Disease #02819 (SPDRS (salt and pepper developmental regression syndrome (SPDRS)), OMIM:609056)

Official abbreviation SPDRS
Name salt and pepper developmental regression syndrome (SPDRS)
OMIM ID 609056
Human Phenotype Ontology Project (HPO) HPO
Inheritance Digenic dominant
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene ST3GAL5
Associated tissues -
Disease features 124/125 psychomotor delay, 71/125 microcephaly, 98/125 epilepsy, 80/125 dystonia/movement disorder, 16/125 sit/walk independently, 100/125 developmental stagnation/failure to thrive, 118/125 development delay, 41/125 hearing impairment, 38/125 vision impairment, 43/125 abnormal pigmentation, 90/125 irritability, 52/125 feeding difficulties, 30/125 gastrostomy feeding tube, 7/125 facial dysmorphic features, 19/125 scoliosis, 52/125 abnormal electroencephalographic
Remarks published in {PMID:Mu 2024:39533347}
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-11-21 10:21:16 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00132653 - - - M - Pakistan - - - - - SPDRS Epilepsy geneneralized Seizures CACNA1C-AS1, CACNA1C-AS4, CACNA1C-IT3, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CFTR CFTR 1 1 Sumaira Kanwal
00168063 FamK6848 PubMed: Boccuto 2014 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United States African-American - - - - SPDRS see paper; ..., severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, altered dermal pigmentation ST3GAL5 ST3GAL5 1 3 Johan den Dunnen
00168066 Pats PubMed: Wang 2013, PubMed: Wang 2016 38 individuals (19F, 19M), unaffected heterozygous carrier parents/relatives (8 reported before) F;M yes United States - - - - - SPDRS infantile onset of severe irritability (1w-6m), hypotonia, failure to thrive, profound developmental delay and intellectual disability, retractable seizure (severity variable), failed newborn hearing screening ST3GAL5 ST3GAL5 1 26 Johan den Dunnen
00410252 FamPat1 PubMed: Watanabe 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Japan China - - - - SPDRS global developmental delay (HP:0001263); involuntary movements (HP:0004305) (shaking head, flapping limbs); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); scoliosis (HP:0002650); feeding difficulties, irritability, poor eye contact, skin pigmentation; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 25y-severe intellectual disability ST3GAL5 ST3GAL5 2 2 Shiena Watanabe
00457943 FamPat2 PubMed: Watanabe 2023 sister F no Japan China - - - - SPDRS see paper; ..., global developmental delay (HP:0001263); involuntary movements (HP:0004305) (6m-resteless movements); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); feeding difficulties, irritability; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 18y-bedridden, no voluntary/involuntary movements, intractable epilepsy, spastic quadriplegia, severe constipation, requires strict management intestinal dysfunction, frequent treatment for pneumonia - ST3GAL5 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.