MCID: SPS204
MIFTS: 25

Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Categories: Genetic diseases, Metabolic 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 57 75 29 6
Sino 57 75
Sino Syndrome 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 57 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, 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 eye, and related phenotypes are full cheeks and astigmatism

UniProtKB/Swiss-Prot : 75 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 all 46)
# Related Disease Score Top Affiliating Genes
1 sino-auricular heart block 12.1
2 sick sinus syndrome 11.3
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 paraplegia 10.2
5 spasticity 10.2
6 aspergillosis 10.1
7 sinusitis 9.9
8 osteoblastoma 9.9
9 cataract 9.8
10 lymphoma 9.8
11 fibrous dysplasia 9.8
12 papilloma 9.8
13 inverted papilloma 9.8
14 cerebritis 9.8
15 rhinitis 9.8
16 zygomycosis 9.8
17 atrial standstill 1 9.7
18 thrombophilia due to thrombin defect 9.7
19 hemangiopericytoma, malignant 9.7
20 paine syndrome 9.7
21 aging 9.7
22 asthma 9.7
23 aplastic anemia 9.7
24 beta-thalassemia 9.7
25 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
26 acute leukemia 9.7
27 leukemia 9.7
28 thalassemia 9.7
29 inflammatory myofibroblastic tumor 9.7
30 nut midline carcinoma 9.7
31 thrombosis 9.7
32 mucositis 9.7
33 rhinoscleroma 9.7
34 cystic echinococcosis 9.7
35 echinococcosis 9.7
36 giant cell reparative granuloma 9.7
37 melanoma 9.7
38 maxillary sinusitis 9.7
39 nocardiosis 9.7
40 cranial nerve palsy 9.7
41 radiculopathy 9.7
42 cocaine abuse 9.7
43 orbital disease 9.7
44 bronchiectasis 9.7
45 polymorphic reticulosis 9.7
46 thyrotoxic periodic paralysis 9.7

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 full cheeks 32 HP:0000293
2 astigmatism 32 HP:0000483
3 deeply set eye 32 HP:0000490
4 hypermetropia 32 HP:0000540
5 esotropia 32 HP:0000565
6 nystagmus 32 HP:0000639
7 delayed speech and language development 32 HP:0000750
8 intellectual disability 32 HP:0001249
9 spastic paraplegia 32 HP:0001258
10 global developmental delay 32 HP:0001263
11 partial agenesis of the corpus callosum 32 occasional (7.5%) HP:0001338
12 hyperreflexia 32 HP:0001347
13 cerebral atrophy 32 HP:0002059
14 limb hypertonia 32 HP:0002509
15 dilation of lateral ventricles 32 HP:0006956
16 reduced visual acuity 32 HP:0007663
17 muscular hypotonia of the trunk 32 HP:0008936
18 prominent forehead 32 HP:0011220
19 delayed myelination 32 HP:0012448

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 29 KIDINS220

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

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

41
Eye

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

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

# Title Authors Year
1
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. ( 27005418 )
2016

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

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

6
# 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.4520dupT (p.Leu1507Phefs) duplication Pathogenic rs1057519302 GRCh37 Chromosome 2, 8871646: 8871646
6 KIDINS220 NM_020738.3(KIDINS220): c.4520dupT (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 GRCh37 Chromosome 2, 8872028: 8872028
8 KIDINS220 NM_020738.3(KIDINS220): c.4138C> T (p.Gln1380Ter) single nucleotide variant Likely pathogenic 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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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