SPAX9
MCID: SPS233
MIFTS: 19

Spastic Ataxia 9, Autosomal Recessive (SPAX9)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 9, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 9, Autosomal Recessive:

Name: Spastic Ataxia 9, Autosomal Recessive 57 74 29 6
Spax9 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

MedGen 42 CN258762

Summaries for Spastic Ataxia 9, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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 bone.

More information from OMIM: 618438 PS108600

Related Diseases for Spastic Ataxia 9, Autosomal Recessive

Symptoms & Phenotypes for Spastic Ataxia 9, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Spastic Ataxia 9, Autosomal Recessive

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

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

Anatomical Context for Spastic Ataxia 9, Autosomal Recessive

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

41
Bone

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. 8 71
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. 8
27301361 2016
3
CHP1-mediated NHE1 biosynthetic maturation is required for Purkinje cell axon homeostasis. 8
23904602 2013

Variations for Spastic Ataxia 9, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHP1 NM_007236.5(CHP1): c.52_54AAG[1] (p.Lys19del) short repeat Pathogenic 15:41523632-41523634 15:41231434-41231436

Expression for Spastic Ataxia 9, Autosomal Recessive

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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