SPG72
MCID: HRD188
MIFTS: 28

Hereditary Spastic Paraplegia 72 (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 Hereditary Spastic Paraplegia 72

MalaCards integrated aliases for Hereditary Spastic Paraplegia 72:

Name: Hereditary Spastic Paraplegia 72 12 15
Spastic Paraplegia 72, Autosomal Recessive 70
Autosomal Spastic Paraplegia Type 72 12
Spg72 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110817
ICD10 32 G11.4
UMLS 70 C3810160

Summaries for Hereditary Spastic Paraplegia 72

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the REEP2 gene on chromosome 5q31.

MalaCards based summary : Hereditary Spastic Paraplegia 72, also known as spastic paraplegia 72, autosomal recessive, is related to paraplegia and spastic paraplegia 72, autosomal recessive, and has symptoms including muscular stiffness An important gene associated with Hereditary Spastic Paraplegia 72 is REEP2 (Receptor Accessory Protein 2), and among its related pathways/superpathways is Cytoskeletal Signaling. Affiliated tissues include eye, and related phenotypes are rigidity and spastic gait

Related Diseases for Hereditary Spastic Paraplegia 72

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 Hereditary Spastic Paraplegia 72 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 paraplegia 26.9 ZFYVE26 SPG7 SPG11 SPAST RTN2 REEP2
2 spastic paraplegia 72, autosomal recessive 11.3
3 spastic paraplegia 25, autosomal recessive 10.1 ZFYVE26 REEP1
4 spastic paraplegia 34, x-linked 10.1 ZFYVE26 REEP1
5 spastic paraplegia 73, autosomal dominant 10.1 REEP1 ATL1
6 neuropathy, hereditary sensory, type id 10.1 SPAST ATL1
7 spastic paraplegia 53, autosomal recessive 10.0 RTN2 ATL1 AP5Z1
8 spastic paraplegia, optic atrophy, and neuropathy 10.0 ATL1 AP5Z1
9 hereditary spastic paraplegia 23 10.0 ZFYVE26 SPG11
10 spastic paraplegia 64, autosomal recessive 9.9 ZFYVE26 SPG11
11 neuronopathy, distal hereditary motor, type va 9.9 RTN2 REEP2 REEP1 ATL1
12 complex hereditary spastic paraplegia 9.9 SPG7 SPG11
13 amyotrophic lateral sclerosis 1 9.9
14 alacrima, achalasia, and mental retardation syndrome 9.9
15 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
16 lateral sclerosis 9.9
17 x-linked complicated spastic paraplegia type 1 9.9
18 spasticity 9.9
19 spastic paraplegia 32, autosomal recessive 9.9 SPG7 SPG11
20 nescav syndrome 9.8 ZFYVE26 RTN2 REEP1 AP5Z1
21 spastic paraplegia 63, autosomal recessive 9.8 SPG7 SPG11
22 amyotrophic lateral sclerosis type 5 9.8 ZFYVE26 SPG11 AP5Z1
23 spinocerebellar ataxia, autosomal recessive 20 9.8 ZFYVE26 SPG11
24 spastic paraplegia 7, autosomal recessive 9.8 SPG7 SPG11
25 spastic paraplegia 37, autosomal dominant 9.8 ZFYVE26 REEP1 ERLIN2
26 spastic paraplegia 49, autosomal recessive 9.7 ZFYVE26 SPG7 SPG11
27 spastic paraplegia 16, x-linked 9.7 SPG7 SPG11 SPAST
28 spastic paraplegia 20, autosomal recessive 9.7 ZFYVE26 SPG7 SPAST ATL1
29 spastic paraplegia 55, autosomal recessive 9.7 ZFYVE26 SPG7 SPG11
30 spastic diplegia 9.7 SPAST RAB3GAP2
31 spastic paraplegia 26, autosomal recessive 9.7 SPG11 SPAST REEP2 REEP1
32 spastic paraparesis 9.7 SPG7 SPG11 SPAST
33 spastic paraplegia 52, autosomal recessive 9.7 ZFYVE26 SPG11 RTN2 AP5Z1
34 motor neuron disease 9.6 SPAST RAB3GAP2 ATL1 ARL6IP1
35 pure hereditary spastic paraplegia 9.6 SPAST RTN2 ERLIN2 ATL1
36 neuropathy 9.6 ZFYVE26 SPG7 SPG11 ATL1
37 spastic paraplegia 14, autosomal recessive 9.6 SPG7 SPG11 SPAST ATL1
38 spastic paraplegia 57, autosomal recessive 9.6 SPG11 REEP1 ERLIN2
39 motor peripheral neuropathy 9.6 ZFYVE26 SPG7 SPG11 REEP1
40 spastic paraplegia 28, autosomal recessive 9.6 SPG7 SPG11 REEP1 AP5Z1
41 spastic paraplegia 54, autosomal recessive 9.6 SPG7 SPG11 REEP1 AP5Z1
42 hereditary spastic paraplegia 51 9.6 ZFYVE26 SPG7 SPG11 AP5Z1
43 spastic paraplegia 44, autosomal recessive 9.5 SPG11 ERLIN2 AP5Z1
44 charcot-marie-tooth disease, axonal, type 2e 9.5 ZFYVE26 SPG7 SPG11 SPAST
45 neuropathy, hereditary sensory, type iic 9.5 SPG11 RTN2 REEP1 ERLIN2
46 spastic paraplegia 5a, autosomal recessive 9.4 ZFYVE26 SPG7 SPG11 SPAST REEP2
47 spastic paraplegia 50, autosomal recessive 9.4 ZFYVE26 SPG7 SPG11 RTN2 AP5Z1
48 spastic paraplegia 35, autosomal recessive 9.4 ZFYVE26 SPG7 SPG11 REEP1 AP5Z1
49 spastic paraplegia 11, autosomal recessive 9.4 ZFYVE26 SPG7 SPG11 SPAST AP5Z1
50 spastic paraplegia 46, autosomal recessive 9.4 ZFYVE26 SPG7 SPG11 SPAST AP5Z1

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia 72:



Diseases related to Hereditary Spastic Paraplegia 72

Symptoms & Phenotypes for Hereditary Spastic Paraplegia 72

Human phenotypes related to Hereditary Spastic Paraplegia 72:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 rigidity 31 hallmark (90%) HP:0002063
2 spastic gait 31 hallmark (90%) HP:0002064
3 pes cavus 31 frequent (33%) HP:0001761
4 urinary bladder sphincter dysfunction 31 frequent (33%) HP:0002839
5 memory impairment 31 occasional (7.5%) HP:0002354
6 pain 31 occasional (7.5%) HP:0012531
7 postural tremor 31 occasional (7.5%) HP:0002174
8 impaired vibration sensation at ankles 31 occasional (7.5%) HP:0006938

UMLS symptoms related to Hereditary Spastic Paraplegia 72:


muscular stiffness

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia 72:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 AP5Z1 ARL6IP1 ATL1 RAB3GAP2 REEP1 SPAST

Drugs & Therapeutics for Hereditary Spastic Paraplegia 72

Search Clinical Trials , NIH Clinical Center for Hereditary Spastic Paraplegia 72

Genetic Tests for Hereditary Spastic Paraplegia 72

Anatomical Context for Hereditary Spastic Paraplegia 72

MalaCards organs/tissues related to Hereditary Spastic Paraplegia 72:

40
Eye

Publications for Hereditary Spastic Paraplegia 72

Articles related to Hereditary Spastic Paraplegia 72:

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

Variations for Hereditary Spastic Paraplegia 72

Expression for Hereditary Spastic Paraplegia 72

Search GEO for disease gene expression data for Hereditary Spastic Paraplegia 72.

Pathways for Hereditary Spastic Paraplegia 72

Pathways related to Hereditary Spastic Paraplegia 72 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 ZFYVE26 ERLIN2 ATL1

GO Terms for Hereditary Spastic Paraplegia 72

Cellular components related to Hereditary Spastic Paraplegia 72 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.7 SPAST RTN2 REEP2 REEP1 ERLIN2 ATL1
2 endoplasmic reticulum membrane GO:0005789 9.56 SPAST RTN2 REEP2 REEP1 RAB3GAP2 ERLIN2
3 cytoplasmic microtubule GO:0005881 9.26 REEP2 REEP1
4 endoplasmic reticulum tubular network GO:0071782 8.92 SPAST REEP2 REEP1 ATL1

Biological processes related to Hereditary Spastic Paraplegia 72 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cytokinesis GO:0000281 9.26 ZFYVE26 SPAST
2 anterograde axonal transport GO:0008089 9.16 SPG7 SPAST
3 endoplasmic reticulum tubular network organization GO:0071786 8.96 REEP2 REEP1
4 endoplasmic reticulum tubular network membrane organization GO:1990809 8.62 ATL1 ARL6IP1

Molecular functions related to Hereditary Spastic Paraplegia 72 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 SPAST REEP2 REEP1

Sources for Hereditary Spastic Paraplegia 72

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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