SPAX9
MCID: SPS233
MIFTS: 21

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 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:



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

Related Diseases for Spastic Ataxia 9, Autosomal Recessive

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

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:

40
Eye, 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. 56 6
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
27301361 2016
3
CHP1-mediated NHE1 biosynthetic maturation is required for Purkinje cell axon homeostasis. 56
23904602 2013

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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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