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

MCID: SPS128 MIFTS: 49	Spastic Paraplegia 7, Autosomal Recessive Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for Spastic Paraplegia 7, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 7, Autosomal Recessive:

Name: Spastic Paraplegia 7, Autosomal Recessive ⁵⁷ ⁷⁵ ¹³ ⁷³

Spastic Paraplegia 7 ²⁴ ⁵³ ²⁵ ²⁹ ⁶

Spg7 ⁵⁷ ¹² ⁵³ ⁵⁹ ⁷⁵

Spastic Paraplegia Type 7 ¹² ²⁵ ⁵⁹ ⁷³

Autosomal Recessive Hereditary Spastic Paraplegia ²⁵ ⁷³

Hereditary Spastic Paraplegia 7 ¹² ¹⁵

Hereditary Spastic Paraplegia ²⁴ ²⁵

Paraplegia, Spastic, Autosomal Recessive, Type 7 ⁴⁰

Hereditary Spastic Paraplegia, Paraplegin Type ²⁵

Hereditary Spastic Paraplegia Paraplegin Type ⁵³

Autosomal Recessive Spastic Paraplegia 7 ¹²

Spastic Paraplegia, Hereditary ⁷³

Paraplegin Type ²⁴

Paraplegin ¹³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

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:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 607259

Disease Ontology ¹² DOID:0110816

ICD10 ³³ G11.4

Orphanet ⁵⁹ ORPHA99013

UMLS via Orphanet ⁷⁴ C1846564 C3711370

ICD10 via Orphanet ³⁴ G11.4

MedGen ⁴² C1846564

MeSH ⁴⁴ D015419

UMLS ⁷³ C1846564 C3711370 C0751603

Sources

Summaries for Spastic Paraplegia 7, Autosomal Recessive

Genetics Home Reference : ²⁵ Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; 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). Spastic paraplegia type 7 can occur in either the pure or complex form.

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spastic paraplegia 7, is related to spastic ataxia and hereditary ataxia, and has symptoms including leg cramps, pain in lower limb and urgency of micturition. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7, Paraplegin Matrix AAA Peptidase Subunit), and among its related pathways/superpathways are Glucose / Energy Metabolism and Mitophagy - animal. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are nystagmus and dysarthria

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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.

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99013Disease definitionAutosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) 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.Visit the Orphanet disease page for more resources.

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.

GeneReviews: NBK1107

Sources

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

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

(show all 40)

#	Related Disease	Score	Top Affiliating Genes
1	spastic ataxia	32.4	AFG3L2 SPG7
2	hereditary ataxia	31.7	AFG3L2 SPG7
3	mitochondrial disorders	30.8	MT-ND4 OPA1 SPG7
4	hutchinson-gilford progeria syndrome	30.8	CYCS SPG7
5	spinocerebellar ataxia 28	30.5	AFG3L2 IMPACT SPG7
6	3-methylglutaconic aciduria, type iii	28.0	MFN1 MFN2 MT-ND4 OPA1 RHBDL1 SPG7
7	paraplegia	11.5
8	hereditary spastic paraplegia	11.5
9	spasticity	11.4
10	autosomal recessive cerebellar ataxia	11.3
11	chronic progressive external ophthalmoplegia	11.3
12	hypoparathyroidism	11.0
13	spastic paraparesis	11.0
14	kbg syndrome	10.9
15	spastic paraplegia 4, autosomal dominant	10.9
16	spastic paraplegia 15, autosomal recessive	10.9
17	spastic paraplegia 20, autosomal recessive	10.9
18	spastic paraplegia 11, autosomal recessive	10.9
19	spastic paraplegia 24, autosomal recessive	10.9
20	spastic paraplegia 32, autosomal recessive	10.9
21	trehalase deficiency	10.9
22	spastic paraplegia 49, autosomal recessive	10.9
23	spastic paraplegia 73, autosomal dominant	10.9
24	spastic paraplegia 76, autosomal recessive	10.9
25	familial hypocalciuric hypercalcemia	10.9
26	mesangial proliferative glomerulonephritis	10.9
27	orthostatic proteinuria	10.9
28	primary lateral sclerosis, adult, 1	10.7
29	scotoma	10.1	MT-ND4 OPA1
30	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	9.8
31	aceruloplasminemia	9.8
32	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2	9.8
33	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3	9.8
34	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4	9.8
35	ataxia-oculomotor apraxia 3	9.8
36	peripheral nervous system disease	9.8	MFN2 MT-ND4
37	cranial nerve disease	9.5	MFN1 MFN2 MT-ND4
38	leber hereditary optic neuropathy	9.5	CYCS MT-ND4 OPA1
39	optic nerve disease	9.1	MFN1 MFN2 MT-ND4 OPA1
40	optic atrophy 1	9.1	CYCS MFN1 MFN2 OPA1

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:

Sources

Symptoms & Phenotypes for Spastic Paraplegia 7, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
optic atrophy
supranuclear palsy

Skeletal Spine:
scoliosis

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

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

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
dysphagia (rare)

Clinical features from OMIM:

607259

Human phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

⁵⁹ ³² (show all 37)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000639
2	dysarthria ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001260
3	dysphagia ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0002015
4	scoliosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002650
5	optic atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000648
6	attention deficit hyperactivity disorder ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007018
7	specific learning disability ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0001328
8	babinski sign ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003487
9	pes cavus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001761
10	cerebral cortical atrophy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002120
11	memory impairment ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0002354
12	ragged-red muscle fibers ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003200
13	nasal speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001611
14	cerebellar atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001272
15	impaired vibration sensation in the lower limbs ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002166
16	lower limb pain ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0012514
17	spastic gait ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002064
18	lower limb hypertonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006895
19	optic disc pallor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000543
20	lower limb muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007340
21	supranuclear gaze palsy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000605
22	upper limb muscle weakness ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003484
23	abnormal mitochondrial morphology ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008322
24	lower limb hyperreflexia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002395
25	abnormality of the cerebral white matter ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002500
26	urinary urgency ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000012
27	slowed slurred speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007164
28	hyperreflexia ³²			HP:0001347
29	abnormal pyramidal signs ⁵⁹		Frequent (79-30%)
30	gait ataxia ³²			HP:0002066
31	urinary bladder sphincter dysfunction ³²			HP:0002839
32	spastic paraplegia ³²			HP:0001258
33	lower limb spasticity ³²			HP:0002061
34	degeneration of the lateral corticospinal tracts ³²			HP:0002314
35	urinary incontinence ³²			HP:0000020
36	abnormality of higher mental function ⁵⁹		Frequent (79-30%)
37	sensory impairment ⁵⁹		Frequent (79-30%)

UMLS symptoms related to Spastic Paraplegia 7, Autosomal Recessive:

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

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.91	AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
2	growth/size/body region	MP:0005378	9.91	AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
3	embryo	MP:0005380	9.8	MFN1 MFN2 OPA1 RHBDL1 AFG3L2 CYCS
4	mortality/aging	MP:0010768	9.76	AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
5	muscle	MP:0005369	9.35	PARL YME1L1 AFG3L2 MFN2 OPA1
6	nervous system	MP:0003631	9.17	AFG3L2 CYCS MFN1 MFN2 OPA1 PARL

Sources

Drugs & Therapeutics for Spastic Paraplegia 7, Autosomal Recessive

Search Clinical Trials , 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	Spastic Paraplegia 7 ²⁹	SPG7

Sources

Anatomical Context for Spastic Paraplegia 7, Autosomal Recessive

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

⁴¹

Brain, Spinal Cord, Eye

Sources

Publications for Spastic Paraplegia 7, Autosomal Recessive

Articles related to Spastic Paraplegia 7, Autosomal Recessive:

#	Title	Authors	Year
1	The MicroRNA-224 Inhibitor Prevents Neuronal Apoptosis via Targeting Spastic Paraplegia 7 After Cerebral Ischemia. ( 27165196 )	Fu F....Qian C.	2016
2	Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). ( 27081526 )	Yahikozawa H....Matsumoto N.	2015
3	Spastic Paraplegia 7 ( 20301286 )	Pagon R.A....Stephens K.	1993

Sources

Genes for Spastic Paraplegia 7, Autosomal Recessive

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

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SPG7	SPG7, Paraplegin Matrix AAA Peptidase Subunit	Protein Coding	1710.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9635427 20301286 9634528 (more) 16534102 17646629 18200586 20186691 22571692
2	YME1L1	YME1 Like 1 ATPase	Protein Coding	16.62	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PARL	Presenilin Associated Rhomboid Like	Protein Coding	16.47	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	16.07	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	OPA1	OPA1, Mitochondrial Dynamin Like GTPase	Protein Coding	15.45	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MFN2	Mitofusin 2	Protein Coding	14.79	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	14.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	CYCS	Cytochrome C, Somatic	Protein Coding	13.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	RHBDL1	Rhomboid Like 1	Protein Coding	6.68	DISEASES inferred ¹⁵
10	IMPACT	Impact RWD Domain Protein	Protein Coding	5.78	DISEASES inferred ¹⁵
11	MFN1	Mitofusin 1	Protein Coding	5.42	DISEASES inferred ¹⁵

Sources

Variations for Spastic Paraplegia 7, Autosomal Recessive

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

⁷⁵

#	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

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

⁶

(show top 50) (show all 140)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SPG7	SPG7, 2-BP DEL, NT784	deletion	Pathogenic
2	SPG7	SPG7, 1-BP INS, 2228A	insertion	Pathogenic
3	SPG7	SPG7, 9.5-KB DEL	deletion	Pathogenic
4	SPG7	SPG7, 2-BP DEL, 1-BP INS, 850	indel	Pathogenic
5	SPG7	SPG7, 3-BP DEL, 1742TGG	deletion	Pathogenic
6	SPG7	NM_003119.3(SPG7): c.2075G> C (p.Ser692Thr)	single nucleotide variant	Pathogenic	rs121918357	GRCh37	Chromosome 16, 89620340: 89620340
7	SPG7	NM_003119.3(SPG7): c.2075G> C (p.Ser692Thr)	single nucleotide variant	Pathogenic	rs121918357	GRCh38	Chromosome 16, 89553932: 89553932
8	SPG7	NM_003119.3(SPG7): c.233T> A (p.Leu78Ter)	single nucleotide variant	Pathogenic	rs121918358	GRCh37	Chromosome 16, 89576947: 89576947
9	SPG7	NM_003119.3(SPG7): c.233T> A (p.Leu78Ter)	single nucleotide variant	Pathogenic	rs121918358	GRCh38	Chromosome 16, 89510539: 89510539
10	SPG7	SPG7, 1-BP DEL, 1616C	deletion	Pathogenic
11	SPG7	SPG7, 5.1-KB DEL	deletion	Pathogenic
12	SPG7	NM_003119.3(SPG7): c.1045G> A (p.Gly349Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs141659620	GRCh37	Chromosome 16, 89598369: 89598369
13	SPG7	NM_003119.3(SPG7): c.1045G> A (p.Gly349Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs141659620	GRCh38	Chromosome 16, 89531961: 89531961
14	SPG7	NM_003119.3(SPG7): c.1749G> C (p.Trp583Cys)	single nucleotide variant	Pathogenic	rs267607085	GRCh37	Chromosome 16, 89616987: 89616987
15	SPG7	NM_003119.3(SPG7): c.1749G> C (p.Trp583Cys)	single nucleotide variant	Pathogenic	rs267607085	GRCh38	Chromosome 16, 89550579: 89550579
16	SPG7	NM_003119.3(SPG7): c.1529C> T (p.Ala510Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs61755320	GRCh37	Chromosome 16, 89613145: 89613145
17	SPG7	NM_003119.3(SPG7): c.1529C> T (p.Ala510Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs61755320	GRCh38	Chromosome 16, 89546737: 89546737
18	SPG7	NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter)	single nucleotide variant	Pathogenic	rs369227537	GRCh38	Chromosome 16, 89550502: 89550502
19	SPG7	NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter)	single nucleotide variant	Pathogenic	rs369227537	GRCh37	Chromosome 16, 89616910: 89616910
20	SPG7	NM_003119.3(SPG7): c.1A> G (p.Met1Val)	single nucleotide variant	Likely pathogenic	rs794726906	GRCh37	Chromosome 16, 89574826: 89574826
21	SPG7	NM_003119.3(SPG7): c.1A> G (p.Met1Val)	single nucleotide variant	Likely pathogenic	rs794726906	GRCh38	Chromosome 16, 89508418: 89508418
22	SPG7	NM_003119.3(SPG7): c.861dupT (p.Asn288Terfs)	duplication	Pathogenic	rs797046003	GRCh37	Chromosome 16, 89595987: 89595987
23	SPG7	NM_003119.3(SPG7): c.861dupT (p.Asn288Terfs)	duplication	Pathogenic	rs797046003	GRCh38	Chromosome 16, 89529579: 89529579
24	SPG7	NM_003119.3(SPG7): c.413A> C (p.Tyr138Ser)	single nucleotide variant	Uncertain significance	rs377268309	GRCh37	Chromosome 16, 89590450: 89590450
25	SPG7	NM_003119.3(SPG7): c.413A> C (p.Tyr138Ser)	single nucleotide variant	Uncertain significance	rs377268309	GRCh38	Chromosome 16, 89524042: 89524042
26	SPG7	NM_003119.3(SPG7): c.584A> G (p.Tyr195Cys)	single nucleotide variant	Uncertain significance	rs145776296	GRCh37	Chromosome 16, 89590621: 89590621
27	SPG7	NM_003119.3(SPG7): c.584A> G (p.Tyr195Cys)	single nucleotide variant	Uncertain significance	rs145776296	GRCh38	Chromosome 16, 89524213: 89524213
28	SPG7	NM_003119.3(SPG7): c.1653C> T (p.Arg551=)	single nucleotide variant	Benign	rs56031686	GRCh38	Chromosome 16, 89548103: 89548103
29	SPG7	NM_003119.3(SPG7): c.1653C> T (p.Arg551=)	single nucleotide variant	Benign	rs56031686	GRCh37	Chromosome 16, 89614511: 89614511
30	SPG7	NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr)	single nucleotide variant	Uncertain significance	rs2099104	GRCh37	Chromosome 16, 89619540: 89619540
31	SPG7	NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr)	single nucleotide variant	Uncertain significance	rs2099104	GRCh38	Chromosome 16, 89553132: 89553132
32	SPG7	NM_003119.3(SPG7): c.2188A> G (p.Asn730Asp)	single nucleotide variant	Benign/Likely benign	rs35749032	GRCh38	Chromosome 16, 89556893: 89556893
33	SPG7	NM_003119.3(SPG7): c.2188A> G (p.Asn730Asp)	single nucleotide variant	Benign/Likely benign	rs35749032	GRCh37	Chromosome 16, 89623301: 89623301
34	SPG7	NM_003119.3(SPG7): c.2228T> C (p.Ile743Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs752623413	GRCh37	Chromosome 16, 89623341: 89623341
35	SPG7	NM_003119.3(SPG7): c.2228T> C (p.Ile743Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs752623413	GRCh38	Chromosome 16, 89556933: 89556933
36	SPG7	NM_003119.3(SPG7): c.2275G> A (p.Ala759Thr)	single nucleotide variant	Uncertain significance	rs140769107	GRCh37	Chromosome 16, 89623388: 89623388
37	SPG7	NM_003119.3(SPG7): c.2275G> A (p.Ala759Thr)	single nucleotide variant	Uncertain significance	rs140769107	GRCh38	Chromosome 16, 89556980: 89556980
38	SPG7	NM_003119.3(SPG7): c.1996G> C (p.Gly666Arg)	single nucleotide variant	Uncertain significance	rs752989523	GRCh38	Chromosome 16, 89553853: 89553853
39	SPG7	NG_008082.1: g.20862_20919del58	deletion	Benign/Likely benign		GRCh38	Chromosome 16, 89524258: 89524315
40	SPG7	NG_008082.1: g.20862_20919del58	deletion	Benign/Likely benign		GRCh37	Chromosome 16, 89590666: 89590723
41	SPG7	NM_003119.3(SPG7): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs748555510	GRCh37	Chromosome 16, 89611139: 89611139
42	SPG7	NM_003119.3(SPG7): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs748555510	GRCh38	Chromosome 16, 89544731: 89544731
43	SPG7	NM_003119.3(SPG7): c.1996G> C (p.Gly666Arg)	single nucleotide variant	Uncertain significance	rs752989523	GRCh37	Chromosome 16, 89620261: 89620261
44	SPG7	NM_003119.3(SPG7): c.1729G> A (p.Gly577Ser)	single nucleotide variant	Likely pathogenic	rs72547552	GRCh38	Chromosome 16, 89550559: 89550559
45	SPG7	NM_003119.3(SPG7): c.1729G> A (p.Gly577Ser)	single nucleotide variant	Likely pathogenic	rs72547552	GRCh37	Chromosome 16, 89616967: 89616967
46	SPG7	NM_003119.3(SPG7): c.2120delTinsCCAAGTCTGTA (p.Val707Alafs)	indel	no interpretation for the single variant	rs863224924	GRCh38	Chromosome 16, 89554502: 89554502
47	SPG7	NM_003119.3(SPG7): c.2120delTinsCCAAGTCTGTA (p.Val707Alafs)	indel	no interpretation for the single variant	rs863224924	GRCh37	Chromosome 16, 89620910: 89620910
48	SPG7	NM_003119.3(SPG7): c.473_474delTC (p.Leu158Glnfs)	deletion	Pathogenic	rs879253798	GRCh37	Chromosome 16, 89590510: 89590511
49	SPG7	NM_003119.3(SPG7): c.473_474delTC (p.Leu158Glnfs)	deletion	Pathogenic	rs879253798	GRCh38	Chromosome 16, 89524102: 89524103
50	SPG7	NM_003119.3(SPG7): c.988-1G> A	single nucleotide variant	Pathogenic	rs748309520	GRCh37	Chromosome 16, 89598311: 89598311

Sources

Expression for Spastic Paraplegia 7, Autosomal Recessive

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

Sources

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	Glucose / Energy Metabolism ⁴	11.62	MFN1 MFN2 OPA1
2	Mitophagy - animal ³⁷	10.97	MFN1 MFN2
3	Pink/Parkin Mediated Mitophagy ⁶⁶ Show member pathways Mitophagy ⁶⁶	10.29	MFN1 MFN2

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	integral component of membrane	GO:0016021	9.97	AFG3L2 MFN1 MFN2 MT-ND4 OPA1 PARL
2	mitochondrion	GO:0005739	9.61	AFG3L2 CYCS MFN1 MFN2 MT-ND4 OPA1
3	mitochondrial outer membrane	GO:0005741	9.54	MFN1 MFN2 OPA1
4	respiratory chain	GO:0070469	9.43	CYCS MT-ND4
5	axon cytoplasm	GO:1904115	9.4	OPA1 SPG7
6	m-AAA complex	GO:0005745	9.26	AFG3L2 SPG7
7	mitochondrial inner membrane	GO:0005743	9.17	AFG3L2 CYCS MT-ND4 OPA1 PARL SPG7
8	intrinsic component of mitochondrial outer membrane	GO:0031306	9.16	MFN1 MFN2

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	9.77	AFG3L2 PARL RHBDL1 SPG7 YME1L1
2	mitochondrion organization	GO:0007005	9.55	AFG3L2 CYCS OPA1 SPG7 YME1L1
3	GTP metabolic process	GO:0046039	9.43	MFN1 OPA1
4	calcium import into the mitochondrion	GO:0036444	9.4	AFG3L2 OPA1
5	mitochondrion localization	GO:0051646	9.32	MFN1 MFN2
6	mitochondrial protein processing	GO:0034982	9.26	AFG3L2 YME1L1
7	mitochondrial calcium ion transmembrane transport	GO:0006851	9.26	AFG3L2 PARL SPG7 YME1L1
8	mitochondrial fusion	GO:0008053	8.92	AFG3L2 MFN1 MFN2 OPA1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	GTPase activity	GO:0003924	9.5	MFN1 MFN2 OPA1
2	metallopeptidase activity	GO:0008237	9.43	AFG3L2 SPG7 YME1L1
3	peptidase activity	GO:0008233	9.35	AFG3L2 PARL RHBDL1 SPG7 YME1L1
4	metalloendopeptidase activity	GO:0004222	9.33	AFG3L2 SPG7 YME1L1
5	hydrolase activity	GO:0016787	9.23	AFG3L2 MFN1 MFN2 OPA1 PARL RHBDL1

Sources

Sources for Spastic Paraplegia 7, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia