STAHP
MCID: SPS236
MIFTS: 19

Spastic Tetraplegia and Axial Hypotonia, Progressive (STAHP)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Spastic Tetraplegia and Axial Hypotonia, Progressive

MalaCards integrated aliases for Spastic Tetraplegia and Axial Hypotonia, Progressive:

Name: Spastic Tetraplegia and Axial Hypotonia, Progressive 57 73 6 17
Sod1 Deficiency, Autosomal Recessive 57 73
Stahp 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the first year of life
two unrelated patients have been reported (last curated september 2019)


HPO:

31
spastic tetraplegia and axial hypotonia, progressive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Tetraplegia and Axial Hypotonia, Progressive

OMIM® : 57 Progressive spastic tetraplegia and axial hypotonia (STAHP) is an autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected, but only 2 unrelated patients have been reported (Andersen et al., 2019; Park et al., 2019). (618598) (Updated 05-Mar-2021)

MalaCards based summary : Spastic Tetraplegia and Axial Hypotonia, Progressive, is also known as sod1 deficiency, autosomal recessive. An important gene associated with Spastic Tetraplegia and Axial Hypotonia, Progressive is SOD1 (Superoxide Dismutase 1). Related phenotypes are ataxia and absent speech

UniProtKB/Swiss-Prot : 73 Spastic tetraplegia and axial hypotonia, progressive: An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected.

Related Diseases for Spastic Tetraplegia and Axial Hypotonia, Progressive

Symptoms & Phenotypes for Spastic Tetraplegia and Axial Hypotonia, Progressive

Human phenotypes related to Spastic Tetraplegia and Axial Hypotonia, Progressive:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 absent speech 31 very rare (1%) HP:0001344
3 low-set, posteriorly rotated ears 31 very rare (1%) HP:0000368
4 increased serum lactate 31 very rare (1%) HP:0002151
5 fasciculations 31 very rare (1%) HP:0002380
6 babinski sign 31 very rare (1%) HP:0003487
7 cerebellar atrophy 31 very rare (1%) HP:0001272
8 spastic tetraparesis 31 very rare (1%) HP:0001285
9 lower limb spasticity 31 very rare (1%) HP:0002061
10 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
11 ankle clonus 31 very rare (1%) HP:0011448
12 overlapping toe 31 very rare (1%) HP:0001845
13 exaggerated startle response 31 very rare (1%) HP:0002267
14 myokymia 31 very rare (1%) HP:0002411

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
spastic tetraplegia
absent speech
inability to walk
more
Head And Neck Ears:
low-set ears (1 patient)
posteriorly rotated ears (1 patient)

Laboratory Abnormalities:
increased serum lactate (1 patient)

Muscle Soft Tissue:
fasciculations
limb hypertonia
myokymia
axial hypotonia

Skeletal Feet:
overlapping toes (1 patient)

Clinical features from OMIM®:

618598 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spastic Tetraplegia and Axial Hypotonia, Progressive

Search Clinical Trials , NIH Clinical Center for Spastic Tetraplegia and Axial Hypotonia, Progressive

Genetic Tests for Spastic Tetraplegia and Axial Hypotonia, Progressive

Anatomical Context for Spastic Tetraplegia and Axial Hypotonia, Progressive

Publications for Spastic Tetraplegia and Axial Hypotonia, Progressive

Articles related to Spastic Tetraplegia and Axial Hypotonia, Progressive:

# Title Authors PMID Year
1
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis. 57
31332433 2019
2
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation. 57
31314961 2019
3
Relationship between role-play measures of coping skills and alcoholism treatment outcome. 6
1332433 1992
4
Involvement of mu-opioid receptors in the antitussive effects of pentazocine. 6
1314961 1992
5
Microbial burden of some herbal antimalarials marketed at Elele, Rivers State. 61
21304626 2009

Variations for Spastic Tetraplegia and Axial Hypotonia, Progressive

ClinVar genetic disease variations for Spastic Tetraplegia and Axial Hypotonia, Progressive:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOD1 NM_000454.4(SOD1):c.335dup (p.Cys112fs) Duplication Pathogenic 624202 rs1568810771 21:33039665-33039666 21:31667352-31667353
2 SOD1 NM_000454.5(SOD1):c.256G>A (p.Gly86Ser) SNV Pathogenic 932081 21:33039587-33039587 21:31667274-31667274
3 SOD1 NM_000454.5(SOD1):c.95T>C (p.Val32Ala) SNV Uncertain significance 873196 21:33036125-33036125 21:31663812-31663812

Expression for Spastic Tetraplegia and Axial Hypotonia, Progressive

Search GEO for disease gene expression data for Spastic Tetraplegia and Axial Hypotonia, Progressive.

Pathways for Spastic Tetraplegia and Axial Hypotonia, Progressive

GO Terms for Spastic Tetraplegia and Axial Hypotonia, Progressive

Sources for Spastic Tetraplegia and Axial Hypotonia, Progressive

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
Content
Loading form....