Spastic Paraplegia 74, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spastic Paraplegia 74, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 74, Autosomal Recessive:

Name: Spastic Paraplegia 74, Autosomal Recessive ⁵⁷ ⁷² ²⁹ ⁶

Spg74 ⁵⁷ ¹² ⁵⁸ ⁷²

Paraplegia, Spastic, Autosomal Recessive, Type 74 ³⁹

Autosomal Recessive Spastic Paraplegia Type 74 ⁵⁸

Autosomal Recessive Spastic Paraplegia 74 ¹²

Hereditary Spastic Paraplegia 74 ¹²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade
one consanguineous arab family has been reported (last curated july 2015)

HPO:

³¹

spastic paraplegia 74, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

External Ids:

Disease Ontology ¹² DOID:0110819

OMIM® ⁵⁷ 616451

OMIM Phenotypic Series ⁵⁷ PS303350

MeSH ⁴⁴ D015419

Orphanet ⁵⁸ ORPHA468661

MedGen ⁴¹ C4225322 CN231443

SNOMED-CT via HPO ⁶⁸ 12184005 128208007 192967009 more

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Summaries for Spastic Paraplegia 74, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷² Spastic paraplegia 74, 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. SPG74 is characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy with childhood-onset and slow progression into late adulthood.

MalaCards based summary : Spastic Paraplegia 74, Autosomal Recessive, is also known as spg74. An important gene associated with Spastic Paraplegia 74, Autosomal Recessive is IBA57 (Iron-Sulfur Cluster Assembly Factor IBA57). Affiliated tissues include eye, and related phenotypes are peripheral axonal neuropathy and progressive spastic paraplegia

Disease Ontology : ¹² A hereditary spastic paraplegia that has material basis in mutation in the IBA57 gene on chromosome 1q42.

OMIM® : ⁵⁷ Spastic paraplegia-74 is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (616451) (Updated 05-Apr-2021)

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Related Diseases for Spastic Paraplegia 74, 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, 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
Spastic Paraplegia 83, 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

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Symptoms & Phenotypes for Spastic Paraplegia 74, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 74, Autosomal Recessive:

⁵⁸ ³¹ (show all 23)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	peripheral axonal neuropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003477
2	progressive spastic paraplegia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007020
3	pes cavus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001761
4	distal lower limb muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009053
5	decreased activity of mitochondrial complex i ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011923
6	visual field defect ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001123
7	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
8	distal amyotrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003693
9	emg: neuropathic changes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003445
10	distal peripheral sensory neuropathy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007067
11	decreased achilles reflex ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009072
12	hyperactive patellar reflex ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007083
13	decreased activity of mitochondrial complex ii ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008314
14	optic atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000648
15	babinski sign ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003487
16	hypoplasia of the corpus callosum ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002079
17	cerebellar atrophy ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001272
18	cerebral white matter atrophy ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0012762
19	hyperreflexia ³¹			HP:0001347
20	visual impairment ⁵⁸		Frequent (79-30%)
21	areflexia ³¹			HP:0001284
22	spastic paraplegia ³¹			HP:0001258
23	distal sensory impairment ³¹			HP:0002936

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
visual impairment
optic atrophy
visual field defects

Neurologic Peripheral Nervous System:
distal sensory impairment
axonal peripheral neuropathy
areflexia of the ankles
reduced compound muscle action potentials and velocities

Laboratory Abnormalities:
patient lymphoblastoid cells showed decreased activity of mitochondrial complexes i and ii

Neurologic Central Nervous System:
spastic paraplegia
extensor plantar responses
hyperreflexia of the knee

Muscle Soft Tissue:
distal leg muscle atrophy

Clinical features from OMIM®:

616451 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Spastic Paraplegia 74, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 74, Autosomal Recessive

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Genetic Tests for Spastic Paraplegia 74, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 74, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 74, Autosomal Recessive ²⁹	IBA57

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Anatomical Context for Spastic Paraplegia 74, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 74, Autosomal Recessive:

⁴⁰

Eye

Sources

Publications for Spastic Paraplegia 74, Autosomal Recessive

Articles related to Spastic Paraplegia 74, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. ⁶ ⁵⁷	Lossos A...Lill R	25609768	2015
2	Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy. ⁶	Liu M...Wu Y	28671726	2018
3	Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. ⁶	Torraco A...Carrozzo R	27785568	2017

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Genes for Spastic Paraplegia 74, Autosomal Recessive

Genes related to Spastic Paraplegia 74, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IBA57	Iron-Sulfur Cluster Assembly Factor IBA57	Protein Coding	1444.14	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	25609768 28671726 27785568

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Variations for Spastic Paraplegia 74, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 74, Autosomal Recessive:

⁶ (show all 34)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	IBA57	NM_001010867.4(IBA57):c.678A>G (p.Gln226=)	SNV	Pathogenic	203449	rs876657407	GRCh37: 1:228362729-228362729 GRCh38: 1:228175028-228175028
2	IBA57	NM_001010867.4(IBA57):c.384dup (p.Asp129Ter)	Duplication	Pathogenic	660906	rs1571918251	GRCh37: 1:228362434-228362435 GRCh38: 1:228174733-228174734
3	IBA57	NM_001010867.4(IBA57):c.341+1G>A	SNV	Likely pathogenic	948465		GRCh37: 1:228353859-228353859 GRCh38: 1:228166158-228166158
4	IBA57	NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly)	SNV	Uncertain significance	662694	rs951070079	GRCh37: 1:228353602-228353602 GRCh38: 1:228165901-228165901
5	IBA57	NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)	SNV	Uncertain significance	541311	rs775646159	GRCh37: 1:228353852-228353852 GRCh38: 1:228166151-228166151
6	IBA57	NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser)	SNV	Uncertain significance	541312	rs778284446	GRCh37: 1:228353723-228353723 GRCh38: 1:228166022-228166022
7	IBA57	NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)	SNV	Uncertain significance	572919	rs150912462	GRCh37: 1:228363176-228363176 GRCh38: 1:228175475-228175475
8	IBA57	NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala)	SNV	Uncertain significance	574590	rs1420144150	GRCh37: 1:228353732-228353732 GRCh38: 1:228166031-228166031
9	IBA57	NM_001010867.4(IBA57):c.354C>A (p.His118Gln)	SNV	Uncertain significance	579645	rs1315886237	GRCh37: 1:228362405-228362405 GRCh38: 1:228174704-228174704
10	IBA57	NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg)	SNV	Uncertain significance	639514	rs1026408197	GRCh37: 1:228353776-228353776 GRCh38: 1:228166075-228166075
11	IBA57	NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr)	SNV	Uncertain significance	655156	rs1186238890	GRCh37: 1:228353779-228353779 GRCh38: 1:228166078-228166078
12	IBA57	NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg)	SNV	Uncertain significance	841605		GRCh37: 1:228363132-228363132 GRCh38: 1:228175431-228175431
13	IBA57	NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr)	SNV	Uncertain significance	844143		GRCh37: 1:228353707-228353707 GRCh38: 1:228166006-228166006
14	IBA57	NM_001010867.4(IBA57):c.748A>G (p.Met250Val)	SNV	Uncertain significance	1005540		GRCh37: 1:228362891-228362891 GRCh38: 1:228175190-228175190
15	IBA57	NM_001010867.4(IBA57):c.341+4A>G	SNV	Uncertain significance	1008432		GRCh37: 1:228353862-228353862 GRCh38: 1:228166161-228166161
16	IBA57	NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)	SNV	Uncertain significance	545650	rs1053773776	GRCh37: 1:228353833-228353833 GRCh38: 1:228166132-228166132
17	IBA57	NM_001010867.4(IBA57):c.893C>T (p.Thr298Met)	SNV	Uncertain significance	937315		GRCh37: 1:228363036-228363036 GRCh38: 1:228175335-228175335
18	IBA57	NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr)	SNV	Uncertain significance	1022231		GRCh37: 1:228362485-228362485 GRCh38: 1:228174784-228174784
19	IBA57	NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)	SNV	Uncertain significance	651713	rs199781237	GRCh37: 1:228353528-228353528 GRCh38: 1:228165827-228165827
20	IBA57	NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)	SNV	Uncertain significance	559322	rs149136930	GRCh37: 1:228362650-228362650 GRCh38: 1:228174949-228174949
21	IBA57	NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser)	SNV	Uncertain significance	863483		GRCh37: 1:228362650-228362650 GRCh38: 1:228174949-228174949
22	IBA57	NM_001010867.4(IBA57):c.232C>G (p.Leu78Val)	SNV	Uncertain significance	1028441		GRCh37: 1:228353749-228353749 GRCh38: 1:228166048-228166048
23	IBA57	NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr)	SNV	Uncertain significance	1037759		GRCh37: 1:228362625-228362625 GRCh38: 1:228174924-228174924
24	IBA57	NM_001010867.4(IBA57):c.780C>T (p.Tyr260=)	SNV	Likely benign	508383	rs202126055	GRCh37: 1:228362923-228362923 GRCh38: 1:228175222-228175222
25	IBA57	NM_001010867.4(IBA57):c.961C>T (p.Leu321=)	SNV	Likely benign	541314	rs376206530	GRCh37: 1:228363104-228363104 GRCh38: 1:228175403-228175403
26	IBA57	NM_001010867.4(IBA57):c.680-5T>A	SNV	Likely benign	704824	rs577050962	GRCh37: 1:228362818-228362818 GRCh38: 1:228175117-228175117
27	IBA57	NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu)	SNV	Likely benign	707076	rs142734560	GRCh37: 1:228363073-228363073 GRCh38: 1:228175372-228175372
28	IBA57	NM_001010867.4(IBA57):c.150C>T (p.Cys50=)	SNV	Likely benign	707654	rs765132163	GRCh37: 1:228353667-228353667 GRCh38: 1:228165966-228165966
29	IBA57	NM_001010867.4(IBA57):c.264C>G (p.Ala88=)	SNV	Likely benign	382792	rs13375853	GRCh37: 1:228353781-228353781 GRCh38: 1:228166080-228166080
30	IBA57	NM_001010867.4(IBA57):c.801C>T (p.Ala267=)	SNV	Likely benign	474297	rs138699407	GRCh37: 1:228362944-228362944 GRCh38: 1:228175243-228175243
31	IBA57	NM_001010867.4(IBA57):c.462C>T (p.His154=)	SNV	Benign	381420	rs148398789	GRCh37: 1:228362513-228362513 GRCh38: 1:228174812-228174812
32	IBA57	NM_001010867.4(IBA57):c.210G>C (p.Leu70=)	SNV	Benign	559321	rs199589485	GRCh37: 1:228353727-228353727 GRCh38: 1:228166026-228166026
33	IBA57	NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr)	SNV	Benign	559323	rs61745091	GRCh37: 1:228363123-228363123 GRCh38: 1:228175422-228175422
34	IBA57	NM_001010867.4(IBA57):c.645C>T (p.Asp215=)	SNV	Benign	541313	rs61743941	GRCh37: 1:228362696-228362696 GRCh38: 1:228174995-228174995

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Expression for Spastic Paraplegia 74, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 74, Autosomal Recessive.

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Pathways for Spastic Paraplegia 74, Autosomal Recessive

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GO Terms for Spastic Paraplegia 74, Autosomal Recessive

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Sources for Spastic Paraplegia 74, Autosomal Recessive

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⁷³ Wikipedia

Spastic Paraplegia 74, Autosomal Recessive (SPG74)

Aliases & Classifications for Spastic Paraplegia 74, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 74, Autosomal Recessive:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 74, Autosomal Recessive

Related Diseases for Spastic Paraplegia 74, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Symptoms & Phenotypes for Spastic Paraplegia 74, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 74, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spastic Paraplegia 74, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 74, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 74, Autosomal Recessive:

Anatomical Context for Spastic Paraplegia 74, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 74, Autosomal Recessive:

Publications for Spastic Paraplegia 74, Autosomal Recessive

Articles related to Spastic Paraplegia 74, Autosomal Recessive:

Genes for Spastic Paraplegia 74, Autosomal Recessive

Genes related to Spastic Paraplegia 74, Autosomal Recessive (1 elite genes):

Variations for Spastic Paraplegia 74, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 74, Autosomal Recessive:

Expression for Spastic Paraplegia 74, Autosomal Recessive

Pathways for Spastic Paraplegia 74, Autosomal Recessive

GO Terms for Spastic Paraplegia 74, Autosomal Recessive

Sources for Spastic Paraplegia 74, Autosomal Recessive