MTCHRS
MCID: MTC096
MIFTS: 31

Mitchell-Riley Syndrome (MTCHRS)

Categories: Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Mitchell-Riley Syndrome

MalaCards integrated aliases for Mitchell-Riley Syndrome:

Name: Mitchell-Riley Syndrome 57 72 36 29 6 39 70
Mtchrs 57 72
Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia 57
Diabetes Neonatal with Pancreatic Hypoplasia Intestinal Atresia and Gallbladder Aplasia or Hypoplasia 72
Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

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

Miscellaneous:
frequently fatal within the first year of life


HPO:

31
mitchell-riley syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 615710
KEGG 36 H01377
MeSH 44 D004066
ICD10 via Orphanet 33 Q45.8
UMLS via Orphanet 71 C2748662
Orphanet 58 ORPHA293864
MedGen 41 C2748662
UMLS 70 C2748662

Summaries for Mitchell-Riley Syndrome

OMIM® : 57 Mitchell-Riley syndrome is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (601346), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (Smith et al., 2010). (615710) (Updated 05-Apr-2021)

MalaCards based summary : Mitchell-Riley Syndrome, also known as mtchrs, is related to martinez-frias syndrome and neonatal diabetes, and has symptoms including diarrhea An important gene associated with Mitchell-Riley Syndrome is RFX6 (Regulatory Factor X6). Affiliated tissues include pancreas and liver, and related phenotypes are anteriorly placed anus and malabsorption

KEGG : 36 Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome.

UniProtKB/Swiss-Prot : 72 Mitchell-Riley syndrome: A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features.

Related Diseases for Mitchell-Riley Syndrome

Diseases related to Mitchell-Riley Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 martinez-frias syndrome 11.6
2 neonatal diabetes 10.5
3 intestinal atresia 10.3
4 pancreas, annular 10.1
5 tracheoesophageal fistula with or without esophageal atresia 10.1
6 duodenal atresia 10.1
7 frias syndrome 10.1
8 autosomal recessive disease 10.1
9 diarrhea 10.1
10 cholestasis 10.1
11 biliary atresia 10.1
12 hyperglycemia 10.1
13 biliary hypoplasia 10.1

Graphical network of the top 20 diseases related to Mitchell-Riley Syndrome:



Diseases related to Mitchell-Riley Syndrome

Symptoms & Phenotypes for Mitchell-Riley Syndrome

Human phenotypes related to Mitchell-Riley Syndrome:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 anteriorly placed anus 31 occasional (7.5%) HP:0001545
2 malabsorption 31 HP:0002024
3 intrauterine growth retardation 31 HP:0001511
4 intestinal malrotation 31 HP:0002566
5 hyperbilirubinemia 31 HP:0002904
6 acholic stools 31 HP:0011985
7 annular pancreas 31 HP:0001734
8 duodenal atresia 31 HP:0002247
9 diarrhea 31 HP:0002014
10 jejunal atresia 31 HP:0005235
11 absent gallbladder 31 HP:0011467
12 hyperglycemia 31 HP:0003074
13 pancreatic hypoplasia 31 HP:0002594
14 biliary atresia 31 HP:0005912

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
malabsorption
intestinal malrotation
duodenal atresia
diarrhea
jejunal atresia
more
Abdomen Liver:
cholestasis

Abdomen Biliary Tract:
absent gallbladder
biliary atresia
acholia

Endocrine Features:
neonatal diabetes
diabetes, childhood-onset (in some patients)

Growth Other:
intrauterine growth retardation

Laboratory Abnormalities:
hyperbilirubinemia
hyperglycemia
low or undetectable insulin
low or undetectable c-peptide

Abdomen Pancreas:
hypoplastic or annular pancreas
absence of insulin, glucagon, and somatostatin by pancreatic immunohistochemistry

Clinical features from OMIM®:

615710 (Updated 05-Apr-2021)

UMLS symptoms related to Mitchell-Riley Syndrome:


diarrhea

Drugs & Therapeutics for Mitchell-Riley Syndrome

Search Clinical Trials , NIH Clinical Center for Mitchell-Riley Syndrome

Genetic Tests for Mitchell-Riley Syndrome

Genetic tests related to Mitchell-Riley Syndrome:

# Genetic test Affiliating Genes
1 Mitchell-Riley Syndrome 29 RFX6

Anatomical Context for Mitchell-Riley Syndrome

MalaCards organs/tissues related to Mitchell-Riley Syndrome:

40
Pancreas, Liver

Publications for Mitchell-Riley Syndrome

Articles related to Mitchell-Riley Syndrome:

(show all 21)
# Title Authors PMID Year
1
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 61 6 57
26264437 2015
2
Rfx6 directs islet formation and insulin production in mice and humans. 6 57
20148032 2010
3
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. 57 6
19887127 2010
4
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. 6 57
18512226 2008
5
Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. 6 57
15592663 2004
6
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa. 6 61
27523286 2016
7
TiGER: a database for tissue-specific gene expression and regulation. 57
18541026 2008
8
Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome. 57
17321227 2007
9
Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. 57
10528254 1999
10
Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. 57
9677074 1998
11
Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. 57
1488984 1992
12
Congenital Glucagon-like Peptide-1 Deficiency in the Pathogenesis of Protracted Diarrhea in Mitchell-Riley Syndrome. 61
33382423 2021
13
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6. 61
33033118 2020
14
[Mitchell-Riley syndrome with late onset diabetes and heterotopic gastric mucosa: a case report]. 61
31905482 2020
15
Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells while repressing genetic programs controlling serotonin production. 61
31668390 2019
16
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6. 61
31275908 2019
17
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 61
29707407 2018
18
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. 61
26761945 2016
19
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene. 61
26770845 2015
20
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome. 61
25421130 2014
21
Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes. 61
21215266 2011

Variations for Mitchell-Riley Syndrome

ClinVar genetic disease variations for Mitchell-Riley Syndrome:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RFX6 NM_173560.4(RFX6):c.380+2T>C SNV Pathogenic 496 rs587776514 GRCh37: 6:117199117-117199117
GRCh38: 6:116877954-116877954
2 RFX6 NM_173560.4(RFX6):c.672+2T>G SNV Pathogenic 498 rs587776516 GRCh37: 6:117216372-117216372
GRCh38: 6:116895209-116895209
3 RFX6 NM_173560.4(RFX6):c.649T>C (p.Ser217Pro) SNV Pathogenic 499 rs267607012 GRCh37: 6:117216347-117216347
GRCh38: 6:116895184-116895184
4 RFX6 NM_173560.4(RFX6):c.542G>A (p.Arg181Gln) SNV Pathogenic 500 rs267607013 GRCh37: 6:117203567-117203567
GRCh38: 6:116882404-116882404
5 RFX6 NM_173560.4(RFX6):c.2176C>T (p.Arg726Ter) SNV Pathogenic 223240 rs144648002 GRCh37: 6:117248480-117248480
GRCh38: 6:116927317-116927317
6 RFX6 NM_173560.4(RFX6):c.2596C>T (p.Arg866Ter) SNV Pathogenic 223241 rs749827445 GRCh37: 6:117250119-117250119
GRCh38: 6:116928956-116928956
7 RFX6 NM_173560.4(RFX6):c.779_780+12del Deletion Pathogenic 501 rs587776517 GRCh37: 6:117232201-117232214
GRCh38: 6:116911038-116911051
8 RFX6 NM_173560.4(RFX6):c.1316_1319del (p.Ile439fs) Deletion Pathogenic 587396 rs1562146029 GRCh37: 6:117241604-117241607
GRCh38: 6:116920441-116920444
9 RFX6 NM_173560.4(RFX6):c.224-12A>G SNV Pathogenic 497 rs587776515 GRCh37: 6:117198947-117198947
GRCh38: 6:116877784-116877784
10 RFX6 NM_173560.4(RFX6):c.2623C>T (p.Gln875Ter) SNV Pathogenic 1031717 GRCh37: 6:117252505-117252505
GRCh38: 6:116931342-116931342
11 RFX6 NM_173560.4(RFX6):c.2290dup (p.Gln764fs) Duplication Likely pathogenic 1031716 GRCh37: 6:117248591-117248592
GRCh38: 6:116927428-116927429
12 RFX6 NM_173560.4(RFX6):c.541C>T (p.Arg181Trp) SNV Likely pathogenic 130157 rs587780440 GRCh37: 6:117203566-117203566
GRCh38: 6:116882403-116882403
13 RFX6 NM_173560.4(RFX6):c.1154G>A (p.Arg385Gln) SNV Likely pathogenic 587395 rs1445567359 GRCh37: 6:117240431-117240431
GRCh38: 6:116919268-116919268
14 RFX6 NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu) SNV Uncertain significance 393396 rs201522681 GRCh37: 6:117250084-117250084
GRCh38: 6:116928921-116928921
15 RFX6 NM_173560.4(RFX6):c.1130G>A (p.Arg377Gln) SNV Uncertain significance 1031267 GRCh37: 6:117240407-117240407
GRCh38: 6:116919244-116919244
16 RFX6 NM_173560.4(RFX6):c.695C>T (p.Ser232Leu) SNV Uncertain significance 1031718 GRCh37: 6:117232120-117232120
GRCh38: 6:116910957-116910957

UniProtKB/Swiss-Prot genetic disease variations for Mitchell-Riley Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 RFX6 p.Arg181Gln VAR_062978 rs267607013
2 RFX6 p.Ser217Pro VAR_062979 rs267607012
3 RFX6 p.Val506Gly VAR_074215

Expression for Mitchell-Riley Syndrome

Search GEO for disease gene expression data for Mitchell-Riley Syndrome.

Pathways for Mitchell-Riley Syndrome

GO Terms for Mitchell-Riley Syndrome

Sources for Mitchell-Riley 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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