MCID: MRT009
MIFTS: 21

Martinez-Frias Syndrome

Categories: Gastrointestinal diseases, Endocrine diseases

Aliases & Classifications for Martinez-Frias Syndrome

MalaCards integrated aliases for Martinez-Frias Syndrome:

Name: Martinez-Frias Syndrome 57 13 73
Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or Without Tracheoesophageal Fistula 57 29

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
martinez-frias syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Martinez-Frias Syndrome

OMIM : 57 The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010). (601346)

MalaCards based summary : Martinez-Frias Syndrome, also known as pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula, is related to mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly and mitchell-riley syndrome. An important gene associated with Martinez-Frias Syndrome is RFX6 (Regulatory Factor X6). Affiliated tissues include pancreas, and related phenotypes are hypospadias and intrauterine growth retardation

Related Diseases for Martinez-Frias Syndrome

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

# Related Disease Score Top Affiliating Genes
1 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 11.3
2 mitchell-riley syndrome 11.3
3 frias syndrome 10.5
4 hemochromatosis, neonatal 10.2
5 diabetes mellitus 10.2
6 intestinal atresia 10.2

Graphical network of the top 20 diseases related to Martinez-Frias Syndrome:



Diseases related to Martinez-Frias Syndrome

Symptoms & Phenotypes for Martinez-Frias Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
intrauterine growth restriction

Abdomen Biliary Tract:
hypoplastic or absent gall bladder
biliary atresia

Genitourinary External Genitalia Male:
hypospadias

Abdomen Pancreas:
hypoplastic or annular pancreas

Abdomen Gastrointestinal:
duodenal and/or jejunal atresia
intestinal malrotation esophageal atresia (in some patients)
tracheoesophageal fistula (in some patients)
rectoanal atresia (rare)


Clinical features from OMIM:

601346

Human phenotypes related to Martinez-Frias Syndrome:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypospadias 32 HP:0000047
2 intrauterine growth retardation 32 HP:0001511
3 annular pancreas 32 HP:0001734
4 duodenal atresia 32 HP:0002247
5 intestinal malrotation 32 HP:0002566
6 tracheoesophageal fistula 32 HP:0002575
7 pancreatic hypoplasia 32 HP:0002594
8 hypoplasia of the gallbladder 32 HP:0005233
9 extrahepatic biliary duct atresia 32 HP:0005242
10 intestinal hypoplasia 32 HP:0005245

Drugs & Therapeutics for Martinez-Frias Syndrome

Search Clinical Trials , NIH Clinical Center for Martinez-Frias Syndrome

Genetic Tests for Martinez-Frias Syndrome

Genetic tests related to Martinez-Frias Syndrome:

# Genetic test Affiliating Genes
1 Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or Without Tracheoesophageal Fistula 29 RFX6

Anatomical Context for Martinez-Frias Syndrome

MalaCards organs/tissues related to Martinez-Frias Syndrome:

41
Pancreas

Publications for Martinez-Frias Syndrome

Articles related to Martinez-Frias Syndrome:

# Title Authors Year
1
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome. ( 25421130 )
2014
2
Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome. ( 24464842 )
2014
3
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. ( 19887127 )
2010

Variations for Martinez-Frias Syndrome

Expression for Martinez-Frias Syndrome

Search GEO for disease gene expression data for Martinez-Frias Syndrome.

Pathways for Martinez-Frias Syndrome

GO Terms for Martinez-Frias Syndrome

Sources for Martinez-Frias 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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