MCID: RTN193
MIFTS: 46

Retinitis Pigmentosa and Erythrocytic Microcytosis

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Retinitis Pigmentosa and Erythrocytic Microcytosis

MalaCards integrated aliases for Retinitis Pigmentosa and Erythrocytic Microcytosis:

Name: Retinitis Pigmentosa and Erythrocytic Microcytosis 57 75 29 6
Rpem 57 75
Hematological Disease 73
Hematologic Diseases 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinitis pigmentosa and erythrocytic microcytosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa and Erythrocytic Microcytosis

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa and erythrocytic microcytosis: An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia.

MalaCards based summary : Retinitis Pigmentosa and Erythrocytic Microcytosis, also known as rpem, is related to splenomegaly and neutropenia, 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), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. Affiliated tissues include bone, t cells and bone marrow, and related phenotypes are optic disc pallor and myopia

Description 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 top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 splenomegaly 29.4 EPO JAK2
2 neutropenia 27.8 EPO IL3
3 trnt1 deficiency 10.9
4 anemia, hypochromic microcytic, with iron overload 1 10.7
5 atransferrinemia 10.7
6 methemoglobinemia and ambiguous genitalia 10.7
7 methemoglobinemia due to deficiency of methemoglobin reductase 10.7
8 thrombotic thrombocytopenic purpura, congenital 10.7
9 anemia, hypochromic microcytic, with iron overload 2 10.7
10 mental retardation, autosomal recessive 2 10.3 CRBN TRNT1
11 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.3 CRBN TRNT1
12 acquired polycythemia 9.9 EPO JAK2
13 acute erythroid leukemia 9.8 EPO JAK2
14 hematopoietic stem cell transplantation 9.8
15 graft-versus-host disease 9.8
16 aspergillosis 9.6
17 hepatitis 9.6
18 thrombosis 9.6
19 portal vein thrombosis 9.6
20 gaucher's disease 9.6
21 acute graft versus host disease 9.6
22 chronic graft versus host disease 9.6
23 zygomycosis 9.6
24 megakaryocytic leukemia 9.5 IL3 JAK2
25 anemia of prematurity 9.5 EPO IL3
26 colorectal cancer 9.5
27 systemic lupus erythematosus 9.5
28 porphyria cutanea tarda 9.5
29 radioulnar synostosis 9.5
30 anemia, autoimmune hemolytic 9.5
31 pyruvate kinase deficiency of red cells 9.5
32 werner syndrome 9.5
33 hepatitis c virus 9.5
34 adult respiratory distress syndrome 9.5
35 common variable immunodeficiency 9.5
36 hemolytic anemia 9.5
37 hepatitis b 9.5
38 liver cirrhosis 9.5
39 renal tubular acidosis 9.5
40 systemic mastocytosis 9.5
41 testicular lymphoma 9.5
42 thalassemia 9.5
43 invasive aspergillosis 9.5
44 lymphoma 9.5
45 mucositis 9.5
46 legionellosis 9.5
47 strongyloidiasis 9.5
48 respiratory failure 9.5
49 synostosis 9.5
50 cryptococcosis 9.5

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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
poikilocytosis
anisocytosis
elliptocytosis
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

Human phenotypes related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 32 HP:0000543
2 myopia 32 HP:0000545
3 nyctalopia 32 HP:0000662
4 anemia 32 HP:0001903
5 elliptocytosis 32 HP:0004445
6 retinal pigment epithelial atrophy 32 HP:0007722
7 anisocytosis 32 HP:0011273
8 decreased mean corpuscular volume 32 HP:0025066
9 ring scotoma 32 HP:0030529
10 photoreceptor layer loss on macular oct 32 very rare (1%) HP:0030609
11 decreased serum iron 32 HP:0040303
12 epiretinal membrane 32 HP:0100014

UMLS symptoms related to Retinitis Pigmentosa and Erythrocytic Microcytosis:


angina pectoris, chest pain, edema, signs and symptoms of ill-defined conditions

Drugs & Therapeutics for Retinitis Pigmentosa and Erythrocytic Microcytosis

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 29 TRNT1

Anatomical Context for Retinitis Pigmentosa and Erythrocytic Microcytosis

MalaCards organs/tissues related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

41
Bone, T Cells, Bone Marrow, Pituitary, Liver, Spleen, Lung

Publications for Retinitis Pigmentosa and Erythrocytic Microcytosis

Articles related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

(show top 50) (show all 92)
# Title Authors Year
1
Priapism as the initial sign in hematologic disease: Case report and literature review. ( 29414500 )
2018
2
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. ( 29519864 )
2018
3
Splenectomy in systemic lupus erythematosus and autoimmune hematologic disease: a comparative analysis. ( 29335897 )
2018
4
GATA factor mutations in hematologic disease. ( 28179280 )
2017
5
Hepatitis B in patients with hematological diseases: An update. ( 28951776 )
2017
6
Cryptococcosis in patients with hematological diseases: a 14-year retrospective clinical analysis in a Chinese tertiary hospital. ( 28673256 )
2017
7
Telomerase and telomere biology in hematological diseases: A new therapeutic target. ( 28196338 )
2017
8
Detection of CALR Mutation in Clonal and Nonclonal Hematologic Diseases Using Fragment Analysis and Next-Generation Sequencing. ( 27686171 )
2016
9
Clinical utility of high-flow nasal cannula oxygen therapy for acute respiratory failure in patients with hematological disease. ( 27186476 )
2016
10
Role of procalcitonin and C-reactive protein for discrimination between tumor fever and infection in patients with hematological diseases. ( 24991721 )
2015
11
[Combination antifungal therapy for invasive fungal disease in children with hematologic disease]. ( 26632462 )
2015
12
Prognostic impact of WT1 expression prior to hematopoietic stem cell transplantation in children with malignant hematological diseases. ( 25238704 )
2015
13
Direct costs associated with febrile neutropenia in inpatients with hematological diseases in Singapore. ( 24287505 )
2013
14
Feasibility and outcome of CT-guided lung biopsy in patients with hematological diseases and suspected fungal pneumonia. ( 24129628 )
2013
15
Haploidentical hematopoietic stem cell transplantation without in vitro T-cell-depletion for the treatment of hematologic diseases. ( 23428874 )
2013
16
Two days of antithymocyte globulin are associated with a reduced incidence of acute and chronic graft-versus-host disease in reduced-intensity conditioning transplantation for hematologic diseases. ( 23096591 )
2013
17
Utility of PCR amplification and DNA microarray hybridization of 16S rDNA for rapid diagnosis of bacteremia associated with hematological diseases. ( 23228627 )
2013
18
Autoimmune Hematological Diseases after Allogeneic Hematopoietic Stem Cell Transplantation in Children: An Italian Multicenter Experience. ( 24274983 )
2013
19
Unusual hematologic disease affecting Caucasian children traveling to Southeast Asia: acquired platelet dysfunction with eosinophilia. ( 22567219 )
2012
20
Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease. ( 22744846 )
2012
21
Assessment of splenic perfusion in patients with malignant hematologic diseases and spleen involvement, liver cirrhosis and controls using volume perfusion CT (VPCT): a pilot study. ( 22326669 )
2012
22
Chronic graft versus host disease but not the intensity of conditioning has impact on survival after allogeneic hematopoietic stem cell transplantation for advanced hematological diseases. ( 23007145 )
2012
23
Efficacy and safety of doripenem for sepsis with neutropenia in Japanese patients with hematologic diseases. ( 23259255 )
2012
24
Laparoscopic splenectomy for massive splenomegaly in benign hematological diseases. ( 22580880 )
2012
25
Prognosis of invasive pulmonary aspergillosis in patients with hematologic diseases in Korea. ( 23227068 )
2012
26
Relevance of JAK2V617F positivity to hematological diseases--survey of samples from a clinical genetics laboratory. ( 21235771 )
2011
27
Systemic mastocytosis with an associated non mast cell lineage clonal hematological disease in a child. ( 22234140 )
2011
28
Nucleophosmin and its complex network: a possible therapeutic target in hematological diseases. ( 21278791 )
2011
29
Coinheritance of Gaucher disease and I+-thalassemia resulting in confusion between two inherited hematologic diseases. ( 20846888 )
2011
30
Galactomannan detection in bronchoalveolar lavage fluid for the diagnosis of invasive aspergillosis in patients with hematological diseases-the role of factors affecting assay performance. ( 22040924 )
2011
31
The suggestion of a risk stratification system for febrile neutropenia in patients with hematologic disease. ( 19762083 )
2010
32
Primary testicular lymphoma: a strictly homogeneous hematological disease? ( 20372839 )
2010
33
[Molecular analyses for (early) recognition of hematologic diseases - sense and sensibility for molecular analysis: the art of intelligent decision-making]. ( 20577963 )
2010
34
Cotransplantation of HLA-identical mesenchymal stem cells and hematopoietic stem cells in Chinese patients with hematologic diseases. ( 19656235 )
2010
35
Alterations in the expression pattern of TCR zeta chain in T cells from patients with hematological diseases. ( 18854088 )
2008
36
Combined renal tubular acidosis and diabetes insipidus in hematological disease. ( 17322929 )
2007
37
Tacrolimus as prophylaxis for acute graft-versus-host disease in reduced intensity cord blood transplantation for adult patients with advanced hematologic diseases. ( 17700155 )
2007
38
The influence of palifermin (Kepivance) on oral mucositis and acute graft versus host disease in patients with hematological diseases undergoing hematopoietic stem cell transplant. ( 17846600 )
2007
39
Association of transforming growth factor-beta1 gene polymorphism in the development of Epstein-Barr virus-related hematologic diseases. ( 18024394 )
2007
40
[Expression of wnt5a gene in hematologic diseases and leukemic cell lines]. ( 17956663 )
2007
41
Portal vein thrombosis after laparoscopic splenectomy in benign hematologic diseases. ( 17705724 )
2007
42
Sibling cases of Mycobacterium avium complex disease associated with hematological disease. ( 17109096 )
2006
43
GATA transcription factors and hematological diseases. ( 16960339 )
2006
44
Portal vein thrombosis after splenectomy in pediatric hematologic disease: risk factors, clinical features, and outcome. ( 17101367 )
2006
45
GATA transcription factors in hematologic disease. ( 16158817 )
2005
46
Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). ( 15994061 )
2005
47
The use of recombinant human activated protein C (rhAPC) in the treatment of severe sepsis in immunosuppressed patients in the course of hematological diseases. ( 16049385 )
2005
48
Zygomycosis after prolonged use of voriconazole in immunocompromised patients with hematologic disease: attention required. ( 15712069 )
2005
49
[Conventional and new laboratory parameters in the evaluation of hematologic disease]. ( 15018392 )
2004
50
Improved outcome of zygomycosis in patients with hematological diseases? ( 15359632 )
2004

Variations for Retinitis Pigmentosa and Erythrocytic Microcytosis

ClinVar genetic disease variations for Retinitis Pigmentosa and Erythrocytic Microcytosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRNT1 NM_001302946.1(TRNT1): c.128_130delAAG (p.Glu43del) deletion Pathogenic rs876661297 GRCh37 Chromosome 3, 3170852: 3170854
2 TRNT1 NM_001302946.1(TRNT1): c.128_130delAAG (p.Glu43del) deletion Pathogenic rs876661297 GRCh38 Chromosome 3, 3129168: 3129170
3 TRNT1 NM_001302946.1(TRNT1): c.1192delA (p.Ser398Valfs) deletion Pathogenic rs876661298 GRCh37 Chromosome 3, 3189785: 3189785
4 TRNT1 NM_001302946.1(TRNT1): c.1192delA (p.Ser398Valfs) deletion Pathogenic rs876661298 GRCh38 Chromosome 3, 3148101: 3148101
5 TRNT1 NM_001302946.1(TRNT1): c.1192dupA (p.Ser398Lysfs) duplication Pathogenic rs878853266 GRCh38 Chromosome 3, 3148101: 3148101
6 TRNT1 NM_001302946.1(TRNT1): c.1192dupA (p.Ser398Lysfs) duplication Pathogenic rs878853266 GRCh37 Chromosome 3, 3189785: 3189785
7 TRNT1 NM_001302946.1(TRNT1): c.609-26T> C single nucleotide variant Pathogenic rs876661299 GRCh37 Chromosome 3, 3188088: 3188088
8 TRNT1 NM_001302946.1(TRNT1): c.609-26T> C single nucleotide variant Pathogenic rs876661299 GRCh38 Chromosome 3, 3146404: 3146404

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

Pathways related to Retinitis Pigmentosa and Erythrocytic Microcytosis according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 EPO IL3 JAK2
2 12.3 EPO IL3 JAK2
3
Show member pathways
11.93 EPO IL3 JAK2
4
Show member pathways
11.54 IL3 JAK2
5 11.54 EPO IL3
6
Show member pathways
11.44 EPO JAK2
7 11.42 EPO IL3
8
Show member pathways
11.34 EPO IL3 JAK2
9 11.05 EPO IL3
10 11 EPO IL3
11
Show member pathways
10.9 EPO JAK2
12 10.74 EPO IL3 JAK2

GO Terms for Retinitis Pigmentosa and Erythrocytic Microcytosis

Biological processes related to Retinitis Pigmentosa and Erythrocytic Microcytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.43 EPO IL3 JAK2
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.32 IL3 JAK2
3 erythrocyte differentiation GO:0030218 9.16 EPO JAK2
4 positive regulation of DNA replication GO:0045740 8.96 EPO IL3
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.8 EPO IL3 JAK2

Molecular functions related to Retinitis Pigmentosa and Erythrocytic Microcytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.62 IL3 JAK2

Sources for Retinitis Pigmentosa and Erythrocytic Microcytosis

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