MCID: RTN072
MIFTS: 39

Retinohepatoendocrinologic Syndrome

Categories: Blood diseases, Endocrine diseases, Immune diseases, Rare diseases

Aliases & Classifications for Retinohepatoendocrinologic Syndrome

MalaCards integrated aliases for Retinohepatoendocrinologic Syndrome:

Name: Retinohepatoendocrinologic Syndrome 57 53 59 73
Rh Deficiency Syndrome 12 53 59 15 73
Rh-Null Syndrome 53 59
Rh Disease 76 73
Rhe Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
retinohepatoendocrinologic syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;
rh deficiency syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinohepatoendocrinologic syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 268040
Disease Ontology 12 DOID:0050641
UMLS via Orphanet 74 C1849399 C0272052 C1849387
ICD10 via Orphanet 34 D58.8
MedGen 42 C1849399

Summaries for Retinohepatoendocrinologic Syndrome

NIH Rare Diseases : 53 The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome:The regulator type is associated with many different changes (mutations) in the RHAG gene .  The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.

MalaCards based summary : Retinohepatoendocrinologic Syndrome, also known as rh deficiency syndrome, is related to rh-null, regulator type and rh-null, amorph type. An important gene associated with Retinohepatoendocrinologic Syndrome is RHAG (Rh Associated Glycoprotein), and among its related pathways/superpathways is Cell surface interactions at the vascular wall. Affiliated tissues include liver and skin, and related phenotypes are hypothyroidism and elevated serum creatine phosphokinase

Wikipedia : 76 Rh disease (also known as rhesus isoimmunisation, Rh (D) disease, rhesus incompatibility, rhesus... more...

Description from OMIM: 268040

Related Diseases for Retinohepatoendocrinologic Syndrome

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

# Related Disease Score Top Affiliating Genes
1 rh-null, regulator type 11.6
2 rh-null, amorph type 11.4
3 blood group incompatibility 10.0 RHCE RHD
4 fetal erythroblastosis 10.0 RHCE RHD
5 anemia, autoimmune hemolytic 10.0 RHCE RHD
6 rh isoimmunization 9.9 RHCE RHD
7 autoimmune disease of blood 9.9 RHCE RHD
8 coccidiosis 9.8 RHCE RHD
9 hereditary spherocytosis 9.8 CD47 GYPB RHD

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



Diseases related to Retinohepatoendocrinologic Syndrome

Symptoms & Phenotypes for Retinohepatoendocrinologic Syndrome

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hypothyroidism
maturity-onset diabetes of the young (mody)

Eyes:
attenuated retinal vessels
total colorblindness
progressive cone dystrophy
disc pallor
atrophic retinal appearance
more
Misc:
repeated abortions

G U:
infertility

G I:
degenerative liver disease

Lab:
elevated blood creatine phosphokinase


Clinical features from OMIM:

268040

Human phenotypes related to Retinohepatoendocrinologic Syndrome:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
3 decreased liver function 59 32 hallmark (90%) Very frequent (99-80%) HP:0001410
4 optic disc pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000543
5 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
6 dyschromatopsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007641
7 maturity-onset diabetes of the young 59 32 hallmark (90%) Very frequent (99-80%) HP:0004904
8 recurrent spontaneous abortion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200067
9 abnormality of retinal pigmentation 59 Excluded (0%)
10 pallor 32 HP:0000980
11 abnormality of skin pigmentation 32 HP:0001000
12 monochromacy 32 HP:0007803
13 degenerative liver disease 32 HP:0005237
14 progressive cone degeneration 32 HP:0008020

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.4 RHCE RHD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.4 RHAG
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.4 RHAG RHCE RHD
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.4 RHD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.4 RHD
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 RHCE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.4 RHAG
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.4 RHAG
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.4 RHAG

Drugs & Therapeutics for Retinohepatoendocrinologic Syndrome

Search Clinical Trials , NIH Clinical Center for Retinohepatoendocrinologic Syndrome

Genetic Tests for Retinohepatoendocrinologic Syndrome

Anatomical Context for Retinohepatoendocrinologic Syndrome

MalaCards organs/tissues related to Retinohepatoendocrinologic Syndrome:

41
Liver, Skin

Publications for Retinohepatoendocrinologic Syndrome

Articles related to Retinohepatoendocrinologic Syndrome:

# Title Authors Year
1
Rh-deficiency syndrome. ( 11784606 )
2001
2
Structure and expression of the RH locus in the Rh-deficiency syndrome. ( 8329719 )
1993
3
Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. ( 3103426 )
1987

Variations for Retinohepatoendocrinologic Syndrome

ClinVar genetic disease variations for Retinohepatoendocrinologic Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHAG NM_000324.2(RHAG): c.154_157delCCTCinsGA (p.Pro52Aspfs) indel Pathogenic rs387906519 GRCh37 Chromosome 6, 49604369: 49604372
2 RHAG NM_000324.2(RHAG): c.154_157delCCTCinsGA (p.Pro52Aspfs) indel Pathogenic rs387906519 GRCh38 Chromosome 6, 49636656: 49636659
3 RHAG RHAG, 1-BP DEL, 1086A deletion Pathogenic
4 RHAG NM_000324.2(RHAG): c.836G> A (p.Gly279Glu) single nucleotide variant Pathogenic rs121918587 GRCh37 Chromosome 6, 49580219: 49580219
5 RHAG NM_000324.2(RHAG): c.836G> A (p.Gly279Glu) single nucleotide variant Pathogenic rs121918587 GRCh38 Chromosome 6, 49612506: 49612506
6 RHAG RHAG, IVS1, G-A, +1 single nucleotide variant Pathogenic
7 RHAG RHAG, IVS6, G-A, -1 single nucleotide variant Pathogenic
8 RHAG RHAG, IVS7, G-A, +1 single nucleotide variant Pathogenic
9 RHAG NM_000324.2(RHAG): c.808G> A (p.Val270Ile) single nucleotide variant Benign rs16879498 GRCh37 Chromosome 6, 49580247: 49580247
10 RHAG NM_000324.2(RHAG): c.808G> A (p.Val270Ile) single nucleotide variant Benign rs16879498 GRCh38 Chromosome 6, 49612534: 49612534
11 RHAG NM_000324.2(RHAG): c.1139G> T (p.Gly380Val) single nucleotide variant Pathogenic rs121918589 GRCh37 Chromosome 6, 49574634: 49574634
12 RHAG NM_000324.2(RHAG): c.1139G> T (p.Gly380Val) single nucleotide variant Pathogenic rs121918589 GRCh38 Chromosome 6, 49606921: 49606921
13 RHAG NM_000324.2(RHAG): c.838G> A (p.Gly280Arg) single nucleotide variant no interpretation for the single variant rs104893987 GRCh37 Chromosome 6, 49580217: 49580217
14 RHAG NM_000324.2(RHAG): c.838G> A (p.Gly280Arg) single nucleotide variant no interpretation for the single variant rs104893987 GRCh38 Chromosome 6, 49612504: 49612504

Expression for Retinohepatoendocrinologic Syndrome

Search GEO for disease gene expression data for Retinohepatoendocrinologic Syndrome.

Pathways for Retinohepatoendocrinologic Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.88 CD47 GYPB

GO Terms for Retinohepatoendocrinologic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.63 CD47 GYPB RHAG RHCE RHCG RHD
2 integral component of membrane GO:0016021 9.43 CD47 GYPB RHAG RHCE RHCG RHD
3 integral component of plasma membrane GO:0005887 9.1 CD47 GYPB RHAG RHCE RHCG RHD

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

# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.26 CD47 GYPB
2 ammonium transmembrane transport GO:0072488 9.26 RHAG RHCE RHCG RHD
3 cellular ion homeostasis GO:0006873 9.16 RHAG RHCG
4 ammonium transport GO:0015696 8.92 RHAG RHCE RHCG RHD

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

# Name GO ID Score Top Affiliating Genes
1 ankyrin binding GO:0030506 8.96 RHAG RHCG
2 ammonium transmembrane transporter activity GO:0008519 8.92 RHAG RHCE RHCG RHD

Sources for Retinohepatoendocrinologic Syndrome

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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