RPEM
MCID: RTN193
MIFTS: 40

Retinitis Pigmentosa and Erythrocytic Microcytosis (RPEM)

Categories: Genetic diseases
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Aliases & Classifications for Retinitis Pigmentosa and Erythrocytic Microcytosis

MalaCards integrated aliases for Retinitis Pigmentosa and Erythrocytic Microcytosis:

Name: Retinitis Pigmentosa and Erythrocytic Microcytosis 57 73 28 5
Rpem 57 42 73
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 42 71
Retinitis Pigmentosa with Erythrocytic Microcytosis 42
Trnt1-Related Immunodeficiency+ 42
Trnt1-Related Immunodeficiency 42
Trnt1 Enzyme Deficiency 42
Hematological Disease 71
Trnt1 Deficiency 42
Sifd 42

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 3 patients (last curated may 2016)
one patient had rheumatoid arthritis and recurrent fevers in childhood


Classifications:



Summaries for Retinitis Pigmentosa and Erythrocytic Microcytosis

MedlinePlus Genetics: 42 TRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.A common feature of TRNT1 deficiency is a blood condition called sideroblastic anemia, which is characterized by a shortage of red blood cells (anemia). In TRNT1 deficiency, the red blood cells that are present are unusually small (erythrocytic microcytosis). In addition, developing red blood cells in the bone marrow (erythroblasts) can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment in the lab with certain dyes. These abnormal cells are called ring sideroblasts.Many people with TRNT1 deficiency have an immune system disorder (immunodeficiency) that can lead to recurrent bacterial infections. Repeated infections can cause life-threatening damage to internal organs. The immunodeficiency is characterized by low numbers of immune system cells called B cells, which normally help fight infections by producing immune proteins called antibodies (or immunoglobulins). These proteins target foreign invaders such as bacteria and viruses and mark them for destruction. In many individuals with TRNT1 deficiency, the amount of immunoglobulins is also low (hypogammaglobulinemia).In addition, many individuals with TRNT1 deficiency have recurrent fevers that are not caused by an infection. These fever episodes are often one of the earliest recognized symptoms of TRNT1 deficiency, usually beginning in infancy. The fever episodes are typically accompanied by poor feeding, vomiting, and diarrhea, and can lead to hospitalization. In many affected individuals, the episodes occur regularly, arising approximately every 2 to 4 weeks and lasting 5 to 7 days, although the frequency can decrease with age.Eye abnormalities, often involving the light-sensing tissue at the back of the eye (the retina), can occur in people with TRNT1 deficiency. Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the retina gradually deteriorate. Eye problems in TRNT1 deficiency can lead to vision loss.Neurological problems are also frequent in TRNT1 deficiency. Many affected individuals have delayed development of speech and motor skills, such as sitting, standing, and walking, and some have low muscle tone (hypotonia).Features that occur less commonly in people with TRNT1 deficiency include hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss), recurrent seizures (epilepsy), and problems with the kidneys or heart.TRNT1 deficiency encompasses what was first thought to be two separate disorders, a severe disorder called sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) and a milder disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each named for its most common features. SIFD begins in infancy, and affected individuals usually do not survive past childhood. RPEM, on the other hand, is recognized in early adulthood, and the microcytosis usually does not cause any health problems. However, it has since been recognized that some individuals have a combination of features that fall between these two ends of the severity spectrum. All of these cases are now considered part of TRNT1 deficiency.

MalaCards based summary: Retinitis Pigmentosa and Erythrocytic Microcytosis, also known as rpem, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and deficiency anemia, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Retinitis Pigmentosa and Erythrocytic Microcytosis is TRNT1 (TRNA Nucleotidyl Transferase 1). The drugs Ganciclovir and Foscarnet have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, b cells and retina, and related phenotypes are photoreceptor layer loss on macular oct and anemia

UniProtKB/Swiss-Prot: 73 An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia.

More information from OMIM: 616959

Related Diseases for Retinitis Pigmentosa and Erythrocytic Microcytosis

Diseases related to Retinitis Pigmentosa and Erythrocytic Microcytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 12.3
2 deficiency anemia 10.6
3 sideroblastic anemia 10.6
4 immune deficiency disease 10.5
5 agammaglobulinemia, x-linked 10.5
6 microcytic anemia 10.5
7 agammaglobulinemia 10.5
8 growth hormone deficiency 10.5
9 anemia, sideroblastic, 2, pyridoxine-refractory 10.2
10 familial mediterranean fever 10.2
11 anemia, sideroblastic, 1 10.2
12 sensorineural hearing loss 10.1
13 retinitis 10.1
14 premature menopause 10.1
15 microcephaly 10.1
16 fundus dystrophy 10.1
17 inherited retinal disorder 10.1
18 retinitis pigmentosa 10.0
19 b cell deficiency 10.0
20 lymphopenia 10.0
21 abdominal obesity-metabolic syndrome 1 10.0
22 nephrocalcinosis 10.0
23 diarrhea 10.0
24 exocrine pancreatic insufficiency 10.0
25 cataract 7 9.9
26 hydrops fetalis, nonimmune 9.9
27 immunodeficiency 48 9.9
28 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
29 kearns-sayre syndrome 9.9
30 retinitis pigmentosa 27 9.9
31 erythema nodosum 9.9
32 combined immunodeficiency 9.9
33 neonatal anemia 9.9
34 iron metabolism disease 9.9
35 eye disease 9.9
36 severe combined immunodeficiency 9.9
37 mitochondrial myopathy 9.9
38 cataract 9.9
39 children's interstitial lung disease 9.9

Comorbidity relations with Retinitis Pigmentosa and Erythrocytic Microcytosis via Phenotypic Disease Network (PDN): (show all 16)


Active Peptic Ulcer Disease Acute Cystitis
Bronchitis Decubitus Ulcer
Deficiency Anemia Heart Disease
Hypertension, Essential Hypothyroidism
Iron Deficiency Anemia Neutropenia
Osteoporosis Peripheral Vascular Disease
Primary Polycythemia Primary Thrombocytopenia
Protein-Energy Malnutrition Schizophreniform Disorder

Graphical network of the top 20 diseases related to Retinitis Pigmentosa and Erythrocytic Microcytosis:



Diseases related to Retinitis Pigmentosa and Erythrocytic Microcytosis

Symptoms & Phenotypes for Retinitis Pigmentosa and Erythrocytic Microcytosis

Human phenotypes related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photoreceptor layer loss on macular oct 30 Very rare (1%) HP:0030609
2 anemia 30 HP:0001903
3 myopia 30 HP:0000545
4 pallor 30 HP:0000980
5 nyctalopia 30 HP:0000662
6 optic disc pallor 30 HP:0000543
7 decreased serum iron 30 HP:0040303
8 elliptocytosis 30 HP:0004445
9 anisocytosis 30 HP:0011273
10 decreased mean corpuscular volume 30 HP:0025066
11 retinal pigment epithelial atrophy 30 HP:0007722
12 epiretinal membrane 30 HP:0100014
13 ring scotoma 30 HP:0030529

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
elliptocytosis
anisocytosis
poikilocytosis
microcytosis
near- to low-normal hemoglobin
more
Head And Neck Eyes:
mild optic disc pallor
significant macular edema (in some patients)
mild arteriolar attenuation
diffuse atrophy of peripheral retinal pigment epithelium
scant bone spicule-like pigmentary changes in periphery (in 1 patient)
more

Clinical features from OMIM®:

616959 (Updated 08-Dec-2022)

UMLS symptoms related to Retinitis Pigmentosa and Erythrocytic Microcytosis:


angina pectoris; chest pain; edema; signs and symptoms of ill-defined conditions; recurrent fevers

Drugs & Therapeutics for Retinitis Pigmentosa and Erythrocytic Microcytosis

Drugs for Retinitis Pigmentosa and Erythrocytic Microcytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
2
Foscarnet Approved Phase 4 63585-09-1, 4428-95-9 3415
3
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
4 Antiviral Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Ganciclovir triphosphate Phase 4
7 Reverse Transcriptase Inhibitors Phase 4
8
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
9
Busulfan Approved, Investigational Phase 2 55-98-1 2478
10
Melphalan Approved Phase 2 148-82-3 4053 460612
11
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
12 Janus Kinase Inhibitors Phase 1, Phase 2
13 Alkylating Agents Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Immunosuppressive Agents Phase 2
16 Immunologic Factors Phase 2
17 Antimetabolites Phase 2
18 Antilymphocyte Serum Phase 2
19
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
20
Coenzyme M Approved, Investigational Phase 1 3375-50-6 598 23662354
21
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
22 Antirheumatic Agents Phase 1
23 Protective Agents Phase 1
24 Histone Deacetylase Inhibitors Phase 1
25
Acetylsalicylic acid Approved, Vet_approved 50-78-2 2244
26
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
27
Polyestradiol phosphate Approved 28014-46-2
28
Hydrocortisone succinate Approved 2203-97-6 3643
29
Hydrocortisone acetate Approved, Vet_approved 50-03-3
30
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
31
Testosterone Approved, Investigational 58-22-0 5408 6013
32 Melanocyte-Stimulating Hormones
33 Insulin, Globin Zinc
34 Adrenocorticotropic Hormone
35
Insulin
36
beta-Endorphin
37 Estradiol 3-benzoate
38 Immunoglobulins
39 Estradiol 17 beta-cypionate
40 Hormones
41 Antibodies, Anti-Idiotypic
42 Follicle Stimulating Hormone
43 Antibodies
44 Hydrocortisone 17-butyrate 21-propionate
45 Mitogens

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Cytomegalovirus Specific Cytotoxic T Lymphocyte for the Treatment of Cytomegalovirus Infection After Allogeneic Hematopoietic Stem Cell Transplantation Recruiting NCT03004261 Phase 4 Foscarnet;Ganciclovir
2 Exercise Following Autologous Peripheral Blood Stem Cell Transplantation Unknown status NCT00883961 Phase 3
3 A Phase 1/2 Study of CPI-0610, a Small Molecule Inhibitor of BET Proteins: Phase 1 (Dose Escalation of CPI-0610 in Patients With Hematological Malignancies) and Phase 2 (Dose Expansion of CPI-0610 With and Without Ruxolitinib in Patients With Myelofibrosis and Essential Thrombocytopenia) Active, not recruiting NCT02158858 Phase 1, Phase 2 Pelabresib (CPI-0610);Ruxolitinib
4 Combined Transplantation of Unmanipulated Haploidentical and a SingleCord Blood Unit for Patients With Hematologic Malignancies Terminated NCT01359254 Phase 2 Melphalan;Fludarabine;Antithymocyte Globulin (ATG);Busulfan;Total Body Irradiation (TBI)
5 Haploidentical Donor Hematopoietic Stem Cell Transplantation Completed NCT02660281 Phase 1 Fludarabine;Pre-Stem Cell Infusion Cyclophosphamide;Pre-Stem Cell Infusion Mesna;Busulfan;Melphalan;Post-Stem Cell Infusion Cyclophosphamide;Post-Stem Cell Infusion Mesna;Thiotepa
6 A Phase I Study to Evaluate the Safety and Tolerability of the Histone Deacetylase Inhibitor, CHR-2845, in Patients With Advanced or Treatment Refractory Haematological Diseases or Lymphoid Malignancies Completed NCT00820508 Phase 1 CHR-2845
7 A Non-interventional Prospective Registry to Monitor the Events of Febrile Neutropenia and Invasive Fungal Infections and the Diagnostic and Therapeutic Management in Patients With Malignant Hematologic Diseases After Chemotherapy Unknown status NCT01684189
8 A Hospital-based Cohort Study in German Hematological / Oncological Wards to Assess the Effect of Contact Isolation on Nosocomial Colonization With ESBL-producing Escherichia Coli (CONTAIN Study) Unknown status NCT02456818
9 Multidisciplinary Follow-up of Patients Treated for Malignant Hematological Disease; Focus on the Patient's Preferences and Life Situation Unknown status NCT03031106
10 XIENCE 28 Global Study Completed NCT03355742 DAPT
11 Randomized Controlled Trial About the Effect of Liquid Compared to Solid Food on the Intake of Energy and Protein in Patients With Leukemia, Lymphoma or Other Malignant Hematologic Disease Completed NCT02447237
12 Occupational Status and Hematological Disease: Effects and Counseling Needs Completed NCT02057185
13 Family Caregiver Ambassador Support for Family Caregivers of Patients With Hematological Disease (FAM CARE) - a Feasibility Study Completed NCT04039100
14 Temporal Realistic Assessment of the Fungal Infection Incidence Across Canada for High Risk Subjects With Hematological Disease (TRAFIC) Completed NCT01254318
15 Evolution of the Energy Expenditure During Hematopoietic Stem Cell Transplantation in Patients With Hematological Disease and Associated Factors Completed NCT04535570
16 Follow-up of Fertility in Young Adults Who Did or Did Not Store Testicular Tissue Before Gonadotoxic Treatment for Fertility Preservation. Recruiting NCT04202094
17 Artificial Intelligence Algorithms to Automate the Total Marrow (Lymph-node) Irradiation by VMAT Optimization Using WB-CT/MRI and Synthetic WB-CT - The AuToMI Project Recruiting NCT04976205
18 The Comparison of mNGS Versus Blood Culture for Early Diagnosis of Blood Stream Infection During the Febrile Neutropenia in Patients With Hematological Disease Recruiting NCT05149547
19 Compassionate Communication and Advance Care Planning to Improve End of Life Care in Treatment of Hematological Disease (ACT)- a Cluster Randomized Controlled Study Enrolling by invitation NCT05444348

Search NIH Clinical Center for Retinitis Pigmentosa and Erythrocytic Microcytosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dexamethasone
dexamethasone acetate
DEXAMETHASONE ACETATE PWDR
Dexamethasone phosphate
Dexamethasone sodium phosphate
DEXAMETHASONE SODIUM PHOSPHATE PWDR
Methylprednisolone
methylprednisolone acetate
Methylprednisolone Sodium Succinate
prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR

Genetic Tests for Retinitis Pigmentosa and Erythrocytic Microcytosis

Genetic tests related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa and Erythrocytic Microcytosis 28 TRNT1

Anatomical Context for Retinitis Pigmentosa and Erythrocytic Microcytosis

Organs/tissues related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

MalaCards : Bone Marrow, B Cells, Retina, Eye, Bone, Lymph Node, Brain
ODiseA: Blood And Bone Marrow

Publications for Retinitis Pigmentosa and Erythrocytic Microcytosis

Articles related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

(show all 32)
# Title Authors PMID Year
1
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. 62 57 5
26494905 2016
2
A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome. 62
36121781 2022
3
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review. 62
35984545 2022
4
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. 62
34510712 2022
5
Combining Neural and Behavioral Measures Enhances Adaptive Training. 62
35237140 2022
6
Ocular involvement in monogenic autoinflammatory disease. 62
34509650 2021
7
[A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene]. 62
34625936 2021
8
Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene. 62
34310935 2021
9
Sideroblastic anaemia, immunodeficiency, periodic fevers and developmental delay (SIFD) presenting as systemic inflammation with arthritis. 62
33493307 2021
10
Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease. 62
33332575 2021
11
Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome. 62
33936027 2021
12
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant). 62
32592741 2020
13
Corrigendum to "Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects" [Genes Dis 7 (1) (2020) 128-137]. 62
32885000 2020
14
Diseases Associated with Defects in tRNA CCA Addition. 62
32471101 2020
15
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects. 62
32181284 2020
16
Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change. 62
30959222 2019
17
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. 62
30758723 2019
18
Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features. 62
31555444 2019
19
Bone marrow histopathologic findings in SIFD syndrome: beyond the erythroid lineage. 62
30262584 2018
20
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 62
29358286 2018
21
In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. 62
29454993 2018
22
SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis. 62
29055896 2018
23
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. 62
27389523 2016
24
TRNT1 deficiency: clinical, biochemical and molecular genetic features. 62
27370603 2016
25
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. 62
27317422 2016
26
Detection of preperimetric glaucoma using Bruch membrane opening, neural canal and posterior pole asymmetry analysis of optical coherence tomography. 62
26883374 2016
27
Enriched Cultures of Retinal Cells From BJNhem20 Human Embryonic Stem Cell Line of Indian Origin. 62
26567782 2015
28
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). 62
25193871 2014
29
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). 62
23553769 2013
30
A batch rival penalized expectation-maximization algorithm for Gaussian mixture clustering with automatic model selection. 62
22400050 2012
31
Building a biomedical cyberinfrastructure for collaborative research. 62
21521587 2011
32
Linking brain dynamics, neural mechanisms, and deep brain stimulation in Parkinson's disease: an integrated perspective. 62
19243986 2009

Variations for Retinitis Pigmentosa and Erythrocytic Microcytosis

ClinVar genetic disease variations for Retinitis Pigmentosa and Erythrocytic Microcytosis:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRNT1 NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) DUP Pathogenic
234934 rs876661298 GRCh37: 3:3189778-3189779
GRCh38: 3:3148094-3148095
2 TRNT1 NM_182916.3(TRNT1):c.1252del (p.Ser418fs) DEL Pathogenic
234933 rs876661298 GRCh37: 3:3189779-3189779
GRCh38: 3:3148095-3148095
3 TRNT1 NM_182916.3(TRNT1):c.609-26T>C SNV Pathogenic
234935 rs876661299 GRCh37: 3:3188088-3188088
GRCh38: 3:3146404-3146404
4 TRNT1 NM_182916.3(TRNT1):c.128_130del (p.Glu43del) DEL Pathogenic
234932 rs876661297 GRCh37: 3:3170850-3170852
GRCh38: 3:3129166-3129168
5 TRNT1 NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) DEL Likely Pathogenic
1323716 GRCh37: 3:3186281-3186284
GRCh38: 3:3144597-3144600
6 TRNT1 NM_182916.3(TRNT1):c.1057-7C>G SNV Likely Pathogenic
157615 rs368078167 GRCh37: 3:3189583-3189583
GRCh38: 3:3147899-3147899
7 TRNT1 NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) SNV Likely Pathogenic
963695 rs199931785 GRCh37: 3:3189779-3189779
GRCh38: 3:3148095-3148095
8 TRNT1 NM_182916.3(TRNT1):c.565C>A (p.Gln189Lys) SNV Uncertain Significance
1030387 rs1705873011 GRCh37: 3:3186351-3186351
GRCh38: 3:3144667-3144667
9 TRNT1 NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg) SNV Uncertain Significance
784897 rs187921784 GRCh37: 3:3189140-3189140
GRCh38: 3:3147456-3147456
10 TRNT1 NM_182916.3(TRNT1):c.608+6A>T SNV Uncertain Significance
827993 rs747803738 GRCh37: 3:3186400-3186400
GRCh38: 3:3144716-3144716
11 TRNT1 NM_182916.3(TRNT1):c.148+38A>G SNV Benign
1227102 GRCh37: 3:3170910-3170910
GRCh38: 3:3129226-3129226
12 TRNT1 NM_182916.3(TRNT1):c.948A>G (p.Ala316=) SNV Benign
380145 rs1705805 GRCh37: 3:3189279-3189279
GRCh38: 3:3147595-3147595
13 TRNT1 NM_182916.3(TRNT1):c.1056+11A>G SNV Benign
380146 rs1669348 GRCh37: 3:3189398-3189398
GRCh38: 3:3147714-3147714
14 TRNT1 NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu) SNV Benign
403570 rs334773 GRCh37: 3:3170792-3170792
GRCh38: 3:3129108-3129108

Expression for Retinitis Pigmentosa and Erythrocytic Microcytosis

Search GEO for disease gene expression data for Retinitis Pigmentosa and Erythrocytic Microcytosis.

Pathways for Retinitis Pigmentosa and Erythrocytic Microcytosis

GO Terms for Retinitis Pigmentosa and Erythrocytic Microcytosis

Sources for Retinitis Pigmentosa and Erythrocytic Microcytosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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