SPG35
MCID: SPS153
MIFTS: 57

Spastic Paraplegia 35, Autosomal Recessive (SPG35)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 35, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 35, Autosomal Recessive:

Name: Spastic Paraplegia 35, Autosomal Recessive 56 52 73 13
Fatty Acid Hydroxylase-Associated Neurodegeneration 56 12 24 52 25 58 73 71
Fahn 56 12 52 25 58 73
Spg35 56 12 52 58 73
Leukodystrophy, Dysmyelinating, and Spastic Paraparesis with or Without Dystonia 56 52 71
Spastic Paraplegia 35 25 29 6
Autosomal Recessive Spastic Paraplegia Type 35 12 58
Hereditary Spastic Paraplegia 35 12 15
Leukodystrophy, Dysmyelinating and Spastic Paraparesis with or Without Dystonia 12
Leukodystrophy Dysmyelinating and Spastic Paraparesis with or Without Dystonia 73
Fatty Acid Hydroxylase-Associated Neurodegeneration; Fahn 56
Dysmyelinating Leukodystrophy and Spastic Paraparesis 25
Paraplegia, Spastic, Autosomal Recessive, Type 35 39
Autosomal Recessive Spastic Paraplegia 35 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 35
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adolescent,adult;
fatty acid hydroxylase-associated neurodegeneration
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset between 3 and 11 years of age
most patients become wheelchair-bound in adolescence or as young adults


HPO:

31
spastic paraplegia 35, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Spastic Paraplegia 35, Autosomal Recessive

Genetics Home Reference : 25 Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence. Changes in the way a person walks (gait) and frequent falls are usually the first noticeable signs of FAHN. Affected individuals gradually develop extreme muscle stiffness (spasticity) and exaggerated reflexes. They typically have involuntary muscle cramping (dystonia), problems with coordination and balance (ataxia), or both. The movement problems worsen over time, and some people with this condition eventually require wheelchair assistance. People with FAHN often develop vision problems, which occur due to deterioration (atrophy) of the nerves that carry information from the eyes to the brain (the optic nerves) and difficulties with the muscles that control eye movement. Affected individuals may have a loss of sharp vision (reduced visual acuity), decreased field of vision, impaired color perception, eyes that do not look in the same direction (strabismus), rapid involuntary eye movements (nystagmus), or difficulty moving the eyes intentionally (supranuclear gaze palsy). Speech impairment (dysarthria) also occurs in FAHN, and severely affected individuals may lose the ability to speak. People with this disorder may also have difficulty chewing or swallowing (dysphagia). In severe cases, they may develop malnutrition and require a feeding tube. The swallowing difficulties can lead to a bacterial lung infection called aspiration pneumonia, which can be life-threatening. As the disorder progresses, some affected individuals experience seizures and a decline in intellectual function. Magnetic resonance imaging (MRI) of the brain in people with FAHN shows signs of iron accumulation, especially in an area of the brain called the globus pallidus, which is involved in regulating movement. Similar patterns of iron accumulation are seen in certain other neurological disorders such as infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration. All these conditions belong to a class of disorders called neurodegeneration with brain iron accumulation (NBIA).

MalaCards based summary : Spastic Paraplegia 35, Autosomal Recessive, also known as fatty acid hydroxylase-associated neurodegeneration, is related to movement disease and mast syndrome, and has symptoms including seizures, ataxia and urgency of micturition. An important gene associated with Spastic Paraplegia 35, Autosomal Recessive is FA2H (Fatty Acid 2-Hydroxylase), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. The drugs rimabotulinumtoxinB and Piracetam have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and eye, and related phenotypes are mental deterioration and spastic paraplegia

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the FA2H gene on chromosome 16q23.1.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 329308 Definition Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia , progressive spastic paraplegia that progresses to tetra paresis, ataxia , dysarthria , intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. Visit the Orphanet disease page for more resources.

OMIM : 56 Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by Dick et al., 2010). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. Kruer et al. (2010) referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (612319)

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 35, 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. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur.

GeneReviews: NBK56080

Related Diseases for Spastic Paraplegia 35, 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, Autosomal Recessive 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 Dominant
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 Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Hereditary Spastic Paraplegia Spastic Paraplegia 4
Spastic Paraplegia 8 Spastic Paraplegia 11
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 32 Spastic Paraplegia 39
Spastic Paraplegia 47 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
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 Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 35, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 movement disease 30.7 PLA2G6 PANK2 ATP13A2
2 mast syndrome 30.3 SPG21 SPG11
3 spastic paraparesis 30.3 SPG7 SPG11 FA2H
4 spastic paraplegia 11, autosomal recessive 30.2 SPG7 SPG21 SPG11 AP5Z1
5 axonal neuropathy 30.2 ZFYVE26 SPG11 C19orf12
6 spastic paraplegia 7, autosomal recessive 29.9 SPG7 PNPLA6
7 spasticity 29.7 WASHC5 SPG7 REEP1
8 neurodegeneration with brain iron accumulation 29.1 WDR45 SPG11 PLA2G6 PANK2 FA2H DCAF17
9 dystonia 28.9 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
10 spastic paraplegia 54, autosomal recessive 28.2 SPG7 SPG21 SPG11 REEP1 PNPLA6 FA2H
11 spastic paraplegia 48, autosomal recessive 28.2 ZFYVE26 WASHC5 SPG21 SPG11 REEP1 FA2H
12 spastic paraplegia 15, autosomal recessive 27.0 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
13 paraplegia 26.1 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
14 hereditary spastic paraplegia 25.7 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
15 mitochondrial membrane protein-associated neurodegeneration 11.6
16 essential tremor 10.5
17 tremor 10.5
18 spastic paraplegia 64, autosomal recessive 10.4 SPG21 SPG11
19 spastic paraplegia 14, autosomal recessive 10.3 SPG21 SPG11
20 amyotrophic lateral sclerosis 1 10.3
21 lateral sclerosis 10.3
22 alacrima, achalasia, and mental retardation syndrome 10.2
23 spastic paraplegia 15 10.2
24 oromandibular dystonia 10.2 PLA2G6 PANK2 C19orf12
25 alcohol-related neurodevelopmental disorder 10.2 WDR45 C19orf12
26 cerebral degeneration 10.2 PLA2G6 PANK2 FA2H
27 spastic paraplegia 45, autosomal recessive 10.2 SPG21 SPG11 DDHD2
28 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
29 3-methylglutaconic aciduria, type iii 10.1
30 ataxia and polyneuropathy, adult-onset 10.1
31 parkinson disease, late-onset 10.1
32 segmental dystonia 10.1
33 cerebral palsy 10.1
34 isolated dystonia 10.1
35 generalized isolated dystonia 10.1
36 leukodystrophy 10.1
37 neuropathy 10.1
38 juvenile amyotrophic lateral sclerosis 10.1 SPG11 C19orf12
39 spastic paraplegia 27, autosomal recessive 10.1 SPG21 REEP1
40 spastic paraplegia 55, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
41 spastic paraplegia 53, autosomal recessive 10.1 WASHC5 AP5Z1
42 spastic paraplegia 5a 10.0 CYP7B1 C19orf12
43 amyotrophic lateral sclerosis type 5 10.0 ZFYVE26 SPG11 AP5Z1
44 spastic paraplegia 57, autosomal recessive 10.0 SPG11 REEP1
45 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.0 PNPLA6 DDHD2
46 early-onset parkinson's disease 10.0 PLA2G6 PANK2 C19orf12 ATP13A2
47 spastic paraplegia, optic atrophy, and neuropathy 10.0 WASHC5 AP5Z1
48 spastic paraplegia 76, autosomal recessive 9.9 SPG11 PNPLA6 ATP13A2
49 hereditary spastic paraplegia 51 9.9 ZFYVE26 SPG21 SPG11 AP5Z1
50 spastic paraplegia 52, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 AP5Z1

Graphical network of the top 20 diseases related to Spastic Paraplegia 35, Autosomal Recessive:



Diseases related to Spastic Paraplegia 35, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 35, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 35, Autosomal Recessive:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mental deterioration 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001268
2 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
3 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
4 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
5 progressive gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007240
6 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
7 foot dorsiflexor weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009027
8 falls 58 31 hallmark (90%) Very frequent (99-80%) HP:0002527
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
10 optic atrophy 58 31 very rare (1%) Very rare (<4-1%),Frequent (79-30%) HP:0000648
11 dysarthria 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001260
12 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
13 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
14 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001272
15 generalized dystonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0007325
16 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002079
17 progressive spastic quadriplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002478
18 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
19 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
20 loss of ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0006957
21 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
22 anarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002425
23 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
24 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
25 ankle clonus 58 31 occasional (7.5%) Frequent (79-30%) HP:0011448
26 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
27 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
28 atrophy of the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0006827
29 corpus callosum atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007371
30 progressive extrapyramidal movement disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007153
31 supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000605
32 slow decrease in visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007924
33 motor aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002427
34 progressive spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0007199
35 lower limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0006895
36 color vision test abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0030584
37 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
38 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
39 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
40 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
41 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
42 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
43 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
44 pollakisuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100515
45 positional foot deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005656
46 neck muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000467
47 pontocerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006879
48 enuresis nocturna 58 31 occasional (7.5%) Occasional (29-5%) HP:0010677
49 peripheral demyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0011096
50 focal seizures, afebril 58 31 occasional (7.5%) Occasional (29-5%) HP:0040168

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
hyperreflexia
dysarthria
dysmetria
more
Genitourinary Bladder:
urinary urgency
urinary incontinence (variable)

Head And Neck Eyes:
optic atrophy
nystagmus
strabismus
external ophthalmoplegia (less common)

Clinical features from OMIM:

612319

UMLS symptoms related to Spastic Paraplegia 35, Autosomal Recessive:


seizures, ataxia, urgency of micturition

MGI Mouse Phenotypes related to Spastic Paraplegia 35, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ATP13A2 DDHD2 FA2H PANK2 PLA2G6 PNPLA6
2 cellular MP:0005384 9.65 ATP13A2 DCAF17 PANK2 PLA2G6 PNPLA6 REEP1
3 nervous system MP:0003631 9.4 ATP13A2 DDHD2 FA2H PANK2 PLA2G6 PNPLA6

Drugs & Therapeutics for Spastic Paraplegia 35, Autosomal Recessive

Drugs for Spastic Paraplegia 35, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 rimabotulinumtoxinB Phase 4
2
Piracetam Approved, Investigational Phase 3 7491-74-9
3
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
4
Pancrelipase Approved, Investigational Phase 2, Phase 3 53608-75-6
5 Neuroprotective Agents Phase 3
6 Protective Agents Phase 3
7 Botulinum Toxins Phase 3
8 abobotulinumtoxinA Phase 3
9 Botulinum Toxins, Type A Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3
11 Immunologic Factors Phase 2, Phase 3
12 Calcineurin Inhibitors Phase 2, Phase 3
13 pancreatin Phase 2, Phase 3
14
Amlodipine Approved Phase 2 88150-42-9 2162
15
Histamine Approved, Investigational Phase 2 51-45-6 774
16
Famotidine Approved Phase 2 76824-35-6 3325
17
Levetiracetam Approved Phase 2 102767-28-2 441341
18
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
19
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
20
Deferiprone Approved Phase 2 30652-11-0 2972
21
Carbon monoxide Approved, Investigational Phase 1, Phase 2 630-08-0 281
22
Levodopa Approved Phase 2 59-92-7 6047
23
Topiramate Approved Phase 2 97240-79-4 5284627
24 Hormones Phase 2
25 Calcium, Dietary Phase 2
26 calcium channel blockers Phase 2
27 Antihypertensive Agents Phase 2
28 Vasodilator Agents Phase 2
29 Antacids Phase 2
30 Anti-Ulcer Agents Phase 2
31 Histamine Antagonists Phase 2
32
Histamine Phosphate Phase 2 51-74-1 65513
33 Histamine H2 Antagonists Phase 2
34 Gastrointestinal Agents Phase 2
35 Neurotransmitter Agents Phase 2
36 Cholinergic Agents Phase 2
37 incobotulinumtoxinA Phase 2
38 Pharmaceutical Solutions Phase 2
39 Chelating Agents Phase 2
40 Iron Chelating Agents Phase 2
41 Anticonvulsants Phase 2
42 Hypoglycemic Agents Phase 2
43
Calcium Nutraceutical Phase 2 7440-70-2 271
44
Baclofen Approved 1134-47-0 2284
45
Zonisamide Approved, Investigational 68291-97-4 5734
46 GABA Agonists

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
2 Therapeutic Use of Piracetam for Treatment of Patients Suffering From Tardive Dyskinesia: a Double Blind, Placebo-Controlled Crossover Study Completed NCT00190008 Phase 3 piracetam
3 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor by a Multi-center, Randomized, Double-Blind, Parallel-group, Placebo-controlled Study Recruiting NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
4 Conversion From Immediate Release Tacrolimus to Envarsus XR® in Simultaneous Pancreas-Kidney Recipients: Assessment of Functional, Safety and Quality of Life Outcomes (CIRTEN SPK) Suspended NCT03769298 Phase 2, Phase 3 Envarsus XR
5 Trial of Amlodipine Combined With Botulinum Toxin Injections for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
6 A Randomized, Double-Blind, Placebo-Controlled, Cross-Over, Safety, Tolerability and Proof of Concept Study of ST101 for Essential Tremor Completed NCT01332695 Phase 2 ST101;Placebo
7 An 'N-of-1' Study of the Histamine H@ Antagonist, Famotidine in Levodopa-induced Dyskinesia in Parkinson's Disease Completed NCT01937078 Phase 2 Famotidine
8 A Randomized, Double Blind, Placebo-Controlled, Crossover, Proof of Concept Study to Evaluate the Effectiveness and Safety of Carisbamate in the Treatment of Essential Tremor Completed NCT00524056 Phase 2 Carisbamate;Placebo
9 Efficacy of Levetiracetam in Oromandibular and Cranial Dystonia: A Randomized, Double-Blind Placebo-Controlled Cross-Over Study Completed NCT02199509 Phase 2 Levetiracetam
10 Deep Brain Stimulation of the Globus Pallidus Interna or the Subthalamic Nucleus for Treatment of Generalized Primary Dystonia Completed NCT00105430 Phase 2
11 Motor Training as Treatment of Focal Hand Dystonia Completed NCT00021853 Phase 2
12 “DOES MYOBLOC™ IMPROVE FUNCTIONAL HAND USE IN YOUNG CHILDREN WITH A HYPERTONIC UPPER EXTREMITY?” Completed NCT00238641 Phase 1, Phase 2 Botulinum Toxin type B
13 Deep Brain Stimulation Surgery for Treatment of Focal Hand Dystonia Recruiting NCT02911103 Phase 1, Phase 2
14 Use of Kinematic Assessment of Hand Tremor Pre- and Post- Treatment With Botulinum Toxin Type A in Essential Tremor and Parkinson Disease Active, not recruiting NCT02427646 Phase 2 BoNT-A
15 Ferrochelating Treatment in Patients Affected by "Neurodegeneration With Brain Iron Accumulation" (NBIA) Active, not recruiting NCT00907283 Phase 2 Deferiprone
16 Hyperbaric Oxygen for Carbon Monoxide Induced Chronic Encephalopathy Not yet recruiting NCT04118491 Phase 1, Phase 2
17 Anti-Dyskinetic Properties of Topiramate: A Double-Blind, Placebo-Controlled Trial in Patients With Parkinson's Disease and Levodopa-Induced Dyskinesias Terminated NCT00296959 Phase 2 topiramate (drug)
18 The Study of Rest Tremor Suppression by Using Electrical Muscle Stimulation Unknown status NCT02370108 Phase 1
19 A Phase 1 Open-Label Dose Escalation Safety Study of Convection Enhanced Delivery (CED) of Adeno-Associated Virus Encoding Glial Cell Line-Derived Neurotrophic Factor (AAV2-GDNF) in Subjects With Advanced Parkinson's Disease Active, not recruiting NCT01621581 Phase 1
20 Subthalamic Deep Brain Stimulation in Patients With Medication-Refractory Primary Cranial-Cervical Dystonia: A Randomised, Sham-controlled Trial Unknown status NCT02583074
21 Subthalamic Nucleus (STN) and Globus Pallidus Internus (GPi) Deep Brain Stimulation (DBS) in Patients With Primary Dystonia(RELAX Study) Unknown status NCT03017586
22 Survey of Sensory and Motor Tricks in Focal Dystonia Completed NCT00054652
23 Comparative Study Between the Functional Outcomes of Neuromodulation and Neuroablation Techniques for Treatment of Secondary Dystonia Completed NCT03347240
24 Sensory Training for Treatment of Focal Dystonia Completed NCT00006336
25 Assessing Clinical Effectiveness of Cerebellar Repetitive Transcranial Magnetic Stimulation (rTMS) on Severity of Motor Signs of Essential Tremor Completed NCT02704793
26 Novel Stimulation Patterns and Personalized Deep Brain Stimulation for the Treatment of Dystonia Completed NCT02468843
27 Functional Connectivity of the Basal Ganglia in Primary Focal Dystonia Completed NCT01761903
28 Treatment for Psychogenic Movement Disorders Completed NCT00314444
29 Physical Training Induced Plasticity of Motor Control Mechanisms in Parkinson's Disease Patients Completed NCT03753503
30 Exercise Training in Dystonia and Other Involuntary Movement Disorders Recruiting NCT03318120
31 Probabilistic Determination of the Ventro-intermediate Nucleus of the Thalamus (VIM) Coordinates From Radio-anatomical Landmarks on 1.5 Tesla MRI Recruiting NCT03696420
32 Optimization of VIM Targeting in Essential Tremor Surgery Recruiting NCT03760406
33 Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes Recruiting NCT03428009
34 Deep Brain Stimulation Surgery for Movement Disorders Recruiting NCT01581580
35 Deep Brain Stimulation Therapy in Movement Disorders Recruiting NCT02119611
36 RAD 1601: Pilot Trial of Frameless Virtual Cone Stereotactic Radiosurgical Thalamotomy for Intractable Tremor and Advanced Functional Connectivity Parcellation of the Thalamus Recruiting NCT03305588
37 Deep Brain Frameless Radiosurgery for Drug Resistant Invalidating Tremor. Dose Escalation Pilot Study Recruiting NCT02585583
38 Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology Enrolling by invitation NCT03409120
39 Deep Brain Stimulation in Disabling Action Tremor: A Randomized, Double-blind Study Comparing the Ventral Intermediate Nucleus (VIM) of the Thalamus and the Posterior Subthalamic Area (PSA) / Zona Incerta (The TREMORSTIM Study) Enrolling by invitation NCT03156517
40 Studying the Role of the Basal Ganglia in Motor Symptoms Using Deep Brain Stimulation Not yet recruiting NCT04080674
41 Pilot Study of Zonisamide in the Treatment of Essential Tremor Terminated NCT00616343 Zonisamide
42 Randomized Controlled Clinical Trial Comparing Functional Outcomes of Awake vs. Asleep Deep Brain Stimulation (DBS) for Essential Tremor Withdrawn NCT02418858

Search NIH Clinical Center for Spastic Paraplegia 35, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 35, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 35, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 35 29 FA2H

Anatomical Context for Spastic Paraplegia 35, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 35, Autosomal Recessive:

40
Brain, Globus Pallidus, Eye, Lung, Thalamus, Subthalamic Nucleus, Spinal Cord

Publications for Spastic Paraplegia 35, Autosomal Recessive

Articles related to Spastic Paraplegia 35, Autosomal Recessive:

(show all 30)
# Title Authors PMID Year
1
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. 61 6 24 56
22146942 2012
2
Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia. 24 56 6
23745665 2014
3
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 56 24 6
20853438 2010
4
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). 24 56 6
20104589 2010
5
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. 56 24 6
19068277 2008
6
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. 24 56
18463364 2008
7
Fatty Acid Hydroxylase-Associated Neurodegeneration 61 6
21735565 2011
8
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 56
29395073 2018
9
SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations. 56
24359114 2015
10
Neurodegeneration with Brain Iron Accumulation Disorders Overview 6
23447832 2013
11
Hereditary Spastic Paraplegia Overview 6
20301682 2000
12
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. 24
28017243 2017
13
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. 24
27316240 2016
14
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis. 24
25496456 2015
15
Case definition and classification of leukodystrophies and leukoencephalopathies. 24
25649058 2015
16
Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation. 24
22925154 2012
17
Deferiprone reduces hemosiderin deposits in the brain of a patient with superficial siderosis. 24
21051507 2011
18
Fatty acid 2-hydroxylase mediates diffusional mobility of Raft-associated lipids, GLUT4 level, and lipogenesis in 3T3-L1 adipocytes. 24
20519515 2010
19
Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. 24
20211908 2010
20
Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T schwannoma cells. 24
19171550 2009
21
Selective iron chelation in Friedreich ataxia: biologic and clinical implications. 24
17379741 2007
22
A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin. 24
15658937 2005
23
The human FA2H gene encodes a fatty acid 2-hydroxylase. 24
15337768 2004
24
Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report. 24
10067928 1999
25
Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration. 61
31837835 2020
26
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. 61
31135052 2019
27
Identification of progesterone receptor membrane component-1 as an interaction partner and possible regulator of fatty acid 2-hydroxylase. 61
29438993 2018
28
Neurodegeneration with brain iron accumulation. 61
29325618 2018
29
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. 61
27487380 2016
30
Syndromes of neurodegeneration with brain iron accumulation. 61
22704258 2012

Variations for Spastic Paraplegia 35, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 35, Autosomal Recessive:

6 (show top 50) (show all 87) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FA2H NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)SNV Pathogenic 488512 rs957683798 16:74808552-74808552 16:74774654-74774654
2 FA2H NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)SNV Pathogenic 807416 16:74750316-74750316 16:74716418-74716418
3 FA2H NM_024306.5(FA2H):c.340_363+8deldeletion Pathogenic 803271 16:74773913-74773944 16:74740015-74740046
4 FA2H NM_024306.5(FA2H):c.786+1G>ASNV Pathogenic 1043 rs1567633766 16:74752885-74752885 16:74718987-74718987
5 FA2H NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)SNV Pathogenic 1044 rs121918217 16:74808551-74808551 16:74774653-74774653
6 FA2H NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del)deletion Pathogenic 30871 rs759947457 16:74808478-74808495 16:74774580-74774597
7 FA2H NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)SNV Pathogenic 30872 rs387907040 16:74761188-74761188 16:74727290-74727290
8 FA2H NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer)deletion Pathogenic 30873 rs587776891 16:74760225-74760226 16:74726327-74726328
9 FA2H NM_024306.5(FA2H):c.707T>C (p.Phe236Ser)SNV Pathogenic 31624 rs387907172 16:74752965-74752965 16:74719067-74719067
10 FA2H NG_017070.1:g.(39810_52446)_(66877_?)deldeletion Pathogenic 31625 16:74746853-74773920 16:74712955-74740022
11 FA2H NM_024306.5(FA2H):c.150_159GCGGGCCAGG[1] (p.Ala54fs)short repeat Likely pathogenic 803272 16:74808485-74808494 16:74774587-74774596
12 FA2H NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)SNV Likely pathogenic 807415 16:74748088-74748088 16:74714190-74714190
13 FA2H NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)SNV Likely pathogenic 584457 rs1247665387 16:74808521-74808521 16:74774623-74774623
14 FA2H NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)SNV Likely pathogenic 617530 rs1274600570 16:74750350-74750350 16:74716452-74716452
15 FA2H NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)SNV Likely pathogenic 617531 rs1567632441 16:74750374-74750374 16:74716476-74716476
16 FA2H NM_024306.5(FA2H):c.517C>T (p.Pro173Ser)SNV Likely pathogenic 216927 rs863224870 16:74760219-74760219 16:74726321-74726321
17 FA2H NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)SNV Conflicting interpretations of pathogenicity 241461 rs147632811 16:74773946-74773946 16:74740048-74740048
18 FA2H NM_024306.5(FA2H):c.1113G>C (p.Thr371=)SNV Conflicting interpretations of pathogenicity 320491 rs140017632 16:74748094-74748094 16:74714196-74714196
19 FA2H NM_024306.5(FA2H):c.570C>A (p.Thr190=)SNV Conflicting interpretations of pathogenicity 320496 rs138892784 16:74760166-74760166 16:74726268-74726268
20 FA2H NM_024306.5(FA2H):c.540G>T (p.Val180=)SNV Conflicting interpretations of pathogenicity 320497 rs150423523 16:74760196-74760196 16:74726298-74726298
21 FA2H NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)SNV Conflicting interpretations of pathogenicity 30870 rs387907039 16:74752969-74752969 16:74719071-74719071
22 FA2H NM_024306.5(FA2H):c.271-8C>ASNV Conflicting interpretations of pathogenicity 696416 16:74774021-74774021 16:74740123-74740123
23 FA2H NM_024306.5(FA2H):c.798C>T (p.Asp266=)SNV Conflicting interpretations of pathogenicity 700054 16:74750486-74750486 16:74716588-74716588
24 FA2H NM_024306.5(FA2H):c.600G>A (p.Thr200=)SNV Conflicting interpretations of pathogenicity 697866 16:74760136-74760136 16:74726238-74726238
25 FA2H NM_024306.5(FA2H):c.786+7G>ASNV Conflicting interpretations of pathogenicity 700437 16:74752879-74752879 16:74718981-74718981
26 FA2H NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)SNV Conflicting interpretations of pathogenicity 320495 rs199815871 16:74750440-74750440 16:74716542-74716542
27 FA2H NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)SNV Conflicting interpretations of pathogenicity 381515 rs141276237 16:74773947-74773947 16:74740049-74740049
28 FA2H NM_024306.5(FA2H):c.205C>T (p.His69Tyr)SNV Uncertain significance 374759 rs1057519235 16:74808449-74808449 16:74774551-74774551
29 FA2H NM_024306.5(FA2H):c.207C>G (p.His69Gln)SNV Uncertain significance 623362 rs997310209 16:74808447-74808447 16:74774549-74774549
30 FA2H NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)SNV Uncertain significance 406878 rs978032580 16:74808560-74808560 16:74774662-74774662
31 FA2H NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)SNV Uncertain significance 444377 rs141854925 16:74748095-74748095 16:74714197-74714197
32 FA2H NM_024306.5(FA2H):c.*1074G>ASNV Uncertain significance 885528 16:74747014-74747014 16:74713116-74713116
33 FA2H NM_024306.5(FA2H):c.*885G>TSNV Uncertain significance 886553 16:74747203-74747203 16:74713305-74713305
34 FA2H NM_024306.5(FA2H):c.*505G>TSNV Uncertain significance 887808 16:74747583-74747583 16:74713685-74713685
35 FA2H NM_024306.5(FA2H):c.*185G>TSNV Uncertain significance 885598 16:74747903-74747903 16:74714005-74714005
36 FA2H NM_024306.5(FA2H):c.*165G>ASNV Uncertain significance 885599 16:74747923-74747923 16:74714025-74714025
37 FA2H NM_024306.5(FA2H):c.*59C>GSNV Uncertain significance 885600 16:74748029-74748029 16:74714131-74714131
38 FA2H NM_024306.5(FA2H):c.1101C>G (p.Pro367=)SNV Uncertain significance 886623 16:74748106-74748106 16:74714208-74714208
39 FA2H NM_024306.5(FA2H):c.699C>T (p.Ile233=)SNV Uncertain significance 887872 16:74752973-74752973 16:74719075-74719075
40 FA2H NM_024306.5(FA2H):c.266A>T (p.Gln89Leu)SNV Uncertain significance 885662 16:74808388-74808388 16:74774490-74774490
41 FA2H NM_024306.5(FA2H):c.786+6C>TSNV Uncertain significance 887871 16:74752880-74752880 16:74718982-74718982
42 FA2H NM_024306.5(FA2H):c.*253A>GSNV Uncertain significance 320486 rs886052289 16:74747835-74747835 16:74713937-74713937
43 FA2H NM_024306.5(FA2H):c.*150C>TSNV Uncertain significance 320488 rs559457516 16:74747938-74747938 16:74714040-74714040
44 FA2H NM_024306.5(FA2H):c.1032G>C (p.Gln344His)SNV Uncertain significance 320493 rs779374650 16:74750252-74750252 16:74716354-74716354
45 FA2H NM_024306.5(FA2H):c.*911C>ASNV Uncertain significance 320468 rs886052284 16:74747177-74747177 16:74713279-74713279
46 FA2H NM_024306.5(FA2H):c.*887T>ASNV Uncertain significance 320469 rs886052285 16:74747201-74747201 16:74713303-74713303
47 FA2H NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu)SNV Uncertain significance 320494 rs748697810 16:74750254-74750254 16:74716356-74716356
48 FA2H NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)SNV Uncertain significance 320501 rs527421775 16:74808422-74808422 16:74774524-74774524
49 FA2H NM_024306.5(FA2H):c.*652C>TSNV Uncertain significance 320475 rs886052287 16:74747436-74747436 16:74713538-74713538
50 FA2H NM_024306.5(FA2H):c.772G>A (p.Gly258Ser)SNV Uncertain significance 547856 rs774693133 16:74752900-74752900 16:74719002-74719002

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 35, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 FA2H p.Asp35Tyr VAR_054893 rs121918217
2 FA2H p.Arg235Cys VAR_064621 rs387907039
3 FA2H p.Arg154Cys VAR_065245 rs387907040

Expression for Spastic Paraplegia 35, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 35, Autosomal Recessive.

Pathways for Spastic Paraplegia 35, Autosomal Recessive

Pathways related to Spastic Paraplegia 35, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 PANK2 COASY

GO Terms for Spastic Paraplegia 35, Autosomal Recessive

Biological processes related to Spastic Paraplegia 35, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.55 PNPLA6 PLA2G6 FA2H DDHD2 CYP7B1
2 lipid catabolic process GO:0016042 9.43 PNPLA6 PLA2G6 DDHD2
3 coenzyme A biosynthetic process GO:0015937 8.96 PANK2 COASY
4 coenzyme biosynthetic process GO:0009108 8.62 PANK2 COASY

Molecular functions related to Spastic Paraplegia 35, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.16 WDR45 ATP13A2
2 lysophospholipase activity GO:0004622 8.96 PNPLA6 PLA2G6
3 phosphatidyl phospholipase B activity GO:0102545 8.62 PNPLA6 PLA2G6

Sources for Spastic Paraplegia 35, 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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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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