Spastic Paraplegia 12, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPG12 MCID: SPS131 MIFTS: 40	Spastic Paraplegia 12, Autosomal Dominant (SPG12) 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
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Aliases & Classifications for Spastic Paraplegia 12, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 12, Autosomal Dominant:

Name: Spastic Paraplegia 12, Autosomal Dominant ⁵⁶ ⁷³ ¹³ ⁷¹

Hereditary Spastic Paraplegia 12 ¹² ²⁹ ⁶ ¹⁵

Spg12 ⁵⁶ ¹² ⁵⁸ ⁷³

Autosomal Dominant Spastic Paraplegia Type 12 ¹² ⁵⁸

Paraplegia, Spastic, Autosomal Dominant, Type 12 ³⁹

Autosomal Dominant Spastic Paraplegia 12 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

autosomal dominant spastic paraplegia type 12
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
later onset has been reported
age of onset 5 to 22 years (mean 6.9)

HPO:

³¹

spastic paraplegia 12, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive

Classifications:

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

External Ids:

Disease Ontology ¹² DOID:0110765

OMIM ⁵⁶ 604805

OMIM Phenotypic Series ⁵⁶ PS303350

MeSH ⁴³ D015419

ICD10 ³² G11.4

MESH via Orphanet ⁴⁴ C537484

ICD10 via Orphanet ³³ G11.4

UMLS via Orphanet ⁷² C1858106

Orphanet ⁵⁸ ORPHA100993

MedGen ⁴¹ C1858106

UMLS ⁷¹ C1858106

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Summaries for Spastic Paraplegia 12, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷³ Spastic paraplegia 12, autosomal dominant: 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.

MalaCards based summary : Spastic Paraplegia 12, Autosomal Dominant, also known as hereditary spastic paraplegia 12, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 12, Autosomal Dominant is RTN2 (Reticulon 2), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include spinal cord, and related phenotypes are progressive spastic paraplegia and difficulty walking

Disease Ontology : ¹² A hereditary spastic paraplegia that has material basis in mutation in the RTN2 gene on chromosome 19q13.

OMIM : ⁵⁶ Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. The age at onset is variable and can range from childhood to adulthood (summary by Montenegro et al., 2012). For a general description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (604805)

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Related Diseases for Spastic Paraplegia 12, Autosomal Dominant

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 12, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)

#	Related Disease	Score	Top Affiliating Genes
1	paraplegia	25.1	ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
2	hereditary spastic paraplegia	25.1	ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
3	spastic paraplegia 12	11.5
4	spinal cord neuroblastoma	10.3	ZFYVE27 REEP1
5	spinal cord primitive neuroectodermal neoplasm	10.3	ZFYVE27 REEP1
6	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	10.2	RTN2 AP5Z1
7	neuropathy, hereditary sensory, type id	10.2	KIF5A ATL1
8	complex hereditary spastic paraplegia	10.1	SPG11 NIPA1
9	spastic paraplegia 28, autosomal recessive	10.0	SPG11 REEP1 AP5Z1
10	spasticity	10.0	WASHC5 SPAST REEP1
11	spastic paraplegia, optic atrophy, and neuropathy	10.0	WASHC5 AP5Z1
12	spastic paraplegia 57, autosomal recessive	10.0	SPG11 REEP1 KIF5A
13	spastic paraparesis	9.9	SPG11 SPAST
14	autosomal dominant distal hereditary motor neuronopathy	9.9	REEP1 ATL1
15	spastic paraplegia 41, autosomal dominant	9.9	SPG21 SPAST
16	spastic paraplegia 27, autosomal recessive	9.8	SPG21 REEP1
17	spastic paraplegia 53, autosomal recessive	9.8	WASHC5 RTN2 ATL1 AP5Z1
18	neuronopathy, distal hereditary motor, type va	9.8	RTN2 REEP2 REEP1 ATL1
19	spastic paraplegia 64, autosomal recessive	9.8	SPG21 SPG11
20	neurodegeneration with brain iron accumulation 5	9.7	ZFYVE26 SPG11
21	spastic paraplegia 73, autosomal dominant	9.7	SPG21 REEP1 ATL1
22	spastic paraplegia 45, autosomal recessive	9.7	SPG21 SPG11
23	amyotrophic lateral sclerosis type 5	9.7	ZFYVE26 SPG11 AP5Z1
24	spastic paraplegia 63, autosomal recessive	9.7	SPG21 SPG11
25	mast syndrome	9.6	ZFYVE27 SPG21 SPG11
26	axonal neuropathy	9.6	ZFYVE26 SPG11 KIF5A
27	spastic paraplegia 43, autosomal recessive	9.6	WASHC5 SPG11 SPAST ATL1 ARL6IP1
28	spastic paraplegia 32, autosomal recessive	9.6	WASHC5 SPG21 SPG11
29	charcot-marie-tooth disease, axonal, type 2r	9.6	ZFYVE26 SPG21
30	neuropathy, hereditary sensory, type iic	9.5	SPG21 SPG11 RTN2 REEP1
31	motor peripheral neuropathy	9.5	ZFYVE26 SPG11 REEP1 KIF5A
32	spastic paraplegia 14, autosomal recessive	9.5	SPG21 SPG11 SPAST ATL1
33	pure hereditary spastic paraplegia	9.5	SPAST RTN2 NIPA1 KIF5A ATL1
34	spastic paraplegia 54, autosomal recessive	9.4	SPG21 SPG11 REEP1 AP5Z1
35	charcot-marie-tooth disease, axonal, type 2t	9.4	ZFYVE26 SPG21
36	spastic paraplegia 11, autosomal recessive	9.4	SPG21 SPG11 SPAST AP5Z1
37	spastic paraplegia 49, autosomal recessive	9.4	ZFYVE26 SPG21 SPG11
38	spastic paraplegia 55, autosomal recessive	9.4	ZFYVE26 SPG21 SPG11
39	spastic paraplegia 29, autosomal dominant	9.4	ZFYVE26 WASHC5 SPG21
40	spastic paraplegia 25, autosomal recessive	9.4	ZFYVE26 WASHC5 SPG21
41	spastic paraplegia 19, autosomal dominant	9.4	ZFYVE26 WASHC5 SPG21
42	spastic paraplegia 34, x-linked	9.4	ZFYVE26 WASHC5 SPG21
43	autosomal dominant non-syndromic intellectual disability 9	9.4	ZFYVE26 RTN2 REEP1 KIF5A AP5Z1
44	spastic paraplegia 37, autosomal dominant	9.2	ZFYVE26 WASHC5 SPG21 REEP1
45	spastic paraplegia 56, autosomal recessive	9.2	ZFYVE26 SPG21 SPG11 AP5Z1
46	hereditary spastic paraplegia 23	9.1	ZFYVE26 WASHC5 SPG21 SPG11
47	spastic paraplegia 5a, autosomal recessive	9.1	ZFYVE26 SPG11 SPAST REEP2 KIF5A
48	hereditary spastic paraplegia 51	9.0	ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
49	spastic paraplegia 52, autosomal recessive	9.0	ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
50	spastic paraplegia 50, autosomal recessive	9.0	ZFYVE26 SPG21 SPG11 RTN2 AP5Z1

Graphical network of the top 20 diseases related to Spastic Paraplegia 12, Autosomal Dominant:

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Symptoms & Phenotypes for Spastic Paraplegia 12, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 12, Autosomal Dominant:

⁵⁸ ³¹ (show all 31)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	progressive spastic paraplegia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007020
2	difficulty walking ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002355
3	lower limb muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007340
4	degeneration of the lateral corticospinal tracts ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002314
5	clonus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002169
6	babinski sign ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003487
7	impaired proprioception ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010831
8	muscle spasm ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003394
9	urinary incontinence ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000020
10	spastic gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002064
11	spinal cord lesion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100561
12	urinary urgency ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000012
13	limb ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002070
14	female sexual dysfunction ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030014
15	impaired vibration sensation in the lower limbs ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002166
16	lower limb amyotrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007210
17	progressive pes cavus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008075
18	male sexual dysfunction ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0040307
19	bowel incontinence ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002607
20	hyperreflexia in upper limbs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007350
21	hyperreflexia ⁵⁸ ³¹		Very frequent (99-80%)	HP:0001347
22	seizures ⁵⁸		Excluded (0%)
23	emg abnormality ⁵⁸		Excluded (0%)
24	pes cavus ³¹			HP:0001761
25	spastic paraplegia ³¹			HP:0001258
26	lower limb spasticity ⁵⁸		Very frequent (99-80%)
27	ankle clonus ³¹			HP:0011448
28	urinary bladder sphincter dysfunction ³¹			HP:0002839
29	abnormality of the cerebrospinal fluid ⁵⁸		Excluded (0%)
30	abnormal lower-limb motor evoked potentials ⁵⁸		Excluded (0%)
31	knee clonus ³¹			HP:0011449

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
extensor plantar responses
lower limb weakness
more

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs

Clinical features from OMIM:

604805

UMLS symptoms related to Spastic Paraplegia 12, Autosomal Dominant:

urgency of micturition

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Drugs & Therapeutics for Spastic Paraplegia 12, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 12, Autosomal Dominant

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Genetic Tests for Spastic Paraplegia 12, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 12, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Hereditary Spastic Paraplegia 12 ²⁹	RTN2

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Anatomical Context for Spastic Paraplegia 12, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 12, Autosomal Dominant:

⁴⁰

Spinal Cord

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Publications for Spastic Paraplegia 12, Autosomal Dominant

Articles related to Spastic Paraplegia 12, Autosomal Dominant:

(show all 13)

#	Title	Authors	PMID	Year
1	Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. ⁵⁶ ⁶ ⁶¹	Montenegro G...Zuchner S	22232211	2012
2	Clinical and genetic study of a large Italian family linked to SPG12 locus. ⁶ ⁶¹ ⁵⁶	Orlacchio A...St George-Hyslop PH	12427890	2002
3	A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. ⁵⁶ ⁶ ⁶¹	Reid E...Rubinsztein DC	10677333	2000
4	Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. ⁶ ⁵⁶	van de Warrenburg BP...Kamsteeg EJ	27165006	2016
5	Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. ⁵⁶ ⁶¹	Ashley-Koch A...Pericak-Vance MA	11354831	2001
6	Hereditary Spastic Paraplegia Overview ⁶	Hedera P	20301682	2000
7	The effects of ER morphology on synaptic structure and function in Drosophila melanogaster. ⁶¹	Summerville JB...McNew JA	26906425	2016
8	Rare disease models provide insight into inherited forms of neurodegeneration. ⁶¹	Fowler PC...O'Sullivan NC	28603788	2016
9	Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. ⁶¹	Hashimoto Y...Nakayama KI	24668814	2014
10	Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. ⁶¹	Chang J...Blackstone C	23969831	2013
11	Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. ⁶¹	Fink JK	23897027	2013
12	Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. ⁶¹	Finsterer J...Stevanin G	22554690	2012
13	A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. ⁶¹	Zhao GH...Tang BS	18364116	2008

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Genes for Spastic Paraplegia 12, Autosomal Dominant

Genes related to Spastic Paraplegia 12, Autosomal Dominant (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RTN2	Reticulon 2	Protein Coding	1686.02	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	27165006 12427890 10677333 (more) 22232211
2	REEP1	Receptor Accessory Protein 1	Protein Coding	8.34	DISEASES inferred ¹⁵
3	ATL1	Atlastin GTPase 1	Protein Coding	8.33	DISEASES inferred ¹⁵
4	SPAST	Spastin	Protein Coding	7.86	DISEASES inferred ¹⁵
5	ZFYVE27	Zinc Finger FYVE-Type Containing 27	Protein Coding	7.35	DISEASES inferred ¹⁵
6	ARL6IP1	ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1	Protein Coding	7.25	DISEASES inferred ¹⁵
7	SPG11	SPG11 Vesicle Trafficking Associated, Spatacsin	Protein Coding	7.12	DISEASES inferred ¹⁵
8	AP5Z1	Adaptor Related Protein Complex 5 Subunit Zeta 1	Protein Coding	7.1	DISEASES inferred ¹⁵
9	WASHC5	WASH Complex Subunit 5	Protein Coding	6.92	DISEASES inferred ¹⁵
10	KIF5A	Kinesin Family Member 5A	Protein Coding	6.9	DISEASES inferred ¹⁵
11	NIPA1	NIPA Magnesium Transporter 1	Protein Coding	6.77	DISEASES inferred ¹⁵
12	ZFYVE26	Zinc Finger FYVE-Type Containing 26	Protein Coding	6.72	DISEASES inferred ¹⁵
13	SPG21	SPG21 Abhydrolase Domain Containing, Maspardin	Protein Coding	6.72	DISEASES inferred ¹⁵
14	REEP2	Receptor Accessory Protein 2	Protein Coding	6.57	DISEASES inferred ¹⁵

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Variations for Spastic Paraplegia 12, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:

⁶ (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RTN2	NM_005619.5(RTN2):c.939del (p.Thr314fs)	deletion	Pathogenic	378054	rs768449676	19:45996512-45996512	19:45493254-45493254
2	RTN2	NM_005619.5(RTN2):c.178dup (p.Arg60fs)	duplication	Pathogenic	30324		19:45998164-45998165	19:45494906-45494907
3	RTN2	RTN2, DEL	deletion	Pathogenic	30325
4	RTN2	NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe)	SNV	Pathogenic	30326	rs140494585	19:45992745-45992745	19:45489487-45489487
5	RTN2	NM_206900.3(RTN2):c.814+791_814+801del	deletion	Likely pathogenic	633397	rs1568624823	19:45996623-45996633	19:45493365-45493375
6	RTN2	NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)	SNV	Conflicting interpretations of pathogenicity	653220		19:45988974-45988974	19:45485716-45485716
7	RTN2	NM_005619.5(RTN2):c.938dup (p.Thr314fs)	duplication	Uncertain significance	548603	rs748397131	19:45996512-45996513	19:45493254-45493255
8	RTN2	NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr)	SNV	Uncertain significance	893522		19:45991924-45991924	19:45488666-45488666
9	RTN2	NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp)	SNV	Uncertain significance	893523		19:45992147-45992147	19:45488889-45488889
10	RTN2	NM_005619.5(RTN2):c.1185G>A (p.Arg395=)	SNV	Uncertain significance	893821		19:45992660-45992660	19:45489402-45489402
11	RTN2	NM_005619.5(RTN2):c.1181T>G (p.Leu394Arg)	SNV	Uncertain significance	893822		19:45992664-45992664	19:45489406-45489406
12	RTN2	NM_005619.5(RTN2):c.1497+3G>A	SNV	Uncertain significance	893521		19:45991726-45991726	19:45488468-45488468
13	RTN2	NM_005619.5(RTN2):c.1241+3G>A	SNV	Uncertain significance	893524		19:45992601-45992601	19:45489343-45489343
14	RTN2	NM_005619.5(RTN2):c.1034-13C>T	SNV	Uncertain significance	893823		19:45992824-45992824	19:45489566-45489566
15	RTN2	NM_005619.5(RTN2):c.*148G>A	SNV	Uncertain significance	329545	rs886054503	19:45988818-45988818	19:45485560-45485560
16	RTN2	NM_005619.5(RTN2):c.*300G>C	SNV	Uncertain significance	329542	rs532093070	19:45988666-45988666	19:45485408-45485408
17	RTN2	NM_005619.5(RTN2):c.*270C>T	SNV	Uncertain significance	329543	rs527298509	19:45988696-45988696	19:45485438-45485438
18	RTN2	NM_005619.5(RTN2):c.*344C>T	SNV	Uncertain significance	329541	rs375889892	19:45988622-45988622	19:45485364-45485364
19	RTN2	NM_005619.5(RTN2):c.*51T>C	SNV	Likely benign	329546	rs569611116	19:45988915-45988915	19:45485657-45485657
20	RTN2	NM_005619.5(RTN2):c.986G>A (p.Ser329Asn)	SNV	Likely benign	329550	rs145653668	19:45996465-45996465	19:45493207-45493207
21	RTN2	NM_005619.5(RTN2):c.1607C>T (p.Ala536Val)	SNV	Likely benign	893520		19:45988997-45988997	19:45485739-45485739

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RTN2	p.Ser367Phe	VAR_067562	rs140494585

Sources

Expression for Spastic Paraplegia 12, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 12, Autosomal Dominant.

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Pathways for Spastic Paraplegia 12, Autosomal Dominant

Pathways related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Endocytosis ³⁶	11.32	ZFYVE27 WASHC5 SPG21 KIF5A

Sources

GO Terms for Spastic Paraplegia 12, Autosomal Dominant

Cellular components related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.11	ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
2	endoplasmic reticulum membrane	GO:0005789	9.7	ZFYVE27 SPAST RTN2 REEP2 REEP1 ATL1
3	endosome	GO:0005768	9.65	ZFYVE27 WASHC5 SPG21 SPAST NIPA1
4	endoplasmic reticulum	GO:0005783	9.56	ZFYVE27 WASHC5 SPAST RTN2 REEP2 REEP1
5	integral component of endoplasmic reticulum membrane	GO:0030176	9.5	ZFYVE27 RTN2 ARL6IP1
6	endoplasmic reticulum tubular network	GO:0071782	8.92	ZFYVE27 REEP2 REEP1 ATL1

Biological processes related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosome organization	GO:0007040	9.37	WASHC5 SPG11
2	synaptic vesicle transport	GO:0048489	9.32	SPG11 KIF5A
3	endoplasmic reticulum tubular network organization	GO:0071786	9.26	REEP2 REEP1
4	endoplasmic reticulum tubular network membrane organization	GO:1990809	9.16	ATL1 ARL6IP1
5	endoplasmic reticulum tubular network formation	GO:0071787	8.96	ZFYVE27 ARL6IP1
6	regulation of intracellular transport	GO:0032386	8.62	REEP2 REEP1

Molecular functions related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	microtubule binding	GO:0008017	8.92	SPAST REEP2 REEP1 KIF5A

Sources

Sources for Spastic Paraplegia 12, Autosomal Dominant

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 EFO

¹⁸ ExPASy

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 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

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spastic Paraplegia 12, Autosomal Dominant (SPG12)

Aliases & Classifications for Spastic Paraplegia 12, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 12, Autosomal Dominant:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 12, Autosomal Dominant

Related Diseases for Spastic Paraplegia 12, Autosomal Dominant

Diseases in the Spastic Paraplegia 3a family:

Diseases related to Spastic Paraplegia 12, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spastic Paraplegia 12, Autosomal Dominant:

Symptoms & Phenotypes for Spastic Paraplegia 12, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 12, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spastic Paraplegia 12, Autosomal Dominant:

Drugs & Therapeutics for Spastic Paraplegia 12, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 12, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 12, Autosomal Dominant:

Anatomical Context for Spastic Paraplegia 12, Autosomal Dominant

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Genes for Spastic Paraplegia 12, Autosomal Dominant

Genes related to Spastic Paraplegia 12, Autosomal Dominant (1 elite genes):

Variations for Spastic Paraplegia 12, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:

Expression for Spastic Paraplegia 12, Autosomal Dominant

Pathways for Spastic Paraplegia 12, Autosomal Dominant

Pathways related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

GO Terms for Spastic Paraplegia 12, Autosomal Dominant

Cellular components related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

Biological processes related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

Molecular functions related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

Sources for Spastic Paraplegia 12, Autosomal Dominant