Hereditary spastic paraplegia

rare

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.

Identifiers: MONDO:0019064 Orphanet:685
Part of: Hereditary neuromuscular disease Inherited neurodegenerative disorder Paraplegia
Also known as: familial spastic paraparesis · familial spastic paraplegia · FSP · hereditary spastic paraparesis · HSP

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Complex hereditary spastic paraplegia	MONDO:0015150	67
Pure hereditary spastic paraplegia	MONDO:0015149	12
Hereditary spastic paraplegia 30	MONDO:0012476	2	KIF1A
ADAR-related hereditary spastic paraplegia	MONDO:0979273		ADAR
Charcot-Marie-Tooth disease type 5	MONDO:0010877
IFIH1-related hereditary spastic paraplegia	MONDO:0975919		IFIH1
RNASEH2B-related hereditary spastic paraplegia	MONDO:0975920		RNASEH2B
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	MONDO:0014209		UCHL1
Hereditary spastic paraplegia 10	MONDO:0011408
Hereditary spastic paraplegia 13	MONDO:0011532		HSPD1
Hereditary spastic paraplegia 14	MONDO:0011522
Hereditary spastic paraplegia 16	MONDO:0010287
Hereditary spastic paraplegia 2	MONDO:0010733		PLP1
Hereditary spastic paraplegia 31	MONDO:0012453		REEP1
Hereditary spastic paraplegia 33	MONDO:0012448		ZFYVE27
Hereditary spastic paraplegia 35	MONDO:0012866		FA2H
Hereditary spastic paraplegia 3A	MONDO:0008437		ATL1
Hereditary spastic paraplegia 4	MONDO:0008438
Hereditary spastic paraplegia 47	MONDO:0013551		AP4B1
Hereditary spastic paraplegia 48	MONDO:0013342		AP5Z1
Hereditary spastic paraplegia 50	MONDO:0013048		AP4M1
Hereditary spastic paraplegia 51	MONDO:0013401		AP4E1
Hereditary spastic paraplegia 52	MONDO:0013552		AP4S1
Hereditary spastic paraplegia 56	MONDO:0014015		CYP2U1
Hereditary spastic paraplegia 5A	MONDO:0010047		CYP7B1
Hereditary spastic paraplegia 6	MONDO:0010878		NIPA1
Hereditary spastic paraplegia 7	MONDO:0011803		SPG7
Hereditary spastic paraplegia 77	MONDO:0014882		FARS2
Macrocephaly-spastic paraplegia-dysmorphism syndrome	MONDO:0010858
Mast syndrome	MONDO:0009568		SPG21
Pure or complex hereditary spastic paraplegia	MONDO:0017913
Spastic paraplegia 72b, autosomal recessive	MONDO:0957958
Spastic paraplegia 79A, autosomal dominant, with ataxia	MONDO:0859363		UCHL1
Spastic paraplegia 80, autosomal dominant	MONDO:0032737		UBAP1
Spastic paraplegia 81, autosomal recessive	MONDO:0032905		SELENOI
Spastic paraplegia 82, autosomal recessive	MONDO:0032906		PCYT2
Spastic paraplegia 83, autosomal recessive	MONDO:0033614		HPDL
Spastic paraplegia 87, autosomal recessive	MONDO:0031019		TMEM63C
Spastic paraplegia 88, autosomal dominant	MONDO:0859309		KPNA3
Spastic paraplegia 89, autosomal recessive	MONDO:0957274		AMFR
Spastic paraplegia 90A, autosomal dominant	MONDO:0957308		SPTSSA
Spastic paraplegia 90B, autosomal recessive	MONDO:0957309
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	MONDO:0957813		SPTAN1
Spastic paraplegia 92, autosomal recessive	MONDO:0975746		FICD
Spastic paraplegia 93, autosomal recessive	MONDO:0975796		NFU1

Rare disease

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