MCID: KYP007
MIFTS: 13

Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

MalaCards integrated aliases for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome:

Name: Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome 60
Kyphoscoliosis-Lateral Tongue Atrophy-Hsp Syndrome 60

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

MalaCards based summary : Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome, is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome. An important gene associated with Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome is KY (Kyphoscoliosis Peptidase). Affiliated tissues include tongue, and related phenotypes are proximal muscle weakness in upper limbs and toe walking

Related Diseases for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Symptoms & Phenotypes for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Human phenotypes related to Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proximal muscle weakness in upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008997
2 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
3 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
4 kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002751
5 pain 60 33 frequent (33%) Frequent (79-30%) HP:0012531
6 progressive spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0007020
7 lower limb hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0002395
8 difficulty running 60 33 frequent (33%) Frequent (79-30%) HP:0009046
9 delayed gross motor development 60 33 frequent (33%) Frequent (79-30%) HP:0002194
10 lower limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007210
11 difficulty standing 60 33 frequent (33%) Frequent (79-30%) HP:0003698
12 tongue atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012473
13 upper limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009129
14 muscle spasm 33 frequent (33%) HP:0003394
15 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
16 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
17 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
18 knee flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0006380
19 abnormal levels of creatine kinase in blood 60 Excluded (0%)
20 muscle cramps 60 Frequent (79-30%)
21 cerebellar atrophy 60 Excluded (0%)
22 lower limb spasticity 60 Frequent (79-30%)
23 cerebral atrophy 60 Excluded (0%)

Drugs & Therapeutics for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Search Clinical Trials , NIH Clinical Center for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome

Genetic Tests for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Anatomical Context for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

MalaCards organs/tissues related to Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome:

42
Tongue

Publications for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Variations for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Expression for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Search GEO for disease gene expression data for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome.

Pathways for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

GO Terms for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

Sources for Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic...

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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