MCID: SPS124
MIFTS: 37

Spastic Paraplegia 28, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 75 29 13 6 73
Spg28 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 28 12 59
Hereditary Spastic Paraplegia 28 12 15
Paraplegia, Spastic, Type 28, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 28 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 28
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slow progression
onset in childhood or adolescence (range 6 to 15 years)


HPO:

32
spastic paraplegia 28, autosomal recessive:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 609340
Disease Ontology 12 DOID:0110779
ICD10 33 G11.4
Orphanet 59 ORPHA101008
UMLS via Orphanet 74 C1836295
ICD10 via Orphanet 34 G11.4
MedGen 42 C1836295
MeSH 44 D015419
UMLS 73 C1836295

Summaries for Spastic Paraplegia 28, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 paraplegia and spasticity, and has symptoms including abnormal pyramidal signs An important gene associated with Spastic Paraplegia 28, Autosomal Recessive is DDHD1 (DDHD Domain Containing 1), and among its related pathways/superpathways are Acyl chain remodelling of PE and Lysosome. 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)

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 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 28, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 paraplegia 27.9 AP5Z1 DDHD1 DDHD2 RTN2
2 spasticity 9.9
3 severe intellectual disability and progressive spastic paraplegia 9.9 AP4B1 AP4S1
4 spastic paraplegia 48, autosomal recessive 9.7 AP5Z1 DDHD2
5 spastic paraplegia 33, autosomal dominant 9.6 AP5Z1 RTN2
6 spastic paraplegia 47, autosomal recessive 9.6 AP4B1 AP5Z1
7 spastic paraplegia 15, autosomal recessive 9.6 AP5Z1 DDHD2
8 spastic paraplegia 31, autosomal dominant 9.6 AP5Z1 RTN2
9 spastic paraplegia 2, x-linked 9.5 AP5Z1 RTN2
10 spastic paraplegia 12, autosomal dominant 9.4 AP5Z1 RTN2
11 spastic paraplegia 35, autosomal recessive 9.4 AP5Z1 DDHD2
12 spastic paraplegia 56, autosomal recessive 9.4 AP4S1 DDHD2 RTN2
13 spastic paraplegia 10, autosomal dominant 9.2 AP5Z1 RTN2
14 cerebral palsy 9.2 AP4B1 AP4S1
15 hereditary spastic paraplegia 51 8.4 AP4B1 AP4S1 AP5Z1 RTN2
16 spastic paraplegia 50, autosomal recessive 8.3 AP4B1 AP4S1 AP5Z1 RTN2
17 hereditary spastic paraplegia 8.0 AP4B1 AP5Z1 DDHD1 DDHD2 RTN2
18 spastic paraplegia 54, autosomal recessive 8.0 AP4S1 AP5Z1 DDHD1 DDHD2 RTN2
19 spastic paraplegia 52, autosomal recessive 7.9 AP4B1 AP4S1 AP5Z1 DDHD1 RTN2

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
difficulty walking
lower limb spasticity
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

Human phenotypes related to Spastic Paraplegia 28, Autosomal Recessive:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
2 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
3 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
4 lower limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002061
5 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
6 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
7 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
8 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
9 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
10 abolished vibration sense 59 32 frequent (33%) Frequent (79-30%) HP:0006944
11 pain insensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0007021
12 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
13 impaired tactile sensation 59 32 frequent (33%) Frequent (79-30%) HP:0010830
14 spastic paraplegia 32 HP:0001258
15 difficulty walking 32 HP:0002355
16 distal sensory impairment 32 HP:0002936
17 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477

UMLS symptoms related to Spastic Paraplegia 28, Autosomal Recessive:


abnormal pyramidal signs

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

Publications for Spastic Paraplegia 28, Autosomal Recessive

Variations for Spastic Paraplegia 28, Autosomal Recessive

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

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDHD1 DDHD1, 1766G-A single nucleotide variant Pathogenic
2 DDHD1 DDHD1, 1-BP DEL, 1874T deletion Pathogenic
3 DDHD1 DDHD1, GLN417TER undetermined variant Pathogenic
4 DDHD1 DDHD1, IVS11AS, G-T, -1 single nucleotide variant Pathogenic
5 DDHD1 NM_001160147.1(DDHD1): c.331_336dupGGCGGC (p.Gly112_Ser113insGlyGly) duplication Benign rs140904345 GRCh38 Chromosome 14, 53152763: 53152768
6 DDHD1 NM_001160147.1(DDHD1): c.331_336dupGGCGGC (p.Gly112_Ser113insGlyGly) duplication Benign rs140904345 GRCh37 Chromosome 14, 53619481: 53619486
7 DDHD1 NM_001160147.1(DDHD1): c.1804_1806delGAA (p.Glu602del) deletion Uncertain significance rs772636180 GRCh38 Chromosome 14, 53061183: 53061185
8 DDHD1 NM_001160147.1(DDHD1): c.1804_1806delGAA (p.Glu602del) deletion Uncertain significance rs772636180 GRCh37 Chromosome 14, 53527901: 53527903
9 DDHD1 NM_001160147.1(DDHD1): c.1730G> A (p.Arg577Gln) single nucleotide variant Uncertain significance rs114715404 GRCh38 Chromosome 14, 53063000: 53063000
10 DDHD1 NM_001160147.1(DDHD1): c.1730G> A (p.Arg577Gln) single nucleotide variant Uncertain significance rs114715404 GRCh37 Chromosome 14, 53529718: 53529718
11 DDHD1 NM_001160147.1(DDHD1): c.1524+10A> T single nucleotide variant Benign/Likely benign rs180742508 GRCh38 Chromosome 14, 53072587: 53072587
12 DDHD1 NM_001160147.1(DDHD1): c.1524+10A> T single nucleotide variant Benign/Likely benign rs180742508 GRCh37 Chromosome 14, 53539305: 53539305
13 DDHD1 NM_001160147.1(DDHD1): c.136G> A (p.Gly46Ser) single nucleotide variant Benign rs61985140 GRCh38 Chromosome 14, 53152963: 53152963
14 DDHD1 NM_001160147.1(DDHD1): c.136G> A (p.Gly46Ser) single nucleotide variant Benign rs61985140 GRCh37 Chromosome 14, 53619681: 53619681
15 DDHD1 NM_001160147.1(DDHD1): c.1545A> G (p.Gln515=) single nucleotide variant Benign/Likely benign rs138906273 GRCh37 Chromosome 14, 53529903: 53529903
16 DDHD1 NM_001160147.1(DDHD1): c.1545A> G (p.Gln515=) single nucleotide variant Benign/Likely benign rs138906273 GRCh38 Chromosome 14, 53063185: 53063185
17 DDHD1 NM_001160147.1(DDHD1): c.448G> T (p.Gly150Cys) single nucleotide variant Benign rs73296180 GRCh37 Chromosome 14, 53619369: 53619369
18 DDHD1 NM_001160147.1(DDHD1): c.448G> T (p.Gly150Cys) single nucleotide variant Benign rs73296180 GRCh38 Chromosome 14, 53152651: 53152651
19 DDHD1 NM_001160147.1(DDHD1): c.453G> A (p.Pro151=) single nucleotide variant Benign rs141323589 GRCh37 Chromosome 14, 53619364: 53619364
20 DDHD1 NM_001160147.1(DDHD1): c.453G> A (p.Pro151=) single nucleotide variant Benign rs141323589 GRCh38 Chromosome 14, 53152646: 53152646
21 DDHD1 NM_001160147.1(DDHD1): c.2453C> G (p.Ser818Cys) single nucleotide variant Uncertain significance rs193261227 GRCh38 Chromosome 14, 53054443: 53054443
22 DDHD1 NM_001160147.1(DDHD1): c.2453C> G (p.Ser818Cys) single nucleotide variant Uncertain significance rs193261227 GRCh37 Chromosome 14, 53521161: 53521161
23 DDHD1 NM_001160147.1(DDHD1): c.328_336dupGGCGGCGGC (p.Gly112_Ser113insGlyGlyGly) duplication Benign/Likely benign rs55671452 GRCh38 Chromosome 14, 53152763: 53152771
24 DDHD1 NM_001160147.1(DDHD1): c.328_336dupGGCGGCGGC (p.Gly112_Ser113insGlyGlyGly) duplication Benign/Likely benign rs55671452 GRCh37 Chromosome 14, 53619481: 53619489
25 DDHD1 NM_001160147.1(DDHD1): c.156C> T (p.Gly52=) single nucleotide variant Likely benign rs367621941 GRCh38 Chromosome 14, 53152943: 53152943
26 DDHD1 NM_001160147.1(DDHD1): c.156C> T (p.Gly52=) single nucleotide variant Likely benign rs367621941 GRCh37 Chromosome 14, 53619661: 53619661
27 DDHD1 NM_001160147.1(DDHD1): c.1700T> C (p.Leu567Pro) single nucleotide variant Uncertain significance rs1060502166 GRCh37 Chromosome 14, 53529748: 53529748
28 DDHD1 NM_001160147.1(DDHD1): c.1700T> C (p.Leu567Pro) single nucleotide variant Uncertain significance rs1060502166 GRCh38 Chromosome 14, 53063030: 53063030
29 DDHD1 NM_001160147.1(DDHD1): c.1212A> G (p.Thr404=) single nucleotide variant Benign/Likely benign rs139838546 GRCh37 Chromosome 14, 53558601: 53558601
30 DDHD1 NM_001160147.1(DDHD1): c.1212A> G (p.Thr404=) single nucleotide variant Benign/Likely benign rs139838546 GRCh38 Chromosome 14, 53091883: 53091883
31 DDHD1 NM_001160147.1(DDHD1): c.2429A> G (p.His810Arg) single nucleotide variant Benign rs144016130 GRCh37 Chromosome 14, 53521185: 53521185
32 DDHD1 NM_001160147.1(DDHD1): c.2429A> G (p.His810Arg) single nucleotide variant Benign rs144016130 GRCh38 Chromosome 14, 53054467: 53054467
33 DDHD1 NM_001160147.1(DDHD1): c.2401A> C (p.Thr801Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 53521213: 53521213
34 DDHD1 NM_001160147.1(DDHD1): c.2401A> C (p.Thr801Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 53054495: 53054495
35 DDHD1 NM_001160147.1(DDHD1): c.336_337insGGCGGCGGCGGCGGC (p.Gly112_Ser113insGlyGlyGlyGlyGly) insertion Likely benign GRCh37 Chromosome 14, 53619480: 53619481
36 DDHD1 NM_001160147.1(DDHD1): c.336_337insGGCGGCGGCGGCGGC (p.Gly112_Ser113insGlyGlyGlyGlyGly) insertion Likely benign GRCh38 Chromosome 14, 53152762: 53152763
37 DDHD1 NM_001160147.1(DDHD1): c.280G> C (p.Ala94Pro) single nucleotide variant Uncertain significance rs758060048 GRCh38 Chromosome 14, 53152819: 53152819
38 DDHD1 NM_001160147.1(DDHD1): c.280G> C (p.Ala94Pro) single nucleotide variant Uncertain significance rs758060048 GRCh37 Chromosome 14, 53619537: 53619537
39 DDHD1 NM_001160147.1(DDHD1): c.1034C> T (p.Ala345Val) single nucleotide variant Uncertain significance rs767815843 GRCh37 Chromosome 14, 53560162: 53560162
40 DDHD1 NM_001160147.1(DDHD1): c.1034C> T (p.Ala345Val) single nucleotide variant Uncertain significance rs767815843 GRCh38 Chromosome 14, 53093444: 53093444
41 DDHD1 NM_001160147.1(DDHD1): c.438C> G (p.Thr146=) single nucleotide variant Uncertain significance rs748129023 GRCh37 Chromosome 14, 53619379: 53619379
42 DDHD1 NM_001160147.1(DDHD1): c.438C> G (p.Thr146=) single nucleotide variant Uncertain significance rs748129023 GRCh38 Chromosome 14, 53152661: 53152661
43 DDHD1 NM_001160147.1(DDHD1): c.1524+5G> C single nucleotide variant Uncertain significance rs370071581 GRCh37 Chromosome 14, 53539310: 53539310
44 DDHD1 NM_001160147.1(DDHD1): c.1524+5G> C single nucleotide variant Uncertain significance rs370071581 GRCh38 Chromosome 14, 53072592: 53072592
45 DDHD1 NM_001160147.1(DDHD1): c.1355A> G (p.Asn452Ser) single nucleotide variant Uncertain significance rs772863841 GRCh37 Chromosome 14, 53540521: 53540521
46 DDHD1 NM_001160147.1(DDHD1): c.1355A> G (p.Asn452Ser) single nucleotide variant Uncertain significance rs772863841 GRCh38 Chromosome 14, 53073803: 53073803
47 DDHD1 NM_001160147.1(DDHD1): c.579C> T (p.Ala193=) single nucleotide variant Likely benign rs149564453 GRCh37 Chromosome 14, 53619238: 53619238
48 DDHD1 NM_001160147.1(DDHD1): c.579C> T (p.Ala193=) single nucleotide variant Likely benign rs149564453 GRCh38 Chromosome 14, 53152520: 53152520
49 DDHD1 NM_001160147.1(DDHD1): c.19G> A (p.Gly7Arg) single nucleotide variant Uncertain significance rs1052951644 GRCh37 Chromosome 14, 53619798: 53619798
50 DDHD1 NM_001160147.1(DDHD1): c.19G> A (p.Gly7Arg) single nucleotide variant Uncertain significance rs1052951644 GRCh38 Chromosome 14, 53153080: 53153080

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 DDHD1 DDHD2
2 10.71 AP4B1 AP4S1

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 trans-Golgi network membrane GO:0032588 9.16 AP4B1 AP4S1
2 endosome lumen GO:0031904 8.96 AP4B1 AP4S1
3 AP-4 adaptor complex GO:0030124 8.62 AP4B1 AP4S1

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.5 AP4B1 AP4S1 AP5Z1
2 lipid catabolic process GO:0016042 9.37 DDHD1 DDHD2
3 protein localization GO:0008104 9.26 AP4B1 AP4S1
4 protein targeting GO:0006605 9.16 AP4B1 AP4S1
5 phosphatidic acid biosynthetic process GO:0006654 8.96 DDHD1 DDHD2
6 positive regulation of mitochondrial fission GO:0090141 8.62 DDHD1 DDHD2

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 8.62 DDHD1 DDHD2

Sources for Spastic Paraplegia 28, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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