Spastic Paraplegia 7, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPG7 MCID: SPS128 MIFTS: 58	Spastic Paraplegia 7, Autosomal Recessive (SPG7) Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Spastic Paraplegia 7, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 7, Autosomal Recessive:

Name: Spastic Paraplegia 7, Autosomal Recessive ⁵⁷ ⁷² ¹³ ⁷⁰

Spg7 ⁵⁷ ¹² ²⁰ ⁵⁸ ⁷²

Hereditary Spastic Paraplegia 7 ¹² ²⁹ ⁶ ¹⁵

Spastic Paraplegia Type 7 ¹² ⁴³ ⁵⁸ ⁷⁰

Spastic Paraplegia 7 ²⁵ ²⁰ ⁴³

Hereditary Spastic Paraplegia, Paraplegin Type ²⁵ ⁴³

Autosomal Recessive Hereditary Spastic Paraplegia ⁷⁰

Paraplegia, Spastic, Autosomal Recessive, Type 7 ³⁹

Hereditary Spastic Paraplegia Paraplegin Type ²⁰

Autosomal Recessive Spastic Paraplegia 7 ¹²

Spastic Paraplegia, Hereditary ⁷⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

spastic paraplegia type 7
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
mean age of onset 30 years (range 25-42)
complicated and pure forms
some patients carry heterozygous mutations

HPO:

³¹

spastic paraplegia 7, autosomal recessive:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course adult onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0110816

OMIM® ⁵⁷ 607259

OMIM Phenotypic Series ⁵⁷ PS303350

MeSH ⁴⁴ D015419

ICD10 ³² G11.4

ICD10 via Orphanet ³³ G11.4

UMLS via Orphanet ⁷¹ C1846564 C3711370

Orphanet ⁵⁸ ORPHA99013

MedGen ⁴¹ C1846564

UMLS ⁷⁰ C0037773 C0751603 C1846564 more

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Summaries for Spastic Paraplegia 7, Autosomal Recessive

MedlinePlus Genetics : ⁴³ Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types generally involve only spasticity of the lower limbs and walking difficulties. The complex types involve more widespread problems with the nervous system; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). In complex forms, there can also be features outside of the nervous system. Spastic paraplegia type 7 can occur in either the pure or complex form.Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and some muscle weakness. People with this form of spastic paraplegia can also have ataxia; a pattern of movement abnormalities known as parkinsonism; exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The onset of symptoms varies greatly among those with spastic paraplegia type 7; however, abnormalities in muscle tone and other features usually become noticeable in adulthood.

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spg7, is related to spastic paraplegia 20, autosomal recessive and optic atrophy 9, and has symptoms including gait ataxia, urgency of micturition and pain in lower limb. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and endothelial, and related phenotypes are spastic gait and nystagmus

Disease Ontology : ¹² A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has material basis in mutation in the SPG7 gene on chromosome 16q24.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99013 Definition A form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.

OMIM® : ⁵⁷ Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see 182600), but X-linked (see 312920) and autosomal recessive (see 270800) forms occur. SPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features (Warnecke et al., 2007). (607259) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² Spastic paraplegia 7, 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. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.

GeneReviews: NBK1107

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Related Diseases for Spastic Paraplegia 7, 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
Spastic Paraplegia 83, 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 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 156)

#	Related Disease	Score	Top Affiliating Genes
1	spastic paraplegia 20, autosomal recessive	31.6	SPG7 PNPLA6
2	optic atrophy 9	31.6	SPG7 AFG3L2
3	behr syndrome	31.5	SPG7 OPA1
4	chronic progressive external ophthalmoplegia	31.4	SPG7 COQ8A AFG3L2
5	spinocerebellar ataxia, autosomal recessive 24	31.4	SPG7 PNPLA6
6	proximal spinal muscular atrophy	31.4	SPG7 SETX
7	3-methylglutaconic aciduria, type iii	31.4	SPG7 PARL OPA1 AFG3L2
8	spastic paraparesis	31.3	SPG7 SPG11 AFG3L2
9	spastic paraplegia 5a, autosomal recessive	31.2	SPG7 SPG11
10	early myoclonic encephalopathy	31.2	SPG7 KCNC3 AFG3L2
11	complex hereditary spastic paraplegia	31.2	SPG7 SPG11
12	spastic paraplegia 16, x-linked	31.2	SPG7 SPG11
13	hereditary spastic paraplegia 72	31.2	SPG7 SPG11
14	hereditary spastic paraplegia 30	31.2	SPG7 SPG11
15	leber hereditary optic neuropathy, modifier of	31.2	SPG7 PARL OPA1
16	spastic paraplegia 32, autosomal recessive	31.2	SPG7 SPG11
17	hereditary spastic paraplegia 51	31.2	SPG7 SPG11
18	spastic paraplegia 14, autosomal recessive	31.2	SPG7 SPG11
19	spastic ataxia 5	31.2	YME1L1 SPG7 PARL AFG3L2
20	spinocerebellar ataxia, autosomal recessive 14	31.2	SPG7 COQ8A AFG3L2
21	spastic paraplegia 50, autosomal recessive	31.2	SPG7 SPG11
22	spastic paraplegia 63, autosomal recessive	31.2	SPG7 SPG11
23	spastic paraplegia 49, autosomal recessive	31.2	SPG7 SPG11
24	perrault syndrome	31.2	YME1L1 SPG7 PARL AFG3L2
25	spastic paraplegia 18, autosomal recessive	31.1	SPG7 SPG11
26	spastic paraplegia 55, autosomal recessive	31.1	SPG7 SPG11
27	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	31.1	SPG7 COQ8A AFG3L2
28	optic atrophy 1	31.1	YME1L1 SPG7 PARL OPA1
29	optic atrophy 5	31.1	YME1L1 SPG7 OPA1 AFG3L2
30	spastic paraplegia 11, autosomal recessive	31.1	SPG7 SPG11
31	kearns-sayre syndrome	31.1	SPG7 COQ8A APTX AFG3L2
32	spastic paraplegia 48, autosomal recessive	31.1	SPG7 SPG11
33	spastic paraplegia 6, autosomal dominant	31.1	SPG7 SPG11
34	spastic paraplegia 31, autosomal dominant	31.1	SPG7 SPG11
35	cranial nerve disease	31.1	YME1L1 SPG7 PARL OPA1
36	spastic paraplegia 13, autosomal dominant	31.1	SPG7 SPG11
37	spastic paraplegia 15, autosomal recessive	31.1	SPG7 SPG11
38	spastic paraplegia 47, autosomal recessive	31.1	SPG7 SPG11
39	spastic paraplegia 8, autosomal dominant	31.0	SPG7 SPG11
40	spastic paraplegia 4, autosomal dominant	31.0	SPG7 SPG11
41	spastic paraplegia 10, autosomal dominant	31.0	SPG7 SPG11
42	optic nerve disease	31.0	YME1L1 SPG7 PARL OPA1 AFG3L2
43	masa syndrome	30.9	SPG7 SPG11
44	peripheral nervous system disease	30.9	SPG7 PNPLA6 OPA1 APTX
45	spastic paraplegia 17, autosomal dominant	30.9	SPG7 SPG11
46	spastic paraplegia 28, autosomal recessive	30.8	SPG7 SPG11 PNPLA6
47	spastic paraplegia 54, autosomal recessive	30.8	SPG7 SPG11 PNPLA6
48	spastic paraplegia 46, autosomal recessive	30.8	SPG7 SPG11 PNPLA6
49	spastic paraplegia 39, autosomal recessive	30.8	SPG7 SPG11 PNPLA6
50	spastic paraplegia 42, autosomal dominant	30.8	SPG7 SPG11 PNPLA6

Comorbidity relations with Spastic Paraplegia 7, Autosomal Recessive via Phenotypic Disease Network (PDN):

Acute Cystitis

Graphical network of the top 20 diseases related to Spastic Paraplegia 7, Autosomal Recessive:

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Symptoms & Phenotypes for Spastic Paraplegia 7, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

⁵⁸ ³¹ (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	spastic gait ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0002064
2	nystagmus ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000639
3	optic atrophy ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000648
4	attention deficit hyperactivity disorder ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007018
5	ragged-red muscle fibers ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003200
6	nasal speech ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001611
7	babinski sign ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0003487
8	cerebellar atrophy ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0001272
9	abnormal mitochondrial morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008322
10	urinary urgency ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000012
11	slowed slurred speech ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007164
12	supranuclear gaze palsy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000605
13	lower limb muscle weakness ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0007340
14	lower limb hyperreflexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002395
15	lower limb hypertonia ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0006895
16	impaired vibration sensation in the lower limbs ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0002166
17	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
18	dysarthria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001260
19	cerebral cortical atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002120
20	pes cavus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001761
21	optic disc pallor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000543
22	abnormality of the cerebral white matter ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002500
23	upper limb muscle weakness ⁵⁸ ³¹	very rare (1%)	Occasional (29-5%)	HP:0003484
24	dysphagia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002015
25	specific learning disability ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001328
26	memory impairment ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002354
27	lower limb pain ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0012514
28	hearing impairment ³¹	very rare (1%)		HP:0000365
29	slurred speech ³¹	very rare (1%)		HP:0001350
30	waddling gait ³¹	very rare (1%)		HP:0002515
31	muscle stiffness ³¹	very rare (1%)		HP:0003552
32	dysmetria ³¹	very rare (1%)		HP:0001310
33	dysdiadochokinesis ³¹	very rare (1%)		HP:0002075
34	vertical supranuclear gaze palsy ³¹	very rare (1%)		HP:0000511
35	spastic ataxia ³¹	very rare (1%)		HP:0002497
36	postural instability ³¹	very rare (1%)		HP:0002172
37	upper limb hypertonia ³¹	very rare (1%)		HP:0200049
38	hyperreflexia ³¹			HP:0001347
39	abnormal pyramidal sign ⁵⁸		Frequent (79-30%)
40	spastic paraplegia ³¹			HP:0001258
41	gait ataxia ³¹			HP:0002066
42	sensory impairment ⁵⁸		Frequent (79-30%)
43	abnormality of higher mental function ⁵⁸		Frequent (79-30%)
44	lower limb spasticity ³¹			HP:0002061
45	urinary incontinence ³¹			HP:0000020
46	urinary bladder sphincter dysfunction ³¹			HP:0002839
47	degeneration of the lateral corticospinal tracts ³¹			HP:0002314

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Neurologic Central Nervous System:
hyperreflexia
dysarthria
cerebellar atrophy
lower limb spasticity
spastic gait
more

Head And Neck Eyes:
nystagmus
optic atrophy
supranuclear palsy

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
dysphagia (rare)

Clinical features from OMIM®:

607259 (Updated 20-May-2021)

UMLS symptoms related to Spastic Paraplegia 7, Autosomal Recessive:

gait ataxia; urgency of micturition; pain in lower limb; abnormal pyramidal signs; leg cramps

MGI Mouse Phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.81	AFG3L2 COQ8A KCNC3 OPA1 PARL PNPLA6
2	cellular	MP:0005384	9.56	AFG3L2 APTX OPA1 PARL PNPLA6 SETX
3	muscle	MP:0005369	9.1	AFG3L2 COQ8A KCNC3 OPA1 PARL YME1L1

Sources

Drugs & Therapeutics for Spastic Paraplegia 7, Autosomal Recessive

Drugs for Spastic Paraplegia 7, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcholine

Approved, Investigational

Phase 2, Phase 3

51-84-3

187

Synonyms:

2-(Acetyloxy)-N,N,N-trimethylethanaminium

Acetilcolina cusi

Acetyl choline ion

Acetylcholine

Acetylcholine bromide

Acetylcholine cation

acetylcholine chloride

Acetylcholine chloride

Acetylcholine fluoride

Acetylcholine hydroxide

Acetylcholine iodide

Acetylcholine L tartrate

Acetylcholine L-tartrate

Acetylcholine perchlorate

Acetylcholine picrate

Acetylcholine picrate (1:1)

Acetylcholine sulfate (1:1)

Acetylcholinium: acetyl-choline

ACh

Alcon brand OF acetylcholine chloride

Azetylcholin

Bournonville brand OF acetylcholine chloride

Bromide, acetylcholine

Bromoacetylcholine

Chloroacetylcholine

Choline acetate

Choline acetate (ester)

Choline acetic acid

Ciba vision brand OF acetylcholine chloride

Cusi, acetilcolina

Fluoride, acetylcholine

Hydroxide, acetylcholine

Iodide, acetylcholine

Iolab brand OF acetylcholine chloride

L-Tartrate, acetylcholine

Miochol

O-Acetylcholine

Perchlorate, acetylcholine

Cholinergic Agents

Phase 2, Phase 3

Neurotransmitter Agents

Phase 2, Phase 3

Botulinum Toxins

Phase 2, Phase 3

chenodeoxycholic acid

Approved

Phase 2

474-25-9

10133

Synonyms:

(+)-Chenodeoxycholate

(+)-Chenodeoxycholic acid

(3a,5b,7a)-3,7-Dihydroxy-cholan-24-Oate

(3a,5b,7a)-3,7-Dihydroxy-cholan-24-Oic acid

3a,7a-Dihydroxy-5b,14a,17b-cholanate

3a,7a-Dihydroxy-5b,14a,17b-cholanic acid

3a,7a-Dihydroxy-5b-cholan-24-Oate

3a,7a-Dihydroxy-5b-cholan-24-Oic acid

3a,7a-Dihydroxy-5b-cholanate

3a,7a-Dihydroxy-5b-cholanic acid

3alpha,7alpha-Dihydroxy-5beta-cholanate

3alpha,7alpha-Dihydroxy-5beta-cholanic acid

3Α,7α-dihydroxy-5β-cholanate

3Α,7α-dihydroxy-5β-cholanic acid

7a-Hydroxy-desoxycholsaeure

7a-Hydroxylithocholate

7a-Hydroxylithocholic acid

7alpha-Hydroxylithocholate

7alpha-Hydroxylithocholic acid

7Α-hydroxylithocholate

7α-hydroxylithocholic acid

7Α-hydroxylithocholic acid

Acid, chenic

Acid, chenique

Acid, chenodeoxycholic

Acid, gallodesoxycholic

Acide chenodeoxycholique

Acido chenodeoxicholico

Acidum chenodeoxycholicum

Anthropodeoxycholate

Anthropodeoxycholic acid

Anthropodesoxycholate

Anthropodesoxycholic acid

Antigen brand OF chenodeoxycholic acid

CDCA

Chenate

Chenic acid

Chenique acid

Chenix

Chenocholic acid

Chenodeoxycholate

Chenodeoxycholate, sodium

Chenodeoxycholic acid

Chenodesoxycholic acid

Chenodesoxycholsaeure

Chenodiol

Chenofalk

Chenophalk

Estedi brand OF chenodeoxycholic acid

Falk brand OF chenodeoxycholic acid

Gallodesoxycholate

Gallodesoxycholic acid

Henohol

Quenobilan

Quenocol

Sodium chenodeoxycholate

Solvay brand OF chenodeoxycholic acid

Tramedico brand OF chenodeoxycholic acid

Zambon brand OF chenodeoxycholic acid

Atorvastatin

Approved

Phase 2

134523-00-5

60823

Synonyms:

(3R,5R)-7-(2-(4-Fluorophenyl)-5-isopropyl-3-phenyl-4-(phenylcarbamoyl)-1H-pyrrol-1-yl)-3,5-dihydroxyheptanoic acid

(3R,5R)-7-[2-(4-fluorophenyl)-3-phenyl-4-(phenylcarbamoyl)-5-propan-2-ylpyrrol-1-yl]-3,5-dihydroxyheptanoic acid

(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-2-isopropyl-4-phenyl-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid

(betaR,deltaR)-2-(p-Fluorophenyl)-beta,delta-dihydroxy-5-isopropyl-3-phenyl-4-(phenylcarbamoyl)pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-b,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-b,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-b,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-b,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-β,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-β,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

134523-00-5

134523-03-8

7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]- 3,5-DIHYDROXY-HEPTANOIC ACID

7-[2-(4-FLUORO-phenyl)-5-isopropyl-3-phenyl-4-phenylcarbamoyl-pyrrol-1-yl]-3,5-dihydroxy-heptanoate

7-[2-(4-FLUORO-phenyl)-5-isopropyl-3-phenyl-4-phenylcarbamoyl-pyrrol-1-yl]-3,5-dihydroxy-heptanoIC ACID

AC-15611

AC1L1TZT

AC1Q1OZQ

AKOS000281127

Anhydrous, atorvastatin calcium

Atogal

Atorlip

Atorpic

atorvastatin

Atorvastatin

Atorvastatin (INN)

Atorvastatin [INN:BAN]

Atorvastatin acid

Atorvastatin calcium

Atorvastatin calcium anhydrous

Atorvastatin calcium hydrate

Atorvastatin calcium trihydrate

Atorvastatin, calcium salt

atorvastatina

Atorvastatina

atorvastatine

Atorvastatine

atorvastatinium

atorvastatinum

Atorvastatinum

atrovastin

BIDD:GT0336

C06834

C33H35FN2O5

Calcium anhydrous, atorvastatin

Calcium hydrate, atorvastatin

Calcium salt atorvastatin

Calcium trihydrate, atorvastatin

Calcium, atorvastatin

Cardyl

CCRIS 7159

CHEBI:39548

CHEMBL1487

CI 981

CID60823

D07474

DB01076

Faboxim

Hipolixan

HSDB 7039

Hydrate, atorvastatin calcium

Lipitor

Lipitor (TN)

Lipitor(TM)

Lipotropic

Lipovastatinklonal

Liprimar

Liptonorm

Lowden

LS-136975

MolPort-000-883-773

NCGC00159458-02

nchembio.301-comp8

Normalip

Sincol

Sortis

Sortis (TN)

Sotis

Torvacard

Torvast

Totalip

Tozalip

Trihydrate, atorvastatin calcium

Tulip

UNII-A0JWA85V8F

Vastina

Xanator

Xarator

Xavator

Zurinel

Evolocumab

Approved

Phase 1, Phase 2

1256937-27-5

Resveratrol

Investigational

Phase 2

501-36-0

445154

Synonyms:

(E)-2-(3,5-Dihydroxyphenyl)-1-(4-hydroxyphenyl)ethene

(E)-3,4',5-Trihydroxystilbene

(E)-3,4’,5-Trihydroxystilbene

(e)-5-(2-(4-Hydroxyphenyl)ethenyl)-1,3-benzenediol

(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol

(E)-5-(p-Hydroxystyryl)resorcinol

(E)-resveratrol

(E)-Resveratrol

3,4',5-Stilbenetriol

3,4',5-trihydroxystilbene

3,4',5-Trihydroxystilbene

3,4',5-trihydroxy-trans-stilbene

3,4',5-Trihydroxy-trans-stilbene

3,4’,5-Stilbenetriol

3,4’,5-Trihydroxystilbene

3,4’,5-Trihydroxy-trans-stilbene

3,5,4'-trihydroxystilbene

3,5,4'-Trihydroxystilbene

5-[(1E)-2-(4-Hydroxyphenyl)ethenyl]-1,3-benzenediol

5-[(e)-2-(4-Hydroxyphenyl)vinyl]benzene-1,3-diol

5-[(E)-2-(4-hydroxyphenyl)vinyl]benzene-1,3-diol

Resveratrol

SRT 501

SRT-501

trans Resveratrol

trans-3,4',5 - Trihydroxystilbene

trans-3,5,4’-Trihydroxystilbene

trans-3,5,4'-Trihydroxystilbene

trans-resveratrol

trans-Resveratrol

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 2

Antirheumatic Agents

Phase 2

Antioxidants

Phase 2

Cathartics

Phase 2

Gastrointestinal Agents

Phase 2

Anti-Inflammatory Agents

Phase 2

Protective Agents

Phase 2

Platelet Aggregation Inhibitors

Phase 2

Laxatives

Phase 2

Analgesics

Phase 2

Anti-Inflammatory Agents, Non-Steroidal

Phase 2

Analgesics, Non-Narcotic

Phase 2

Anticholesteremic Agents

Phase 1, Phase 2

Antimetabolites

Phase 1, Phase 2

Hypolipidemic Agents

Phase 1, Phase 2

Lipid Regulating Agents

Phase 1, Phase 2

Idebenone

Approved, Investigational

58186-27-9

Synonyms:

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methyl-1,4-benzoquinone

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methylcyclohexa-2,5-diene-1,4-dione

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methyl-p-benzoquinone

2,3-dimethoxy-5-methyl-6-(10'-hydroxydecyl)-1,4-benzoquinone

6-(10-hydroxydecyl)-2,3-dimethoxy-5-methyl-1,4-benzoquinone

6-(10-hydroxydecyl)-2,3-dimethoxy-5-methyl-p-benzoquinone

idebenona

Idebenone

idébénone

Choline

Approved, Nutraceutical

62-49-7

305

Synonyms:

(2-Hydroxyethyl)trimethyl ammonium

(2-Hydroxyethyl)trimethylammonium

(beta-Hydroxyethyl)trimethylammonium

2-Hydroxy-N,N,N-trimethylethanaminium

2-Hydroxy-N,N,N-trimethyl-ethanaminium

Bilineurine

Biocolina

Biocoline

Bitartrate, choline

Bursine

Chloride, choline

Choline bitartrate

Choline cation

Choline chloride

Choline citrate

Choline hydroxide

Choline ion

CHOLINE ion

Choline O sulfate

Choline O-sulfate

Cholinum

Citrate, choline

Fagine

Hepacholine

Hormocline

Hydroxide, choline

Lipotril

N,N,N-trimethylethanol-ammonium

N,N,N-Trimethylethanolammonium

N,N,N-Trimethylethanol-ammonium

Neocolina

N-trimethylethanolamine

N-Trimethylethanolamine

O-Sulfate, choline

Paresan

trimethylethanolamine

Trimethylethanolamine

Vidine

Vitamin J

Creatine

Approved, Investigational, Nutraceutical

57-00-1

586

Synonyms:

((Amino(imino)methyl)(methyl)amino)acetate

((amino(Imino)methyl)(methyl)amino)acetic acid

((Amino(imino)methyl)(methyl)amino)acetic acid

(alpha-Methylguanido)acetate

(alpha-Methylguanido)acetic acid

(a-Methylguanido)acetate

(a-Methylguanido)acetic acid

(N-Methylcarbamimidamido)acetate

(N-methylcarbamimidamido)acetic acid

(N-Methylcarbamimidamido)acetic acid

(Α-methylguanido)acetate

(α-methylguanido)acetic acid

(Α-methylguanido)acetic acid

[[Amino(imino)methyl](methyl)amino]acetate

[[Amino(imino)methyl](methyl)amino]acetic acid

alpha-Methylguanidino acetate

alpha-Methylguanidino acetic acid

a-Methylguanidino acetate

a-Methylguanidino acetic acid

Cosmocair C 100

Creatin

Creatine

Creatine (8CI)

Creatine hydrate

Creatine, hydrate

Kreatin

Krebiozon

Methylglycocyamine

Methylguanidoacetate

Methylguanidoacetic acid

N-(aminoiminomethyl)-N-methylglycine

N-(Aminoiminomethyl)-N-methylglycine

N-(Aminoiminomethyl)-N-methyl-glycine

N-[(e)-AMINO(imino)methyl]-N-methylglycine

N-amidinosarcosine

N-Amidinosarcosine

N-carbamimidoyl-N-methylglycine

N-Carbamimidoyl-N-methylglycine

N-methyl-N-guanylglycine

N-Methyl-N-guanylglycine

Phosphagen

Pyrolysate

Α-methylguanidino acetate

Α-methylguanidino acetic acid

Aspartic acid

Approved, Nutraceutical

56-84-8

5960

Synonyms:

(+)-Aspartate

(+)-Aspartic acid

(+-)-Aspartic acid

(2S)-Aspartate

(2S)-Aspartic acid

(L)-Aspartate

(L)-Aspartic acid

(R)-2-Aminosuccinate

(R,S)-Aspartic acid

(S)-(+)-Aspartate

(S)-(+)-Aspartic acid

(S)-2-Aminobutanedioate

(S)-2-aminobutanedioic acid

(S)-2-Aminobutanedioic acid

(S)-2-Aminosuccinate

(S)-2-aminosuccinic acid

(S)-2-Aminosuccinic acid

(S)-Aminobutanedioate

(S)-Amino-butanedioate

(S)-Aminobutanedioic acid

(S)-Amino-butanedioic acid

(S)-Aspartate

(S)-Aspartic acid

2-Amino-3-methylsuccinate

2-Amino-3-methylsuccinic acid

2-Aminosuccinate

2-Aminosuccinic acid

ácido aspártico

Acidum asparticum

alpha-Aminosuccinate

alpha-Aminosuccinic acid

Aminosuccinate

Ammonium aspartate

Asp

Asparagate

Asparagic acid

Asparaginate

Asparaginic acid

Asparatate

ASPARTate

Aspartate magnesium hydrochloride

Aspartate, ammonium

Aspartate, calcium

Aspartate, dipotassium

Aspartate, disodium

Aspartate, magnesium

Aspartate, monopotassium

Aspartate, monosodium

Aspartate, potassium

Aspartate, sodium

Aspartic acid

ASPARTIC ACID

Aspartic acid, ammonium salt

Aspartic acid, calcium salt

Aspartic acid, dipotassium salt

Aspartic acid, disodium salt

Aspartic acid, hydrobromide

Aspartic acid, hydrochloride

Aspartic acid, magnesium (1:1) salt, hydrochloride, trihydrate

Aspartic acid, magnesium (2:1) salt

Aspartic acid, magnesium-potassium (2:1:2) salt

Aspartic acid, monopotassium salt

Aspartic acid, monosodium salt

Aspartic acid, potassium salt

Aspartic acid, sodium salt

Calcium aspartate

Dipotassium aspartate

Disodium aspartate

H-Asp-OH

Hydrobromide aspartic acid

Hydrochloride aspartic acid

Hydrochloride, aspartate magnesium

L Aspartate

L Aspartic acid

L-(+)-Aspartate

L-(+)-Aspartic acid

L-Aminosuccinate

L-Aminosuccinic acid

L-Asp

L-Asparagate

L-Asparagic acid

L-Asparaginate

L-Asparaginic acid

L-Asparaginsaeure

L-Asparaginsäure

L-Aspartate

L-Aspartic acid

Magnesiocard

Magnesium aspartate

MG 5 Longoral

MG5Longoral

MG-5-Longoral

Monopotassium aspartate

Monosodium aspartate

Poly-DL-succinimide

Polysuccinimide

Potassium aspartate

Sodium aspartate

N-Methylaspartate

Interventional clinical trials:

(show all 15)

#	Name	Status	NCT ID	Phase	Drugs
1	Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study	Completed	NCT02604186	Phase 2, Phase 3
2	Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5	Completed	NCT02314208	Phase 2	Xenbilox;Tahor
3	Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study	Completed	NCT03961906	Phase 2
4	PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5	Recruiting	NCT04101643	Phase 1, Phase 2	evolocumab
5	A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy	Completed	NCT03627416
6	A Patient Centric Motor Neuron Disease Activities of Daily Living Scale	Completed	NCT02852278
7	Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis	Completed	NCT00023075
8	Studying Cognition in SPG4 Compared to Healthy Controls	Completed	NCT03104088
9	Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation	Recruiting	NCT04180098
10	Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood	Recruiting	NCT01568658
11	Phenotype, Genotype & Biomarkers in ALS and Related Disorders	Recruiting	NCT02327845
12	Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders	Recruiting	NCT03981276
13	Registry and Natural History Study for AP-4 Associated Hereditary Spastic Paraplegia (AP-4-HSP)	Recruiting	NCT04712812
14	Studying the Presymptomatic and Early Phase of SPG4	Recruiting	NCT03206190
15	Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31	Terminated	NCT02859428

Search NIH Clinical Center for Spastic Paraplegia 7, Autosomal Recessive

Sources

Genetic Tests for Spastic Paraplegia 7, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 7, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Hereditary Spastic Paraplegia 7 ²⁹	SPG7

Sources

Anatomical Context for Spastic Paraplegia 7, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 7, Autosomal Recessive:

⁴⁰

Eye, Spinal Cord, Endothelial, Breast, Brain, Prostate

Sources

Publications for Spastic Paraplegia 7, Autosomal Recessive

Articles related to Spastic Paraplegia 7, Autosomal Recessive:

(show top 50) (show all 188)

#	Title	Authors	PMID	Year
1	SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. ⁶ ⁵⁷ ²⁵ ⁶¹	Sanchez-Ferrero E...Genetics of Spastic Paraplegia study group	22571692	2013
2	A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. ²⁵ ⁵⁷ ⁶ ⁶¹	Arnoldi A...Bassi MT	18200586	2008
3	Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. ⁶¹ ²⁵ ⁶ ⁵⁷	Elleuch N...Brice A	16534102	2006
4	Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. ²⁵ ⁵⁷ ⁶	Brugman F...van den Berg LH	18799786	2008
5	A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. ²⁵ ⁵⁷ ⁶	De Michele G...Cocozza S	9634528	1998
6	Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. ²⁵ ⁶ ⁵⁷	Casari G...Ballabio A	9635427	1998
7	A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. ⁶¹ ⁶ ⁵⁷	Warnecke T...Young P	17646629	2007
8	SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ²⁵ ⁶ ⁶¹	Choquet K...Brais B	26626314	2016
9	Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis. ²⁵ ⁶ ⁶¹	Yang Y...Siddique T	27123479	2016
10	Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. ⁶¹ ⁶ ²⁵	Kruger S...Biskup S	27790088	2016
11	SPG7 mutations are a common cause of undiagnosed ataxia. ⁶ ²⁵ ⁶¹	Pfeffer G...Chinnery PF	25681447	2015
12	Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ⁶¹ ²⁵ ⁶	Pfeffer G...Chinnery PF	24727571	2014
13	Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. ⁶ ²⁵ ⁶¹	Wedding IM...Tzoulis C	24466038	2014
14	Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. ⁶ ²⁵ ⁶¹	Klebe S...Durr A	23065789	2012
15	Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. ⁶¹ ²⁵ ⁶	van Gassen KL...van de Warrenburg BP	22964162	2012
16	A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. ⁶ ²⁵ ⁶¹	Warnecke T...Young P	20108356	2010
17	Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. ²⁵ ⁶¹ ⁶	Tzoulis C...Bindoff LA	18563470	2008
18	A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. ⁶ ²⁵ ⁶¹	Wilkinson PA...Warner TT	14985266	2004
19	Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. ²⁵ ⁶	McDermott CJ...Shaw PJ	11222789	2001
20	High diagnostic yield and novel variants in very late-onset spasticity. ⁶¹ ⁶	Almomen M...Pfeffer G	30747022	2019
21	Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. ⁶ ⁶¹	Mancini C...Brusco A	30098094	2019
22	Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. ⁶¹ ⁶	Hewamadduma CA...Hadjivassiliou M	30533525	2018
23	Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. ⁶¹ ⁶	Coutelier M...Spastic Paraplegia and Ataxia Network	29482223	2018
24	Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach. ⁶ ⁶¹	Burguez D...Saute JAM	29246610	2017
25	SPG7 and Impaired Emotional Communication. ⁶¹ ⁶	Zhang L...Ashizawa T	27557734	2017
26	A founder mutation p.H701P identified as a major cause of SPG7 in Norway. ⁶¹ ⁶	Rydning SL...Tallaksen CM	26756429	2016
27	Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. ⁶ ⁶¹	Thal DR...Synofzik M	26506339	2015
28	Early-onset optic neuropathy as initial clinical presentation in SPG7. ⁶¹ ⁶	Marcotulli C...Casali C	25034272	2014
29	Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. ⁶ ⁶¹	Yoon G...Ray PN	23733235	2013
30	Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. ⁶¹ ⁶	Kumar KR...Sue CM	23812641	2013
31	The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. ⁶ ⁶¹	Roxburgh RH...Love DR	23269439	2013
32	Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. ⁶¹ ⁶	Schlipf NA...Bauer P	21623769	2011
33	Functional evaluation of paraplegin mutations by a yeast complementation assay. ⁶¹ ⁶	Bonn F...Mannan AU	20186691	2010
34	Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. ⁶¹ ²⁵	Synofzik M...Schule R	28195350	2017
35	Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. ⁶	van de Warrenburg BP...Kamsteeg EJ	27165006	2016
36	The MicroRNA-224 Inhibitor Prevents Neuronal Apoptosis via Targeting Spastic Paraplegia 7 After Cerebral Ischemia. ⁶¹ ²⁵	Fu F...Qian C	27165196	2016
37	Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction. ⁶	Kullar PJ...Chinnery PF	27016405	2016
38	SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. ⁶¹ ²⁵	Shanmughapriya S...Madesh M	26387735	2015
39	Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). ²⁵ ⁶¹	Yahikozawa H...Matsumoto N	27081526	2015
40	Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. ⁶	Fogel BL...Nelson SF	25133958	2014
41	SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes. ⁶¹ ²⁵	Almontashiri NA...Stewart AF	24767997	2014
42	The dosage and administration of long-term intrathecal baclofen therapy for severe spasticity of spinal origin. ²⁵	Kawano O...Maeda T	29895878	2018
43	The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. ²⁵	Konig T...Langer T	27642048	2016
44	Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. ²⁵	Melo US...Santos S	26385635	2015
45	Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. ²⁵	Di Bella D...Taroni F	20208537	2010
46	Autocatalytic processing of m-AAA protease subunits in mitochondria. ²⁵	Koppen M...Langer T	19656850	2009
47	MR imaging findings in autosomal recessive hereditary spastic paraplegia. ²⁵	Hourani R...Yamout BI	19193756	2009
48	Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. ²⁵	Salinas S...Warner TT	19007737	2008
49	The mitochondrial protease AFG3L2 is essential for axonal development. ²⁵	Maltecca F...Casari G	18337413	2008
50	The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. ²⁵	Schule R...Schols L	16894103	2006

Sources

Genes for Spastic Paraplegia 7, Autosomal Recessive

Genes related to Spastic Paraplegia 7, Autosomal Recessive (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	1700.5	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9635427 17646629 20301286
2	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	6.78	DISEASES inferred ¹⁵
3	YME1L1	YME1 Like 1 ATPase	Protein Coding	6.61	DISEASES inferred ¹⁵
4	FGGY	FGGY Carbohydrate Kinase Domain Containing	Protein Coding	6.05	DISEASES inferred ¹⁵
5	ANO10	Anoctamin 10	Protein Coding	6.04	DISEASES inferred ¹⁵
6	PARL	Presenilin Associated Rhomboid Like	Protein Coding	5.75	DISEASES inferred ¹⁵
7	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	5.46	DISEASES inferred ¹⁵
8	APTX	Aprataxin	Protein Coding	5.42	DISEASES inferred ¹⁵
9	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	5.34	DISEASES inferred ¹⁵
10	SETX	Senataxin	Protein Coding	5.27	DISEASES inferred ¹⁵
11	COQ8A	Coenzyme Q8A	Protein Coding	5.25	DISEASES inferred ¹⁵
12	SPG11	SPG11 Vesicle Trafficking Associated, Spatacsin	Protein Coding	5.21	DISEASES inferred ¹⁵
13	KCNC3	Potassium Voltage-Gated Channel Subfamily C Member 3	Protein Coding	5.13	DISEASES inferred ¹⁵

Sources

Variations for Spastic Paraplegia 7, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 7, Autosomal Recessive:

⁶ (show top 50) (show all 238)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SPG7	SPG7, 2-BP DEL, NT784	Deletion	Pathogenic	6810		GRCh37: GRCh38:
2	SPG7	SPG7, 1-BP INS, 2228A	Insertion	Pathogenic	6811		GRCh37: GRCh38:
3	SPG7	SPG7, 9.5-KB DEL	Deletion	Pathogenic	6812		GRCh37: GRCh38:
4	SPG7	SPG7, 2-BP DEL, 1-BP INS, 850	Indel	Pathogenic	6813		GRCh37: GRCh38:
5	SPG7	NM_003119.4(SPG7):c.1739_1741TGG[1] (p.Val581del)	Microsatellite	Pathogenic	6814	rs1597661607	GRCh37: 16:89616977-89616979 GRCh38: 16:89550569-89550571
6	SPG7	NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)	SNV	Pathogenic	6815	rs121918357	GRCh37: 16:89620340-89620340 GRCh38: 16:89553932-89553932
7	SPG7	NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	SNV	Pathogenic	6816	rs121918358	GRCh37: 16:89576947-89576947 GRCh38: 16:89510539-89510539
8	SPG7	SPG7, 1-BP DEL, 1616C	Deletion	Pathogenic	6817		GRCh37: GRCh38:
9	SPG7	SPG7, 5.1-KB DEL	Deletion	Pathogenic	6818		GRCh37: GRCh38:
10	SPG7	NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)	SNV	Pathogenic	6820	rs267607085	GRCh37: 16:89616987-89616987 GRCh38: 16:89550579-89550579
11	SPG7	NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	SNV	Pathogenic	188276	rs369227537	GRCh37: 16:89616910-89616910 GRCh38: 16:89550502-89550502
12	SPG7	NM_003119.4(SPG7):c.861dup (p.Asn288Ter)	Duplication	Pathogenic	212294	rs797046003	GRCh37: 16:89595983-89595984 GRCh38: 16:89529575-89529576
13	SPG7	NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)	SNV	Pathogenic	216088	rs748555510	GRCh37: 16:89611139-89611139 GRCh38: 16:89544731-89544731
14	SPG7	NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)	SNV	Pathogenic	216571	rs752989523	GRCh37: 16:89620261-89620261 GRCh38: 16:89553853-89553853
15	SPG7	NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)	SNV	Pathogenic	219448	rs864622094	GRCh37: 16:89620349-89620349 GRCh38: 16:89553941-89553941
16	SPG7	NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)	SNV	Pathogenic	217269	rs72547551	GRCh37: 16:89616953-89616953 GRCh38: 16:89550545-89550545
17	SPG7	NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)	SNV	Pathogenic	217271	rs752989523	GRCh37: 16:89620261-89620261 GRCh38: 16:89553853-89553853
18	SPG7	NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)	SNV	Pathogenic	217268	rs879253797	GRCh37: 16:89623362-89623362 GRCh38: 16:89556954-89556954
19	SPG7	NM_003119.4(SPG7):c.471_472TC[1] (p.Leu158fs)	Microsatellite	Pathogenic	217272	rs879253798	GRCh37: 16:89590507-89590508 GRCh38: 16:89524099-89524100
20	SPG7	NM_003119.3(SPG7):c.1553-?_1779+?del	Deletion	Pathogenic	254070		GRCh37: GRCh38:
21	SPG7	NM_003119.4(SPG7):c.988-1G>A	SNV	Pathogenic	217270	rs748309520	GRCh37: 16:89598311-89598311 GRCh38: 16:89531903-89531903
22	SPG7	NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	Duplication	Pathogenic	411675	rs760818649	GRCh37: 16:89598370-89598371 GRCh38: 16:89531962-89531963
23	SPG7	NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs)	Indel	Pathogenic	411676	rs1060503425	GRCh37: 16:89598369-89598370 GRCh38: 16:89531961-89531962
24	SPG7	NM_003119.4(SPG7):c.1626_1627TC[1] (p.Leu543fs)	Microsatellite	Pathogenic	411677	rs766155407	GRCh37: 16:89614483-89614484 GRCh38: 16:89548075-89548076
25	SPG7	NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	SNV	Pathogenic	215218	rs752623413	GRCh37: 16:89623341-89623341 GRCh38: 16:89556933-89556933
26	SPG7	NM_003119.4(SPG7):c.1937-2A>G	SNV	Pathogenic	465174	rs568556987	GRCh37: 16:89620200-89620200 GRCh38: 16:89553792-89553792
27	SPG7	NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)	Deletion	Pathogenic	465175	rs748255454	GRCh37: 16:89620903-89620919 GRCh38: 16:89554495-89554511
28	SPG7	NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)	Deletion	Pathogenic	495055	rs775364547	GRCh37: 16:89598369-89598397 GRCh38: 16:89531961-89531989
29	SPG7	NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)	Indel	Pathogenic	533735	rs768595656	GRCh37: 16:89595976-89595977 GRCh38: 16:89529568-89529569
30	SPG7	NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)	SNV	Pathogenic	215215	rs372981030	GRCh37: 16:89616913-89616913 GRCh38: 16:89550505-89550505
31	SPG7	NM_003119.4(SPG7):c.1553-2A>G	SNV	Pathogenic	576145	rs1229749476	GRCh37: 16:89614409-89614409 GRCh38: 16:89548001-89548001
32	SPG7	NC_000016.10:g.(?_89529457)_(89529599_?)del	Deletion	Pathogenic	584118		GRCh37: 16:89595865-89596007 GRCh38: 16:89529457-89529599
33	SPG7	NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)	SNV	Pathogenic	646516	rs1314660313	GRCh37: 16:89574911-89574911 GRCh38: 16:89508503-89508503
34	SPG7	NC_000016.10:g.(?_89508408)_(89508610_?)del	Deletion	Pathogenic	658452		GRCh37: 16:89574816-89575018 GRCh38: 16:89508408-89508610
35	SPG7	NC_000016.10:g.(?_89510480)_(89513047_?)del	Deletion	Pathogenic	831061		GRCh37: 16:89576888-89579455 GRCh38:
36	SPG7	NM_003119.4(SPG7):c.771_772TG[1] (p.Val258fs)	Microsatellite	Pathogenic	504920	rs768136171	GRCh37: 16:89595899-89595900 GRCh38: 16:89529489-89529490
37	SPG7	NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs)	Duplication	Pathogenic	857760		GRCh37: 16:89598889-89598890 GRCh38: 16:89532481-89532482
38	SPG7	NM_003119.4(SPG7):c.1552+1G>T	SNV	Pathogenic	807498	rs141644720	GRCh37: 16:89613169-89613169 GRCh38: 16:89546761-89546761
39	SPG7	NM_003119.4(SPG7):c.934dup (p.Ala312fs)	Duplication	Pathogenic	933586		GRCh37: 16:89597161-89597162 GRCh38: 16:89530753-89530754
40	SPG7	NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)	SNV	Pathogenic	949128		GRCh37: 16:89592857-89592857 GRCh38: 16:89526449-89526449
41	SPG7	NM_003119.4(SPG7):c.596del (p.Gly199fs)	Deletion	Pathogenic	958161		GRCh37: 16:89590632-89590632 GRCh38: 16:89524224-89524224
42	SPG7	NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)	SNV	Pathogenic	1029673		GRCh37: 16:89598906-89598906 GRCh38: 16:89532498-89532498
43	SPG7	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV	Pathogenic/Likely pathogenic	42016	rs61755320	GRCh37: 16:89613145-89613145 GRCh38: 16:89546737-89546737
44	SPG7	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	Deletion	Pathogenic/Likely pathogenic	411680	rs768823392	GRCh37: 16:89613065-89613073 GRCh38: 16:89546657-89546665
45	SPG7	NM_003119.4(SPG7):c.2271del (p.Met757fs)	Deletion	Pathogenic/Likely pathogenic	522825	rs1217391623	GRCh37: 16:89623384-89623384 GRCh38: 16:89556976-89556976
46	SPG7	NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SNV	Pathogenic/Likely pathogenic	6819	rs141659620	GRCh37: 16:89598369-89598369 GRCh38: 16:89531961-89531961
47	SPG7	NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)	SNV	Likely pathogenic	217006	rs72547552	GRCh37: 16:89616967-89616967 GRCh38: 16:89550559-89550559
48	SPG7	NM_003119.4(SPG7):c.976_987+3del	Deletion	Likely pathogenic	239501	rs878854606	GRCh37: 16:89597202-89597216 GRCh38: 16:89530794-89530808
49	SPG7	NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)	SNV	Likely pathogenic	436844	rs368373840	GRCh37: 16:89598357-89598357 GRCh38: 16:89531949-89531949
50	SPG7	NM_003119.4(SPG7):c.376+1G>T	SNV	Likely pathogenic	411682	rs746053679	GRCh37: 16:89579446-89579446 GRCh38: 16:89513038-89513038

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 7, Autosomal Recessive:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	SPG7	p.Ser692Thr	VAR_045898	rs121918357
2	SPG7	p.Gly349Ser	VAR_063607	rs141659620
3	SPG7	p.Ala510Val	VAR_063609	rs61755320
4	SPG7	p.Trp583Cys	VAR_063612	rs267607085

Sources

Expression for Spastic Paraplegia 7, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 7, Autosomal Recessive.

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Pathways for Spastic Paraplegia 7, Autosomal Recessive

Pathways related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Spinocerebellar ataxia ³⁶	10.95	OPA1 KCNC3 AFG3L2

Sources

GO Terms for Spastic Paraplegia 7, Autosomal Recessive

Cellular components related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	9.73	YME1L1 SPG7 PARL OPA1 COQ8A AFG3L2
2	mitochondrial inner membrane	GO:0005743	9.35	YME1L1 SPG7 PARL OPA1 AFG3L2
3	extrinsic component of mitochondrial inner membrane	GO:0031314	9.16	OPA1 COQ8A
4	m-AAA complex	GO:0005745	8.62	SPG7 AFG3L2

Biological processes related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.73	YME1L1 SPG7 PARL AFG3L2
2	mitochondrion organization	GO:0007005	9.56	YME1L1 SPG7 OPA1 AFG3L2
3	cristae formation	GO:0042407	9.4	SPG7 AFG3L2
4	membrane protein proteolysis	GO:0033619	9.37	PARL AFG3L2
5	mitochondrial fusion	GO:0008053	9.33	SPG7 OPA1 AFG3L2
6	calcium import into the mitochondrion	GO:0036444	9.32	OPA1 AFG3L2
7	mitochondrial protein processing	GO:0034982	9.13	YME1L1 SPG7 AFG3L2
8	mitochondrial calcium ion transmembrane transport	GO:0006851	8.92	YME1L1 SPG7 PARL AFG3L2

Molecular functions related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.85	YME1L1 SPG7 SETX OPA1 COQ8A AFG3L2
2	peptidase activity	GO:0008233	9.62	YME1L1 SPG7 PARL AFG3L2
3	hydrolase activity	GO:0016787	9.56	YME1L1 SPG7 SETX PNPLA6 PARL OPA1
4	metallopeptidase activity	GO:0008237	9.43	YME1L1 SPG7 AFG3L2
5	metalloendopeptidase activity	GO:0004222	9.33	YME1L1 SPG7 AFG3L2
6	ATP-dependent peptidase activity	GO:0004176	8.8	YME1L1 SPG7 AFG3L2

Sources

Sources for Spastic Paraplegia 7, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

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²⁰ GARD

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Spastic Paraplegia 7, Autosomal Recessive (SPG7)

Aliases & Classifications for Spastic Paraplegia 7, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 7, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 7, Autosomal Recessive

Related Diseases for Spastic Paraplegia 7, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Diseases related to Spastic Paraplegia 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Comorbidity relations with Spastic Paraplegia 7, Autosomal Recessive via Phenotypic Disease Network (PDN):

Graphical network of the top 20 diseases related to Spastic Paraplegia 7, Autosomal Recessive:

Symptoms & Phenotypes for Spastic Paraplegia 7, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

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Drugs & Therapeutics for Spastic Paraplegia 7, Autosomal Recessive

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Anatomical Context for Spastic Paraplegia 7, Autosomal Recessive

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Genes for Spastic Paraplegia 7, Autosomal Recessive

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Variations for Spastic Paraplegia 7, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 7, Autosomal Recessive:

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 7, Autosomal Recessive:

Expression for Spastic Paraplegia 7, Autosomal Recessive

Pathways for Spastic Paraplegia 7, Autosomal Recessive

Pathways related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

GO Terms for Spastic Paraplegia 7, Autosomal Recessive

Cellular components related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

Biological processes related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

Molecular functions related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Spastic Paraplegia 7, Autosomal Recessive