RPEM
MCID: RTN193
MIFTS: 46

Retinitis Pigmentosa and Erythrocytic Microcytosis (RPEM)

Categories: Blood diseases, Genetic 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 aplastic anemia, and has symptoms including angina pectoris, edema and chest pain. 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, liver and neutrophil, and related phenotypes are anemia and pallor

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 98)
# Related Disease Score Top Affiliating Genes
1 splenomegaly 29.6 EPO JAK2
2 aplastic anemia 28.8 EPO IL3 PIGA
3 trnt1 deficiency 11.1
4 anemia, hypochromic microcytic, with iron overload 1 10.8
5 atransferrinemia 10.8
6 methemoglobinemia due to deficiency of methemoglobin reductase 10.8
7 thrombotic thrombocytopenic purpura, congenital 10.8
8 anemia, hypochromic microcytic, with iron overload 2 10.8
9 diamond-blackfan anemia-like 10.8
10 subcorneal pustular dermatosis 10.8
11 mental retardation, autosomal recessive 2 10.1 CRBN TRNT1
12 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.1 CRBN TRNT1
13 acquired polycythemia 10.0 EPO JAK2
14 hemoglobinuria 9.9 EPO PIGA
15 hematopoietic stem cell transplantation 9.9
16 aspergillosis 9.9
17 graft-versus-host disease 9.9
18 neutropenia 9.9
19 anemia of prematurity 9.8 EPO IL3
20 megakaryocytic leukemia 9.8 IL3 JAK2
21 congenital hemolytic anemia 9.8 EPO IL3
22 pancytopenia 9.8 EPO IL3
23 myeloma, multiple 9.8 CRBN EPO JAK2
24 severe congenital neutropenia 9.8 IL3 JAK2
25 acute leukemia 9.8 IL3 JAK2
26 human herpesvirus 8 9.7
27 hepatitis 9.7
28 invasive aspergillosis 9.7
29 thrombosis 9.7
30 portal vein thrombosis 9.7
31 gaucher's disease 9.7
32 mastocytosis 9.7
33 pneumonia 9.7
34 acute graft versus host disease 9.7
35 chronic graft versus host disease 9.7
36 refractory anemia 9.7 EPO IL3 JAK2
37 erythrocytosis, familial, 1 9.7 EPO IL3 JAK2
38 primary polycythemia 9.7 EPO IL3 JAK2
39 polycythemia 9.7 EPO IL3 JAK2
40 thrombocytosis 9.7 EPO IL3 JAK2
41 polycythemia vera 9.7 EPO IL3 JAK2
42 bone marrow cancer 9.7 EPO IL3 JAK2
43 essential thrombocythemia 9.7 EPO IL3 JAK2
44 myelofibrosis 9.7 EPO IL3 JAK2
45 leukemia, chronic myeloid 9.7 EPO IL3 JAK2
46 deficiency anemia 9.6 EPO IL3
47 colorectal cancer 9.6
48 osteoporosis 9.6
49 porphyria cutanea tarda 9.6
50 radioulnar synostosis 9.6

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 13)
# Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903
2 pallor 32 HP:0000980
3 myopia 32 HP:0000545
4 nyctalopia 32 HP:0000662
5 optic disc pallor 32 HP:0000543
6 anisocytosis 32 HP:0011273
7 epiretinal membrane 32 HP:0100014
8 photoreceptor layer loss on macular oct 32 very rare (1%) HP:0030609
9 decreased mean corpuscular volume 32 HP:0025066
10 elliptocytosis 32 HP:0004445
11 decreased serum iron 32 HP:0040303
12 retinal pigment epithelial atrophy 32 HP:0007722
13 ring scotoma 32 HP:0030529

UMLS symptoms related to Retinitis Pigmentosa and Erythrocytic Microcytosis:


angina pectoris, edema, chest pain, 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, Liver, Neutrophil, B Cells, Myeloid, Bone Marrow

Publications for Retinitis Pigmentosa and Erythrocytic Microcytosis

Articles related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

(show all 13)
# Title Authors Year
1
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. ( 29519864 )
2018
2
Clinical utility of high-flow nasal cannula oxygen therapy for acute respiratory failure in patients with hematological disease. ( 27186476 )
2016
3
Screening for mutation R882 in the DNMT3A gene in Chinese patients with hematological disease. ( 22744846 )
2012
4
Systemic mastocytosis with an associated non mast cell lineage clonal hematological disease in a child. ( 22234140 )
2011
5
Primary testicular lymphoma: a strictly homogeneous hematological disease? ( 20372839 )
2010
6
Combined renal tubular acidosis and diabetes insipidus in hematological disease. ( 17322929 )
2007
7
Sibling cases of Mycobacterium avium complex disease associated with hematological disease. ( 17109096 )
2006
8
Progressive multifocal leukoencephalopathy: cidofovir therapy in three patients with underlying hematological disease. ( 12814108 )
2003
9
Effect of granulocyte-colony stimulating factor on empiric therapy with flomoxef sodium and tobramycin in febrile neutropenic patients with hematological malignancies. Kan-etsu Hematological Disease and Infection Study Group. ( 10071455 )
1999
10
Erythropoietin receptor and hematological disease. ( 9883806 )
1999
11
[Background and prognostic factors of fungemia in patients with hematological disease]. ( 9796190 )
1998
12
Budd-Chiari syndrome in patients with hematological disease: a therapeutic challenge. ( 9537458 )
1998
13
Sequential administration of OKT3 (anti-CD3) and interleukin-2 in two patients with chemoresistant hematological disease. ( 1446732 )
1992

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

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 9.16 IL3 JAK2
3 erythrocyte differentiation GO:0030218 8.96 EPO JAK2
4 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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