SINO
MCID: SPS204
MIFTS: 38

Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity (SINO)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

MalaCards integrated aliases for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

Name: Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 58 76 30 6
Sino Syndrome 60 41
Sino 58 76
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated january, 2017)


HPO:

33
spastic paraplegia, intellectual disability, nystagmus, and obesity:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

OMIM : 58 Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016). (617296)

MalaCards based summary : Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity, also known as sino syndrome, is related to sino-auricular heart block and sick sinus syndrome. An important gene associated with Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity is KIDINS220 (Kinase D Interacting Substrate 220). Affiliated tissues include heart, testes and eye, and related phenotypes are obesity and nystagmus

UniProtKB/Swiss-Prot : 76 Spastic paraplegia, intellectual disability, nystagmus, and obesity: An autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features.

Related Diseases for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Diseases related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 sino-auricular heart block 12.3
2 sick sinus syndrome 11.5
3 familial sick sinus syndrome 11.1
4 aspergillosis 10.6
5 alacrima, achalasia, and mental retardation syndrome 10.3
6 paraplegia 10.3
7 pathologic nystagmus 10.3
8 mucormycosis 10.2
9 atrial standstill 1 10.1
10 asthma 10.1
11 sinusitis 10.1
12 lymphoma 10.1
13 thrombophilia due to thrombin defect 10.1
14 thrombosis 10.1
15 melanoma 10.1
16 osteoblastoma 10.0
17 ischemia 10.0
18 rhinitis 10.0
19 depression 10.0
20 achondroplasia 9.9
21 blood group--ul system 9.9
22 frasier syndrome 9.9
23 cystic fibrosis 9.9
24 hemangiopericytoma, malignant 9.9
25 ventricular fibrillation, paroxysmal familial, 1 9.9
26 aplastic anemia 9.9
27 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
28 cataract 9.9
29 leukemia 9.9
30 temporal lobe epilepsy 9.9
31 atrioventricular block 9.9
32 fibrous dysplasia 9.9
33 squamous cell papilloma 9.9
34 epilepsy 9.9
35 papilloma 9.9
36 adenocarcinoma 9.9
37 inverted papilloma 9.9
38 hypoxia 9.9
39 headache 9.9
40 breast cancer 9.8
41 schizophrenia 9.8
42 thyroid cancer, nonmedullary, 2 9.8
43 myasthenia gravis 9.8
44 aging 9.8
45 yemenite deaf-blind hypopigmentation syndrome 9.8
46 pulmonary disease, chronic obstructive 9.8
47 nasopharyngeal carcinoma 9.8
48 malaria 9.8
49 lung cancer susceptibility 3 9.8
50 gastric cancer 9.8

Graphical network of the top 20 diseases related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:



Diseases related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Symptoms & Phenotypes for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Human phenotypes related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
2 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
4 prominent forehead 60 33 frequent (33%) Frequent (79-30%) HP:0011220
5 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
6 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
7 plagiocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0001357
8 progressive spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0007020
9 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
10 delayed gross motor development 60 33 frequent (33%) Frequent (79-30%) HP:0002194
11 hypermetropia 60 33 frequent (33%) Frequent (79-30%) HP:0000540
12 abnormal cns myelination 60 33 frequent (33%) Frequent (79-30%) HP:0011400
13 esophoria 60 33 frequent (33%) Frequent (79-30%) HP:0025312
14 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561
15 partial agenesis of the corpus callosum 33 occasional (7.5%) HP:0001338
16 hyperreflexia 33 HP:0001347
17 global developmental delay 33 HP:0001263
18 delayed speech and language development 33 HP:0000750
19 full cheeks 33 HP:0000293
20 reduced visual acuity 33 HP:0007663
21 spastic paraplegia 33 HP:0001258
22 astigmatism 33 HP:0000483
23 cerebral atrophy 33 HP:0002059
24 esotropia 33 HP:0000565
25 dilation of lateral ventricles 33 HP:0006956
26 muscular hypotonia of the trunk 33 HP:0008936
27 limb hypertonia 33 HP:0002509
28 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
astigmatism
esotropia
hypermetropia
deep-set eyes
more
Head And Neck Head:
prominent forehead
enlarged head circumference
brachyplagiocephaly

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Growth Weight:
obesity, postnatal

Neurologic Central Nervous System:
intellectual disability
hyperreflexia
spastic paraplegia
cerebral atrophy
delayed myelination
more
Head And Neck Face:
full cheeks

Growth Height:
increased height compared to age-matched controls, postnatal

Clinical features from OMIM:

617296

Drugs & Therapeutics for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Genetic Tests for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Genetic tests related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

# Genetic test Affiliating Genes
1 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 30 KIDINS220

Anatomical Context for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

MalaCards organs/tissues related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

42
Heart, Testes, Eye, Thyroid, T Cells, Bone, Temporal Lobe

Publications for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Articles related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

(show top 50) (show all 731)
# Title Authors Year
1
A rare case of invasive sino-orbital aspergillosis arising from isolated frontal sinus infection. ( 30851789 )
2019
2
The impact of comorbid depression in chronic rhinosinusitis on post-operative sino-nasal quality of life and pain following endoscopic sinus surgery. ( 31039822 )
2019
3
Sino-Nasal Anatomical Variations in Rhinogenic Headache Pathogenesis: A Case-Control Clinical Study. ( 30817544 )
2019
4
Is post orthognathic maxillary sinusitis related to sino-nasal anatomical alterations? ( 30935854 )
2019
5
A Child with Tuberculous Meningitis Complicated by Cortical Venous and Cerebral Sino-Venous Thrombosis. ( 30623313 )
2019
6
Primary Sino-nasal Neuroendocrine Carcinoma: A Rare Tumor. ( 31058027 )
2019
7
A rare case of nasal biphenotypic sino-nasal sarcoma in a young female. ( 30555691 )
2019
8
Prenatal war exposure and schizophrenia in adulthood: evidence from the Sino-Japanese War of 1937-1945. ( 30269260 )
2019
9
Comparison of Sino-Nasal Outcome Test 22 Symptom Scores in Rhinogenic and Odontogenic Sinusitis. ( 30311505 )
2019
10
Dynamics of breast imaging research: A global scoping review and Sino-Australian comparison case study. ( 30629713 )
2019
11
Patterns of cardiovascular variability after long-term sino-aortic denervation in unanesthetized adult rats. ( 30718760 )
2019
12
Invasive sino-orbital fungal infections in immunocompetent patients: a clinico-pathological study. ( 30765886 )
2019
13
Turkish Validation of The Sino-Nasal Outcome Test-22. ( 30891883 )
2019
14
Does China become the "pollution heaven" in South-South trade? Evidence from Sino-Russian trade. ( 30970503 )
2019
15
Phylogenetic evidence for Sino-Tibetan origin in northern China in the Late Neolithic. ( 31019300 )
2019
16
The origin and spread of the Sino-Tibetan language family. ( 31036967 )
2019
17
Dated language phylogenies shed light on the ancestry of Sino-Tibetan. ( 31061123 )
2019
18
Study on the Genetic Differentiation of Geographic Populations of Calliptamus italicus (Orthoptera: Acrididae) in Sino-Kazakh Border Areas Based on Mitochondrial COI and COII Genes. ( 31086944 )
2019
19
Recurrent pituitary adenoma presenting as an isolated sino-orbital mass. ( 30370579 )
2018
20
Minimally invasive treatment of sino-nasal aspergillosis in dogs. ( 30325062 )
2018
21
Sino-orbital desmoid tumor in a pediatric patient - Case report with review of literature. ( 30587044 )
2018
22
Primary sino-orbital peripheral T-cell lymphoma presenting as unilateral periorbital swelling: a case report. ( 30450324 )
2018
23
Ophtalmoplegia complicating sino-orbital mucormycosis. ( 30325492 )
2018
24
Sublobar resections for small-sized stage Ia lung adenocarcinoma: a Sino-Japanese multicenter study. ( 29607172 )
2018
25
Sino-Austrian High-Tech Acupuncture Network: Annual Report 2017. ( 29329241 )
2018
26
Possible Breathing Influences on the Control of Arterial Pressure After Sino-aortic Denervation in Rats. ( 29356918 )
2018
27
Study protocol for One Health data collections, analyses and intervention of the Sino-Swedish integrated multisectoral partnership for antibiotic resistance containment (IMPACT). ( 29358424 )
2018
28
Primulina malipoensis (Gesneriaceae), a new species from Sino-Vietnamese border area. ( 29416425 )
2018
29
Psychometric Arabic Sino-Nasal Outcome Test-22: validation and translation in chronic rhinosinusitis patients. ( 29419525 )
2018
30
Note: Development of a multichannel magnetic probe array for magnetohydrodynamic activity studies in Sino-United Spherical Tokamak. ( 29495849 )
2018
31
Assessing prevalence of missed laboratory-confirmed sexually transmitted infections among women in Kingston, Jamaica: results from a secondary analysis of the Sino-Implant clinical trial. ( 29654017 )
2018
32
Use of a Contralateral Nasoseptal Flap for Sino-Orbital Fistula Closure. ( 29723950 )
2018
33
Nasopharyngeal versus hypopharyngeal packing during sino-nasal surgeries: Randomised controlled trial. ( 29738635 )
2018
34
Eosinophilic angiocentric fibrosis : a sino-orbital masquerader. ( 30093462 )
2018
35
Is sino-nasal outcome test-22 reliable for guiding chronic rhinosinusitis patients for endoscopic sinus surgery? ( 30156212 )
2018
36
Visual analogue scale for sino-nasal symptoms severity correlates with sino-nasal outcome test 22: paving the way for a simple outcome tool of CRS burden. ( 30186592 )
2018
37
Sino-Orbital Fungal Infection by Tilletiopsis minor, a Rare Human Pathogen, Diagnosed by Internal Transcribed Spacer Sequencing. ( 30198982 )
2018
38
Sino-Australian University Partnership in Health Management Education. ( 30246005 )
2018
39
Firing properties of ventral medullary respiratory neurons in sino-aortic denervated rats. ( 30427561 )
2018
40
The 7th Sino-German Frontiers of Chemistry Symposium - Learning from Nature. ( 30480361 )
2018
41
Relationships between humans and ungulate prey shape Amur tiger occurrence in a core protected area along the Sino-Russian border. ( 30598766 )
2018
42
High-Tech Acupuncture for Prevention of Lifestyle Diseases-A Sino-Austrian Cooperation Research Protocol on Heart Rate Variability. ( 28634863 )
2018
43
The intraoperative use of polydioxanone foil to reduce the risk of sino-orbital fistula formation in orbital exenteration. ( 29039988 )
2018
44
Sino-Nasal Outcome Test-22 quality-of-life patterns in patients presenting with nasal septal perforation. ( 29130649 )
2018
45
Sino-Nasal outcome test-22 outcomes after sinus surgery: A systematic review and meta-analysis. ( 29164622 )
2018
46
Treatment of refractory sino-nasal aspergillosis with posaconazole and terbinafine in 10 dogs. ( 28485470 )
2017
47
Invasive Sino-orbital-skull Base Aspergillosis Progressing from Aspergillus Ball of Maxillary Sinus: A Case Report. ( 30480192 )
2017
48
Seven cases of localized invasive sino-orbital aspergillosis. ( 28097453 )
2017
49
Reliability and validity study of Sino-nasal outcome test 22 (Thai version) in chronic rhinosinusitis. ( 29299021 )
2017
50
Non-Exenteration Management of Sino-Orbital Fungal Disease. ( 27768645 )
2017

Variations for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

ClinVar genetic disease variations for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIDINS220 NM_020738.3(KIDINS220): c.4050G> A (p.Trp1350Ter) single nucleotide variant Pathogenic rs1057519300 GRCh37 Chromosome 2, 8873577: 8873577
2 KIDINS220 NM_020738.3(KIDINS220): c.4050G> A (p.Trp1350Ter) single nucleotide variant Pathogenic rs1057519300 GRCh38 Chromosome 2, 8733447: 8733447
3 KIDINS220 NM_020738.3(KIDINS220): c.4096C> T (p.Gln1366Ter) single nucleotide variant Pathogenic rs1057519301 GRCh37 Chromosome 2, 8872070: 8872070
4 KIDINS220 NM_020738.3(KIDINS220): c.4096C> T (p.Gln1366Ter) single nucleotide variant Pathogenic rs1057519301 GRCh38 Chromosome 2, 8731940: 8731940
5 KIDINS220 NM_020738.3(KIDINS220): c.4520dup (p.Leu1507Phefs) duplication Pathogenic rs1057519302 GRCh37 Chromosome 2, 8871646: 8871646
6 KIDINS220 NM_020738.3(KIDINS220): c.4520dup (p.Leu1507Phefs) duplication Pathogenic rs1057519302 GRCh38 Chromosome 2, 8731516: 8731516
7 KIDINS220 NM_020738.3(KIDINS220): c.4138C> T (p.Gln1380Ter) single nucleotide variant Likely pathogenic rs1553305080 GRCh37 Chromosome 2, 8872028: 8872028
8 KIDINS220 NM_020738.3(KIDINS220): c.4138C> T (p.Gln1380Ter) single nucleotide variant Likely pathogenic rs1553305080 GRCh38 Chromosome 2, 8731898: 8731898
9 KIDINS220 NM_020738.3(KIDINS220): c.974A> G (p.Asn325Ser) single nucleotide variant not provided rs77973158 GRCh38 Chromosome 2, 8798227: 8798227
10 KIDINS220 NM_020738.3(KIDINS220): c.974A> G (p.Asn325Ser) single nucleotide variant not provided rs77973158 GRCh37 Chromosome 2, 8938357: 8938357
11 KIDINS220 NM_001348738.1(KIDINS220): c.299G> A (p.Arg100His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 8957755: 8957755
12 KIDINS220 NM_001348738.1(KIDINS220): c.299G> A (p.Arg100His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 8817625: 8817625

Expression for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Search GEO for disease gene expression data for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity.

Pathways for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

GO Terms for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Sources for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

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