Spastic Ataxia 9, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spastic Ataxia 9, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 9, Autosomal Recessive:

Name: Spastic Ataxia 9, Autosomal Recessive ⁵⁶ ⁷³ ²⁹ ⁶

Spax9 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in the first decade
one consanguineous family has been reported (last curated may 2019)

HPO:

³¹

spastic ataxia 9, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618438

OMIM Phenotypic Series ⁵⁶ PS108600

MeSH ⁴³ D002524 D015419

MedGen ⁴¹ C5193100 CN258762

SNOMED-CT via HPO ⁶⁸ 122481008 123983008 13164000 more

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Summaries for Spastic Ataxia 9, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷³ Spastic ataxia 9, autosomal recessive: An autosomal recessive disorder characterized by onset of spastic ataxia in the first years of life. Clinical features include motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, slow ocular saccades, axial hypotonia, distal muscle weakness and atrophy, and pyramidal symptoms, including hyperreflexia and extensor plantar responses.

MalaCards based summary : Spastic Ataxia 9, Autosomal Recessive, is also known as spax9. An important gene associated with Spastic Ataxia 9, Autosomal Recessive is CHP1 (Calcineurin Like EF-Hand Protein 1). Affiliated tissues include eye and bone, and related phenotypes are cerebellar vermis atrophy and spasticity

More information from OMIM: 618438 PS108600

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Related Diseases for Spastic Ataxia 9, Autosomal Recessive

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant	Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive	Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive	Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 9, Autosomal Recessive	Spastic Ataxia 1
Spastic Ataxia 2	Spastic Ataxia 3
Spastic Ataxia 4	Spastic Ataxia 5
Spastic Ataxia 7	Spastic Ataxia 8
Autosomal Dominant Spastic Ataxia	Autosomal Recessive Spastic Ataxia

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Symptoms & Phenotypes for Spastic Ataxia 9, Autosomal Recessive

Human phenotypes related to Spastic Ataxia 9, Autosomal Recessive:

³¹ (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	cerebellar vermis atrophy ³¹	very rare (1%)	HP:0006855
2	spasticity ³¹		HP:0001257
3	hyperreflexia ³¹		HP:0001347
4	ataxia ³¹		HP:0001251
5	delayed skeletal maturation ³¹		HP:0002750
6	growth delay ³¹		HP:0001510
7	babinski sign ³¹		HP:0003487
8	pes cavus ³¹		HP:0001761
9	reduced visual acuity ³¹		HP:0007663
10	distal amyotrophy ³¹		HP:0003693
11	frequent falls ³¹		HP:0002359
12	hammertoe ³¹		HP:0001765
13	distal muscle weakness ³¹		HP:0002460
14	slow saccadic eye movements ³¹		HP:0000514
15	muscular hypotonia of the trunk ³¹		HP:0008936
16	limited extraocular movements ³¹		HP:0007941

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
spasticity
hyperreflexia
frequent falls
cerebellar ataxia
pyramidal signs
more

Muscle Soft Tissue:
distal muscle weakness
distal muscle atrophy
axial hypotonia

Growth Other:
growth retardation

Neurologic Peripheral Nervous System:
impaired vibration sense, distal (in some patients)
motor neuropathy (in some patients)

Skeletal Feet:
pes cavus
hammertoes

Head And Neck Eyes:
limited extraocular movements
slow saccades
decreased visual acuity
gaze palsy

Skeletal:
delayed bone age

Clinical features from OMIM:

618438

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Drugs & Therapeutics for Spastic Ataxia 9, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 9, Autosomal Recessive

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Genetic Tests for Spastic Ataxia 9, Autosomal Recessive

Genetic tests related to Spastic Ataxia 9, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spastic Ataxia 9, Autosomal Recessive ²⁹	CHP1

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Anatomical Context for Spastic Ataxia 9, Autosomal Recessive

MalaCards organs/tissues related to Spastic Ataxia 9, Autosomal Recessive:

⁴⁰

Eye, Bone

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Publications for Spastic Ataxia 9, Autosomal Recessive

Articles related to Spastic Ataxia 9, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. ⁵⁶ ⁶	Mendoza-Ferreira N...Wirth B	29379881	2018
2	Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. ⁵⁶	Tsuiko O...Kurg A	27301361	2016
3	CHP1-mediated NHE1 biosynthetic maturation is required for Purkinje cell axon homeostasis. ⁵⁶	Liu Y...Ackerman SL	23904602	2013

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Genes for Spastic Ataxia 9, Autosomal Recessive

Genes related to Spastic Ataxia 9, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHP1	Calcineurin Like EF-Hand Protein 1	Protein Coding	1057.71	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Variants (show sections)	29379881

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Variations for Spastic Ataxia 9, Autosomal Recessive

ClinVar genetic disease variations for Spastic Ataxia 9, Autosomal Recessive:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CHP1	NM_007236.5(CHP1):c.52_54AAG[1] (p.Lys19del)	short repeat	Pathogenic	632545	rs1310569366	15:41523632-41523634	15:41231434-41231436

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Expression for Spastic Ataxia 9, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Ataxia 9, Autosomal Recessive.

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Pathways for Spastic Ataxia 9, Autosomal Recessive

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GO Terms for Spastic Ataxia 9, Autosomal Recessive

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Sources for Spastic Ataxia 9, Autosomal Recessive

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spastic Ataxia 9, Autosomal Recessive (SPAX9)

Aliases & Classifications for Spastic Ataxia 9, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 9, Autosomal Recessive:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Ataxia 9, Autosomal Recessive

Related Diseases for Spastic Ataxia 9, Autosomal Recessive

Diseases in the Spastic Ataxia family:

Symptoms & Phenotypes for Spastic Ataxia 9, Autosomal Recessive

Human phenotypes related to Spastic Ataxia 9, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spastic Ataxia 9, Autosomal Recessive

Genetic Tests for Spastic Ataxia 9, Autosomal Recessive

Genetic tests related to Spastic Ataxia 9, Autosomal Recessive:

Anatomical Context for Spastic Ataxia 9, Autosomal Recessive

MalaCards organs/tissues related to Spastic Ataxia 9, Autosomal Recessive:

Publications for Spastic Ataxia 9, Autosomal Recessive

Articles related to Spastic Ataxia 9, Autosomal Recessive:

Genes for Spastic Ataxia 9, Autosomal Recessive

Genes related to Spastic Ataxia 9, Autosomal Recessive (1 elite genes):

Variations for Spastic Ataxia 9, Autosomal Recessive

ClinVar genetic disease variations for Spastic Ataxia 9, Autosomal Recessive:

Expression for Spastic Ataxia 9, Autosomal Recessive

Pathways for Spastic Ataxia 9, Autosomal Recessive

GO Terms for Spastic Ataxia 9, Autosomal Recessive

Sources for Spastic Ataxia 9, Autosomal Recessive