MCID: SPS106
MIFTS: 37

Spastic Paraplegia 54, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 54, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 54, Autosomal Recessive:

Name: Spastic Paraplegia 54, Autosomal Recessive 57 75 29 13 6 73
Spg54 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 54 12 59
Hereditary Spastic Paraplegia 54 12 15
Paraplegia, Spastic, Type 54, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 54 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 54
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of spasticity by age 2 years


HPO:

32
spastic paraplegia 54, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 54, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 54, 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early- onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions.

MalaCards based summary : Spastic Paraplegia 54, Autosomal Recessive, also known as spg54, is related to paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 54, Autosomal Recessive is DDHD2 (DDHD Domain Containing 2), and among its related pathways/superpathways is Acyl chain remodelling of PE. Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and spastic paraplegia

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the DDHD2 gene on chromosome 8p11.

OMIM : 57 Spastic paraplegia-54 is a complicated form of spastic paraplegia, a neurodegenerative disorder affecting fibers of the corticospinal tract. Affected individuals have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak (summary by Schuurs-Hoeijmakers et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (615033)

Related Diseases for Spastic Paraplegia 54, 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 54, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 paraplegia 27.9 AP5Z1 DDHD1 DDHD2 RTN2
2 hereditary spastic paraplegia 26.9 AP5Z1 CYP2U1 DDHD1 DDHD2 RTN2
3 spastic paraplegia 48, autosomal recessive 10.1 AP5Z1 DDHD2
4 spasticity 10.0
5 alacrima, achalasia, and mental retardation syndrome 9.9
6 spastic paraplegia 33, autosomal dominant 9.6 AP5Z1 RTN2
7 spastic paraplegia 31, autosomal dominant 9.6 AP5Z1 RTN2
8 spastic paraplegia 2, x-linked 9.5 AP5Z1 RTN2
9 spastic paraplegia 15, autosomal recessive 9.5 AP5Z1 CYP2U1 DDHD2
10 spastic paraplegia 35, autosomal recessive 9.4 AP5Z1 CYP2U1 DDHD2
11 spastic paraplegia 12, autosomal dominant 9.4 AP5Z1 RTN2
12 spastic paraplegia 10, autosomal dominant 9.3 AP5Z1 RTN2
13 short-rib thoracic dysplasia 6 with or without polydactyly 9.2 CYP2U1 DDHD1
14 hereditary spastic paraplegia 51 9.1 AP4S1 AP5Z1 RTN2
15 spastic paraplegia 50, autosomal recessive 9.1 AP4S1 AP5Z1 RTN2
16 spastic paraplegia 52, autosomal recessive 8.5 AP4S1 AP5Z1 DDHD1 RTN2
17 spastic paraplegia 56, autosomal recessive 8.5 AP4S1 CYP2U1 DDHD2 RTN2
18 spastic paraplegia 28, autosomal recessive 8.1 AP4S1 AP5Z1 DDHD1 DDHD2 RTN2

Graphical network of the top 20 diseases related to Spastic Paraplegia 54, Autosomal Recessive:



Diseases related to Spastic Paraplegia 54, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 54, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
spastic paraplegia
mental retardation
extensor plantar responses
more
Growth Height:
short stature

Head And Neck Mouth:
high-arched palate (in some patients)

Skeletal Feet:
foot contractures

Abdomen Gastrointestinal:
dysphagia
constipation (in some patients)
fecal incontinence (rare)

Head And Neck Eyes:
strabismus
telecanthus
optic nerve hypoplasia (in some patients)

Genitourinary Bladder:
urinary incontinence (rare)


Clinical features from OMIM:

615033

Human phenotypes related to Spastic Paraplegia 54, Autosomal Recessive:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
7 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
8 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
9 optic disc hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0007766
10 contractures involving the joints of the feet 59 32 frequent (33%) Frequent (79-30%) HP:0008366
11 periventricular white matter hyperdensities 59 32 frequent (33%) Frequent (79-30%) HP:0030891
12 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 periventricular leukomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006970
15 tip-toe gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0030051
16 gait disturbance 59 Frequent (79-30%)
17 urinary incontinence 32 occasional (7.5%) HP:0000020
18 telecanthus 32 HP:0000506
19 optic nerve hypoplasia 32 occasional (7.5%) HP:0000609
20 hyperreflexia 32 HP:0001347
21 constipation 32 occasional (7.5%) HP:0002019
22 abnormality of the periventricular white matter 32 HP:0002518
23 bowel incontinence 32 occasional (7.5%) HP:0002607
24 babinski sign 32 HP:0003487
25 lower limb muscle weakness 32 HP:0007340

Drugs & Therapeutics for Spastic Paraplegia 54, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 54, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 54, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 54, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 54, Autosomal Recessive 29 DDHD2

Anatomical Context for Spastic Paraplegia 54, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 54, Autosomal Recessive:

41
Brain, Spinal Cord

Publications for Spastic Paraplegia 54, Autosomal Recessive

Variations for Spastic Paraplegia 54, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 54, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 DDHD2 p.Asp660His VAR_069574 rs375168720

ClinVar genetic disease variations for Spastic Paraplegia 54, Autosomal Recessive:

6
(show top 50) (show all 55)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDHD2 DDHD2, 1-BP INS, 1804T insertion Pathogenic
2 DDHD2 DDHD2, 1-BP DEL, 2057A deletion Pathogenic
3 DDHD2 DDHD2, 1-BP DUP, 138C duplication Pathogenic
4 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh37 Chromosome 8, 38111160: 38111160
5 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh38 Chromosome 8, 38253642: 38253642
6 DDHD2 NM_015214.2(DDHD2): c.1546C> T (p.Arg516Ter) single nucleotide variant Pathogenic rs373856119 GRCh37 Chromosome 8, 38109734: 38109734
7 DDHD2 NM_015214.2(DDHD2): c.1546C> T (p.Arg516Ter) single nucleotide variant Pathogenic rs373856119 GRCh38 Chromosome 8, 38252216: 38252216
8 DDHD2 NM_001164232.1(DDHD2): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs398122826 GRCh37 Chromosome 8, 38103270: 38103270
9 DDHD2 NM_001164232.1(DDHD2): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs398122826 GRCh38 Chromosome 8, 38245752: 38245752
10 DDHD2 NM_015214.2(DDHD2): c.1982_1983delAT (p.Tyr661Cysfs) deletion Pathogenic rs398122837 GRCh37 Chromosome 8, 38111164: 38111165
11 DDHD2 NM_015214.2(DDHD2): c.1982_1983delAT (p.Tyr661Cysfs) deletion Pathogenic rs398122837 GRCh38 Chromosome 8, 38253646: 38253647
12 DDHD2 NM_015214.2(DDHD2): c.1057+5C> G single nucleotide variant Pathogenic rs886037659 GRCh38 Chromosome 8, 38245955: 38245955
13 DDHD2 NM_015214.2(DDHD2): c.1057+5C> G single nucleotide variant Pathogenic rs886037659 GRCh37 Chromosome 8, 38103473: 38103473
14 DDHD2 NM_015214.2(DDHD2): c.1127A> G (p.Asp376Gly) single nucleotide variant Likely benign rs148664622 GRCh38 Chromosome 8, 38247714: 38247714
15 DDHD2 NM_015214.2(DDHD2): c.1127A> G (p.Asp376Gly) single nucleotide variant Likely benign rs148664622 GRCh37 Chromosome 8, 38105232: 38105232
16 DDHD2 NM_015214.2(DDHD2): c.558G> A (p.Thr186=) single nucleotide variant Likely benign rs149994413 GRCh37 Chromosome 8, 38095663: 38095663
17 DDHD2 NM_015214.2(DDHD2): c.558G> A (p.Thr186=) single nucleotide variant Likely benign rs149994413 GRCh38 Chromosome 8, 38238145: 38238145
18 DDHD2 NM_015214.2(DDHD2): c.912T> A (p.Ile304=) single nucleotide variant Benign rs139393309 GRCh37 Chromosome 8, 38103323: 38103323
19 DDHD2 NM_015214.2(DDHD2): c.912T> A (p.Ile304=) single nucleotide variant Benign rs139393309 GRCh38 Chromosome 8, 38245805: 38245805
20 DDHD2 NM_015214.2(DDHD2): c.1168C> T (p.Leu390=) single nucleotide variant Benign/Likely benign rs142190071 GRCh37 Chromosome 8, 38105273: 38105273
21 DDHD2 NM_015214.2(DDHD2): c.1168C> T (p.Leu390=) single nucleotide variant Benign/Likely benign rs142190071 GRCh38 Chromosome 8, 38247755: 38247755
22 DDHD2 NM_015214.2(DDHD2): c.628C> A (p.Pro210Thr) single nucleotide variant Uncertain significance rs376771682 GRCh38 Chromosome 8, 38240280: 38240280
23 DDHD2 NM_015214.2(DDHD2): c.628C> A (p.Pro210Thr) single nucleotide variant Uncertain significance rs376771682 GRCh37 Chromosome 8, 38097798: 38097798
24 DDHD2 NM_015214.2(DDHD2): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs201258800 GRCh38 Chromosome 8, 38245878: 38245878
25 DDHD2 NM_015214.2(DDHD2): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs201258800 GRCh37 Chromosome 8, 38103396: 38103396
26 DDHD2 NM_015214.2(DDHD2): c.342G> A (p.Thr114=) single nucleotide variant Likely benign rs774309381 GRCh38 Chromosome 8, 38234515: 38234515
27 DDHD2 NM_015214.2(DDHD2): c.342G> A (p.Thr114=) single nucleotide variant Likely benign rs774309381 GRCh37 Chromosome 8, 38092033: 38092033
28 DDHD2 NM_015214.2(DDHD2): c.371delA (p.Lys124Serfs) deletion Pathogenic GRCh38 Chromosome 8, 38234544: 38234544
29 DDHD2 NM_015214.2(DDHD2): c.371delA (p.Lys124Serfs) deletion Pathogenic GRCh37 Chromosome 8, 38092062: 38092062
30 DDHD2 NM_015214.2(DDHD2): c.608T> C (p.Val203Ala) single nucleotide variant Uncertain significance rs755852058 GRCh37 Chromosome 8, 38095713: 38095713
31 DDHD2 NM_015214.2(DDHD2): c.608T> C (p.Val203Ala) single nucleotide variant Uncertain significance rs755852058 GRCh38 Chromosome 8, 38238195: 38238195
32 DDHD2 NM_015214.2(DDHD2): c.864A> C (p.Ile288=) single nucleotide variant Likely benign rs148904419 GRCh37 Chromosome 8, 38103275: 38103275
33 DDHD2 NM_015214.2(DDHD2): c.864A> C (p.Ile288=) single nucleotide variant Likely benign rs148904419 GRCh38 Chromosome 8, 38245757: 38245757
34 DDHD2 NM_015214.2(DDHD2): c.1023C> T (p.Phe341=) single nucleotide variant Likely benign rs372428685 GRCh37 Chromosome 8, 38103434: 38103434
35 DDHD2 NM_015214.2(DDHD2): c.1023C> T (p.Phe341=) single nucleotide variant Likely benign rs372428685 GRCh38 Chromosome 8, 38245916: 38245916
36 DDHD2 NM_015214.2(DDHD2): c.2047T> A (p.Cys683Ser) single nucleotide variant Benign rs148536791 GRCh37 Chromosome 8, 38111229: 38111229
37 DDHD2 NM_015214.2(DDHD2): c.2047T> A (p.Cys683Ser) single nucleotide variant Benign rs148536791 GRCh38 Chromosome 8, 38253711: 38253711
38 DDHD2 NM_015214.2(DDHD2): c.1090C> G (p.Gln364Glu) single nucleotide variant Uncertain significance rs201156715 GRCh38 Chromosome 8, 38246265: 38246265
39 DDHD2 NM_015214.2(DDHD2): c.1090C> G (p.Gln364Glu) single nucleotide variant Uncertain significance rs201156715 GRCh37 Chromosome 8, 38103783: 38103783
40 DDHD2 NM_015214.2(DDHD2): c.1477C> T (p.Pro493Ser) single nucleotide variant Uncertain significance rs547550120 GRCh38 Chromosome 8, 38252147: 38252147
41 DDHD2 NM_015214.2(DDHD2): c.1477C> T (p.Pro493Ser) single nucleotide variant Uncertain significance rs547550120 GRCh37 Chromosome 8, 38109665: 38109665
42 DDHD2 NM_015214.2(DDHD2): c.1575C> T (p.Tyr525=) single nucleotide variant Likely benign rs139004425 GRCh37 Chromosome 8, 38109763: 38109763
43 DDHD2 NM_015214.2(DDHD2): c.1575C> T (p.Tyr525=) single nucleotide variant Likely benign rs139004425 GRCh38 Chromosome 8, 38252245: 38252245
44 DDHD2 NM_015214.2(DDHD2): c.428C> T (p.Ala143Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 38095072: 38095072
45 DDHD2 NM_015214.2(DDHD2): c.428C> T (p.Ala143Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 38237554: 38237554
46 DDHD2 NM_015214.2(DDHD2): c.725G> A (p.Arg242His) single nucleotide variant Uncertain significance rs767497993 GRCh37 Chromosome 8, 38099780: 38099780
47 DDHD2 NM_015214.2(DDHD2): c.725G> A (p.Arg242His) single nucleotide variant Uncertain significance rs767497993 GRCh38 Chromosome 8, 38242262: 38242262
48 DDHD2 NM_015214.2(DDHD2): c.1618-6A> T single nucleotide variant Likely benign rs745477461 GRCh37 Chromosome 8, 38110234: 38110234
49 DDHD2 NM_015214.2(DDHD2): c.1618-6A> T single nucleotide variant Likely benign rs745477461 GRCh38 Chromosome 8, 38252716: 38252716
50 DDHD2 NM_015214.2(DDHD2): c.1982A> G (p.Tyr661Cys) single nucleotide variant Uncertain significance rs201656753 GRCh37 Chromosome 8, 38111164: 38111164

Expression for Spastic Paraplegia 54, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 54, Autosomal Recessive.

Pathways for Spastic Paraplegia 54, Autosomal Recessive

Pathways related to Spastic Paraplegia 54, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.82 DDHD1 DDHD2

GO Terms for Spastic Paraplegia 54, Autosomal Recessive

Biological processes related to Spastic Paraplegia 54, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.16 DDHD1 DDHD2
2 phosphatidic acid biosynthetic process GO:0006654 8.96 DDHD1 DDHD2
3 positive regulation of mitochondrial fission GO:0090141 8.62 DDHD1 DDHD2

Molecular functions related to Spastic Paraplegia 54, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipase activity GO:0004620 8.62 DDHD1 DDHD2

Sources for Spastic Paraplegia 54, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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