Salt and Pepper Developmental Regression Syndrome (SPDRS)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Salt and Pepper Developmental Regression Syndrome

MalaCards integrated aliases for Salt and Pepper Developmental Regression Syndrome:

Name: Salt and Pepper Developmental Regression Syndrome 57 72
Amish Infantile Epilepsy Syndrome 57 20 43 72 36 13 70
Gm3 Synthase Deficiency 57 20 43 58 72 29 6
Epilepsy Syndrome, Infantile-Onset Symptomatic 57 20 43
Salt and Pepper Mental Retardation Syndrome 57 72
St3gal5-Cdg 20 58
Spdrs 57 72
Infantile-Onset Symptomatic Epilepsy Syndrome - Developmental Stagnation - Blindness 20
Syndrome, Salt and Pepper Developmental Regression 39
Infantile-Onset Symptomatic Epilepsy Syndrome 43
Epilepsy Syndrome Infantile-Onset Symptomatic 72
Ganglioside Gm3 Synthase Deficiency 43
Salt and Pepper Syndrome 20
Aies 72



57 (Updated 20-May-2021)
autosomal recessive

onset in early infancy, between 2 weeks and 3 months
old order amish, african american, french, and korean patients have been described
hyperpigmented skin macules appear after age 3 years and increase in frequency with age


salt and pepper developmental regression syndrome:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism

Summaries for Salt and Pepper Developmental Regression Syndrome

MedlinePlus Genetics : 43 GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.GM3 synthase deficiency profoundly disrupts brain development. Most affected children have severe intellectual disability and do not develop skills such as reaching for objects, speaking, sitting without support, or walking. Some have involuntary twisting or jerking movements of the arms that are described as choreoathetoid. Although affected infants can likely see and hear at birth, vision and hearing become impaired as the disease worsens. It is unknown how long people with GM3 synthase deficiency usually survive.Some affected individuals have changes in skin coloring (pigmentation), including dark freckle-like spots on the arms and legs and light patches on the arms, legs, and face. These changes appear in childhood and may become more or less apparent over time. The skin changes do not cause any symptoms, but they can help doctors diagnose GM3 synthase deficiency in children who also have seizures and delayed development.

MalaCards based summary : Salt and Pepper Developmental Regression Syndrome, also known as amish infantile epilepsy syndrome, is related to yemenite deaf-blind hypopigmentation syndrome and salt and pepper syndrome, and has symptoms including vomiting and unspecified visual loss. An important gene associated with Salt and Pepper Developmental Regression Syndrome is ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5), and among its related pathways/superpathways is Glycosphingolipid biosynthesis - ganglio series. The drugs Evolocumab and Naproxen have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and brain, and related phenotypes are hearing impairment and microcephaly

GARD : 20 GM3 synthase deficiency is a rare neurological disorder in which the brain does not develop normally. Symptoms of the disease begin within the first weeks or months of life and include difficulty feeding, irritability, vomiting, and seizures accompanied by loss of consciousness ( grand mal seizures ). Vision and hearing loss, spots of darker skin color ( hyperpigmentation ), and intellectual and developmental delays develop as the disease progresses. GM3 synthase deficiency is a congenital disorder of glycosylation and includes both cases described as Amish infantile epilepsy syndrome and cases described as salt & pepper syndrome. GM3 synthase deficiency is caused by a mutation in the ST3GAL5 gene and is inherited in an autosomal recessive manner. The ST3GAL5 gene tells the body to make an enzyme that supports gangliosides, which are molecules that are important for brain development and function. GM3 synthase deficiency is suspected when a child presents with symptoms characteristic of the disease. Genetic testing confirms the diagnosis. Treatment is focused on relieving symptoms of the disease, which may include nutritional and feeding support and medications to lessen the severity of seizures. Although there is no cure for the condition, children with GM3 synthase deficiency have lived into early adulthood.

OMIM® : 57 Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016). (609056) (Updated 20-May-2021)

KEGG : 36 Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme, has been identified.

UniProtKB/Swiss-Prot : 72 Salt and pepper developmental regression syndrome: A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities.

Related Diseases for Salt and Pepper Developmental Regression Syndrome

Diseases related to Salt and Pepper Developmental Regression Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 10.3
2 salt and pepper syndrome 10.3
3 alacrima, achalasia, and mental retardation syndrome 10.3
4 microcephaly 10.3
5 epilepsy 10.2
6 lysosomal storage disease 10.1
7 3-methylglutaconic aciduria, type iii 10.0
8 rett syndrome 10.0
9 branchiootic syndrome 1 10.0
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
11 cortical blindness 10.0
12 retinal degeneration 10.0
13 mitochondrial disorders 10.0
14 encephalopathy 10.0

Graphical network of the top 20 diseases related to Salt and Pepper Developmental Regression Syndrome:

Diseases related to Salt and Pepper Developmental Regression Syndrome

Symptoms & Phenotypes for Salt and Pepper Developmental Regression Syndrome

Human phenotypes related to Salt and Pepper Developmental Regression Syndrome:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 microcephaly 31 occasional (7.5%) HP:0000252
3 failure to thrive 31 HP:0001508
4 developmental regression 31 HP:0002376
5 global developmental delay 31 HP:0001263
6 optic atrophy 31 HP:0000648
7 feeding difficulties in infancy 31 HP:0008872
8 vomiting 31 HP:0002013
9 myoclonus 31 HP:0001336
10 absent speech 31 HP:0001344
11 irritability 31 HP:0000737
12 hypermelanotic macule 31 HP:0001034
13 status epilepticus 31 HP:0002133
14 choreoathetosis 31 HP:0001266
15 generalized hypotonia 31 HP:0001290
16 visual loss 31 HP:0000572
17 cerebral visual impairment 31 HP:0100704
18 multifocal epileptiform discharges 31 HP:0010841
19 lower limb hyperreflexia 31 HP:0002395
20 global brain atrophy 31 HP:0002283
21 hyporeflexia of upper limbs 31 HP:0012391
22 hypotonia 31 HP:0001252
23 bilateral tonic-clonic seizure 31 HP:0002069
24 developmental stagnation at onset of seizures 31 HP:0006834

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Head And Neck Eyes:
optic atrophy
loss of vision
cortical visual impairment
decreased eye contact
eye deviation

Neurologic Behavioral Psychiatric Manifestations:

Head And Neck Head:
microcephaly (in some patients)

Neurologic Peripheral Nervous System:
hyporeflexia in the upper limbs
hyperreflexia in the lower limbs

Neurologic Central Nervous System:
developmental regression
status epilepticus
developmental stagnation at onset of seizures
delayed psychomotor development
Abdomen Gastrointestinal:
poor feeding

Head And Neck Ears:
deafness (in some patients)

Skin Nails Hair Skin:
hyperpigmented 2 to 5-mm macules mainly on the extremities
de- or hypo-pigmented macules (less common)

Clinical features from OMIM®:

609056 (Updated 20-May-2021)

UMLS symptoms related to Salt and Pepper Developmental Regression Syndrome:

vomiting; unspecified visual loss

Drugs & Therapeutics for Salt and Pepper Developmental Regression Syndrome

Drugs for Salt and Pepper Developmental Regression Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 258)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Evolocumab Approved Phase 4 1256937-27-5
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Metronidazole Approved Phase 4 443-48-1 4173
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
Erenumab Approved, Investigational Phase 4 1582205-90-0
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
10 Anticholesteremic Agents Phase 4
11 Antimetabolites Phase 4
12 Hypolipidemic Agents Phase 4
13 Lipid Regulating Agents Phase 4
14 Hormones Phase 4
15 Calcium, Dietary Phase 4
16 Vasodilator Agents Phase 4
17 Antirheumatic Agents Phase 4
18 Anti-Inflammatory Agents, Non-Steroidal Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Fibrinolytic Agents Phase 4
21 Platelet Aggregation Inhibitors Phase 4
22 Cyclooxygenase Inhibitors Phase 4
23 Antipyretics Phase 4
24 Omega 3 Fatty Acid Phase 4
25 Anti-Bacterial Agents Phase 4
26 Gastrointestinal Agents Phase 4
27 Acidophilus Phase 4
28 Anti-Infective Agents Phase 4
29 Antiparasitic Agents Phase 4
30 Antacids Phase 4
31 Anti-Ulcer Agents Phase 4
32 Antiprotozoal Agents Phase 4
33 Bismuth tripotassium dicitrate Phase 4
34 Proton Pump Inhibitors Phase 4
35 Bifidobacterium Phase 4
Bismuth Phase 4 7440-69-9 16682734 105143
37 Analgesics Phase 4
38 Katacalcin Phase 4
39 calcitonin Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
Sodium citrate Approved, Investigational Phase 3 68-04-2
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
Atorvastatin Approved Phase 3 134523-00-5 60823
Aztreonam Approved Phase 3 78110-38-0 5362041 5742832
Adalimumab Approved, Experimental Phase 3 331731-18-1 16219006
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924

Interventional clinical trials:

(show top 50) (show all 325)
# Name Status NCT ID Phase Drugs
1 Tocilizumab Real-Life Human Factors Validation Study Completed NCT02682823 Phase 4 Tocilizumab
2 Do Aromatase Inhibitors (AIs) Decrease Intestinal Calcium Absorption? Completed NCT00766532 Phase 4 Aromatase Inhibitor
3 A Randomized Controlled Trial Comparing the Efficay and Tolerability of Ai Chi Versus Stretching in Fibromyalgia Management: a Six Months Study Completed NCT00600574 Phase 4
4 Pool-based Exercise in Fibromyalgia Management: a Prospective Randomized Comparison Between Stretching and Ai Chi Completed NCT00550641 Phase 4
5 A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in India Completed NCT03403374 Phase 4 evolocumab
6 A Study to Assess the Effect and Safety of Artificial Intelligence Assisted Insulin Titration System on Glucose Control in Type 2 Diabetes Mellitus Patients: A Single-center, Open-labeled, Parallel, Randomized Controlled Trial Completed NCT04053959 Phase 4 AI assisted insulin system;Physician based insulin regime
7 Project 1: Program on Genetic and Dietary Predictors of Drug Response in Rural and AI/AN Populations (Naproxen Study) Recruiting NCT04449471 Phase 4 Naproxen tablet
8 Biomarker and Genetic Predictors of Erenumab Treatment Response, a Phase 4 Investigational Open-label Study (INTERROGATE) Recruiting NCT04265755 Phase 4 Erenumab
9 Registry for Migraine - Structural and Functional Magnetic Resonance Imaging Before and After Erenumab Treatment Recruiting NCT04674020 Phase 4 Erenumab
10 Hypersensitivity to CGRP as a Predictive Biomarker of Migraine Prevention With Erenumab Recruiting NCT04592952 Phase 4 Calcitonin Gene-Related Peptide;Erenumab
11 Early-phase Schizophrenia: Practice-based Research to Improve Outcomes (ESPRITO) - Using Artificial Intelligence to Measure Adherence to Oral Medication Recruiting NCT04046497 Phase 4
12 Registry for Migraine - Clinical Core Recruiting NCT04603976 Phase 4 Erenumab
13 Program on Genetic and Dietary Predictors of Drug Response in Rural and AI/AN Populations, Project-3, SA-3, Anti-platelet Response Active, not recruiting NCT04456608 Phase 4 Aspirin
14 The Studies of Integrating Gastric and Gut Microbiota, F. Prausnitzii Metabolites, Microenvironment, and Epigenetics to Identify the Cancer Risk of H. Pylori-related Precancerous Conditions Through an AI System and Control the Risky by Probiotic Supplements Enrolling by invitation NCT04527055 Phase 4 Bismuth Subcitrate
15 Phase 4, Open-label Study to Evaluate Treatment Satisfaction With Erenumab in Patients With Migraine Not yet recruiting NCT04825678 Phase 4 Erenumab
16 Very High Power Ablation in Patients With Atrial Fibrillation Scheduled for a First Pulmonary Vein Isolation: the POWER-PLUS Study Not yet recruiting NCT04784013 Phase 4
17 A Clinical Trial to Determine the Efficacy of Five Years of Letrozole Compared to Placebo in Patients Completing Five Years of Hormonal Therapy Consisting of an Aromatase Inhibitor (AI) or Tamoxifen Followed by an AI in Prolonging Disease-Free Survival in Postmenopausal Women With Hormone Receptor Positive Breast Cancer Unknown status NCT00382070 Phase 3 Letrozole
18 Aromatase Inhibitors (AI) Plus Chemotherapy Versus Chemotherapy as Neoadjuvant Treatment in Postmenopausal Hormone Receptor-positive Breast Cancer Unknown status NCT02769104 Phase 3 Letrozole (Aromatase Inhibitors);AC*4-T*4
19 Preventing Stroke Triggers in Children With Sickle Cell Anaemia in Mulago Hospital, Kampala (PREST ): a Randomized Control Trial Unknown status NCT03666806 Phase 2, Phase 3
20 Multicenter Therapy-Optimization Trial AML-BFM 2004 for the Treatment of Acute Myeloid Leukemias in Children and Adolescents Unknown status NCT00111345 Phase 2, Phase 3 Anthracyclines;liposomal daunorubicin;2-CDA;AI
21 MAINtenance Afinitor: A Randomized Trial Comparing Maintenance Aromatase Inhibitors (AIs) + Everolimus (Afinitor) vs AIs in Hormone Receptor Positive (HR+) Metastatic Breast Cancer Patients With Disease Control After First Line Chemotherapy Completed NCT02511639 Phase 3 Everolimus;Aromatase Inhibitors
22 Comparative Clinical Study of Ultrasound-Guided A1 Pulley Release vs Open Surgical Intervention in the Treatment of Trigger Finger Completed NCT02830672 Phase 2, Phase 3
23 A Multicenter, Randomized, Open-label, Parallel-group Usability Study of the Commercial 1 mL Alirocumab Auto-injector Device (AI) and the New 2 mL Auto-injector Device (SYDNEY) in High or Very High Cardiovascular Risk Patients With Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy Completed NCT03415178 Phase 3 Alirocumab SAR236553;Atorvastatin;Rosuvastatin
24 A Phase 3, International, Exploratory, Open-Label, Multicenter, Dual-Injection, Echocardiographic Imaging Settings and Safety Study of AI-700 in Normal Volunteers and Stable Cardiac Patients Completed NCT00669851 Phase 3 AI-700
25 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
26 An Open-label Single-arm Multicenter Study to Evaluate Usability of a Subcutaneous (SC) Autoinjector (AI) for a Proposed Adalimumab Biosimilar (M923) in Subjects With Moderate to Severe Rheumatoid Arthritis (RA) Completed NCT02722044 Phase 3
27 IL1T-AI-0505: A Multi-center, Double-Blind, Placebo-Controlled Study of the Safety, Tolerability, & Efficacy of Rilonacept in Subjects With Cryopyrin-Associated Periodic Syndromes (CAPS) Using Parallel Group & Randomized Withdrawal Designs Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
28 A Phase 3, International, Multicenter, Open Label, Dual-Injection, Echocardiographic Imaging and Safety Study of AI-700 in Patients With Suspected Ischemic Heart Disease Undergoing Single-Photon Emission Computed Tomography (Real-Time Assessment of Myocardial Perfusion With Echocardiography: RAMP 1) Completed NCT00156793 Phase 3
29 A Study to Evaluate the Efficacy of Quadrivalent HPV Vaccine in Reducing the Incidence of HPV 6-, 11-, 16-, and 18-Related CIN, AIS, and Cervical Cancer, and HPV 6-, 11-, 16-, and 18-Related External Genital Warts, Vulvar Intraepithelial Neoplasia Vaginal Intraepithelial Neoplasia, Vulvar Cancer, and Vaginal Cancer in 16- to 23-Year-Old Women Completed NCT00092521 Phase 3
30 Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia Administered to Patients With High-Risk Sarcoma Receiving Intensive Chemotherapy (Adriamycin and Ifosfamide (AI)) Completed NCT00038311 Phase 3 PN-152,243)/PN-196,444
31 A Double-Blind, Controlled, Randomized, Phase III Study of the Efficacy of an HPV16/18 VLP Vaccine in the Prevention of Advanced Cervical Intraepithelial Neoplasia (CIN2, CIN3, Adenocarcinoma In Situ [AIS] and Invasive Cervical Cancer) Associated With HPV 16 or HPV 18 Cervical Infection in Healthy Young Adult Women in Costa Rica. Completed NCT00128661 Phase 3
32 A Randomized, Double Blind, Multicenter Study to Compare the Efficacy and Tolerability of Fulvestrant (FASLODEX™) vs. Exemestane (AROMASIN™) in Postmenopausal Women With Hormone Receptor Positive Advanced Breast Cancer With Disease Progression After Prior Non-Steroidal Aromatase Inhibitor (AI) Therapy Completed NCT00065325 Phase 3 Fulvestrant;Exemestane
33 A Phase 3, Open-label, Follow-On Study of Multiple Courses of Aztreonam Lysinate for Inhalation (AI) in Cystic Fibrosis Patients (AIR-CF3) Completed NCT00128492 Phase 3 AZLI 75 mg two times a day (BID)/ three times a day (TID)
34 A Randomized, Multicenter, Open-label, Parallel Group Study in Postmenopausal Women With Osteoporosis to Evaluate the Noninferiority of Subject-administered Romosozumab Via Autoinjector/Pen vs Healthcare Provider-administered Romosozumab Via Prefilled Syringe Completed NCT03432533 Phase 3 romosozumab HCP administration with PFS
35 Assessment of Multiple Intrauterine Gestations From Ovarian Stimulation Completed NCT01044862 Phase 3 Letrozole (aromatase inhibitor);Clomiphene Citrate;Follicle Stimulating Hormone (gonadotropin)
36 A Multicenter, Randomized Study in Subjects With Primary Hypercholesterolemia or Mixed Dyslipidemia to Assess Subjects' Ability to Administer a Full Dose of Evolocumab (AMG 145) in Home-use, Using Either a 3.5 mL Personal Injector or a Prefilled Autoinjector/Pen. Completed NCT01879319 Phase 3
37 A Multicenter, Randomized, Open-label, Parallel Group, Functionality, and Performance Study of an Accessorized Pre-filled Syringe and Autoinjector With Home-administered Subcutaneous Tezepelumab in Adolescent and Adult Subjects With Severe Asthma (PATH-HOME) Completed NCT03968978 Phase 3
38 A Multicenter, Randomized, Comparative Study Regarding the Efficacy of Denosumab on Normal Bone Mineral Density in Women Receiving Adjuvant Aromatase Inhibitors for Early Breast Cancer (ENDEAVOR Trial) Recruiting NCT03324932 Phase 3 Denosumab Injection
39 Randomized Trial of Neoadjuvant Endocrine Therapy Versus Chemotherapy in Premenopausal Patients With Estrogen Receptor-Positive HER2 Negative Breast Cancer Recruiting NCT02535221 Phase 3 Goserelin+TAM+AI;Epirubicin+CTX+5-Fu
40 A Single-arm, Prospective, Multicentre, Open-label Study to Evaluate Ofatumumab Treatment Effectiveness and Patient Reported Outcomes in Patients With Relapsing Multiple Sclerosis Transitioning From Dimethyl Fumarate or Fingolimod Therapy Recruiting NCT04353492 Phase 3
41 A Multi-centre Long-term Extension Study to Assess the Safety and Efficacy of GSK3196165 in the Treatment of Rheumatoid Arthritis Recruiting NCT04333147 Phase 3 csDMARD(s)
42 A Phase III Trial to Compare the Safety and Efficacy of Lapatinib Plus Trastuzumab Plus an Aromatase Inhibitor (AI) vs. Trastuzumab Plus an AI vs. Lapatinib Plus an AI as 1st- or 2nd- Line Therapy in Postmenopausal Subjects With Hormone Receptor+, HER2-positive Metastatic Breast Cancer (MBC) Who Received Prior Trastuzumab and Endocrine Therapies Active, not recruiting NCT01160211 Phase 3 lapatinib;trastuzumab;Aromatase inhibitor;lapatinib
43 A 52-Week, Phase 3, Randomized, Active Comparator and Placebo-Controlled, Parallel Design Study to Evaluate the Efficacy and Safety/Tolerability of Subcutaneous Tildrakizumab (SCH 900222/MK-3222), Followed by an Optional Long-Term Safety Extension Study, in Subjects With Moderate-to-Severe Chronic Plaque Psoriasis (Protocol No. MK-3222-011) Active, not recruiting NCT01729754 Phase 3 Tildrakizumab 200 mg;Tildrakizumab 100 mg;Tildrakizumab Placebo;Etanercept Placebo;Etanercept 50 mg
44 Trial of Perioperative Endocrine Therapy - Individualising Care Active, not recruiting NCT02338310 Phase 3 Aromatase Inhibitors
45 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Evaluate Safety and Efficacy of Evolocumab (AMG 145) in Addition to Optimal Stable Background Statin Therapy in Chinese Subjects With Primary Hypercholesterolemia and Mixed Dyslipidemia Terminated NCT03433755 Phase 3 Evolocumab 140 mg SC Q2W;Evolocumab 420 mg SC QM
46 A Phase III Randomized, Double Blind, Placebo Controlled Study of BKM120 With Fulvestrant, in Postmenopausal Women With Hormone Receptor-positive HER2-negative AI Treated, Locally Advanced or Metastatic Breast Cancer Who Progressed on or After mTOR Inhibitor Based Treatment Terminated NCT01633060 Phase 3 Fulvestrant;BKM120;BKM120 matching placebo
47 Clinical Study of Adjuvant Therapy on Post-menopausal Women With Breast Cancer Under the Guidance of the Results of Preoperative Endocrinotherapy Unknown status NCT01613560 Phase 2 AI adjuvant therapy;AI+chemotherapy adjuvant therapy;AI adjuvant therapy
48 A Phase II Study of the Efficacy and Tolerability of Bicalutamide Plus Aromatase Inhibitors in Estrogen Receptor(+)/Androgen Receptor(+)/HER2(-) Metastatic Breast Cancer Unknown status NCT02910050 Phase 2 Bicalutamide;Aromatase Inhibitor
49 Neoadjuvant Intratumoral Injection of Dendritic Cells in Breast Cancer Translation of Biotechnology Into the Clinic Completed NCT00499083 Phase 2 aromatase inhibition therapy;cyclophosphamide;doxorubicin hydrochloride;paclitaxel;tamoxifen citrate
50 Preventing Sexual Dysfunction in Women on Aromatase Inhibitors Completed NCT01603303 Phase 2

Search NIH Clinical Center for Salt and Pepper Developmental Regression Syndrome

Genetic Tests for Salt and Pepper Developmental Regression Syndrome

Genetic tests related to Salt and Pepper Developmental Regression Syndrome:

# Genetic test Affiliating Genes
1 Gm3 Synthase Deficiency 29 ST3GAL5

Anatomical Context for Salt and Pepper Developmental Regression Syndrome

MalaCards organs/tissues related to Salt and Pepper Developmental Regression Syndrome:

Skin, Breast, Brain, Spinal Cord, Eye, Bone, Prostate

Publications for Salt and Pepper Developmental Regression Syndrome

Articles related to Salt and Pepper Developmental Regression Syndrome:

(show all 18)
# Title Authors PMID Year
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. 61 6 57
27232954 2016
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. 61 57 6
22990144 2013
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. 61 6 57
23436467 2013
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. 57 6
24026681 2014
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. 6 57
15502825 2004
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. 61 57
30691927 2019
Early growth and development impairments in patients with ganglioside GM3 synthase deficiency. 6 61
26649472 2016
Etiology of vision loss in ganglioside GM3 synthase deficiency. 57 61
17050284 2006
Genomic diagnostics within a medically underserved population: efficacy and implications. 6
28726809 2018
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
GM3 (hematoside) sphingolipodystrophy. 57
4213132 1974
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies. 61
33714697 2021
Novel compound heterozygous mutations in ganglioside GM3 synthase deficiency. 61
32666775 2020
Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create the largest description of ST2GAL5 defi ciency to date. 61
30990255 2019
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency. 61
30209782 2019
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. 61
30185102 2018
Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS. 61
27251946 2016
Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. 61
25652401 2015

Variations for Salt and Pepper Developmental Regression Syndrome

ClinVar genetic disease variations for Salt and Pepper Developmental Regression Syndrome:

6 (show top 50) (show all 163)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ST3GAL5 NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser) SNV Pathogenic 254245 rs886037930 GRCh37: 2:86075062-86075062
GRCh38: 2:85847939-85847939
2 ST3GAL5 NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) SNV Pathogenic 5556 rs104893668 GRCh37: 2:86071665-86071665
GRCh38: 2:85844542-85844542
3 ST3GAL5 NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter) SNV Pathogenic 572904 rs778265926 GRCh37: 2:86090544-86090544
GRCh38: 2:85863421-85863421
4 ST3GAL5 NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) Deletion Pathogenic 577410 rs754643632 GRCh37: 2:86075293-86075293
GRCh38: 2:85848170-85848170
5 ST3GAL5 NM_003896.4(ST3GAL5):c.369_381delinsTG (p.Lys123fs) Indel Pathogenic 533027 rs1553405470 GRCh37: 2:86075265-86075277
GRCh38: 2:85848142-85848154
6 ST3GAL5 NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) SNV Pathogenic 828145 rs367638648 GRCh37: 2:86067500-86067500
GRCh38: 2:85840377-85840377
7 ST3GAL5 NM_003896.4(ST3GAL5):c.318+1del Deletion Pathogenic 969192 GRCh37: 2:86088303-86088303
GRCh38: 2:85861180-85861180
8 ST3GAL5 NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter) SNV Pathogenic 1028169 GRCh37: 2:86071527-86071527
GRCh38: 2:85844404-85844404
9 ST3GAL5 NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) Deletion Pathogenic 856273 GRCh37: 2:86090567-86090567
GRCh38: 2:85863444-85863444
10 ST3GAL5 NM_003896.4(ST3GAL5):c.79C>T (p.Arg27Ter) SNV Pathogenic 959131 GRCh37: 2:86115950-86115950
GRCh38: 2:85888827-85888827
11 ST3GAL5 NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) SNV Likely pathogenic 666332 rs1573589807 GRCh37: 2:86073609-86073609
GRCh38: 2:85846486-85846486
12 ST3GAL5 NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) SNV Likely pathogenic 254246 rs771732955 GRCh37: 2:86075045-86075045
GRCh38: 2:85847922-85847922
13 ST3GAL5 NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val) SNV Conflicting interpretations of pathogenicity 695779 rs140019292 GRCh37: 2:86075257-86075257
GRCh38: 2:85848134-85848134
14 ST3GAL5 NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=) SNV Conflicting interpretations of pathogenicity 464398 rs144270260 GRCh37: 2:86075256-86075256
GRCh38: 2:85848133-85848133
15 ST3GAL5 NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=) SNV Conflicting interpretations of pathogenicity 282731 rs199590656 GRCh37: 2:86075181-86075181
GRCh38: 2:85848058-85848058
16 ST3GAL5 NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) SNV Conflicting interpretations of pathogenicity 198499 rs148195895 GRCh37: 2:86067312-86067312
GRCh38: 2:85840189-85840189
17 ST3GAL5 NM_003896.4(ST3GAL5):c.82+1G>C SNV Conflicting interpretations of pathogenicity 239583 rs878854615 GRCh37: 2:86115946-86115946
GRCh38: 2:85888823-85888823
18 ST3GAL5 NM_003896.4(ST3GAL5):c.561G>C (p.Leu187Phe) SNV Uncertain significance 959457 GRCh37: 2:86075085-86075085
GRCh38: 2:85847962-85847962
19 ST3GAL5 NM_003896.4(ST3GAL5):c.34C>T (p.Arg12Cys) SNV Uncertain significance 962667 GRCh37: 2:86115995-86115995
GRCh38: 2:85888872-85888872
20 ST3GAL5 NM_003896.4(ST3GAL5):c.923T>C (p.Ile308Thr) SNV Uncertain significance 963160 GRCh37: 2:86071604-86071604
GRCh38: 2:85844481-85844481
21 ST3GAL5 NM_003896.4(ST3GAL5):c.1012G>A (p.Val338Ile) SNV Uncertain significance 967896 GRCh37: 2:86067512-86067512
GRCh38: 2:85840389-85840389
22 ST3GAL5 NM_003896.4(ST3GAL5):c.831G>A (p.Met277Ile) SNV Uncertain significance 566048 rs751569436 GRCh37: 2:86073518-86073518
GRCh38: 2:85846395-85846395
23 ST3GAL5 NM_003896.4(ST3GAL5):c.762A>C (p.Glu254Asp) SNV Uncertain significance 568598 rs1191405507 GRCh37: 2:86073587-86073587
GRCh38: 2:85846464-85846464
24 ST3GAL5 NM_003896.4(ST3GAL5):c.*432G>A SNV Uncertain significance 895312 GRCh37: 2:86066835-86066835
GRCh38: 2:85839712-85839712
25 ST3GAL5 NM_003896.4(ST3GAL5):c.*412C>T SNV Uncertain significance 895313 GRCh37: 2:86066855-86066855
GRCh38: 2:85839732-85839732
26 ST3GAL5 NM_003896.4(ST3GAL5):c.119G>T (p.Ser40Ile) SNV Uncertain significance 895393 GRCh37: 2:86090572-86090572
GRCh38: 2:85863449-85863449
27 ST3GAL5 NM_003896.4(ST3GAL5):c.20G>A (p.Gly7Asp) SNV Uncertain significance 895394 GRCh37: 2:86116009-86116009
GRCh38: 2:85888886-85888886
28 ST3GAL5 NM_003896.4(ST3GAL5):c.-43G>T SNV Uncertain significance 895395 GRCh37: 2:86116071-86116071
GRCh38: 2:85888948-85888948
29 ST3GAL5 NM_003896.4(ST3GAL5):c.*344C>T SNV Uncertain significance 896733 GRCh37: 2:86066923-86066923
GRCh38: 2:85839800-85839800
30 ST3GAL5 NM_003896.4(ST3GAL5):c.*260G>A SNV Uncertain significance 896734 GRCh37: 2:86067007-86067007
GRCh38: 2:85839884-85839884
31 ST3GAL5 NM_003896.4(ST3GAL5):c.*147C>T SNV Uncertain significance 896735 GRCh37: 2:86067120-86067120
GRCh38: 2:85839997-85839997
32 ST3GAL5 NM_001363847.1(ST3GAL5):c.-95G>T SNV Uncertain significance 896793 GRCh37: 2:86116123-86116123
GRCh38: 2:85889000-85889000
33 ST3GAL5 NM_001363847.1(ST3GAL5):c.-99G>A SNV Uncertain significance 896794 GRCh37: 2:86116127-86116127
GRCh38: 2:85889004-85889004
34 ST3GAL5 NM_001363847.1(ST3GAL5):c.-103G>C SNV Uncertain significance 896795 GRCh37: 2:86116131-86116131
GRCh38: 2:85889008-85889008
35 ST3GAL5 NM_003896.4(ST3GAL5):c.973T>G (p.Ser325Ala) SNV Uncertain significance 897206 GRCh37: 2:86071554-86071554
GRCh38: 2:85844431-85844431
36 ST3GAL5 NM_003896.4(ST3GAL5):c.*1001G>A SNV Uncertain significance 898299 GRCh37: 2:86066266-86066266
GRCh38: 2:85839143-85839143
37 ST3GAL5 NM_003896.4(ST3GAL5):c.*756G>A SNV Uncertain significance 898300 GRCh37: 2:86066511-86066511
GRCh38: 2:85839388-85839388
38 ST3GAL5 NM_003896.4(ST3GAL5):c.*649C>T SNV Uncertain significance 898301 GRCh37: 2:86066618-86066618
GRCh38: 2:85839495-85839495
39 ST3GAL5 NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=) SNV Uncertain significance 718171 rs534535305 GRCh37: 2:86071675-86071675
GRCh38: 2:85844552-85844552
40 ST3GAL5 NM_003896.4(ST3GAL5):c.849+15T>G SNV Uncertain significance 898380 GRCh37: 2:86073485-86073485
GRCh38: 2:85846362-85846362
41 ST3GAL5 NM_003896.4(ST3GAL5):c.580C>T (p.Arg194Cys) SNV Uncertain significance 898381 GRCh37: 2:86075066-86075066
GRCh38: 2:85847943-85847943
42 ST3GAL5 NM_003896.4(ST3GAL5):c.418G>A (p.Asp140Asn) SNV Uncertain significance 934169 GRCh37: 2:86075228-86075228
GRCh38: 2:85848105-85848105
43 ST3GAL5 NM_003896.4(ST3GAL5):c.16G>A (p.Ala6Thr) SNV Uncertain significance 934533 GRCh37: 2:86116013-86116013
GRCh38: 2:85888890-85888890
44 ST3GAL5 NM_003896.4(ST3GAL5):c.296A>G (p.Tyr99Cys) SNV Uncertain significance 936507 GRCh37: 2:86088326-86088326
GRCh38: 2:85861203-85861203
45 ST3GAL5 NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe) SNV Uncertain significance 626023 rs146955794 GRCh37: 2:86088375-86088375
GRCh38: 2:85861252-85861252
46 ST3GAL5 NM_003896.4(ST3GAL5):c.746C>T (p.Pro249Leu) SNV Uncertain significance 939924 GRCh37: 2:86073603-86073603
GRCh38: 2:85846480-85846480
47 ST3GAL5 NM_003896.4(ST3GAL5):c.211A>G (p.Thr71Ala) SNV Uncertain significance 940208 GRCh37: 2:86088411-86088411
GRCh38: 2:85861288-85861288
48 ST3GAL5 NM_003896.4(ST3GAL5):c.738G>C (p.Glu246Asp) SNV Uncertain significance 197757 rs755264272 GRCh37: 2:86073611-86073611
GRCh38: 2:85846488-85846488
49 ST3GAL5 NM_003896.4(ST3GAL5):c.311A>T (p.His104Leu) SNV Uncertain significance 947884 GRCh37: 2:86088311-86088311
GRCh38: 2:85861188-85861188
50 ST3GAL5 NM_003896.4(ST3GAL5):c.287_289del (p.Lys96del) Deletion Uncertain significance 949035 GRCh37: 2:86088333-86088335
GRCh38: 2:85861210-85861212

Expression for Salt and Pepper Developmental Regression Syndrome

Search GEO for disease gene expression data for Salt and Pepper Developmental Regression Syndrome.

Pathways for Salt and Pepper Developmental Regression Syndrome

Pathways related to Salt and Pepper Developmental Regression Syndrome according to KEGG:

# Name Kegg Source Accession
1 Glycosphingolipid biosynthesis - ganglio series hsa00604

GO Terms for Salt and Pepper Developmental Regression Syndrome

Sources for Salt and Pepper Developmental Regression Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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