RIDL
MCID: RDD003
MIFTS: 58

Riddle Syndrome (RIDL)

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Riddle Syndrome

MalaCards integrated aliases for Riddle Syndrome:

Name: Riddle Syndrome 57 12 58 72 36 29 13 6 44 15 39 17 70
Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome 12 58
Rnf168 Deficiency 12 58
Ridl 57 72
Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, and Learning Difficulties 57
Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties 72
Primary Immunodeficiency Diseases 44

Characteristics:

Orphanet epidemiological data:

58
riddle syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Infancy; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood


HPO:

31
riddle syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare immunological diseases


Summaries for Riddle Syndrome

KEGG : 36 RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying genetic cause of this syndrome is defective RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also present with nonimmunological characteristics including short stature and motor control problems.

MalaCards based summary : Riddle Syndrome, also known as radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, is related to nijmegen breakage syndrome and ataxia-telangiectasia, and has symptoms including ataxia and dry skin. An important gene associated with Riddle Syndrome is RNF168 (Ring Finger Protein 168), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. The drugs Pharmaceutical Solutions and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and bone, and related phenotypes are short stature and immunodeficiency

Disease Ontology : 12 A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has material basis in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.

OMIM® : 57 RIDDLE is an acronym for the major features of this syndrome: radiosensitivity, immunodeficiency, dysmorphic facies, and learning difficulties (Stewart et al., 2007). (611943) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Riddle syndrome: An autosomal recessive disorder characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature.

Wikipedia : 73 RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity,... more...

Related Diseases for Riddle Syndrome

Diseases related to Riddle Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 29.4 MDC1 H2AX H2AC18 BRCA1
2 ataxia-telangiectasia 29.4 TP53BP1 MDC1 H2AX BRCA1
3 fanconi anemia, complementation group a 26.8 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
4 severe combined immunodeficiency 10.7
5 common variable immunodeficiency 10.6
6 agammaglobulinemia 10.5
7 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
8 wiskott-aldrich syndrome 10.5
9 chronic granulomatous disease 10.5
10 agammaglobulinemia, x-linked 10.5
11 bacterial infectious disease 10.4
12 immunoglobulin alpha deficiency 10.4
13 digeorge syndrome 10.3
14 candidiasis 10.3
15 graft-versus-host disease 10.2
16 ovarian carcinosarcoma 10.2 H2AC18 BRCA1
17 severe combined immunodeficiency, x-linked 10.2
18 cd40 ligand deficiency 10.2
19 polyendocrinopathy 10.2
20 hyperinsulinemic hypoglycemia, familial, 3 10.2 H2AC20 H2AC18
21 transvestism 10.2 H2AC20 H2AC18
22 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.2
23 immunodeficiency with hyper-igm, type 1 10.2
24 autoimmune lymphoproliferative syndrome 10.2
25 hyper ige syndrome 10.2
26 neutropenia 10.2
27 adenosine deaminase deficiency 10.2
28 lymphopenia 10.2
29 epilepsy, idiopathic generalized 2 10.2 H2AC20 H2AC18
30 chediak-higashi syndrome 10.1
31 hemophagocytic lymphohistiocytosis, familial, 1 10.1
32 disease by infectious agent 10.1
33 hemophagocytic lymphohistiocytosis 10.1
34 severe congenital neutropenia 10.1
35 lymphoproliferative syndrome 10.1
36 griscelli syndrome 10.1
37 acute graft versus host disease 10.1
38 non-severe combined immunodeficiency 10.1
39 peritoneum cancer 10.1 H2AC18 BRCA1
40 legionnaire disease 10.1
41 leukocyte adhesion deficiency, type i 10.1
42 ige responsiveness, atopic 10.1
43 tumor predisposition syndrome 10.1
44 cutaneous telangiectasia and cancer syndrome, familial 10.1
45 immunodeficiency, common variable, 8, with autoimmunity 10.1
46 t cell deficiency 10.1
47 diarrhea 10.1
48 chronic mucocutaneous candidiasis 10.1
49 dermatitis 10.1
50 inherited cancer-predisposing syndrome 10.1

Graphical network of the top 20 diseases related to Riddle Syndrome:



Diseases related to Riddle Syndrome

Symptoms & Phenotypes for Riddle Syndrome

Human phenotypes related to Riddle Syndrome:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
3 elevated alpha-fetoprotein 58 31 hallmark (90%) Very frequent (99-80%) HP:0006254
4 decreased circulating iga level 58 31 hallmark (90%) Very frequent (99-80%) HP:0002720
5 decreased circulating igg level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004315
6 chromosomal breakage induced by ionizing radiation 58 31 hallmark (90%) Very frequent (99-80%) HP:0010997
7 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
8 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
9 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
10 recurrent fever 58 31 frequent (33%) Frequent (79-30%) HP:0001954
11 bronchitis 58 31 frequent (33%) Frequent (79-30%) HP:0012387
12 recurrent sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011108
13 chronic sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011109
14 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
15 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
16 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
17 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
18 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
19 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
20 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
21 conjunctival telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000524
22 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
23 otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000388
24 erythema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010783
25 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
26 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
27 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
28 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
29 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
30 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
31 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
32 demyelinating peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007108
33 decreased circulating total igm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002850
34 generalized lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008940
35 recurrent viral infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0004429
36 scaling skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0040189
37 neonatal asphyxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012768
38 enuresis nocturna 58 31 occasional (7.5%) Occasional (29-5%) HP:0010677
39 poor hand-eye coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007057
40 intraventricular hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0030746
41 dry skin 31 HP:0000958
42 mild global developmental delay 31 HP:0011342
43 pneumonia 58 Frequent (79-30%)
44 interstitial pulmonary abnormality 58 Occasional (29-5%)
45 telangiectasia 58 Occasional (29-5%)
46 increased sensitivity to ionizing radiation 31 HP:0011133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
ataxia
learning difficulties (in 1 patient)
impaired motor control, mild

Immunology:
immunodeficiency
variably decreased serum iga, igg, and igm

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Eyes:
ocular telangiectasia

Growth Height:
short stature

Skin Nails Hair Skin:
dry skin

Laboratory Abnormalities:
increased alpha-fetoprotein
cells show increased sensitivity to ionizing radiation
defect in double-stranded dna repair

Respiratory:
progressive pulmonary failure (1 patient)
interstitial pneumonia (1 patient)
pulmonary fibrosis (1 patient)
bronchial telangiectasia (1 patient)

Clinical features from OMIM®:

611943 (Updated 05-Apr-2021)

UMLS symptoms related to Riddle Syndrome:


ataxia; dry skin

GenomeRNAi Phenotypes related to Riddle Syndrome according to GeneCards Suite gene sharing:

26 (show top 50) (show all 67)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.86 H2AC18 H2AC20
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.86 H2AC11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.86 BRCC3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 10.86 BRCC3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.86 H2AC18 H2AC20 H2AC13
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.86 H2AC18 H2AC20 H2AC13
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.86 H2AC18 H2AC20
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.86 H2AC20
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 10.86 H2AC12
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.86 H2AC11 H2AC12
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.86 H2AC18 H2AC20
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.86 H2AC11
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.86 MDC1 H2AX
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.86 H2AC11 H2AC12 H2AC18 H2AC20
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.86 H2AC12 H2AC18 H2AC20 H2AX
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 10.86 H2AC13
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.86 MDC1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.86 H2AC13
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.86 H2AC12
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.86 H2AC13 H2AX
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 10.86 BRCC3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.84 TP53BP1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.84 MDC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.84 ERCC6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.84 H2AC20
26 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.84 ERCC6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.84 RNF168
28 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.84 ERCC6
29 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.84 MDC1 BRCA1 ERCC6
30 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.84 BRCA1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.84 ERCC6 H2AX
32 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.84 MDC1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.84 H2AC20
34 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.84 ERCC6
35 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.84 ERCC6
36 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.84 TP53BP1 BRCA1 RNF168
37 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.84 H2AC20
38 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.84 H2AC12
39 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.84 TP53BP1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.84 ERCC6
41 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.84 BRCA1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.84 RNF168
43 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.84 UIMC1 ERCC6
44 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.84 ERCC6
45 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.84 UIMC1 BRCA1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.84 TP53BP1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.84 TP53BP1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.84 ERCC6
49 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.84 MDC1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.84 UIMC1

MGI Mouse Phenotypes related to Riddle Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 BRCA1 ERCC6 H2AX RNF168 RNF8 TP53BP1

Drugs & Therapeutics for Riddle Syndrome

Drugs for Riddle Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 Immunologic Factors Phase 3
3 gamma-Globulins Phase 3
4 Rho(D) Immune Globulin Phase 3
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
Treosulfan Approved, Investigational Phase 2 299-75-2 9296
10
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643 439492
11
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
12
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
13
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
14
Mycophenolic acid Approved Phase 2 24280-93-1 446541
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
17 Antineoplastic Agents, Immunological Phase 2
18 Folic Acid Antagonists Phase 2
19 Vitamin B9 Phase 2
20 Antibiotics, Antitubercular Phase 2
21 Alkylating Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Antirheumatic Agents Phase 2
24 Immunosuppressive Agents Phase 2
25 Thymoglobulin Phase 2
26 Anti-Bacterial Agents Phase 2
27 Cyclosporins Phase 2
28 Vitamin B Complex Phase 2
29 Antitubercular Agents Phase 2
30 Antilymphocyte Serum Phase 2
31 Antimetabolites Phase 2
32 Calcineurin Inhibitors Phase 2
33 Dermatologic Agents Phase 2
34 Folate Phase 2
35 Antifungal Agents Phase 2
36 Immunoglobulin G
37 Immunoglobulins
38 Immunoglobulins, Intravenous
39 Antibodies

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Post-Authorization Safety, Tolerability and Immunogenicity Evaluation of HyQvia in Pediatric Subjects With Primary Immunodeficiency Diseases Completed NCT03116347 Phase 4
2 Evaluation of the Efficacy and Safety of Flebogamma 5% DIF [Immune Globulin Intravenous (Human)] for Replacement Therapy in Pediatric Subjects With Primary Immunodeficiency Diseases. Completed NCT00634569 Phase 4
3 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
4 Safety, Tolerability, Patient Satisfaction and Cost of 16.5% Subcutaneous Immunoglobulin (Cutaquig®) Treatment in Patients Who Did Not Tolerate Other 20% Subcutaneous Immunoglobulin Product(s) Recruiting NCT03677557 Phase 4 16,5% Cutaquig
5 Title for SCGAM-03: CLINICAL PHASE III STUDY TO MONITOR THE SAFETY, TOLERABILITY AND EFFICACY OF SUBCUTANEOUS HUMAN IMMUNOGLOBULIN (OCTANORM) IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES WHO HAVE COMPLETED THE SCGAM-01 TRIAL Title for SCGAM-03 in Canada: CLINICAL PHASE III STUDY TO MONITOR THE SAFETY, TOLERABILITY AND EFFICACY OF SUBCUTANEOUS HUMAN IMMUNOGLOBULIN (OCTANORM) IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES, INCLUDING (BUT NOT LIMITED TO) THOSE WHO HAVE COMPLETED THE SCGAM-01 TRIAL Completed NCT03907241 Phase 3 Octanorm 16.5%
6 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
7 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
8 An Open Study to Evaluate the Safety and Efficacy of IVIG-F10 in Patients With Primary Immunodeficiency Diseases (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
9 An Open Label, Multicenter, Study to Evaluate the Pharmacokinetics, Efficacy and Safety of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01814800 Phase 3
10 A Clinical Study of Immune Globulin Subcutaneous (Human), 20% Solution (IGSC, 20%) for the Evaluation of Efficacy, Safety, Tolerability and Pharmacokinetics in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01218438 Phase 2, Phase 3 Immune Globulin Subcutaneous (Human), 20% Solution
11 Long-Term Tolerability and Safety of Immune Globulin Subcutaneous (IGSC) Solution Administered Subcutaneously Following Administration of Recombinant Human Hyaluronidase (rHuPH20) in Subjects With Primary Immunodeficiency Diseases Completed NCT01175213 Phase 3
12 Clinical Phase 3 Study to Evaluate the Efficacy, Tolerability and Safety of Subcutaneous Human Immunoglobulin (Octanorm) in Patients With Primary Immunodeficiency Diseases. Completed NCT03988426 Phase 3
13 Clinical Phase III Study to Evaluate the Pharmacokinetics, Efficacy, Tolerability and Safety of Subcutaneous Human Immunoglobulin (Octanorm 16.5%) In Patients With Primary Immunodeficiency Diseases Completed NCT01888484 Phase 3
14 Phase II/III Study of Allogeneic Hematopoietic Stem Cell Transplantation From Unrelated and Haploidentical Donors After TCR Alfa Beta Negative Selection in Pediatric Patients With Primary Immunodeficiency Diseases Completed NCT02327351 Phase 2, Phase 3
15 A Phase 3, Multicenter, Open-Label Study of the Safety, Tolerability, Efficacy, and PK of ProMetic BioTherapeutics IGIV (Human) 10% in Adults and Children With Primary Immunodeficiency Diseases Completed NCT02269163 Phase 3
16 Tolerability, Safety and Administration Mode Evaluation of Recombinant Human Hyaluronidase (rHuPH20) Facilitated Subcutaneous Treatment With Immune Globulin Infusion (Human), 10% in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01485796 Phase 2, Phase 3
17 Clinical Study to Evaluate the Safety and Tolerability of Immunoglobulin Intravenous (Human) 10% (NewGam) Administered at High Infusion Rates to Patients With Primary Immunodeficiency Diseases (Extension of Study NGAM-01) Completed NCT01313507 Phase 3
18 A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
19 A Clinical Study of Immune Globulin Subcutaneous (Human) (IGSC), 20% for the Evaluation of Efficacy, Safety, and Pharmacokinetics in Subjects With Primary Immunodeficiency Diseases Completed NCT01412385 Phase 2, Phase 3
20 Clinical Study to Evaluate the Efficacy, Pharmacokinetics and Safety of Immunoglobulin Intravenous (Human) 10% (NewGam) in Patients With Primary Immunodeficiency Diseases Completed NCT01012323 Phase 3
21 Efficacy, Tolerability and Pharmacokinetic Comparison of Immune Globulin Intravenous (Human), 10% (GAMMAGARD LIQUID/KIOVIG) Administered Intravenously or Subcutaneously Following Administration of Recombinant Human Hyaluronidase (rHuPH20) in Subjects With Primary Immunodeficiency Diseases Completed NCT00814320 Phase 3
22 Tolerability and Pharmacokinetic Comparison of Immune Globulin Intravenous (Human) 10% (IGIV, 10%) Administered Intravenously or Subcutaneously in Subjects With Primary Immunodeficiency Diseases Completed NCT00546871 Phase 2, Phase 3 Immune Globulin Intravenous (Human), 10%
23 A Clinical Investigation to Assess the Safety and Efficacy of Immune Globulin Intravenous (Human), 10% in Subjects With Primary Immunodeficiency Disorders Completed NCT00157079 Phase 3
24 An Open-label, Prospective, Multicenter Study Investigating Clinical Efficacy, Safety, and Pharmacokinetic Properties of the Human Normal Immunoglobulin for Intravenous Administration BT595 as Replacement Therapy in Patients With Primary Immunodeficiency Disease (PID) Completed NCT02810444 Phase 3
25 Clinical Phase 3 Study to Monitor the Safety, Tolerability, and Efficacy of Subcutaneous Human Immunoglobulin (CUTAQUIG®) Administered at Modified Dosing Regimens in Patients With Primary Immunodeficiency Diseases Recruiting NCT03939533 Phase 3 CUTAQUIG
26 A Phase 3, Open-label, Non-controlled, Multi-dose Study to Evaluate the Pharmacokinetics, Safety and Tolerability, and Efficacy of Immune Globulin Subcutaneous (Human), 20% Solution (IGSC, 20%) in Japanese Subjects With Primary Immunodeficiency Diseases (PID) Recruiting NCT04346108 Phase 3
27 Efficacy, Safety, Tolerability, Immunogenicity and Pharmacokinetic Evaluation of HYQVIA in Pediatric Subjects With Primary Immunodeficiency Diseases Active, not recruiting NCT03277313 Phase 3
28 A Phase III, Open-label, Prospective, Multicenter Study to Assess Efficacy, Safety and Pharmacokinetics of Kedrion Intravenous Immunoglobulin (IVIg) 10% in Primary Immunodeficiency Disease (PID) Patients Active, not recruiting NCT03961009 Phase 3
29 Prospective, Open-label, Single-arm, Multicentre Phase 3 Study to Evaluate the Pharmacokinetics, Efficacy, Tolerability, and Safety of Subcutaneous Human Immunoglobulin (Newnorm) in Patients With Primary Immunodeficiency Diseases Not yet recruiting NCT04640142 Phase 3
30 Clinical Study to Evaluate the Efficacy, Safety and Kinetics of Octagam 10% for Replacement Therapy in Primary Immunodeficiency Diseases Terminated NCT00811174 Phase 3 Octagam 10%
31 Prospective Open-Label Study of Pharmacokinetics, Efficacy and Safety of Immune Globulin Intravenous (Human), 10% TVR Solution in Patients With Hypo- or Agammaglobulinemia Completed NCT00161993 Phase 2 Immune Globulin Intravenous (Human), 10% TVR (Triple Virally Reduced) Solution;Gammagard S/D (Solvent/Detergent)
32 Phase 1/2 Determination of the Dose of Recominant Human Hyaluronidase (rHuPH20) Required Enabling Up to 600 mg/kg Bodyweight of IGIV, 10% to be Administered Subcutaneously in a Single Infusion Site in Subjects With Primary Immunodeficiency (PID) Completed NCT00782106 Phase 1, Phase 2
33 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immunodeficiency Diseases Recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
34 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Active, not recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
35 Post Transplant CD34+ Selected Stem Cell Infusion to Augment Graft Function in Children With Primary Immunodeficiency Diseases and Bone Marrow Failure Syndromes Terminated NCT01856582 Phase 2
36 Clinical and Laboratory Online Patient- and Research Database for Primary Immunodeficiencies in Switzerland Unknown status NCT01150240
37 Real-world CANadian CUvitru Non-Interventional Study in Subjects Transitioning From Subcutaneous Immunoglobulin (CANCUN) Completed NCT03716700
38 Monitoring of 5% Treatment Naïve Intravenous Immunoglobulin (IVIg) Primary Immunodeficiency Disease (PIDD) Patients Using the CareExchange® System: A Pilot Study Using 5% Gammaplex® IVIg in the Home Setting Completed NCT02176239
39 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689
40 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Active, not recruiting NCT00006319
41 Non-Interventional Post-Marketing Safety Study on the Long-Term Safety of HYQVIA (Global) Active, not recruiting NCT02593188
42 A Multicenter, Non-interventional, Observational, Prospective Study to Assess Hypotension in Patients With Primary Immunodeficiency Disease Treated With Bivigam™ (Human 10%) or Other Commercial Human 10% Immune Globulin (Intravenous) (IGIV) Products During Infusion and up to 72 Hours Post Infusion Active, not recruiting NCT03037359
43 Clinical Characteristics and Prognosis of Primary Immunodeficiency Disease (PID) in Chinese Children Not yet recruiting NCT03252548
44 Gamma Globulin Observations and Outcomes Database for Specific Home Infusion Evidence, Patient Care And Research Data in Patients With Primary Immunodeficiency Disease (GOOD-SHEPARD-PI) Terminated NCT01883921

Search NIH Clinical Center for Riddle Syndrome

Cochrane evidence based reviews: primary immunodeficiency diseases

Genetic Tests for Riddle Syndrome

Genetic tests related to Riddle Syndrome:

# Genetic test Affiliating Genes
1 Riddle Syndrome 29 RNF168

Anatomical Context for Riddle Syndrome

MalaCards organs/tissues related to Riddle Syndrome:

40
Eye, Bone Marrow, Bone, Kidney, Breast

Publications for Riddle Syndrome

Articles related to Riddle Syndrome:

(show top 50) (show all 106)
# Title Authors PMID Year
1
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. 61 57 6
19203578 2009
2
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. 6 57
21394101 2011
3
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. 57 61
17940005 2007
4
Establishment of reference intervals of clinical chemistry analytes for the adult population in Egypt. 61
33740794 2021
5
Molecular evidence of the hybrid origin of Cryptocoryne ×purpurea Ridl. nothovar. purpurea (Araceae). 61
33476321 2021
6
Sources of variation and establishment of Russian reference intervals for major hormones and tumor markers. 61
33411740 2021
7
A patent review on strategies for biological control of mosquito vector. 61
33230723 2020
8
Chemical composition and anticholinesterase inhibitory activity of Pavetta graciliflora Wall. ex Ridl. essential oil. 61
32469335 2020
9
Cytotoxicity and nitric oxide inhibitory activities of Xanthones isolated from Calophyllum hosei Ridl. 61
32901512 2020
10
Establishing reference intervals for major biochemical analytes for the Russian population: a research conducted as a part of the IFCC global study on reference values. 61
32278594 2020
11
Genetic control of Plutella xylostella in omics era. 61
31538676 2019
12
Full blood count and white cell differential count reference ranges obtained from a healthy urban South African population residing in the Western Cape of South Africa. 61
31271501 2019
13
Radiation-damage investigation of a DNA 16-mer. 61
31274421 2019
14
Molecular Insight and Mode of Inhibition of α-Glucosidase and α-Amylase by Pahangensin A from Alpinia pahangensis Ridl. 61
30957403 2019
15
Ancient exapted transposable elements promote nuclear enrichment of human long noncoding RNAs. 61
30587508 2019
16
Three New 2-(2-Phenylethyl)chromone Derivatives of Agarwood Originated from Gyrinops salicifolia. 61
30736275 2019
17
Mitrephoramonocarpa (Annonaceae): a new species from Surat Thani Province, Peninsular Thailand. 61
31130811 2019
18
Senyumiagranitica (Gesneriaceae) from Johor, Malaysia, the second species of Senyumia. 61
30774505 2019
19
[The use of transgenic mosquitoes for prevention of spread of arboviral diseases.] 61
31622055 2019
20
Indirect methods for reference interval determination - review and recommendations. 61
29672266 2018
21
Reference intervals for 33 biochemical analytes in healthy Indian population: C-RIDL IFCC initiative. 61
30074895 2018
22
Emerging Role of Retromer in Modulating Pathogen Growth. 61
29703496 2018
23
Distinguishing reference intervals and clinical decision limits - A review by the IFCC Committee on Reference Intervals and Decision Limits. 61
30047297 2018
24
Mesucalophylloidin, a new isoprenylated 4-phenylcoumarin from Mesua calophylloides (Ridl.) Kosterm. 61
28950715 2018
25
Mechanism of inhibition of retromer transport by the bacterial effector RidL. 61
29386389 2018
26
Mechanisms of Invasion Resistance of Aquatic Plant Communities. 61
29479363 2018
27
Invasive Aquatic Plants as Ecosystem Engineers in an Oligo-Mesotrophic Shallow Lake. 61
30559756 2018
28
Dengue vector control in Malaysia: Are we moving in the right direction? 61
33592944 2017
29
Molecular mechanism for the subversion of the retromer coat by the Legionella effector RidL. 61
29229824 2017
30
Comparison of equations for estimating glomerular filtration rate in screening for chronic kidney disease in asymptomatic black Africans: a cross sectional study. 61
29262800 2017
31
Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5. 61
29146912 2017
32
From common to rare Zingiberaceae plants - A metabolomics study using GC-MS. 61
28499256 2017
33
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. 61
28432740 2017
34
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. 61
28386063 2017
35
An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168. 61
27903633 2017
36
Aedes aegypti Control Through Modernized, Integrated Vector Management. 61
28286698 2017
37
Effects of the Aqueous Extract from Tabebuia roseoalba and Phenolic Acids on Hyperuricemia and Inflammation. 61
29375639 2017
38
Formation of the Legionella Replicative Compartment at the Crossroads of Retrograde Trafficking. 61
29226112 2017
39
Resistance to genetic insect control: Modelling the effects of space. 61
27816677 2017
40
Genetically Modified Aedes aegypti to Control Dengue: A Review. 61
29283327 2017
41
Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings. 61
29255463 2017
42
Artificial Diets for Mosquitoes. 61
28009851 2016
43
The queenslandensis and the type Form of the Dengue Fever Mosquito (Aedes aegypti L.) Are Genomically Indistinguishable. 61
27806047 2016
44
2-(2-Phenylethyl)chromone Derivatives of Agarwood Originating from Gyrinops salicifolia. 61
27706109 2016
45
Sesquiterpenes of agarwood from Gyrinops salicifolia. 61
27491753 2016
46
RNF168 and USP10 regulate topoisomerase IIα function via opposing effects on its ubiquitylation. 61
27558965 2016
47
Time to Empower Release of Insects Carrying a Dominant Lethal and Wolbachia Against Zika. 61
27419175 2016
48
Similar vertical transmission rates of dengue and chikungunya viruses in a transgenic and a non-transformed Aedes aegypti (L.) laboratory strain. 61
33579149 2016
49
Nationwide Multicenter Reference Interval Study for 28 Common Biochemical Analytes in China. 61
26945390 2016
50
Evolutionary biology and genetic techniques for insect control. 61
27087849 2016

Variations for Riddle Syndrome

ClinVar genetic disease variations for Riddle Syndrome:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF168 NM_152617.4(RNF168):c.397dup (p.Ala133fs) Duplication Pathogenic 487 rs1577516447 GRCh37: 3:196214430-196214431
GRCh38: 3:196487559-196487560
2 RNF168 NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs) Deletion Pathogenic 488 rs1047608955 GRCh37: 3:196199080-196199083
GRCh38: 3:196472209-196472212
3 RNF168 NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) SNV Pathogenic 140755 rs201915239 GRCh37: 3:196214437-196214437
GRCh38: 3:196487566-196487566
4 RNF168 NM_152617.4(RNF168):c.1568T>G (p.Leu523Ter) SNV Pathogenic 998390 GRCh37: 3:196198838-196198838
GRCh38: 3:196471967-196471967
5 RNF168 NM_152617.4(RNF168):c.1123G>T (p.Glu375Ter) SNV Pathogenic 1030265 GRCh37: 3:196199283-196199283
GRCh38: 3:196472412-196472412
6 RNF168 NM_152617.4(RNF168):c.1264_1265del (p.Glu422fs) Deletion Pathogenic 1030266 GRCh37: 3:196199141-196199142
GRCh38: 3:196472270-196472271
7 RNF168 NM_152617.4(RNF168):c.659_662del (p.Arg220fs) Deletion Pathogenic 1034323 GRCh37: 3:196210659-196210662
GRCh38: 3:196483788-196483791
8 RNF168 NM_152617.4(RNF168):c.496A>G (p.Arg166Gly) SNV Uncertain significance 1030267 GRCh37: 3:196214332-196214332
GRCh38: 3:196487461-196487461
9 RNF168 NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) SNV Uncertain significance 993672 GRCh37: 3:196214299-196214299
GRCh38: 3:196487428-196487428
10 RNF168 NM_152617.4(RNF168):c.237A>G (p.Ile79Met) SNV Uncertain significance 992520 GRCh37: 3:196229808-196229808
GRCh38: 3:196502937-196502937
11 RNF168 NM_152617.4(RNF168):c.972G>A (p.Glu324=) SNV Benign 788402 rs35405598 GRCh37: 3:196199434-196199434
GRCh38: 3:196472563-196472563
12 RNF168 NM_152617.4(RNF168):c.1284A>G (p.Lys428=) SNV Benign 780904 rs78211871 GRCh37: 3:196199122-196199122
GRCh38: 3:196472251-196472251
13 RNF168 NM_152617.4(RNF168):c.307G>A (p.Asp103Asn) SNV Benign 995585 GRCh37: 3:196215549-196215549
GRCh38: 3:196488678-196488678

Expression for Riddle Syndrome

Search GEO for disease gene expression data for Riddle Syndrome.

Pathways for Riddle Syndrome

Pathways related to Riddle Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 H2AX H2AC20 H2AC18 H2AC14 H2AC13 H2AC12
2
Show member pathways
13.62 UIMC1 UBE2N TP53BP1 RNF168 MDC1 H2AX
3
Show member pathways
13.34 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
4
Show member pathways
13.16 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
5
Show member pathways
12.94 H2AX H2AC20 H2AC18 H2AC14 H2AC13 H2AC12
6
Show member pathways
12.68 UIMC1 H2AC20 H2AC18 H2AC14 H2AC13 H2AC12
7
Show member pathways
12.59 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
8 12.46 UIMC1 UBE2N TP53BP1 H2AX BRCC3 BRCA1
9
Show member pathways
12.4 TP53BP1 RNF168 MDC1 BRCA1
10
Show member pathways
12.4 H2AX H2AC20 H2AC18 H2AC14 BRCA1
11
Show member pathways
12.39 H2AX H2AC20 H2AC18 H2AC14
12
Show member pathways
12.3 H2AX H2AC20 H2AC18 H2AC14 H2AC13 H2AC11
13
Show member pathways
11.99 H2AX H2AC20 H2AC18 H2AC14 H2AC13 H2AC12
14
Show member pathways
11.97 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
15
Show member pathways
11.94 UIMC1 BRCC3 BRCA1
16 11.91 UBE2U UBE2N BRCA1
17 11.85 UBE2U UBE2N RNF8
18
Show member pathways
11.76 TP53BP1 MDC1 H2AX BRCA1
19 11.49 TP53BP1 RNF8 RNF168 MDC1 H2AX
20 10.9 UIMC1 H2AC20 H2AC18 H2AC14 H2AC13 H2AC12

GO Terms for Riddle Syndrome

Cellular components related to Riddle Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.19 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
2 extracellular exosome GO:0070062 10.13 UBE2N H2AX H2AC20 H2AC18 H2AC14 H2AC13
3 nucleus GO:0005634 10.09 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
4 chromatin GO:0000785 10.02 UBE2U H2AX H2AC20 H2AC18 H2AC14 H2AC13
5 nuclear body GO:0016604 9.83 UIMC1 TP53BP1 MDC1 ERCC6 BRCA1
6 chromosome, telomeric region GO:0000781 9.76 TP53BP1 RNF8 H2AX H2AC1
7 site of double-strand break GO:0035861 9.71 TP53BP1 RNF8 RNF168 H2AX
8 ubiquitin ligase complex GO:0000151 9.65 UBE2N RNF8 RNF168 BRCC3 BRCA1
9 nucleosome GO:0000786 9.56 H2AX H2AC20 H2AC18 H2AC14 H2AC13 H2AC12
10 site of DNA damage GO:0090734 9.51 H2AX ERCC6
11 BRCA1-A complex GO:0070531 9.5 UIMC1 BRCC3 BRCA1
12 chromosome GO:0005694 9.4 TP53BP1 RNF8 MDC1 H2AX H2AC20 H2AC18

Biological processes related to Riddle Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.02 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
2 cell cycle GO:0007049 10.01 RNF8 MDC1 H2AX BRCC3 BRCA1
3 DNA repair GO:0006281 10 UIMC1 UBE2U UBE2N TP53BP1 RNF8 RNF168
4 biological_process GO:0008150 9.99 H2AC20 H2AC18 H2AC14 H2AC13 H2AC12 H2AC11
5 protein ubiquitination GO:0016567 9.98 UBE2U UBE2N RNF8 RNF168 BRCA1
6 chromatin organization GO:0006325 9.92 UIMC1 RNF8 RNF168 H2AC1 BRCC3
7 double-strand break repair GO:0006302 9.88 UIMC1 RNF8 RNF168 H2AX BRCC3 BRCA1
8 response to ionizing radiation GO:0010212 9.85 UIMC1 RNF8 RNF168 H2AX BRCC3 BRCA1
9 positive regulation of DNA repair GO:0045739 9.76 UIMC1 UBE2N RNF8 RNF168 H2AX ERCC6
10 double-strand break repair via homologous recombination GO:0000724 9.73 UBE2N H2AX BRCA1
11 protein K63-linked ubiquitination GO:0070534 9.71 UBE2N RNF8 RNF168
12 DNA damage checkpoint GO:0000077 9.65 TP53BP1 H2AX ERCC6
13 response to X-ray GO:0010165 9.62 ERCC6 BRCC3
14 negative regulation of transcription elongation from RNA polymerase II promoter GO:0034244 9.61 RNF8 RNF168
15 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.61 UIMC1 BRCC3 BRCA1
16 isotype switching GO:0045190 9.6 RNF8 RNF168
17 DNA double-strand break processing GO:0000729 9.59 UBE2N BRCA1
18 histone ubiquitination GO:0016574 9.58 UBE2U UBE2N
19 postreplication repair GO:0006301 9.57 UBE2N BRCA1
20 chromatin silencing GO:0006342 9.56 H2AX H2AC20 H2AC18 H2AC14 H2AC13 H2AC12
21 histone H2A ubiquitination GO:0033522 9.55 RNF8 RNF168
22 histone H2A K63-linked deubiquitination GO:0070537 9.49 UIMC1 BRCC3
23 histone H2A K63-linked ubiquitination GO:0070535 9.46 RNF8 RNF168
24 double-strand break repair via nonhomologous end joining GO:0006303 9.28 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1

Molecular functions related to Riddle Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.73 H2AX H2AC13 H2AC11 BRCA1
2 DNA binding GO:0003677 9.73 UIMC1 TP53BP1 H2AX H2AC20 H2AC18 H2AC14
3 ubiquitin-protein transferase activity GO:0004842 9.67 UBE2N RNF8 RNF168 BRCA1
4 histone binding GO:0042393 9.55 UIMC1 TP53BP1 RNF8 RNF168 H2AX
5 ubiquitin binding GO:0043130 9.5 UBE2N RNF8 RNF168
6 damaged DNA binding GO:0003684 9.43 TP53BP1 H2AX BRCA1
7 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.4 UIMC1 RNF168
8 protein heterodimerization activity GO:0046982 9.23 H2AX H2AC20 H2AC18 H2AC14 H2AC13 H2AC12

Sources for Riddle Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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