SPG74
MCID: SPS156
MIFTS: 28

Spastic Paraplegia 74, Autosomal Recessive (SPG74)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 74, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 74, Autosomal Recessive:

Name: Spastic Paraplegia 74, Autosomal Recessive 58 76 30 6
Spg74 58 12 60 76
Paraplegia, Spastic, Autosomal Recessive, Type 74 41
Autosomal Recessive Spastic Paraplegia Type 74 60
Autosomal Recessive Spastic Paraplegia 74 12
Hereditary Spastic Paraplegia 74 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spastic paraplegia 74, autosomal recessive:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 74, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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 and multiple mitochondrial dysfunctions syndrome 3. 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 : 58 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)

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 47
Spastic Paraplegia 51 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

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 9.6 IBA57 IBA57-DT
2 multiple mitochondrial dysfunctions syndrome 3 9.5 IBA57 IBA57-DT

Symptoms & Phenotypes for Spastic Paraplegia 74, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 74, Autosomal Recessive:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
2 peripheral axonal neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003477
3 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
4 visual field defect 60 33 frequent (33%) Frequent (79-30%) HP:0001123
5 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
6 distal lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009053
7 distal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003693
8 hyperactive patellar reflex 60 33 frequent (33%) Frequent (79-30%) HP:0007083
9 emg: neuropathic changes 60 33 frequent (33%) Frequent (79-30%) HP:0003445
10 decreased activity of mitochondrial complex i 60 33 frequent (33%) Frequent (79-30%) HP:0011923
11 distal peripheral sensory neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007067
12 decreased activity of mitochondrial complex ii 60 33 frequent (33%) Frequent (79-30%) HP:0008314
13 decreased achilles reflex 60 33 frequent (33%) Frequent (79-30%) HP:0009072
14 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
15 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
16 cerebellar atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0001272
17 hypoplasia of the corpus callosum 60 33 very rare (1%) Very rare (<4-1%) HP:0002079
18 cerebral white matter atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0012762
19 hyperreflexia 33 HP:0001347
20 visual impairment 60 Frequent (79-30%)
21 areflexia 33 HP:0001284
22 spastic paraplegia 33 HP:0001258
23 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Spastic Paraplegia 74, Autosomal Recessive

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

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 30 IBA57

Anatomical Context for Spastic Paraplegia 74, Autosomal Recessive

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

42
Eye

Publications for Spastic Paraplegia 74, Autosomal Recessive

Variations for Spastic Paraplegia 74, Autosomal Recessive

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

6 (show all 24)
# 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 GRCh37 Chromosome 1, 228362513: 228362513
6 IBA57 NM_001010867.3(IBA57): c.462C> T (p.His154=) single nucleotide variant Benign rs148398789 GRCh38 Chromosome 1, 228174812: 228174812
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 GRCh37 Chromosome 1, 228362696: 228362696
12 IBA57 NM_001010867.3(IBA57): c.645C> T (p.Asp215=) single nucleotide variant Benign rs61743941 GRCh38 Chromosome 1, 228174995: 228174995
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 GRCh37 Chromosome 1, 228353723: 228353723
16 IBA57 NM_001010867.3(IBA57): c.206T> C (p.Phe69Ser) single nucleotide variant Uncertain significance rs778284446 GRCh38 Chromosome 1, 228166022: 228166022
17 IBA57 NM_001010867.3(IBA57): c.335T> G (p.Leu112Trp) single nucleotide variant Uncertain significance rs775646159 GRCh37 Chromosome 1, 228353852: 228353852
18 IBA57 NM_001010867.3(IBA57): c.335T> G (p.Leu112Trp) single nucleotide variant Uncertain significance rs775646159 GRCh38 Chromosome 1, 228166151: 228166151
19 IBA57 NM_001010867.3(IBA57): c.354C> A (p.His118Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 228174704: 228174704
20 IBA57 NM_001010867.3(IBA57): c.354C> A (p.His118Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 228362405: 228362405
21 IBA57 NM_001010867.3(IBA57): c.1033G> A (p.Ala345Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 228175475: 228175475
22 IBA57 NM_001010867.3(IBA57): c.1033G> A (p.Ala345Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 228363176: 228363176
23 IBA57 NM_001010867.3(IBA57): c.215G> C (p.Gly72Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 228353732: 228353732
24 IBA57 NM_001010867.3(IBA57): c.215G> C (p.Gly72Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 228166031: 228166031

Expression for Spastic Paraplegia 74, Autosomal Recessive

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

Pathways for Spastic Paraplegia 74, Autosomal Recessive

GO Terms for Spastic Paraplegia 74, Autosomal Recessive

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