MCID: MRT009
MIFTS: 20

Martinez-Frias Syndrome

Categories: Endocrine diseases, Gastrointestinal diseases

Aliases & Classifications for Martinez-Frias Syndrome

MalaCards integrated aliases for Martinez-Frias Syndrome:

Name: Martinez-Frias Syndrome 58 13 74
Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or Without Tracheoesophageal Fistula 58 30

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
martinez-frias syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Martinez-Frias Syndrome

OMIM : 58 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. Affiliated tissues include pancreas, and related phenotypes are intrauterine growth retardation and hypospadias

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 11.5
2 mitchell-riley syndrome 11.4
3 frias syndrome 10.6
4 hemochromatosis, neonatal 10.4
5 diabetes mellitus 10.4
6 intestinal atresia 10.4

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



Diseases related to Martinez-Frias Syndrome

Symptoms & Phenotypes for Martinez-Frias Syndrome

Human phenotypes related to Martinez-Frias Syndrome:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 33 HP:0001511
2 hypospadias 33 HP:0000047
3 intestinal malrotation 33 HP:0002566
4 tracheoesophageal fistula 33 HP:0002575
5 intestinal hypoplasia 33 HP:0005245
6 annular pancreas 33 HP:0001734
7 duodenal atresia 33 HP:0002247
8 jejunal atresia 33 HP:0005235
9 extrahepatic biliary duct atresia 33 HP:0005242
10 pancreatic hypoplasia 33 HP:0002594
11 hypoplasia of the gallbladder 33 HP:0005233

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
hypospadias

Growth Other:
intrauterine growth restriction

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

Abdomen Biliary Tract:
biliary atresia
hypoplastic or absent gall bladder

Abdomen Pancreas:
hypoplastic or annular pancreas

Clinical features from OMIM:

601346

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 30

Anatomical Context for Martinez-Frias Syndrome

MalaCards organs/tissues related to Martinez-Frias Syndrome:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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