MCID: SPS192
MIFTS: 19

Spastic Paraparesis and Deafness

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spastic Paraparesis and Deafness

MalaCards integrated aliases for Spastic Paraparesis and Deafness:

Name: Spastic Paraparesis and Deafness 57
Wells-Jankovic Syndrome 20 58
Familial Spastic Paraparesis and Deafness 20
Spastic Paraparesis-Hearing Loss Syndrome 58
Spastic Paraparesis-Deafness Syndrome 58
Spastic Paraparesis - Deafness 20
Wells Jankovic Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
spastic paraparesis-deafness syndrome
Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked


HPO:

31
spastic paraparesis and deafness:
Inheritance x-linked inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 312910
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C2931291
Orphanet 58 ORPHA2815
MedGen 41 C2931291
UMLS 71 C2931291

Summaries for Spastic Paraparesis and Deafness

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2815DefinitionA rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spastic Paraparesis and Deafness, also known as wells-jankovic syndrome, is related to branchiootic syndrome 1 and hypogonadism, and has symptoms including muscle spasticity Related phenotypes are hyperreflexia and gait disturbance

More information from OMIM: 312910

Related Diseases for Spastic Paraparesis and Deafness

Diseases related to Spastic Paraparesis and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.1
2 hypogonadism 10.1
3 adrenomyeloneuropathy 10.1
4 spastic paraparesis 10.1
5 tremor 10.1

Graphical network of the top 20 diseases related to Spastic Paraparesis and Deafness:



Diseases related to Spastic Paraparesis and Deafness

Symptoms & Phenotypes for Spastic Paraparesis and Deafness

Human phenotypes related to Spastic Paraparesis and Deafness:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
5 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
6 spastic paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002313
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
11 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
12 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
13 tremor 31 HP:0001337
14 hearing impairment 31 HP:0000365
15 abnormality of movement 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neuro:
tremor
spastic paraparesis

Endocrine:
hypogonadism

Eyes:
cataracts

Lab:
normal values for very-long-chain fatty acids

Growth:
short stature

Ears:
deafness

Misc:
onset about age 10 years

Clinical features from OMIM®:

312910 (Updated 05-Mar-2021)

UMLS symptoms related to Spastic Paraparesis and Deafness:


muscle spasticity

Drugs & Therapeutics for Spastic Paraparesis and Deafness

Search Clinical Trials , NIH Clinical Center for Spastic Paraparesis and Deafness

Genetic Tests for Spastic Paraparesis and Deafness

Anatomical Context for Spastic Paraparesis and Deafness

Publications for Spastic Paraparesis and Deafness

Articles related to Spastic Paraparesis and Deafness:

# Title Authors PMID Year
1
Familial spastic paraparesis and deafness. A new x-linked neurodegenerative disorder. 57 61
3741213 1986

Variations for Spastic Paraparesis and Deafness

Expression for Spastic Paraparesis and Deafness

Search GEO for disease gene expression data for Spastic Paraparesis and Deafness.

Pathways for Spastic Paraparesis and Deafness

GO Terms for Spastic Paraparesis and Deafness

Sources for Spastic Paraparesis and Deafness

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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