Spastic Tetraplegia and Axial Hypotonia, Progressive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618598

MeSH ⁴⁴ D011782

MedGen ⁴¹ C5231422 CN262331

SNOMED-CT via HPO ⁶⁸ 19557000 203541003 246586009 more

EFO ¹⁷ EFO_0010567

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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.

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Related Diseases for Spastic Tetraplegia and Axial Hypotonia, Progressive

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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)

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Drugs & Therapeutics for Spastic Tetraplegia and Axial Hypotonia, Progressive

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

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Genetic Tests for Spastic Tetraplegia and Axial Hypotonia, Progressive

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Anatomical Context for Spastic Tetraplegia and Axial Hypotonia, Progressive

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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	Park JH...Marquardt T	31332433	2019
2	Phenotype in an Infant with SOD1 Homozygous Truncating Mutation. ⁵⁷	Andersen PM...Santer R	31314961	2019
3	Relationship between role-play measures of coping skills and alcoholism treatment outcome. ⁶	Kadden RM...Busher DA	1332433	1992
4	Involvement of mu-opioid receptors in the antitussive effects of pentazocine. ⁶	Kamei J...Kasuya Y	1314961	1992
5	Microbial burden of some herbal antimalarials marketed at Elele, Rivers State. ⁶¹	Tatfeng YM...Ojo TO	21304626	2009

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Genes for Spastic Tetraplegia and Axial Hypotonia, Progressive

Genes related to Spastic Tetraplegia and Axial Hypotonia, Progressive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SOD1	Superoxide Dismutase 1	Protein Coding	918.05	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	1314961 1332433

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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

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Expression for Spastic Tetraplegia and Axial Hypotonia, Progressive

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

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Pathways for Spastic Tetraplegia and Axial Hypotonia, Progressive

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GO Terms for Spastic Tetraplegia and Axial Hypotonia, Progressive

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Sources for Spastic Tetraplegia and Axial Hypotonia, Progressive

¹ BioSystems

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⁸ Cochrane Library

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spastic Tetraplegia and Axial Hypotonia, Progressive (STAHP)

Aliases & Classifications for Spastic Tetraplegia and Axial Hypotonia, Progressive

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spastic Tetraplegia and Axial Hypotonia, Progressive

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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Genes for Spastic Tetraplegia and Axial Hypotonia, Progressive

Genes related to Spastic Tetraplegia and Axial Hypotonia, Progressive (1 elite genes):

Variations for Spastic Tetraplegia and Axial Hypotonia, Progressive

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

Expression 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