MCID: SPS047
MIFTS: 16

Spastic Paraplegia with Precocious Puberty

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia with Precocious Puberty

MalaCards integrated aliases for Spastic Paraplegia with Precocious Puberty:

Name: Spastic Paraplegia with Precocious Puberty 56 52
Precocious Puberty with Spastic Paraplegia 56 52
Familial Spastic Paraplegia, Mental Retardation, and Precocious Puberty 52
Spastic Paraplegia-Precocious Puberty Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
spastic paraplegia-precocious puberty syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant with variable expression


HPO:

31
spastic paraplegia with precocious puberty:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 182820
MESH via Orphanet 44 C536874
UMLS via Orphanet 72 C1866850
Orphanet 58 ORPHA2826
MedGen 41 C1866850

Summaries for Spastic Paraplegia with Precocious Puberty

MalaCards based summary : Spastic Paraplegia with Precocious Puberty, also known as precocious puberty with spastic paraplegia, is related to paraplegia and precocious puberty. Related phenotypes are dysarthria and intellectual disability, moderate

More information from OMIM: 182820

Related Diseases for Spastic Paraplegia with Precocious Puberty

Diseases related to Spastic Paraplegia with Precocious Puberty via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paraplegia 10.3
2 precocious puberty 10.3

Symptoms & Phenotypes for Spastic Paraplegia with Precocious Puberty

Human phenotypes related to Spastic Paraplegia with Precocious Puberty:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
3 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
4 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
5 precocious puberty in males 58 31 frequent (33%) Frequent (79-30%) HP:0008185
6 hyperplasia of the leydig cells 58 31 frequent (33%) Frequent (79-30%) HP:0010791
7 intellectual disability 31 HP:0001249
8 precocious puberty 31 HP:0000826
9 abnormality of metabolism/homeostasis 31 HP:0001939
10 spastic paraplegia 31 HP:0001258

Symptoms via clinical synopsis from OMIM:

56
Neuro:
dysarthria
spastic paraplegia
mental retardation
brisk leg reflexes

Lab:
leydig cell hyperplasia

Endocrine:
precocious puberty

Clinical features from OMIM:

182820

Drugs & Therapeutics for Spastic Paraplegia with Precocious Puberty

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia with Precocious Puberty

Genetic Tests for Spastic Paraplegia with Precocious Puberty

Anatomical Context for Spastic Paraplegia with Precocious Puberty

Publications for Spastic Paraplegia with Precocious Puberty

Articles related to Spastic Paraplegia with Precocious Puberty:

# Title Authors PMID Year
1
Familial spastic paraplegia, mental retardation, and precocious puberty. 61 56
6639408 1983

Variations for Spastic Paraplegia with Precocious Puberty

Expression for Spastic Paraplegia with Precocious Puberty

Search GEO for disease gene expression data for Spastic Paraplegia with Precocious Puberty.

Pathways for Spastic Paraplegia with Precocious Puberty

GO Terms for Spastic Paraplegia with Precocious Puberty

Sources for Spastic Paraplegia with Precocious Puberty

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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