SPG28
MCID: SPS124
MIFTS: 41

Spastic Paraplegia 28, Autosomal Recessive (SPG28)

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

Aliases & Classifications for Spastic Paraplegia 28, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 28, Autosomal Recessive:

Name: Spastic Paraplegia 28, Autosomal Recessive 57 72 29 13 6 70
Spg28 57 12 58 72
Autosomal Recessive Spastic Paraplegia Type 28 12 58
Hereditary Spastic Paraplegia 28 12 15
Paraplegia, Spastic, Type 28, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 28 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 28
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
onset in childhood or adolescence (range 6 to 15 years)

Inheritance:
autosomal recessive


HPO:

31
spastic paraplegia 28, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110779
OMIM® 57 609340
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C1836295
Orphanet 58 ORPHA101008
MedGen 41 C1836295
UMLS 70 C1836295

Summaries for Spastic Paraplegia 28, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 28, 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. Some SPG28 patients also have distal sensory impairment.

MalaCards based summary : Spastic Paraplegia 28, Autosomal Recessive, also known as spg28, is related to spastic paraplegia 3, autosomal dominant and spastic paraparesis, and has symptoms including abnormal pyramidal signs An important gene associated with Spastic Paraplegia 28, Autosomal Recessive is DDHD1 (DDHD Domain Containing 1). Affiliated tissues include brain, and related phenotypes are hyperreflexia and babinski sign

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the DDHD1 gene on chromosome 14q22.

OMIM® : 57 SPG28 is an autosomal recessive neurodegenerative disorder characterized by early-onset, slowly progressive lower-limb spasticity resulting in walking difficulties. Some patients also have distal sensory impairment (summary by Tesson et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (609340) (Updated 05-Apr-2021)

Related Diseases for Spastic Paraplegia 28, 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
Spastic Paraplegia 83, 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 28, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 29.7 SPG7 SPG11 REEP1
2 spastic paraparesis 29.2 SPG7 SPG11 FA2H DDHD1
3 paraplegia 27.8 SPG7 SPG11 REEP1 PNPLA6 FA2H DDHD2
4 hereditary spastic paraplegia 27.8 SPG7 SPG11 REEP1 PNPLA6 FA2H DDHD2
5 lenz-majewski hyperostotic dwarfism 10.1 DDHD2 DDHD1 CYP2U1
6 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 DDHD2 DDHD1
7 spastic paraplegia 16, x-linked 10.1 SPG7 SPG11
8 spastic paraplegia 32, autosomal recessive 10.1 SPG7 SPG11
9 spastic paraplegia 14, autosomal recessive 10.1 SPG7 SPG11
10 spastic paraplegia 45, autosomal recessive 10.1 SPG11 DDHD2
11 spastic paraplegia 63, autosomal recessive 10.1 SPG7 SPG11
12 spasticity 10.1
13 spastic paraplegia 57, autosomal recessive 10.0 SPG11 REEP1
14 spastic paraplegia 5a, autosomal recessive 10.0 SPG7 SPG11
15 spinocerebellar ataxia, autosomal recessive 20 10.0 SPG11 DDHD2
16 nescav syndrome 10.0 REEP1 AP5Z1
17 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 PNPLA6 DDHD2 DDHD1 CYP2U1
18 spastic paraplegia 7, autosomal recessive 9.9 SPG7 SPG11 PNPLA6
19 spastic paraplegia 52, autosomal recessive 9.9 SPG11 AP5Z1
20 spastic paraplegia 20, autosomal recessive 9.9 SPG7 PNPLA6
21 spastic paraplegia, optic atrophy, and neuropathy 9.9 PNPLA6 AP5Z1
22 sengers syndrome 9.9 DDHD2 DDHD1
23 movement disease 9.9
24 axonal neuropathy 9.9
25 spastic paraplegia 3a 9.9
26 spastic paraplegia 44, autosomal recessive 9.9 SPG11 AP5Z1
27 amyotrophic lateral sclerosis type 5 9.9 SPG11 AP5Z1
28 motor peripheral neuropathy 9.9 SPG7 SPG11 REEP1
29 spastic paraplegia 55, autosomal recessive 9.8 SPG7 SPG11 DDHD1 CYP2U1
30 hereditary spastic paraplegia 51 9.8 SPG7 SPG11 AP5Z1
31 spastic paraplegia 50, autosomal recessive 9.8 SPG7 SPG11 AP5Z1
32 spastic ataxia 9.8 SPG7 SPG11 PNPLA6 DDHD2
33 spastic paraplegia 11, autosomal recessive 9.8 SPG7 SPG11 AP5Z1
34 spastic paraplegia 61, autosomal recessive 9.8 SPG11 REEP1 AP5Z1
35 spastic paraplegia 33, autosomal dominant 9.8 SPG11 REEP1 AP5Z1
36 spastic paraplegia 12, autosomal dominant 9.8 SPG11 REEP1 AP5Z1
37 spinocerebellar ataxia, autosomal recessive 24 9.7 SPG7 PNPLA6 FA2H
38 neurodegeneration with brain iron accumulation 9.7 SPG11 FA2H DDHD1
39 spastic paraplegia 49, autosomal recessive 9.7 SPG7 SPG11 DDHD2 DDHD1 CYP2U1
40 spastic paraplegia 43, autosomal recessive 9.7 SPG11 PNPLA6 FA2H
41 parkinson disease 15, autosomal recessive early-onset 9.7 SPG11 FA2H
42 neuropathy, hereditary sensory, type iic 9.7 SPG11 REEP1 FA2H
43 spastic paraplegia 26, autosomal recessive 9.6 SPG11 REEP1 FA2H
44 hereditary spastic paraplegia 72 9.6 SPG7 SPG11 REEP1 AP5Z1
45 spastic paraplegia 6, autosomal dominant 9.6 SPG7 SPG11 REEP1 AP5Z1
46 spastic paraplegia 31, autosomal dominant 9.6 SPG7 SPG11 REEP1 AP5Z1
47 spastic paraplegia 47, autosomal recessive 9.6 SPG7 SPG11 REEP1 AP5Z1
48 spastic paraplegia 8, autosomal dominant 9.6 SPG7 SPG11 REEP1 AP5Z1
49 spastic paraplegia 10, autosomal dominant 9.6 SPG7 SPG11 REEP1 AP5Z1
50 complex hereditary spastic paraplegia 9.6 SPG7 SPG11 FA2H DDHD2

Graphical network of the top 20 diseases related to Spastic Paraplegia 28, Autosomal Recessive:



Diseases related to Spastic Paraplegia 28, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 28, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 28, Autosomal Recessive:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
5 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
6 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
7 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
8 pain insensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0007021
9 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
10 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
11 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
12 impaired tactile sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010830
13 abolished vibration sense 58 31 frequent (33%) Frequent (79-30%) HP:0006944
14 peripheral axonal neuropathy 31 occasional (7.5%) HP:0003477
15 spastic paraplegia 31 HP:0001258
16 difficulty walking 31 HP:0002355
17 distal sensory impairment 31 HP:0002936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
difficulty walking
pyramidal signs
extensor plantar responses
more
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
distal sensory impairment in lower limbs
axonal neuropathy (in some patients)

Skeletal Spine:
scoliosis

Head And Neck Eyes:
saccadic pursuit (rare)

Clinical features from OMIM®:

609340 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 28, Autosomal Recessive:


abnormal pyramidal signs

MGI Mouse Phenotypes related to Spastic Paraplegia 28, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 AP5Z1 CYP2U1 DDHD2 FA2H PNPLA6 POU2F3

Drugs & Therapeutics for Spastic Paraplegia 28, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 28, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 28, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 28, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 28, Autosomal Recessive 29 DDHD1

Anatomical Context for Spastic Paraplegia 28, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 28, Autosomal Recessive:

40
Brain

Publications for Spastic Paraplegia 28, Autosomal Recessive

Articles related to Spastic Paraplegia 28, Autosomal Recessive:

(show all 14)
# Title Authors PMID Year
1
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 57 6 61
15786464 2005
2
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 6 57
23176821 2012
3
Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia. 61
33600578 2021
4
The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase. 61
30221923 2018
5
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis. 61
30038238 2018
6
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia. 61
27216551 2016
7
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast. 61
27402848 2016
8
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28. 61
26944165 2016
9
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis. 61
27999540 2016
10
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations. 61
24989667 2014
11
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
12
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 61
19439420 2009
13
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. 61
17661097 2007
14
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. 61
17503452 2007

Variations for Spastic Paraplegia 28, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 28, Autosomal Recessive:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDHD1 DDHD1, 1766G-A SNV Pathogenic 39671 GRCh37:
GRCh38:
2 DDHD1 DDHD1, 1-BP DEL, 1874T Deletion Pathogenic 39672 GRCh37:
GRCh38:
3 DDHD1 DDHD1, GLN417TER Variation Pathogenic 39673 GRCh37:
GRCh38:
4 DDHD1 DDHD1, IVS11AS, G-T, -1 SNV Pathogenic 39674 GRCh37:
GRCh38:
5 DDHD1 NM_001160148.2(DDHD1):c.971del (p.Asn324fs) Deletion Pathogenic 954039 GRCh37: 14:53570442-53570442
GRCh38: 14:53103724-53103724
6 DDHD1 NM_001160148.2(DDHD1):c.1044dup (p.Val349fs) Duplication Pathogenic 951954 GRCh37: 14:53560130-53560131
GRCh38: 14:53093412-53093413
7 DDHD1 NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs) Duplication Pathogenic 422933 rs760208786 GRCh37: 14:53529672-53529673
GRCh38: 14:53062954-53062955
8 DDHD1 NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys) SNV Likely pathogenic 800955 rs147133475 GRCh37: 14:53518639-53518639
GRCh38: 14:53051921-53051921
9 DDHD1 NM_001160148.2(DDHD1):c.1673A>G (p.Gln558Arg) SNV Uncertain significance 945344 GRCh37: 14:53529754-53529754
GRCh38: 14:53063036-53063036
10 DDHD1 NM_001160148.2(DDHD1):c.578C>T (p.Ala193Val) SNV Uncertain significance 948696 GRCh37: 14:53619239-53619239
GRCh38: 14:53152521-53152521
11 DDHD1 NM_001160148.2(DDHD1):c.688_689delinsAT (p.Asp230Ile) Indel Uncertain significance 843923 GRCh37: 14:53619128-53619129
GRCh38: 14:53152410-53152411
12 DDHD1 NM_001160148.2(DDHD1):c.100T>G (p.Phe34Val) SNV Uncertain significance 849874 GRCh37: 14:53619717-53619717
GRCh38: 14:53152999-53152999
13 DDHD1 NM_001160148.2(DDHD1):c.2399C>T (p.Thr800Ile) SNV Uncertain significance 938027 GRCh37: 14:53521194-53521194
GRCh38: 14:53054476-53054476
14 DDHD1 NM_001160148.2(DDHD1):c.14G>C (p.Gly5Ala) SNV Uncertain significance 1003115 GRCh37: 14:53619803-53619803
GRCh38: 14:53153085-53153085
15 DDHD1 NM_001160148.2(DDHD1):c.1321A>G (p.Arg441Gly) SNV Uncertain significance 1003773 GRCh37: 14:53540534-53540534
GRCh38: 14:53073816-53073816
16 DDHD1 NM_001160148.2(DDHD1):c.2541del (p.Ile847fs) Deletion Uncertain significance 1007574 GRCh37: 14:53513648-53513648
GRCh38: 14:53046930-53046930
17 DDHD1 NM_001160148.2(DDHD1):c.718A>G (p.Ser240Gly) SNV Uncertain significance 1010408 GRCh37: 14:53619099-53619099
GRCh38: 14:53152381-53152381
18 DDHD1 NM_001160148.2(DDHD1):c.146C>T (p.Pro49Leu) SNV Uncertain significance 848650 GRCh37: 14:53619671-53619671
GRCh38: 14:53152953-53152953
19 DDHD1 NM_001160148.2(DDHD1):c.1597A>G (p.Ile533Val) SNV Uncertain significance 852401 GRCh37: 14:53529830-53529830
GRCh38: 14:53063112-53063112
20 DDHD1 NM_001160148.2(DDHD1):c.1010A>T (p.Asp337Val) SNV Uncertain significance 945137 GRCh37: 14:53570403-53570403
GRCh38: 14:53103685-53103685
21 DDHD1 NM_001160148.2(DDHD1):c.1120C>A (p.Gln374Lys) SNV Uncertain significance 949744 GRCh37: 14:53560055-53560055
GRCh38: 14:53093337-53093337
22 DDHD1 NM_001160148.2(DDHD1):c.1342A>G (p.Thr448Ala) SNV Uncertain significance 1018848 GRCh37: 14:53540513-53540513
GRCh38: 14:53073795-53073795
23 DDHD1 NM_001160148.2(DDHD1):c.259G>A (p.Glu87Lys) SNV Uncertain significance 1023194 GRCh37: 14:53619558-53619558
GRCh38: 14:53152840-53152840
24 DDHD1 NM_001160148.2(DDHD1):c.716A>G (p.Gln239Arg) SNV Uncertain significance 1024299 GRCh37: 14:53619101-53619101
GRCh38: 14:53152383-53152383
25 DDHD1 NM_001160148.2(DDHD1):c.1842+6_1842+10del Deletion Uncertain significance 1024418 GRCh37: 14:53527834-53527838
GRCh38: 14:53061116-53061120
26 DDHD1 NM_001160148.2(DDHD1):c.976G>C (p.Asp326His) SNV Uncertain significance 576186 rs145456012 GRCh37: 14:53570437-53570437
GRCh38: 14:53103719-53103719
27 DDHD1 NM_001160148.2(DDHD1):c.688G>T (p.Asp230Tyr) SNV Uncertain significance 835626 GRCh37: 14:53619129-53619129
GRCh38: 14:53152411-53152411
28 DDHD1 NM_001160148.2(DDHD1):c.3G>A (p.Met1Ile) SNV Uncertain significance 852402 GRCh37: 14:53619814-53619814
GRCh38: 14:53153096-53153096
29 DDHD1 NM_001160148.2(DDHD1):c.1993-9T>A SNV Uncertain significance 863038 GRCh37: 14:53522639-53522639
GRCh38: 14:53055921-53055921
30 DDHD1 NM_001160148.2(DDHD1):c.312C>T (p.Ser104=) SNV Uncertain significance 968825 GRCh37: 14:53619505-53619505
GRCh38: 14:53152787-53152787
31 DDHD1 NM_001160148.2(DDHD1):c.182G>C (p.Gly61Ala) SNV Uncertain significance 969268 GRCh37: 14:53619635-53619635
GRCh38: 14:53152917-53152917
32 DDHD1 NM_001160148.2(DDHD1):c.455C>T (p.Ala152Val) SNV Uncertain significance 1045737 GRCh37: 14:53619362-53619362
GRCh38: 14:53152644-53152644
33 DDHD1 NM_001160148.2(DDHD1):c.1709G>A (p.Arg570Gln) SNV Uncertain significance 238599 rs114715404 GRCh37: 14:53529718-53529718
GRCh38: 14:53063000-53063000
34 DDHD1 NM_001160148.2(DDHD1):c.836A>G (p.Asn279Ser) SNV Uncertain significance 838491 GRCh37: 14:53618981-53618981
GRCh38: 14:53152263-53152263
35 DDHD1 NM_001160148.2(DDHD1):c.1012+647A>C SNV Uncertain significance 847454 GRCh37: 14:53569754-53569754
GRCh38: 14:53103036-53103036
36 DDHD1 NM_001160148.2(DDHD1):c.2552T>C (p.Leu851Pro) SNV Uncertain significance 960413 GRCh37: 14:53513637-53513637
GRCh38: 14:53046919-53046919
37 DDHD1 NM_001160148.2(DDHD1):c.293C>T (p.Ser98Phe) SNV Uncertain significance 961258 GRCh37: 14:53619524-53619524
GRCh38: 14:53152806-53152806
38 DDHD1 NM_001160148.2(DDHD1):c.325GGC[5] (p.Gly112dup) Microsatellite Uncertain significance 965736 GRCh37: 14:53619480-53619481
GRCh38: 14:53152762-53152763
39 DDHD1 NM_001160148.2(DDHD1):c.1503+3_1503+6del Microsatellite Uncertain significance 968619 GRCh37: 14:53539309-53539312
GRCh38: 14:53072591-53072594
40 DDHD1 NM_001160148.2(DDHD1):c.1780_1782GAA[1] (p.Glu595del) Microsatellite Uncertain significance 238600 rs772636180 GRCh37: 14:53527901-53527903
GRCh38: 14:53061183-53061185
41 DDHD1 NM_001160148.2(DDHD1):c.1503+5G>C SNV Uncertain significance 532958 rs370071581 GRCh37: 14:53539310-53539310
GRCh38: 14:53072592-53072592
42 DDHD1 NM_001160148.2(DDHD1):c.1334A>G (p.Asn445Ser) SNV Uncertain significance 532959 rs772863841 GRCh37: 14:53540521-53540521
GRCh38: 14:53073803-53073803
43 DDHD1 NM_001160148.2(DDHD1):c.19G>A (p.Gly7Arg) SNV Uncertain significance 532960 rs1052951644 GRCh37: 14:53619798-53619798
GRCh38: 14:53153080-53153080
44 DDHD1 NM_001160148.2(DDHD1):c.2276G>A (p.Gly759Glu) SNV Uncertain significance 573202 rs763441792 GRCh37: 14:53521317-53521317
GRCh38: 14:53054599-53054599
45 DDHD1 NM_001160148.2(DDHD1):c.863G>A (p.Arg288His) SNV Uncertain significance 575789 rs904259357 GRCh37: 14:53570550-53570550
GRCh38: 14:53103832-53103832
46 DDHD1 NM_001160148.2(DDHD1):c.1895G>A (p.Arg632His) SNV Uncertain significance 580952 rs749263468 GRCh37: 14:53525292-53525292
GRCh38: 14:53058574-53058574
47 DDHD1 NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys) SNV Uncertain significance 408872 rs193261227 GRCh37: 14:53521161-53521161
GRCh38: 14:53054443-53054443
48 DDHD1 NM_001160148.2(DDHD1):c.1679T>C (p.Leu560Pro) SNV Uncertain significance 408873 rs1060502166 GRCh37: 14:53529748-53529748
GRCh38: 14:53063030-53063030
49 DDHD1 NM_001160148.2(DDHD1):c.280G>C (p.Ala94Pro) SNV Uncertain significance 464310 rs758060048 GRCh37: 14:53619537-53619537
GRCh38: 14:53152819-53152819
50 DDHD1 NM_001160148.2(DDHD1):c.2380A>C (p.Thr794Pro) SNV Uncertain significance 464308 rs1555330109 GRCh37: 14:53521213-53521213
GRCh38: 14:53054495-53054495

Expression for Spastic Paraplegia 28, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 28, Autosomal Recessive.

Pathways for Spastic Paraplegia 28, Autosomal Recessive

GO Terms for Spastic Paraplegia 28, Autosomal Recessive

Cellular components related to Spastic Paraplegia 28, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 COPII-coated ER to Golgi transport vesicle GO:0030134 8.62 SEC23IP DDHD2

Biological processes related to Spastic Paraplegia 28, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.46 PNPLA6 FA2H DDHD2 DDHD1
2 phosphatidic acid biosynthetic process GO:0006654 9.26 DDHD2 DDHD1
3 positive regulation of mitochondrial fission GO:0090141 8.96 DDHD2 DDHD1
4 lipid catabolic process GO:0016042 8.8 PNPLA6 DDHD2 DDHD1

Molecular functions related to Spastic Paraplegia 28, 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 28, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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