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

SPG12 MCID: SPS131 MIFTS: 37	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, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁵⁸ ⁷⁶ ¹³ ⁷⁴

Spg12 ⁵⁸ ¹² ⁶⁰ ⁷⁶

Autosomal Dominant Spastic Paraplegia Type 12 ¹² ⁶⁰

Hereditary Spastic Paraplegia 12 ¹² ¹⁵

Paraplegia, Spastic, Autosomal Dominant, Type 12 ⁴¹

Autosomal Dominant Spastic Paraplegia 12 ¹²

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0110765

OMIM ⁵⁸ 604805

MeSH ⁴⁵ D015419

ICD10 ³⁴ G11.4

MESH via Orphanet ⁴⁶ C537484

ICD10 via Orphanet ³⁵ G11.4

UMLS via Orphanet ⁷⁵ C1858106

Orphanet ⁶⁰ ORPHA100993

MedGen ⁴³ C1858106

UMLS ⁷⁴ C1858106

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Summaries for Spastic Paraplegia 12, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷⁶ 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 spg12, is related to spastic paraplegia 12 and hereditary spastic paraplegia 51, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 12, Autosomal Dominant is RTN2 (Reticulon 2). Affiliated tissues include spinal cord, skin and bone, and related phenotypes are difficulty walking and lower limb muscle weakness

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

OMIM : ⁵⁸ 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 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	Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia	Hereditary Spastic Paraplegia 23
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 47
Spastic Paraplegia 51	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 all 29)

#	Related Disease	Score	Top Affiliating Genes
1	spastic paraplegia 12	11.4
2	hereditary spastic paraplegia 51	10.1	AP5Z1 RTN2
3	spastic paraplegia 50, autosomal recessive	10.1	AP5Z1 RTN2
4	spastic paraplegia 52, autosomal recessive	10.0	AP5Z1 RTN2
5	spastic paraplegia 10	10.0	KIF5A SPAST
6	spastic paraplegia 28, autosomal recessive	10.0	AP5Z1 RTN2
7	spastic paraplegia 44, autosomal recessive	10.0	AP5Z1 ZFYVE27
8	spastic paraplegia 54, autosomal recessive	10.0	AP5Z1 RTN2
9	spastic paraplegia 56, autosomal recessive	9.9	AP5Z1 RTN2
10	spastic paraplegia 48, autosomal recessive	9.7	AP5Z1 ERLIN2
11	spastic paraplegia 61, autosomal recessive	9.6	ATL1 REEP1 RTN2 SPAST
12	spastic paraplegia 18, autosomal recessive	9.6	AP5Z1 ERLIN2 REEP1
13	spastic paraplegia 47, autosomal recessive	9.6	AP5Z1 ERLIN2 REEP1
14	spastic paraplegia 39, autosomal recessive	9.6	AP5Z1 ERLIN2 REEP1
15	spastic paraplegia 30, autosomal recessive	9.6	AP5Z1 ERLIN2 REEP1
16	spastic paraplegia 42, autosomal dominant	9.6	AP5Z1 ERLIN2 REEP1
17	masa syndrome	9.5	AP5Z1 ATL1 REEP1 SPAST
18	spastic paraplegia 35, autosomal recessive	9.5	AP5Z1 ERLIN2
19	spastic paraplegia 2, x-linked	9.4	AP5Z1 ATL1 REEP1 RTN2 ZFYVE27
20	spastic paraplegia 8, autosomal dominant	9.4	AP5Z1 ATL1 ERLIN2 REEP1
21	spastic paraplegia 3, autosomal dominant	9.4	ATL1 REEP1 RTN2 SPAST ZFYVE27
22	spastic paraplegia 33, autosomal dominant	9.3	AP5Z1 REEP1 RTN2 SPAST ZFYVE27
23	spastic paraplegia 13, autosomal dominant	9.3	AP5Z1 ATL1 ERLIN2 SPAST
24	spastic paraplegia 10, autosomal dominant	9.1	AP5Z1 ATL1 KIF5A REEP1 RTN2 ZFYVE27
25	spastic paraplegia 31, autosomal dominant	9.1	AP5Z1 ATL1 REEP1 RTN2 SPAST ZFYVE27
26	spastic paraplegia 4, autosomal dominant	8.9	ATL1 ERLIN2 REEP1 RTN2 SPAST ZFYVE27
27	spastic paraplegia 6, autosomal dominant	8.8	AP5Z1 ATL1 ERLIN2 KIF5A REEP1 SPAST
28	paraplegia	8.3	AP5Z1 ATL1 ERLIN2 KIF5A REEP1 RTN2
29	hereditary spastic paraplegia	8.3	AP5Z1 ATL1 ERLIN2 KIF5A REEP1 RTN2

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:

⁶⁰ ³³ (show all 32)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	difficulty walking ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002355
2	lower limb muscle weakness ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007340
3	degeneration of the lateral corticospinal tracts ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002314
4	progressive spastic paraplegia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007020
5	clonus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002169
6	limb ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002070
7	babinski sign ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003487
8	impaired proprioception ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0010831
9	impaired vibration sensation in the lower limbs ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002166
10	spinal cord lesion ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0100561
11	urinary urgency ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000012
12	spastic gait ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002064
13	progressive pes cavus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008075
14	urinary incontinence ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000020
15	lower limb amyotrophy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007210
16	female sexual dysfunction ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0030014
17	male sexual dysfunction ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0040307
18	muscle spasm ³³	frequent (33%)		HP:0003394
19	bowel incontinence ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002607
20	hyperreflexia in upper limbs ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0007350
21	hyperreflexia ⁶⁰ ³³		Very frequent (99-80%)	HP:0001347
22	seizures ⁶⁰		Excluded (0%)
23	emg abnormality ⁶⁰		Excluded (0%)
24	pes cavus ³³			HP:0001761
25	urinary bladder sphincter dysfunction ³³			HP:0002839
26	muscle cramps ⁶⁰		Frequent (79-30%)
27	spastic paraplegia ³³			HP:0001258
28	lower limb spasticity ⁶⁰		Very frequent (99-80%)
29	ankle clonus ³³			HP:0011448
30	abnormality of the cerebrospinal fluid ⁶⁰		Excluded (0%)
31	abnormal lower-limb motor evoked potentials ⁶⁰		Excluded (0%)
32	knee clonus ³³			HP:0011449

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Genitourinary Bladder:
urinary urgency
urinary incontinence
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

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Anatomical Context for Spastic Paraplegia 12, Autosomal Dominant

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

⁴²

Spinal Cord, Skin, Bone, Eye

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Publications for Spastic Paraplegia 12, Autosomal Dominant

Articles related to Spastic Paraplegia 12, Autosomal Dominant:

#	Title	Authors	Year
1	Clinical and genetic study of a large Italian family linked to SPG12 locus. ( 12427890 )	Orlacchio A...St George-Hyslop PH	2002

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Genes for Spastic Paraplegia 12, Autosomal Dominant

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RTN2	Reticulon 2	Protein Coding	1595.94	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)
2	ATL1	Atlastin GTPase 1	Protein Coding	17.46	DISEASES inferred ¹⁵
3	REEP1	Receptor Accessory Protein 1	Protein Coding	17.45	DISEASES inferred ¹⁵
4	ZFYVE27	Zinc Finger FYVE-Type Containing 27	Protein Coding	17.32	DISEASES inferred ¹⁵
5	AP5Z1	Adaptor Related Protein Complex 5 Subunit Zeta 1	Protein Coding	16.68	DISEASES inferred ¹⁵
6	SPAST	Spastin	Protein Coding	16.36	DISEASES inferred ¹⁵
7	ERLIN2	ER Lipid Raft Associated 2	Protein Coding	16.35	DISEASES inferred ¹⁵
8	KIF5A	Kinesin Family Member 5A	Protein Coding	16.29	DISEASES inferred ¹⁵

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Variations for Spastic Paraplegia 12, Autosomal Dominant

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

⁷⁶

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

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RTN2	RTN2, 1-BP INS, 178C	insertion	Pathogenic
2	RTN2	RTN2, DEL	deletion	Pathogenic
3	RTN2	NM_005619.4(RTN2): c.1100C> T (p.Ser367Phe)	single nucleotide variant	Pathogenic	rs140494585	GRCh37	Chromosome 19, 45992745: 45992745
4	RTN2	NM_005619.4(RTN2): c.1100C> T (p.Ser367Phe)	single nucleotide variant	Pathogenic	rs140494585	GRCh38	Chromosome 19, 45489487: 45489487
5	RTN2	NM_005619.4(RTN2): c.939delT (p.Thr314Leufs)	deletion	Pathogenic	rs768449676	GRCh37	Chromosome 19, 45996512: 45996512
6	RTN2	NM_005619.4(RTN2): c.939delT (p.Thr314Leufs)	deletion	Pathogenic	rs768449676	GRCh38	Chromosome 19, 45493254: 45493254
7	RTN2	NM_005619.4(RTN2): c.938dup (p.Thr314Tyrfs)	duplication	Uncertain significance	rs748397131	GRCh37	Chromosome 19, 45996513: 45996513
8	RTN2	NM_005619.4(RTN2): c.938dup (p.Thr314Tyrfs)	duplication	Uncertain significance	rs748397131	GRCh38	Chromosome 19, 45493255: 45493255

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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

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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	endoplasmic reticulum	GO:0005783	9.63	ATL1 ERLIN2 REEP1 RTN2 SPAST ZFYVE27
2	endoplasmic reticulum membrane	GO:0005789	9.43	ATL1 ERLIN2 REEP1 RTN2 SPAST ZFYVE27
3	integral component of endoplasmic reticulum membrane	GO:0030176	9.32	RTN2 ZFYVE27
4	axon cytoplasm	GO:1904115	9.26	KIF5A SPAST
5	endoplasmic reticulum tubular network	GO:0071782	8.8	ATL1 REEP1 ZFYVE27

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

#	Name	GO ID	Score	Top Affiliating Genes
1	axonogenesis	GO:0007409	8.62	ATL1 SPAST

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.56	AP5Z1 ATL1 ERLIN2 KIF5A REEP1 RTN2
2	microtubule binding	GO:0008017	8.8	KIF5A REEP1 SPAST

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Sources for Spastic Paraplegia 12, Autosomal Dominant

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⁸ Cochrane Library

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

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²⁹ GO

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

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⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Anatomical Context for Spastic Paraplegia 12, Autosomal Dominant

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

Publications for Spastic Paraplegia 12, Autosomal Dominant

Articles related to Spastic Paraplegia 12, Autosomal Dominant:

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

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

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

Expression for Spastic Paraplegia 12, Autosomal Dominant

Pathways for Spastic Paraplegia 12, Autosomal Dominant

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