MCID: SPS159
MIFTS: 28

Spastic Paraplegia 9b, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 9b, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 9b, Autosomal Recessive:

Name: Spastic Paraplegia 9b, Autosomal Recessive 57 75 29 6
Spg9b 57 12 75
Autosomal Recessive Complex Spastic Paraplegia Type 9b 12 59
Autosomal Recessive Spastic Paraplegia 9b 12
Hereditary Spastic Paraplegia 9b 12
Ar-Spg9b 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive complex spastic paraplegia type 9b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
two unrelated families have been reported (last curated october 2015)
onset in first decade (range 1 to 7 years)
no skin abnormalities


HPO:

32
spastic paraplegia 9b, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 9b, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 9B, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients.

MalaCards based summary : Spastic Paraplegia 9b, Autosomal Recessive, is also known as spg9b. An important gene associated with Spastic Paraplegia 9b, Autosomal Recessive is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include skin and skeletal muscle, and related phenotypes are spasticity and dysarthria

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1 gene on chromosome 10q24.

OMIM : 57 Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). (616586)

Related Diseases for Spastic Paraplegia 9b, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Symptoms & Phenotypes for Spastic Paraplegia 9b, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
spasticity
dysarthria
hyperreflexia
extensor plantar responses
more
Growth Height:
short stature

Growth Other:
growth retardation

Head And Neck Face:
dysmorphic facial features

Neurologic Peripheral Nervous System:
distal vibration sense (in some patients)

Head And Neck Head:
microcephaly

Genitourinary Bladder:
urinary retention
incontinence

Muscle Soft Tissue:
muscle atrophy

Head And Neck Eyes:
cataract (1 patient)


Clinical features from OMIM:

616586

Human phenotypes related to Spastic Paraplegia 9b, Autosomal Recessive:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 Very frequent (99-80%) HP:0001257
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
4 tetraplegia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002445
5 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
6 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
7 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999
8 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
9 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
10 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
11 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
12 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
13 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
14 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
15 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
16 corpus callosum atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007371
17 pollakisuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0100515
18 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
19 abnormality of the periventricular white matter 59 32 occasional (7.5%) Occasional (29-5%) HP:0002518
20 urinary retention 59 32 occasional (7.5%) Occasional (29-5%) HP:0000016
21 absent achilles reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0003438
22 hyperreflexia in upper limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007350
23 loss of speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002371
24 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
25 toe walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0040083
26 impaired vibration sensation at ankles 59 32 occasional (7.5%) Occasional (29-5%) HP:0006938
27 primitive reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0002476
28 impaired continence 59 32 frequent (33%) Frequent (79-30%) HP:0031064
29 intellectual disability 32 HP:0001249
30 gait disturbance 32 HP:0001288
31 tremor 32 occasional (7.5%) HP:0001337
32 hyperreflexia 32 HP:0001347
33 cataract 32 occasional (7.5%) HP:0000518
34 growth delay 59 Frequent (79-30%)
35 spastic paraplegia 32 HP:0001258
36 foot dorsiflexor weakness 32 occasional (7.5%) HP:0009027
37 pseudobulbar paralysis 32 occasional (7.5%) HP:0007024

Drugs & Therapeutics for Spastic Paraplegia 9b, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 9b, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 9b, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 9b, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 9b, Autosomal Recessive 29 ALDH18A1

Anatomical Context for Spastic Paraplegia 9b, Autosomal Recessive

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

41
Skin, Skeletal Muscle

Publications for Spastic Paraplegia 9b, Autosomal Recessive

Variations for Spastic Paraplegia 9b, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 9b, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 ALDH18A1 p.Arg128His VAR_075886 rs768323248
2 ALDH18A1 p.Leu637Pro VAR_075892 rs869320690
3 ALDH18A1 p.Asp715His VAR_075895 rs752669339

ClinVar genetic disease variations for Spastic Paraplegia 9b, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH18A1 NM_002860.3(ALDH18A1): c.2143G> C (p.Asp715His) single nucleotide variant Pathogenic rs752669339 GRCh38 Chromosome 10, 95610260: 95610260
2 ALDH18A1 NM_002860.3(ALDH18A1): c.2143G> C (p.Asp715His) single nucleotide variant Pathogenic rs752669339 GRCh37 Chromosome 10, 97370017: 97370017
3 ALDH18A1 NM_002860.3(ALDH18A1): c.1910T> C (p.Leu637Pro) single nucleotide variant Pathogenic rs869320690 GRCh37 Chromosome 10, 97373512: 97373512
4 ALDH18A1 NM_002860.3(ALDH18A1): c.1910T> C (p.Leu637Pro) single nucleotide variant Pathogenic rs869320690 GRCh38 Chromosome 10, 95613755: 95613755
5 ALDH18A1 NM_002860.3(ALDH18A1): c.383G> A (p.Arg128His) single nucleotide variant Uncertain significance rs768323248 GRCh38 Chromosome 10, 95637357: 95637357
6 ALDH18A1 NM_002860.3(ALDH18A1): c.383G> A (p.Arg128His) single nucleotide variant Uncertain significance rs768323248 GRCh37 Chromosome 10, 97397114: 97397114
7 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh37 Chromosome 10, 97371181: 97371181
8 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh38 Chromosome 10, 95611424: 95611424

Expression for Spastic Paraplegia 9b, Autosomal Recessive

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

Pathways for Spastic Paraplegia 9b, Autosomal Recessive

GO Terms for Spastic Paraplegia 9b, Autosomal Recessive

Sources for Spastic Paraplegia 9b, Autosomal Recessive

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