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 ⁵⁶ ⁷³ ²⁹ ⁶

Spg74 ⁵⁶ ¹² ⁵⁸ ⁷³

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:

⁵⁶

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 Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

External Ids:

Disease Ontology ¹² DOID:0110819

OMIM ⁵⁶ 616451

OMIM Phenotypic Series ⁵⁶ PS303350

MeSH ⁴³ 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 : ⁷³ 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 progressive spastic paraplegia and peripheral axonal neuropathy

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

OMIM : ⁵⁶ 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)

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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
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	progressive spastic paraplegia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007020
2	peripheral axonal neuropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003477
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	distal amyotrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003693
6	decreased activity of mitochondrial complex i ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011923
7	visual field defect ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001123
8	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
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	cerebellar atrophy ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001272
17	hypoplasia of the corpus callosum ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002079
18	cerebral white matter atrophy ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0012762
19	visual impairment ⁵⁸		Frequent (79-30%)
20	hyperreflexia ³¹			HP:0001347
21	areflexia ³¹			HP:0001284
22	spastic paraplegia ³¹			HP:0001258
23	distal sensory impairment ³¹			HP:0002936

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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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. ⁵⁶ ⁶	Lossos A...Lill R	25609768	2015
2	Hereditary Spastic Paraplegia Overview ⁶	Hedera P	20301682	2000

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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	PubmedIds
1	IBA57	Iron-Sulfur Cluster Assembly Factor IBA57	Protein Coding	1419.18	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	25609768

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Variations for Spastic Paraplegia 74, Autosomal Recessive

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

⁶ (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	IBA57	NM_001010867.4(IBA57):c.678A>G (p.Gln226=)	SNV	Pathogenic	203449	rs876657407	1:228362729-228362729	1:228175028-228175028
2	IBA57	NM_001010867.4(IBA57):c.354C>A (p.His118Gln)	SNV	Uncertain significance	579645	rs1315886237	1:228362405-228362405	1:228174704-228174704
3	IBA57	NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)	SNV	Uncertain significance	572919	rs150912462	1:228363176-228363176	1:228175475-228175475
4	IBA57	NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala)	SNV	Uncertain significance	574590	rs1420144150	1:228353732-228353732	1:228166031-228166031
5	IBA57	NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)	SNV	Uncertain significance	651713		1:228353528-228353528	1:228165827-228165827
6	IBA57	NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly)	SNV	Uncertain significance	662694		1:228353602-228353602	1:228165901-228165901
7	IBA57	NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg)	SNV	Uncertain significance	639514		1:228353776-228353776	1:228166075-228166075
8	IBA57	NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr)	SNV	Uncertain significance	655156		1:228353779-228353779	1:228166078-228166078
9	IBA57	NM_001010867.4(IBA57):c.384dup (p.Asp129Ter)	duplication	Uncertain significance	660906		1:228362434-228362435	1:228174733-228174734
10	IBA57	NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser)	SNV	Uncertain significance	541312	rs778284446	1:228353723-228353723	1:228166022-228166022
11	IBA57	NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)	SNV	Uncertain significance	541311	rs775646159	1:228353852-228353852	1:228166151-228166151
12	IBA57	NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)	SNV	Uncertain significance	559322	rs149136930	1:228362650-228362650	1:228174949-228174949
13	IBA57	NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr)	SNV	Uncertain significance	844143		1:228353707-228353707	1:228166006-228166006
14	IBA57	NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser)	SNV	Uncertain significance	863483		1:228362650-228362650	1:228174949-228174949
15	IBA57	NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg)	SNV	Uncertain significance	841605		1:228363132-228363132	1:228175431-228175431
16	IBA57	NM_001010867.4(IBA57):c.780C>T (p.Tyr260=)	SNV	Likely benign	508383	rs202126055	1:228362923-228362923	1:228175222-228175222
17	IBA57	NM_001010867.4(IBA57):c.150C>T (p.Cys50=)	SNV	Likely benign	707654		1:228353667-228353667	1:228165966-228165966
18	IBA57	NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu)	SNV	Likely benign	707076		1:228363073-228363073	1:228175372-228175372
19	IBA57	NM_001010867.4(IBA57):c.680-5T>A	SNV	Likely benign	704824		1:228362818-228362818	1:228175117-228175117
20	IBA57	NM_001010867.4(IBA57):c.961C>T (p.Leu321=)	SNV	Likely benign	541314	rs376206530	1:228363104-228363104	1:228175403-228175403
21	IBA57	NM_001010867.4(IBA57):c.264C>G (p.Ala88=)	SNV	Benign/Likely benign	382792	rs13375853	1:228353781-228353781	1:228166080-228166080
22	IBA57	NM_001010867.4(IBA57):c.645C>T (p.Asp215=)	SNV	Benign/Likely benign	541313	rs61743941	1:228362696-228362696	1:228174995-228174995
23	IBA57	NM_001010867.4(IBA57):c.210G>C (p.Leu70=)	SNV	Benign	559321	rs199589485	1:228353727-228353727	1:228166026-228166026
24	IBA57	NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr)	SNV	Benign	559323	rs61745091	1:228363123-228363123	1:228175422-228175422
25	IBA57	NM_001010867.4(IBA57):c.462C>T (p.His154=)	SNV	Benign	381420	rs148398789	1:228362513-228362513	1:228174812-228174812

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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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⁷⁴ 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