MCID: RTN072
MIFTS: 21

Retinohepatoendocrinologic Syndrome

Categories: Rare diseases

Aliases & Classifications for Retinohepatoendocrinologic Syndrome

MalaCards integrated aliases for Retinohepatoendocrinologic Syndrome:

Name: Retinohepatoendocrinologic Syndrome 57 20 70
Rh Deficiency Syndrome 70
Rhe Syndrome 57
Rh Disease 70

Characteristics:

OMIM®:

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


HPO:

31
retinohepatoendocrinologic syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 268040
MedGen 41 C1849399
UMLS 70 C0272052 C0748400 C1849399

Summaries for Retinohepatoendocrinologic Syndrome

MalaCards based summary : Retinohepatoendocrinologic Syndrome, is also known as rh deficiency syndrome. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and brain, and related phenotypes are hypothyroidism and pallor

More information from OMIM: 268040

Related Diseases for Retinohepatoendocrinologic Syndrome

Symptoms & Phenotypes for Retinohepatoendocrinologic Syndrome

Human phenotypes related to Retinohepatoendocrinologic Syndrome:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 HP:0000821
2 pallor 31 HP:0000980
3 elevated serum creatine kinase 31 HP:0003236
4 infertility 31 HP:0000789
5 abnormality of skin pigmentation 31 HP:0001000
6 optic disc pallor 31 HP:0000543
7 maturity-onset diabetes of the young 31 HP:0004904
8 monochromacy 31 HP:0007803
9 degenerative liver disease 31 HP:0005237
10 cone dystrophy 31 HP:0008020

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypothyroidism
maturity-onset diabetes of the young (mody)

Abdomen Liver:
degenerative liver disease

Laboratory Abnormalities:
elevated blood creatine phosphokinase

Genitourinary Internal Genitalia Female:
infertility

Head And Neck Eyes:
attenuated retinal vessels
total colorblindness
progressive cone dystrophy
disc pallor
atrophic retinal appearance
more

Clinical features from OMIM®:

268040 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinohepatoendocrinologic Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 2
2 Antibodies Phase 2
3
Catechin Approved, Withdrawn 154-23-4 9064
4
Epicatechin Investigational 490-46-0 72276
5 Tea

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety of Roledumab, a Fully Human Recombinant Monoclonal Anti-RhD Antibody, in RhD-negative Pregnant Woman Carrying an RhD-positive Foetus: a Phase IIb, Multicenter, Open-label Study Completed NCT02287896 Phase 2 ROLEDUMAB
2 Circulating microRNAs Expression as Predictors of Clinical Response in Rheumatoid Arthritis Patients Treated With Green Tea Completed NCT03719469
3 Early Identification of Rh Negative Women During Pregnancy and Use of Prophylaxis to Prevent Rh Disease of Newborns in Dadu District, Sindh, Pakistan Completed NCT03297671 RhIg prophylaxis
4 Using Community Health Workers and In-home LED Phototherapy to Dramatically Reduce Brain Damage From Neonatal Jaundice in Low to Middle Income Countries: A Feasibility Trial Recruiting NCT03933423

Search NIH Clinical Center for Retinohepatoendocrinologic Syndrome

Genetic Tests for Retinohepatoendocrinologic Syndrome

Anatomical Context for Retinohepatoendocrinologic Syndrome

MalaCards organs/tissues related to Retinohepatoendocrinologic Syndrome:

40
Liver, Heart, Brain

Publications for Retinohepatoendocrinologic Syndrome

Articles related to Retinohepatoendocrinologic Syndrome:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction. III. Genetic studies. 57
304775 1978
2
A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings. 57
946718 1976
3
BIND score: A system to triage infants readmitted for extreme hyperbilirubinemia. 61
33309176 2021
4
Rhesus disease in Brazil: A multi-professional national survey. 61
33309010 2021
5
The fetal inflammatory response syndrome: the origins of a concept, pathophysiology, diagnosis, and obstetrical implications. 61
33164775 2020
6
Hemolytic disease of the fetus and newborn due to Rh(D) incompatibility: A preventable disease that still produces significant morbidity and mortality in children. 61
32687543 2020
7
Reduction of neonatal Rh disease in the Lazio Region. 61
31696554 2019
8
The continuing burden of Rh disease 50 years after the introduction of anti-Rh(D) immunoglobin prophylaxis: call to action. 61
31121145 2019
9
Genotyping to prevent Rh disease: has the time come? 61
28937404 2017
10
Impact of Rhesus disease on the global problem of bilirubin-induced neurologic dysfunction. 61
25582277 2015
11
Evaluating food additives as antifungal agents against Monilinia fructicola in vitro and in hydroxypropyl methylcellulose-lipid composite edible coatings for plums. 61
24742996 2014
12
Neonatal hyperbilirubinemia and Rhesus disease of the newborn: incidence and impairment estimates for 2010 at regional and global levels. 61
24366465 2013
13
Antifungal activity of food additives in vitro and as ingredients of hydroxypropyl methylcellulose-lipid edible coatings against Botrytis cinerea and Alternaria alternata on cherry tomato fruit. 61
24026010 2013
14
Bilirubin neurotoxicity in preterm infants: risk and prevention. 61
24049745 2013
15
The effect of Rh-negative disease on perinatal mortality: some evidence from the Skellefteå region, Sweden, 1860-1900. 61
23137077 2012
16
Neonatal alloimmune thrombocytopenia: a case study. 61
22052120 2011
17
The global burden of Rh disease. 61
21037283 2011
18
Severe neonatal hyperbilirubinemia and adverse short-term consequences in Baghdad, Iraq. 61
21212697 2011
19
Exchange transfusion in severe hyperbilirubinemia: an experience in northwest Iran. 61
21043381 2010
20
Jack Bowman: Winnipeg's contributions to the treatment and prevention of Rhesus hemolytic disease of the newborn. 61
19962577 2010
21
Commentary: reducing the world's stillbirths. 61
19426464 2009
22
Conditions for development of powdery mildew of tomato caused by Oidium neolycopersici. 61
18944077 2008
23
An emergency medicine approach to neonatal hyperbilirubinemia. 61
17950138 2007
24
Effect of Microclimate on Leveillula taurica Powdery Mildew of Sweet Pepper. 61
18943930 2007
25
Genomic analysis of genetic markers associated with inherited cardiomyopathy (round heart disease) in the turkey (Meleagris gallopavo). 61
17433016 2007
26
Prevalence of new maternal alloantibodies after intrauterine transfusion for severe Rhesus disease. 61
16586229 2006
27
[Rh hemolytic disease in a pregnant woman after peripheral blood progenitor cells allotransplantation mismatched in Rh and ABO group system -- case report]. 61
16547383 2005
28
[Pregnancy after ABO and Rh mismatched allotransplantation of peripheral blood progenitor cells, complicated by Rh disease]. 61
16013185 2005
29
The role of preimplantation genetic diagnosis in the management of severe rhesus alloimmunization: first unaffected pregnancy: case report. 61
15661826 2005
30
Stillbirth: a review. 61
15512717 2004
31
Fetal and neonatal cytopenias: what have we learned? 61
14703590 2003
32
Pericardial disease in pregnancy. 61
12756478 2003
33
[Prevention of mental retardation]. 61
12589608 2003
34
[Management of severe neonatal Rh disease following in utero exchange transfusion: towards a new strategy]. 61
12462844 2002
35
Rh-disease. a perinatal success story. 61
12220756 2002
36
Overview of the state of the art of Rh disease: history, current clinical management, and recent progress. 61
11878787 2001
37
Overview of the state of the art of Rh disease: history, current clinical management, and recent progress. 61
11563777 2001
38
Clinical value of an antibody-dependent cell-mediated cytotoxicity assay in the management of Rh D alloimmunization. 61
11303214 2001
39
Sonographic methods to detect fetal anemia in red blood cell alloimmunization. 61
10758620 2000
40
Rh disease: intrauterine intravascular fetal blood transfusion by cordocentesis. 61
10770677 1999
41
Perinatal medicine: a look to the future. 61
10224740 1998
42
The decline in Rh hemolytic disease: should Rh prophylaxis get all the credit? 61
9491009 1998
43
[Fetal plasma erythropoietin concentration during intrauterine transfusion therapy in isoimmunohemolytic anemia due to rhesus incompatibility]. 61
9381123 1997
44
Intravenous immune globulin in the management of severe Rh D hemolytic disease. 61
9061721 1997
45
Accuracy of prenatal determination of RhD type status by polymerase chain reaction with amniotic cells. 61
7485316 1995
46
Management of neonatal Rh disease. 61
8521682 1995
47
Historical perspective of Rh disease in Nebraska (1973-1982). Part II. Profile of Rh negative women experiencing a fetal death. 61
8008148 1994
48
[Fetal and neonatal alloimmune thrombocytopenia]. 61
8211017 1993
49
[Diagnosis of fetal hemolytic disease and therapeutic possibilities]. 61
1305586 1992
50
Fetal surgery: correction of anatomic and constitutional defects. 61
1613337 1992

Variations for Retinohepatoendocrinologic Syndrome

Expression for Retinohepatoendocrinologic Syndrome

Search GEO for disease gene expression data for Retinohepatoendocrinologic Syndrome.

Pathways for Retinohepatoendocrinologic Syndrome

GO Terms for Retinohepatoendocrinologic Syndrome

Sources for Retinohepatoendocrinologic 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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