MCID: MTC096
MIFTS: 23

Mitchell-Riley Syndrome

Categories: Genetic diseases, Gastrointestinal diseases, Endocrine diseases

Aliases & Classifications for Mitchell-Riley Syndrome

MalaCards integrated aliases for Mitchell-Riley Syndrome:

Name: Mitchell-Riley Syndrome 57 75 37 29 6 40 73
Mtchrs 57 75
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 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
frequently fatal within the first year of life


HPO:

32
mitchell-riley syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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)

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

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 martinez-frias syndrome 11.2

Symptoms & Phenotypes for Mitchell-Riley Syndrome

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
malabsorption
intestinal malrotation
diarrhea
duodenal atresia
jejunal atresia
more
Abdomen Liver:
cholestasis

Abdomen Biliary Tract:
biliary atresia
absent gallbladder
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

Human phenotypes related to Mitchell-Riley Syndrome:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 32 HP:0001511
2 anteriorly placed anus 32 occasional (7.5%) HP:0001545
3 diarrhea 32 HP:0002014
4 malabsorption 32 HP:0002024
5 duodenal atresia 32 HP:0002247
6 intestinal malrotation 32 HP:0002566
7 pancreatic hypoplasia 32 HP:0002594
8 hyperbilirubinemia 32 HP:0002904
9 hyperglycemia 32 HP:0003074
10 jejunal atresia 32 HP:0005235
11 biliary atresia 32 HP:0005912
12 absent gallbladder 32 HP:0011467
13 acholic stools 32 HP:0011985

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:

41
Pancreas

Publications for Mitchell-Riley Syndrome

Articles related to Mitchell-Riley Syndrome:

# Title Authors Year
1
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa. ( 27523286 )
2016
2
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. ( 26761945 )
2015
3
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene. ( 26770845 )
2015

Variations for Mitchell-Riley Syndrome

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

75
# 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

ClinVar genetic disease variations for Mitchell-Riley Syndrome:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 RFX6 NM_173560.3(RFX6): c.779_780+12del14 deletion Pathogenic rs587776517 GRCh37 Chromosome 6, 117232204: 117232217
2 RFX6 NM_173560.3(RFX6): c.380+2T> C single nucleotide variant Pathogenic rs587776514 GRCh37 Chromosome 6, 117199117: 117199117
3 RFX6 NM_173560.3(RFX6): c.380+2T> C single nucleotide variant Pathogenic rs587776514 GRCh38 Chromosome 6, 116877954: 116877954
4 RFX6 NM_173560.3(RFX6): c.224-12A> G single nucleotide variant Pathogenic rs587776515 GRCh37 Chromosome 6, 117198947: 117198947
5 RFX6 NM_173560.3(RFX6): c.224-12A> G single nucleotide variant Pathogenic rs587776515 GRCh38 Chromosome 6, 116877784: 116877784
6 RFX6 NM_173560.3(RFX6): c.672+2T> G single nucleotide variant Pathogenic rs587776516 GRCh37 Chromosome 6, 117216372: 117216372
7 RFX6 NM_173560.3(RFX6): c.672+2T> G single nucleotide variant Pathogenic rs587776516 GRCh38 Chromosome 6, 116895209: 116895209
8 RFX6 NM_173560.3(RFX6): c.649T> C (p.Ser217Pro) single nucleotide variant Pathogenic rs267607012 GRCh37 Chromosome 6, 117216347: 117216347
9 RFX6 NM_173560.3(RFX6): c.649T> C (p.Ser217Pro) single nucleotide variant Pathogenic rs267607012 GRCh38 Chromosome 6, 116895184: 116895184
10 RFX6 NM_173560.3(RFX6): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs267607013 GRCh37 Chromosome 6, 117203567: 117203567
11 RFX6 NM_173560.3(RFX6): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs267607013 GRCh38 Chromosome 6, 116882404: 116882404
12 RFX6 NM_173560.3(RFX6): c.779_780+12del14 deletion Pathogenic rs587776517 GRCh38 Chromosome 6, 116911041: 116911054
13 RFX6 NM_173560.3(RFX6): c.541C> T (p.Arg181Trp) single nucleotide variant Likely pathogenic rs587780440 GRCh37 Chromosome 6, 117203566: 117203566
14 RFX6 NM_173560.3(RFX6): c.541C> T (p.Arg181Trp) single nucleotide variant Likely pathogenic rs587780440 GRCh38 Chromosome 6, 116882403: 116882403
15 RFX6 NM_173560.3(RFX6): c.2176C> T (p.Arg726Ter) single nucleotide variant Pathogenic rs144648002 GRCh37 Chromosome 6, 117248480: 117248480
16 RFX6 NM_173560.3(RFX6): c.2176C> T (p.Arg726Ter) single nucleotide variant Pathogenic rs144648002 GRCh38 Chromosome 6, 116927317: 116927317
17 RFX6 NM_173560.3(RFX6): c.2596C> T (p.Arg866Ter) single nucleotide variant Pathogenic rs749827445 GRCh37 Chromosome 6, 117250119: 117250119
18 RFX6 NM_173560.3(RFX6): c.2596C> T (p.Arg866Ter) single nucleotide variant Pathogenic rs749827445 GRCh38 Chromosome 6, 116928956: 116928956
19 RFX6 NM_173560.3(RFX6): c.576C> A (p.Tyr192Ter) single nucleotide variant Likely pathogenic rs781291978 GRCh37 Chromosome 6, 117215159: 117215159
20 RFX6 NM_173560.3(RFX6): c.576C> A (p.Tyr192Ter) single nucleotide variant Likely pathogenic rs781291978 GRCh38 Chromosome 6, 116893996: 116893996

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 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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