MCID: SPS138
MIFTS: 26

Spastic Paraplegia 72, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 72, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 72, Autosomal Recessive:

Name: Spastic Paraplegia 72, Autosomal Recessive 54 71 29 69
Spastic Paraplegia 72, Autosomal Dominant 54 71 69
Spg72 56 71
Autosomal Recessive Spastic Paraplegia 72 71
Autosomal Dominant Spastic Paraplegia 72 71
Autosomal Spastic Paraplegia Type 72 56
Spastic Paraplegia 72 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant
autosomal recessive

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


HPO:

32
spastic paraplegia 72, autosomal recessive:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Spastic Paraplegia 72, Autosomal Recessive

UniProtKB/Swiss-Prot : 71 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 spastic paraplegia 72 and hereditary spastic paraplegia 72, and has symptoms including hyperreflexia, spastic paraplegia and muscle stiffness. An important gene associated with Spastic Paraplegia 72, Autosomal Recessive is REEP2 (Receptor Accessory Protein 2).

OMIM : 54
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)

Related Diseases for Spastic Paraplegia 72, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 62 Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 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
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
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 72, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spastic paraplegia 72 11.2
2 hereditary spastic paraplegia 72 11.1

Symptoms & Phenotypes for Spastic Paraplegia 72, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

54

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

Genitourinary- Bladder:
sphincter disturbances (in some patients)

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

Muscle Soft Tissue:
muscle stiffness

Skeletal- Feet:
pes cavus (in some patients)


Clinical features from OMIM:

615625

Human phenotypes related to Spastic Paraplegia 72, Autosomal Recessive:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 HP:0001347
2 spastic paraplegia 32 HP:0001258
3 muscle stiffness 32 HP:0003552
4 pes cavus 32 occasional (7.5%) HP:0001761
5 spastic gait 32 HP:0002064
6 babinski sign 32 HP:0003487
7 urinary bladder sphincter dysfunction 32 occasional (7.5%) HP:0002839

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:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 72, Autosomal Recessive 29

Anatomical Context for Spastic Paraplegia 72, Autosomal Recessive

Publications for Spastic Paraplegia 72, Autosomal Recessive

Variations for Spastic Paraplegia 72, Autosomal Recessive

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

71
id Symbol AA change Variation ID SNP ID
1 REEP2 p.Val36Glu VAR_070996 rs483352923
2 REEP2 p.Phe72Tyr VAR_070997 rs483352925

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 REEP2 NM_016606.3(REEP2): c.107T> A (p.Val36Glu) single nucleotide variant Pathogenic rs483352923 GRCh37 Chromosome 5, 137777075: 137777075
2 REEP2 NM_016606.3(REEP2): c.105+3G> T single nucleotide variant Pathogenic rs483352924 GRCh37 Chromosome 5, 137776780: 137776780
3 REEP2 NM_016606.3(REEP2): c.215T> A (p.Phe72Tyr) single nucleotide variant Pathogenic rs483352925 GRCh37 Chromosome 5, 137780136: 137780136

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

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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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