SPG54
MCID: SPS106
MIFTS: 42

Spastic Paraplegia 54, Autosomal Recessive (SPG54)

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

Aliases & Classifications for Spastic Paraplegia 54, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 54, Autosomal Recessive:

Name: Spastic Paraplegia 54, Autosomal Recessive 56 73 29 13 6 71
Spg54 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 54 12 58
Hereditary Spastic Paraplegia 54 12 15
Paraplegia, Spastic, Type 54, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 54 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 54
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of spasticity by age 2 years


HPO:

31
spastic paraplegia 54, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 54, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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 complex hereditary spastic paraplegia and spasticity. An important gene associated with Spastic Paraplegia 54, Autosomal Recessive is DDHD2 (DDHD Domain Containing 2). Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and global developmental delay

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

OMIM : 56 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, 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

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 complex hereditary spastic paraplegia 30.2 SPG7 SPG11 DDHD2
2 spasticity 30.1 SPG7 REEP1 DDHD1
3 spastic ataxia 29.7 SPG7 PNPLA6 GBA2 DDHD2
4 paraplegia 27.1 SPG7 SPG21 SPG11 REEP1 PNPLA6 GBA2
5 hereditary spastic paraplegia 27.1 SPG7 SPG21 SPG11 REEP1 PNPLA6 GBA2
6 ataxia and polyneuropathy, adult-onset 10.3
7 spastic paraplegia 16, x-linked 10.3 SPG21 SPG11
8 charcot-marie-tooth disease, recessive intermediate d 10.3 SPG21 CYP2U1
9 hereditary spastic paraplegia 23 10.3 SPG21 SPG11
10 charcot-marie-tooth disease, axonal, type 2h 10.3 SPG21 CYP2U1
11 spastic paraplegia 64, autosomal recessive 10.3 SPG21 SPG11
12 charcot-marie-tooth disease type 2a2a 10.3 SPG21 CYP2U1
13 spastic paraplegia 14, autosomal recessive 10.2 SPG21 SPG11
14 spastic paraplegia 5a 10.2 GBA2 CYP2U1
15 charcot-marie-tooth disease, axonal, type 2r 10.2 SPG21 CYP2U1
16 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.2 DDHD2 DDHD1
17 mast syndrome 10.1 SPG21 SPG11
18 alacrima, achalasia, and mental retardation syndrome 10.1
19 ichthyosis 10.1
20 x-linked complicated spastic paraplegia type 1 10.1
21 spastic paraplegia 45, autosomal recessive 10.1 SPG21 SPG11 DDHD2
22 lenz-majewski hyperostotic dwarfism 10.1 DDHD2 DDHD1 CYP2U1
23 amyotrophic lateral sclerosis type 5 10.1 SPG11 AP5Z1
24 hereditary spastic paraplegia 51 10.1 SPG21 SPG11 AP5Z1
25 spastic paraplegia 52, autosomal recessive 10.1 SPG21 SPG11 AP5Z1
26 spastic paraplegia 50, autosomal recessive 10.1 SPG21 SPG11 AP5Z1
27 spastic paraplegia 44, autosomal recessive 10.1 SPG21 SPG11 AP5Z1
28 charcot-marie-tooth disease, axonal, type 2b2 10.0 SPG21 CYP2U1
29 neurodegeneration with brain iron accumulation 5 10.0 SPG11 FA2H
30 autosomal dominant non-syndromic intellectual disability 9 10.0 REEP1 AP5Z1
31 spastic paraplegia 27, autosomal recessive 10.0 SPG21 REEP1
32 spastic paraplegia 37, autosomal dominant 10.0 SPG21 REEP1
33 charcot-marie-tooth disease, axonal, type 2t 10.0 SPG21 GBA2 CYP2U1
34 neurodegeneration with brain iron accumulation 10.0 SPG11 FA2H DDHD1
35 spastic paraplegia 32, autosomal recessive 10.0 SPG7 SPG21 SPG11
36 spastic paraplegia 57, autosomal recessive 9.9 SPG11 REEP1
37 spastic paraplegia 63, autosomal recessive 9.9 SPG7 SPG21 SPG11
38 spastic paraplegia 55, autosomal recessive 9.9 SPG21 SPG11 DDHD1 CYP2U1
39 parkinson disease 15, autosomal recessive early-onset 9.9 SPG11 FA2H
40 spastic paraplegia 76, autosomal recessive 9.9 SPG11 PNPLA6 GBA2
41 spastic paraplegia 17, autosomal dominant 9.8 SPG21 SPG11 REEP1
42 spastic paraplegia 7, autosomal recessive 9.8 SPG7 PNPLA6
43 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.8 PNPLA6 DDHD2 DDHD1 CYP2U1
44 charcot-marie-tooth disease, axonal, type 2e 9.8 SPG21 SPG11 FA2H CYP2U1
45 spastic paraplegia 5a, autosomal recessive 9.8 SPG7 SPG11 PNPLA6
46 spastic paraplegia 49, autosomal recessive 9.8 SPG21 SPG11 DDHD2 DDHD1 CYP2U1
47 spastic paraplegia 11, autosomal recessive 9.7 SPG7 SPG21 SPG11 AP5Z1
48 spastic paraparesis 9.7 SPG7 SPG11 FA2H DDHD1
49 hereditary spastic paraplegia 72 9.7 SPG21 SPG11 REEP1 AP5Z1
50 spastic paraplegia 61, autosomal recessive 9.7 SPG21 SPG11 REEP1 AP5Z1

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

Human phenotypes related to Spastic Paraplegia 54, Autosomal Recessive:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
8 optic disc hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007766
9 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
10 contractures involving the joints of the feet 58 31 frequent (33%) Frequent (79-30%) HP:0008366
11 periventricular white matter hyperdensities 58 31 frequent (33%) Frequent (79-30%) HP:0030891
12 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
13 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
14 periventricular leukomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006970
15 tip-toe gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0030051
16 bowel incontinence 31 occasional (7.5%) HP:0002607
17 constipation 31 occasional (7.5%) HP:0002019
18 urinary incontinence 31 occasional (7.5%) HP:0000020
19 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609
20 gait disturbance 58 Frequent (79-30%)
21 hyperreflexia 31 HP:0001347
22 telecanthus 31 HP:0000506
23 babinski sign 31 HP:0003487
24 abnormality of the periventricular white matter 31 HP:0002518
25 lower limb muscle weakness 31 HP:0007340

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

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

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

Skeletal Feet:
foot contractures

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

Neurologic Central Nervous System:
hyperreflexia
dysarthria
spastic paraplegia
mental retardation
extensor plantar responses
more
Genitourinary Bladder:
urinary incontinence (rare)

Clinical features from OMIM:

615033

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:

40
Brain, Spinal Cord

Publications for Spastic Paraplegia 54, Autosomal Recessive

Articles related to Spastic Paraplegia 54, Autosomal Recessive:

(show all 16)
# Title Authors PMID Year
1
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). 61 6 56
23486545 2013
2
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. 56 6 61
23176823 2012
3
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 56
24482476 2014
4
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. 6 56
16636240 2006
5
Hereditary Spastic Paraplegia Overview 6
20301682 2000
6
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. 61
31745725 2019
7
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants. 61
31302745 2019
8
The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia. 61
31271950 2019
9
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis. 61
30038238 2018
10
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets. 61
29278326 2018
11
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast. 61
27402848 2016
12
Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54). 61
26113134 2015
13
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. 61
25417924 2014
14
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 61
24833714 2014
15
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. 61
24337409 2014
16
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013

Variations for Spastic Paraplegia 54, Autosomal Recessive

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

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDHD2 NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)SNV Pathogenic 452548 rs201258800 8:38103396-38103396 8:38245878-38245878
2 DDHD2 NM_015214.3(DDHD2):c.371del (p.Lys124fs)deletion Pathogenic 473074 rs1475369039 8:38092061-38092061 8:38234543-38234543
3 DDHD2 NM_015214.3(DDHD2):c.1803del (p.Phe601fs)deletion Pathogenic 540287 rs1312739762 8:38110554-38110554 8:38253036-38253036
4 DDHD2 NM_015214.3(DDHD2):c.694C>T (p.Arg232Ter)SNV Pathogenic 634496 rs1249841130 8:38097864-38097864 8:38240346-38240346
5 DDHD2 NM_015214.3(DDHD2):c.334C>T (p.Arg112Ter)SNV Pathogenic 638323 8:38092025-38092025 8:38234507-38234507
6 DDHD2 NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter)SNV Pathogenic 653596 8:38095064-38095064 8:38237546-38237546
7 DDHD2 NC_000008.11:g.(?_38242230)_(38247855_?)deldeletion Pathogenic 655242 8:38099748-38105373 8:38242230-38247855
8 DDHD2 NM_015214.3(DDHD2):c.1803dup (p.Thr602fs)duplication Pathogenic 39676 8:38110553-38110554 8:38253035-38253036
9 DDHD2 NM_015214.3(DDHD2):c.2057del (p.Glu686fs)deletion Pathogenic 39677 8:38117560-38117560 8:38260042-38260042
10 DDHD2 DDHD2, 1-BP DUP, 138Cduplication Pathogenic 39678
11 DDHD2 NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)SNV Pathogenic 39679 rs375168720 8:38111160-38111160 8:38253642-38253642
12 DDHD2 NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)SNV Pathogenic 39680 rs373856119 8:38109734-38109734 8:38252216-38252216
13 DDHD2 NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)SNV Pathogenic 39681 rs398122826 8:38103270-38103270 8:38245752-38245752
14 DDHD2 NM_015214.3(DDHD2):c.1982_1983del (p.Tyr661fs)deletion Pathogenic 91400 rs398122837 8:38111163-38111164 8:38253645-38253646
15 DDHD2 NM_015214.3(DDHD2):c.1057+5C>GSNV Pathogenic 101083 rs886037659 8:38103473-38103473 8:38245955-38245955
16 DDHD2 NM_015214.3(DDHD2):c.1248+2T>CSNV Likely pathogenic 583003 rs753950471 8:38105355-38105355 8:38247837-38247837
17 DDHD2 NM_015214.3(DDHD2):c.277T>C (p.Leu93=)SNV Conflicting interpretations of pathogenicity 434904 rs544728429 8:38091968-38091968 8:38234450-38234450
18 DDHD2 NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr)indel Conflicting interpretations of pathogenicity 210840 rs797045521 8:38091917-38091918 8:38234399-38234400
19 DDHD2 NM_015214.3(DDHD2):c.1067T>G (p.Ile356Arg)SNV Uncertain significance 849149 8:38103760-38103760 8:38246242-38246242
20 DDHD2 NM_015214.3(DDHD2):c.1547G>A (p.Arg516Gln)SNV Uncertain significance 860257 8:38109735-38109735 8:38252217-38252217
21 DDHD2 NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val)SNV Uncertain significance 430398 rs201386329 8:38109467-38109467 8:38251949-38251949
22 DDHD2 NM_015214.3(DDHD2):c.628C>A (p.Pro210Thr)SNV Uncertain significance 434909 rs376771682 8:38097798-38097798 8:38240280-38240280
23 DDHD2 NM_015214.3(DDHD2):c.608T>C (p.Val203Ala)SNV Uncertain significance 473075 rs755852058 8:38095713-38095713 8:38238195-38238195
24 DDHD2 NM_015214.3(DDHD2):c.1090C>G (p.Gln364Glu)SNV Uncertain significance 473070 rs201156715 8:38103783-38103783 8:38246265-38246265
25 DDHD2 NM_015214.3(DDHD2):c.1477C>T (p.Pro493Ser)SNV Uncertain significance 473071 rs547550120 8:38109665-38109665 8:38252147-38252147
26 DDHD2 NM_015214.3(DDHD2):c.428C>T (p.Ala143Val)SNV Uncertain significance 540288 rs1554512152 8:38095072-38095072 8:38237554-38237554
27 DDHD2 NM_015214.3(DDHD2):c.725G>A (p.Arg242His)SNV Uncertain significance 540290 rs767497993 8:38099780-38099780 8:38242262-38242262
28 DDHD2 NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys)SNV Uncertain significance 540289 rs201656753 8:38111164-38111164 8:38253646-38253646
29 DDHD2 NM_015214.3(DDHD2):c.1834T>G (p.Ser612Ala)SNV Uncertain significance 568523 rs142193606 8:38110588-38110588 8:38253070-38253070
30 DDHD2 NM_015214.3(DDHD2):c.1250C>A (p.Ala417Asp)SNV Uncertain significance 570162 rs376393703 8:38107227-38107227 8:38249709-38249709
31 DDHD2 NM_015214.3(DDHD2):c.379C>G (p.Pro127Ala)SNV Uncertain significance 652678 8:38092070-38092070 8:38234552-38234552
32 DDHD2 NM_015214.3(DDHD2):c.1528G>A (p.Gly510Arg)SNV Uncertain significance 634495 rs1563311817 8:38109716-38109716 8:38252198-38252198
33 DDHD2 NM_015214.3(DDHD2):c.221-1_224deldeletion Uncertain significance 653311 8:38091907-38091911 8:38234389-38234393
34 DDHD2 NM_015214.3(DDHD2):c.1061C>T (p.Ser354Leu)SNV Uncertain significance 639658 8:38103754-38103754 8:38246236-38246236
35 DDHD2 NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu)SNV Uncertain significance 645719 8:38105235-38105235 8:38247717-38247717
36 DDHD2 NM_015214.3(DDHD2):c.1359_1365delinsC (p.Ala454_Pro455del)indel Uncertain significance 649103 8:38109444-38109450 8:38251926-38251932
37 DDHD2 NM_015214.3(DDHD2):c.1873A>C (p.Thr625Pro)SNV Uncertain significance 648161 8:38110627-38110627 8:38253109-38253109
38 DDHD2 NM_015214.3(DDHD2):c.335G>A (p.Arg112Gln)SNV Likely benign 540291 rs781089161 8:38092026-38092026 8:38234508-38234508
39 DDHD2 NM_015214.3(DDHD2):c.930C>T (p.Tyr310=)SNV Likely benign 516316 rs200317856 8:38103341-38103341 8:38245823-38245823
40 DDHD2 NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)SNV Likely benign 507257 rs139004425 8:38109763-38109763 8:38252245-38252245
41 DDHD2 NM_015214.3(DDHD2):c.864A>C (p.Ile288=)SNV Likely benign 473076 rs148904419 8:38103275-38103275 8:38245757-38245757
42 DDHD2 NM_015214.3(DDHD2):c.342G>A (p.Thr114=)SNV Likely benign 473073 rs774309381 8:38092033-38092033 8:38234515-38234515
43 DDHD2 NM_015214.3(DDHD2):c.1720+9G>ASNV Likely benign 734672 8:38110351-38110351 8:38252833-38252833
44 DDHD2 NM_015214.3(DDHD2):c.1779G>A (p.Ser593=)SNV Likely benign 756978 8:38110533-38110533 8:38253015-38253015
45 DDHD2 NM_015214.3(DDHD2):c.899C>T (p.Thr300Ile)SNV Likely benign 696127 8:38103310-38103310 8:38245792-38245792
46 DDHD2 NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)SNV Likely benign 697370 8:38109471-38109471 8:38251953-38251953
47 DDHD2 NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly)SNV Likely benign 210838 rs148664622 8:38105232-38105232 8:38247714-38247714
48 DDHD2 NM_015214.3(DDHD2):c.558G>A (p.Thr186=)SNV Likely benign 385430 rs149994413 8:38095663-38095663 8:38238145-38238145
49 DDHD2 NM_015214.3(DDHD2):c.1168C>T (p.Leu390=)SNV Benign/Likely benign 386289 rs142190071 8:38105273-38105273 8:38247755-38247755
50 DDHD2 NM_015214.3(DDHD2):c.1587G>A (p.Thr529=)SNV Benign/Likely benign 434907 rs141814412 8:38109775-38109775 8:38252257-38252257

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

73
# Symbol AA change Variation ID SNP ID
1 DDHD2 p.Asp660His VAR_069574 rs375168720

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

GO Terms for Spastic Paraplegia 54, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.35 REEP1 PNPLA6 GBA2 FA2H CYP2U1
2 COPII-coated ER to Golgi transport vesicle GO:0030134 9.16 SEC23IP DDHD2
3 endoplasmic reticulum GO:0005783 9.1 SEC23IP REEP1 PNPLA6 GBA2 FA2H CYP2U1

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidic acid biosynthetic process GO:0006654 9.26 DDHD2 DDHD1
2 positive regulation of mitochondrial fission GO:0090141 9.16 DDHD2 DDHD1
3 lipid catabolic process GO:0016042 9.13 PNPLA6 DDHD2 DDHD1
4 lipid metabolic process GO:0006629 9.02 PNPLA6 GBA2 FA2H DDHD2 DDHD1

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 8.8 SEC23IP DDHD2 DDHD1

Sources for Spastic Paraplegia 54, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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50 NDF-RT
53 NINDS
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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