MCID: SPS188
MIFTS: 14

Spastic Paraplegia-Paget Disease of Bone Syndrome

Categories: Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia-Paget Disease of Bone Syndrome

MalaCards integrated aliases for Spastic Paraplegia-Paget Disease of Bone Syndrome:

Name: Spastic Paraplegia-Paget Disease of Bone Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
spastic paraplegia-paget disease of bone syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA329475
ICD10 via Orphanet 34 G11.4

Summaries for Spastic Paraplegia-Paget Disease of Bone Syndrome

MalaCards based summary : Spastic Paraplegia-Paget Disease of Bone Syndrome An important gene associated with Spastic Paraplegia-Paget Disease of Bone Syndrome is VCP (Valosin Containing Protein). Affiliated tissues include bone and tongue, and related phenotypes are spastic paraplegia and gait disturbance

Related Diseases for Spastic Paraplegia-Paget Disease of Bone Syndrome

Symptoms & Phenotypes for Spastic Paraplegia-Paget Disease of Bone Syndrome

Human phenotypes related to Spastic Paraplegia-Paget Disease of Bone Syndrome:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic paraplegia 59 32 obligate (100%) Obligate (100%) HP:0001258
2 gait disturbance 59 32 obligate (100%) Obligate (100%) HP:0001288
3 spastic gait 59 32 obligate (100%) Obligate (100%) HP:0002064
4 lower limb hyperreflexia 59 32 obligate (100%) Obligate (100%) HP:0002395
5 elevated alkaline phosphatase 59 32 obligate (100%) Obligate (100%) HP:0003155
6 generalized muscle weakness 59 32 obligate (100%) Obligate (100%) HP:0003324
7 babinski sign 59 32 obligate (100%) Obligate (100%) HP:0003487
8 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
9 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
10 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
11 increased spinal bone density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004563
12 tongue fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0001308
13 limb fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0007289
14 emg: neuropathic changes 59 Obligate (100%)
15 abnormality of skeletal morphology 59 Very frequent (99-80%)
16 emg 32 obligate (100%) HP:0003445

Drugs & Therapeutics for Spastic Paraplegia-Paget Disease of Bone Syndrome

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia-Paget Disease of Bone Syndrome

Genetic Tests for Spastic Paraplegia-Paget Disease of Bone Syndrome

Anatomical Context for Spastic Paraplegia-Paget Disease of Bone Syndrome

MalaCards organs/tissues related to Spastic Paraplegia-Paget Disease of Bone Syndrome:

41
Bone, Tongue

Publications for Spastic Paraplegia-Paget Disease of Bone Syndrome

Variations for Spastic Paraplegia-Paget Disease of Bone Syndrome

Expression for Spastic Paraplegia-Paget Disease of Bone Syndrome

Search GEO for disease gene expression data for Spastic Paraplegia-Paget Disease of Bone Syndrome.

Pathways for Spastic Paraplegia-Paget Disease of Bone Syndrome

GO Terms for Spastic Paraplegia-Paget Disease of Bone Syndrome

Sources for Spastic Paraplegia-Paget Disease of Bone Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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