Spastic Paraplegia 17 disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Spastic Paraplegia 17

Sources:
²²Genetics Home Reference, ⁴⁶OMIM, ³²MalaCards
See all sources

Genetics Home Reference:²² Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.

MalaCards based summary: Spastic Paraplegia 17, also known as silver spastic paraplegia syndrome, is related to silver-russell syndrome and hereditary spastic paraplegia, and has symptoms including autosomal dominant inheritance, hyperreflexia and pes cavus. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)). Affiliated tissues include brain.

Description from OMIM:⁴⁶ 270685

Aliases & Classifications for Spastic Paraplegia 17

Sources:
⁴²NIH Rare Diseases, ²¹GeneTests, ²³GTR, ²²Genetics Home Reference, ⁴⁶OMIM, ⁴⁸Orphanet, ⁶¹UMLS, ²⁷ICD10 via Orphanet
See all sources

Spastic Paraplegia 17, Aliases & Descriptions:

Name: Spastic Paraplegia 17 ⁴² ²¹ ²³ ²² ⁶¹

Silver Spastic Paraplegia Syndrome ⁴² ²² ⁴⁶ ⁶¹

Silver Syndrome ⁴² ²¹ ²² ⁴⁸

Spg17 ⁴² ²² ⁴⁸

Spastic Paraplegia with Amyotrophy of Hands and Feet ⁴² ²²

Autosomal Dominant Spastic Paraplegia Type 17 ⁴² ⁴⁸

Dhmn5b ⁴⁸ ⁶¹

Spastic Paraplegia-Amyotrophy of Hands and Feet ⁴⁸

Distal Hereditary Motor Neuropathy Type 5b ⁴⁸

Russell-Silver Syndrome ⁶¹

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Neuronal diseases, Mental diseases, Gastrointestinal diseases, Bone diseases, Eye diseases

ICD10: ²⁷

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁴⁸

Rare neurological diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000

External Ids:

OMIM⁴⁶ 270685

ICD10 via Orphanet²⁷ G11.4

Related Diseases for Spastic Paraplegia 17

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases in the Spastic Paraplegia 1 family:

Hereditary Spastic Paraplegia	Spastic Paraplegia 3a
Spastic Paraplegia 4	Spastic Paraplegia 7
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 2
Spastic Paraplegia 23	Spastic Paraplegia 24
Spastic Paraplegia 25	Spastic Paraplegia 26
Spastic Paraplegia 29	Spastic Paraplegia 3
Spastic Paraplegia 31	Spastic Paraplegia 39
Spastic Paraplegia 51	Spastic Paraplegia 5a
Spastic Paraplegia 5b	Spastic Paraplegia 6
Spastic Paraplegia 9	Spastic Paraplegia 33
Spastic Paraplegia 42	Spastic Paraplegia 30
Spastic Paraplegia 48	Spastic Paraplegia 35
Spastic Paraplegia 44	Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63	Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive	Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive	Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant	Spastic Paraplegia 56, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive	Spastic Paraplegia 72, Autosomal Dominant
Spastic Paraplegia 25, Autosomal Recessive	Spastic Paraplegia 48, Autosomal Recessive
Spastic Paraplegia 50, Autosomal Recessive	Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant	Spastic Paraplegia 54, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive	Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive	Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive	Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 64	Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 45	Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 41, Autosomal Dominant	Spastic Paraplegia 26, Autosomal Recessive
Spastic Paraplegia 10, Autosomal Dominant	Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive	Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant	Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive	Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive	Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 61, Autosomal Recessive	Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive	Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant	Autosomal Recessive Spastic Paraplegia Type 62
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 17 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 24)

id	Related Disease	Score
1	silver-russell syndrome	10.6
2	hereditary spastic paraplegia	10.3
3	neuropathy	10.3
4	der kaloustian mcintosh silver syndrome	10.3
5	distal hereditary motor neuropathy	10.3
6	paraplegia	10.2
7	spasticity	10.2
8	partington syndrome	10.1
9	chromosome 11p15.5-related russell-silver syndrome	10.1
10	chromosome 7-related russell-silver syndrome	10.1
11	radio-ulnar synostosis - intellectual disability - hypotonia	10.1
12	bscl2-related neurologic disorders/seipinopathy	10.1
13	dilated cardiomyopathy	10.0
14	lichen nitidus	10.0
15	dystonia	10.0
16	learning disability	10.0
17	myoclonus-dystonia	10.0
18	horseshoe kidney	10.0
19	mosaic trisomy 7	10.0
20	ring chromosome 15	10.0
21	silvery hair syndrome	10.0
22	distal hereditary motor neuropathy type v	10.0
23	myoclonus	10.0
24	hemihypertrophy	10.0

Graphical network of the top 20 diseases related to Spastic Paraplegia 17:

Symptoms for Spastic Paraplegia 17

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

Symptoms by clinical synopsis from OMIM:

270685

Clinical features from OMIM:

270685

HPO human phenotypes related to Spastic Paraplegia 17:

(show all 13)

id	Description	HPO Source Accession
1	autosomal dominant inheritance	HP:0000006
2	hyperreflexia	HP:0001347
3	pes cavus	HP:0001761
4	lower limb spasticity	HP:0002061
5	spastic gait	HP:0002064
6	impaired vibration sensation in the lower limbs	HP:0002166
7	first dorsal interossei muscle weakness	HP:0003392
8	thenar muscle atrophy	HP:0003393
9	first dorsal interossei muscle atrophy	HP:0003426
10	thenar muscle weakness	HP:0003427
11	babinski sign	HP:0003487
12	slow progression	HP:0003677
13	lower limb muscle weakness	HP:0007340

Drugs & Therapeutics for Spastic Paraplegia 17

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Spastic Paraplegia 17

Search NIH Clinical Center for Spastic Paraplegia 17

Genetic Tests for Spastic Paraplegia 17

Sources:
²¹GeneTests, ²³GTR
See all sources

Genetic tests related to Spastic Paraplegia 17:

id	Genetic test	Affiliating Genes
1	Spastic Paraplegia 17²¹ ²³
2	Silver Syndrome²¹

Anatomical Context for Spastic Paraplegia 17

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Spastic Paraplegia 17:

³²

Brain

Animal Models for Spastic Paraplegia 17 or affiliated genes

Publications for Spastic Paraplegia 17

Sources:
⁵¹PubMed
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Articles related to Spastic Paraplegia 17:

id	Title	Authors	Year
1	Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (18585921)	Ito D.... Suzuki N.	2008

Genes related to Spastic Paraplegia 17

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁴⁸Orphanet, ⁶³UniProtKB/Swiss-Prot
See all sources

Genes related to Spastic Paraplegia 17:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	BSCL2		Berardinelli-Seip congenital lipodystrophy 2 (seipin)	32.27	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶³ GeneCards inferred via : Publications, Gene name, Disorders (show sections)