh37: 5:137777075-137777075
GRCh38: 5:138441386-138441386
2 REEP2 NM_001271803.2(REEP2):c.215T>A (p.Phe72Tyr) SNV Pathogenic 97004 rs483352925 GRCh37: 5:137780136-137780136
GRCh38: 5:138444447-138444447
3 REEP2 NM_001271803.2(REEP2):c.105+3G>T SNV Pathogenic 97003 rs483352924 GRCh37: 5:137776780-137776780
GRCh38: 5:138441091-138441091
4 REEP2 NM_001271803.2(REEP2):c.696+2T>G SNV Likely pathogenic 804453 rs1580980701 GRCh37: 5:137781289-137781289
GRCh38: 5:138445600-138445600
5 REEP2 NM_001271803.2(REEP2):c.119T>G (p.Met40Arg) SNV Likely pathogenic 864419 GRCh37: 5:137777087-137777087
GRCh38: 5:138441398-138441398
6 REEP2 NM_001271803.2(REEP2):c.331C>T (p.Arg111Ter) SNV Likely pathogenic 1029275 GRCh37: 5:137780470-137780470
GRCh38: 5:138444781-138444781
7 REEP2 NM_001271803.2(REEP2):c.523C>T (p.Arg175Ter) SNV Likely pathogenic 1029276 GRCh37: 5:137781022-137781022
GRCh38: 5:138445333-138445333
8 REEP2 NM_001271803.2(REEP2):c.130G>A (p.Val44Ile) SNV Uncertain significance 855237 GRCh37: 5:137777098-137777098
GRCh38: 5:138441409-138441409
9 REEP2 NM_001271803.2(REEP2):c.524G>A (p.Arg175Gln) SNV Uncertain significance 855522 GRCh37: 5:137781023-137781023
GRCh38: 5:138445334-138445334
10 REEP2 NM_001271803.2(REEP2):c.479G>A (p.Arg160Gln) SNV Uncertain significance 834341 GRCh37: 5:137780978-137780978
GRCh38: 5:138445289-138445289
11 REEP2 NM_001271803.2(REEP2):c.748G>A (p.Gly250Arg) SNV Uncertain significance 474830 rs1330664969 GRCh37: 5:137781423-137781423
GRCh38: 5:138445734-138445734
12 REEP2 NM_001271803.2(REEP2):c.606G>C (p.Pro202=) SNV Likely benign 740546 rs139556429 GRCh37: 5:137781197-137781197
GRCh38: 5:138445508-138445508
13 REEP2 NM_001271803.2(REEP2):c.159G>A (p.Thr53=) SNV Likely benign 766996 rs138667579 GRCh37: 5:137777127-137777127
GRCh38: 5:138441438-138441438
14 REEP2 NM_001271803.2(REEP2):c.78C>T (p.Ala26=) SNV Benign 707791 rs146777982 GRCh37: 5:137776750-137776750
GRCh38: 5:138441061-138441061

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 72, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 REEP2 p.Val36Glu VAR_070996 rs483352923
2 REEP2 p.Phe72Tyr VAR_070997 rs483352925

Expression for Spastic Paraplegia 72, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 72, Autosomal Recessive.

Pathways for Spastic Paraplegia 72, Autosomal Recessive

GO Terms for Spastic Paraplegia 72, Autosomal Recessive

Sources for Spastic Paraplegia 72, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....