STAHP
MCID: SPS236
MIFTS: 15

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 56 73 6
Sod1 Deficiency, Autosomal Recessive 56 73
Stahp 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 56 618598
MeSH 43 D011782
MedGen 41 CN262331

Summaries for Spastic Tetraplegia and Axial Hypotonia, Progressive

OMIM : 56 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)

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).

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

Symptoms via clinical synopsis from OMIM:

56
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

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. 56 6
31332433 2019
2
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation. 56 6
31314961 2019
3
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 Likely pathogenic 624202 rs1568810771 21:33039665-33039666 21:31667352-31667353

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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