MCID: ATS405
MIFTS: 9

Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

MalaCards integrated aliases for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction:

Name: Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 60
Autosomal Recessive Complex Spg Due to Kennedy Pathway Dysfunction 60

Classifications:



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Orphanet 60 ORPHA506353

Summaries for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

MalaCards based summary : Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction, is also known as autosomal recessive complex spg due to kennedy pathway dysfunction. An important gene associated with Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction is SELENOI (Selenoprotein I). Related phenotypes are seizures and microcephaly

Related Diseases for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Symptoms & Phenotypes for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Human phenotypes related to Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction:

60 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 Frequent (79-30%)
2 microcephaly 60 Obligate (100%)
3 intellectual disability, mild 60 Frequent (79-30%)
4 cleft palate 60 Frequent (79-30%)
5 babinski sign 60 Frequent (79-30%)
6 reduced visual acuity 60 Frequent (79-30%)
7 retinal pigment epithelial mottling 60 Obligate (100%)
8 progressive spasticity 60 Obligate (100%)
9 bifid uvula 60 Frequent (79-30%)
10 ankle clonus 60 Obligate (100%)
11 progressive spastic paraplegia 60 Obligate (100%)
12 lower limb hyperreflexia 60 Obligate (100%)
13 delayed gross motor development 60 Obligate (100%)
14 upper motor neuron dysfunction 60 Occasional (29-5%)
15 functional motor deficit 60 Occasional (29-5%)
16 progressive spastic paraparesis 60 Obligate (100%)
17 moderately short stature 60 Obligate (100%)
18 tetraplegia/tetraparesis 60 Occasional (29-5%)
19 central retinal vessel vascular tortuosity 60 Frequent (79-30%)
20 demyelinating motor neuropathy 60 Frequent (79-30%)
21 nasal, dysarthic speech 60 Obligate (100%)
22 hyporeflective spaces on macular oct 60 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction

Genetic Tests for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Anatomical Context for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Publications for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Variations for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Expression for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Search GEO for disease gene expression data for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction.

Pathways for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

GO Terms for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

Sources for Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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