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 ⁷⁵ ²⁹ ⁶

Spg74 ⁵⁷ ¹² ⁵⁹ ⁷⁵

Paraplegia, Spastic, Autosomal Recessive, Type 74 ⁴⁰

Autosomal Recessive Spastic Paraplegia Type 74 ⁵⁹

Autosomal Recessive Spastic Paraplegia 74 ¹²

Hereditary Spastic Paraplegia 74 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

External Ids:

OMIM ⁵⁷ 616451

Disease Ontology ¹² DOID:0110819

Orphanet ⁵⁹ ORPHA468661

MedGen ⁴² C4225322 CN231443

MeSH ⁴⁴ D015419

SNOMED-CT via HPO ⁶⁹ 258211005 246635007 397540003 more

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Summaries for Spastic Paraplegia 74, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ 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, also known as spg74, is related to multiple mitochondrial dysfunctions syndrome 3 and multiple mitochondrial dysfunctions syndrome. An important gene associated with Spastic Paraplegia 74, Autosomal Recessive is IBA57 (IBA57, Iron-Sulfur Cluster Assembly). Affiliated tissues include eye, and related phenotypes are visual impairment and optic atrophy

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)

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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	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	Hereditary Spastic Paraplegia
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 51
Spastic Paraplegia 5a	Spastic Paraplegia 5b
Spastic Paraplegia 6	Spastic Paraplegia 9
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 74, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	multiple mitochondrial dysfunctions syndrome 3	9.2	IBA57 IBA57-DT
2	multiple mitochondrial dysfunctions syndrome	9.0	IBA57 IBA57-DT

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Symptoms & Phenotypes for Spastic Paraplegia 74, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Spastic Paraplegia 74, Autosomal Recessive:

³² (show all 7)

#	Description	HPO Source Accession
1	visual impairment ³²	HP:0000505
2	optic atrophy ³²	HP:0000648
3	visual field defect ³²	HP:0001123
4	spastic paraplegia ³²	HP:0001258
5	distal sensory impairment ³²	HP:0002936
6	peripheral axonal neuropathy ³²	HP:0003477
7	babinski sign ³²	HP:0003487

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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:

⁴¹

Eye

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Publications for Spastic Paraplegia 74, Autosomal Recessive

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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	IBA57, Iron-Sulfur Cluster Assembly	Protein Coding	1428.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	25609768
2	IBA57-DT	IBA57 Divergent Transcript	RNA Gene	7.95	GeneCards inferred via : Variants (show sections)

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Variations for Spastic Paraplegia 74, Autosomal Recessive

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

⁶

(show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	IBA57	NM_001010867.3(IBA57): c.678A> G (p.Gln226=)	single nucleotide variant	Pathogenic	rs876657407	GRCh38	Chromosome 1, 228175028: 228175028
2	IBA57	NM_001010867.3(IBA57): c.678A> G (p.Gln226=)	single nucleotide variant	Pathogenic	rs876657407	GRCh37	Chromosome 1, 228362729: 228362729
3	IBA57	NM_001010867.3(IBA57): c.264C> G (p.Ala88=)	single nucleotide variant	Benign/Likely benign	rs13375853	GRCh37	Chromosome 1, 228353781: 228353781
4	IBA57	NM_001010867.3(IBA57): c.264C> G (p.Ala88=)	single nucleotide variant	Benign/Likely benign	rs13375853	GRCh38	Chromosome 1, 228166080: 228166080
5	IBA57	NM_001010867.3(IBA57): c.462C> T (p.His154=)	single nucleotide variant	Benign	rs148398789	GRCh38	Chromosome 1, 228174812: 228174812
6	IBA57	NM_001010867.3(IBA57): c.462C> T (p.His154=)	single nucleotide variant	Benign	rs148398789	GRCh37	Chromosome 1, 228362513: 228362513
7	IBA57	NM_001010867.3(IBA57): c.801C> T (p.Ala267=)	single nucleotide variant	Likely benign	rs138699407	GRCh37	Chromosome 1, 228362944: 228362944
8	IBA57	NM_001010867.3(IBA57): c.801C> T (p.Ala267=)	single nucleotide variant	Likely benign	rs138699407	GRCh38	Chromosome 1, 228175243: 228175243
9	IBA57	NM_001010867.3(IBA57): c.947A> C (p.Asn316Thr)	single nucleotide variant	Likely benign	rs200319163	GRCh37	Chromosome 1, 228363090: 228363090
10	IBA57	NM_001010867.3(IBA57): c.947A> C (p.Asn316Thr)	single nucleotide variant	Likely benign	rs200319163	GRCh38	Chromosome 1, 228175389: 228175389
11	IBA57	NM_001010867.3(IBA57): c.645C> T (p.Asp215=)	single nucleotide variant	Benign	rs61743941	GRCh38	Chromosome 1, 228174995: 228174995
12	IBA57	NM_001010867.3(IBA57): c.645C> T (p.Asp215=)	single nucleotide variant	Benign	rs61743941	GRCh37	Chromosome 1, 228362696: 228362696
13	IBA57	NM_001010867.3(IBA57): c.961C> T (p.Leu321=)	single nucleotide variant	Likely benign	rs376206530	GRCh37	Chromosome 1, 228363104: 228363104
14	IBA57	NM_001010867.3(IBA57): c.961C> T (p.Leu321=)	single nucleotide variant	Likely benign	rs376206530	GRCh38	Chromosome 1, 228175403: 228175403
15	IBA57	NM_001010867.3(IBA57): c.206T> C (p.Phe69Ser)	single nucleotide variant	Uncertain significance	rs778284446	GRCh38	Chromosome 1, 228166022: 228166022
16	IBA57	NM_001010867.3(IBA57): c.206T> C (p.Phe69Ser)	single nucleotide variant	Uncertain significance	rs778284446	GRCh37	Chromosome 1, 228353723: 228353723
17	IBA57	NM_001010867.3(IBA57): c.335T> G (p.Leu112Trp)	single nucleotide variant	Uncertain significance	rs775646159	GRCh38	Chromosome 1, 228166151: 228166151
18	IBA57	NM_001010867.3(IBA57): c.335T> G (p.Leu112Trp)	single nucleotide variant	Uncertain significance	rs775646159	GRCh37	Chromosome 1, 228353852: 228353852

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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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