MCID: SPS138
MIFTS: 25

Spastic Paraplegia 72, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 72, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 72, Autosomal Recessive:

Name: Spastic Paraplegia 72, Autosomal Recessive 53 71 28 69
Spastic Paraplegia 72, Autosomal Dominant 53 71 28 69
Spg72 53 55 71
Autosomal Recessive Spastic Paraplegia 72 71
Autosomal Dominant Spastic Paraplegia 72 71
Autosomal Spastic Paraplegia Type 72 55
Spastic Paraplegia 72 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
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 hereditary spastic paraplegia 72, and has symptoms including hyperreflexia, babinski sign and pes cavus. An important gene associated with Spastic Paraplegia 72, Autosomal Recessive is REEP2 (Receptor Accessory Protein 2).

OMIM : 53 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 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 72, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 72 11.3

Symptoms & Phenotypes for Spastic Paraplegia 72, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Spastic Paraplegia 72, Autosomal Recessive:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 babinski sign 31 HP:0003487
3 pes cavus 31 occasional (7.5%) HP:0001761
4 urinary bladder sphincter dysfunction 31 occasional (7.5%) HP:0002839
5 spastic paraplegia 31 HP:0001258
6 spastic gait 31 HP:0002064
7 muscle stiffness 31 HP:0003552

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 28 REEP2
2 Spastic Paraplegia 72, Autosomal Dominant 28

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
# 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
# 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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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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