MCID: SPS047
MIFTS: 15

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 57 53
Precocious Puberty with Spastic Paraplegia 57 53
Familial Spastic Paraplegia, Mental Retardation, and Precocious Puberty 53
Spastic Paraplegia-Precocious Puberty Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
spastic paraplegia-precocious puberty syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant with variable expression


HPO:

32
spastic paraplegia with precocious puberty:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 182820
MESH via Orphanet 45 C536874
UMLS via Orphanet 73 C1866850
Orphanet 59 ORPHA2826
MedGen 42 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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
3 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
4 progressive spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007020
5 precocious puberty in males 59 32 frequent (33%) Frequent (79-30%) HP:0008185
6 hyperplasia of the leydig cells 59 32 frequent (33%) Frequent (79-30%) HP:0010791
7 precocious puberty 32 HP:0000826
8 intellectual disability 32 HP:0001249
9 abnormality of metabolism/homeostasis 32 HP:0001939
10 spastic paraplegia 32 HP:0001258

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
precocious puberty

Lab:
leydig cell hyperplasia

Neuro:
dysarthria
spastic paraplegia
mental retardation
brisk leg reflexes

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. 38 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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