Phenotypic Series - PS214700 - OMIM

Phenotypic Series - PS214700


Diarrhea, congenital - PS214700 - 13 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1p13.2 Diarrhea 9 AR 3 618168 WNT2B 601968
2p21 Diarrhea 5, with tufting enteropathy, congenital AR 3 613217 EPCAM 185535
5p15.33 Diarrhea 8, secretory sodium, congenital AR 3 616868 SLC9A3 182307
7q22.3-q31.1 Diarrhea 1, secretory chloride, congenital AR 3 214700 SLC26A3 126650
8q24.3 Diarrhea 7, protein-losing enteropathy type AR 3 615863 DGAT1 604900
10q22.1 Diarrhea 4, malabsorptive, congenital AR 3 610370 NEUROG3 604882
10q25.2 ?Diarrhea 13 AR 3 620357 ACSL5 605677
11q12.1 Diarrhea 12, with microvillus atrophy AR 3 619445 STX3 600876
12p12.3 Diarrhea 6 AD 3 614616 GUCY2C 601330
16p13.3 Diarrhea 11, malabsorptive, congenital AR 3 618662 PERCC1 618656
18q21.1 Diarrhea 2, with microvillus atrophy, with or without cholestasis AR 3 251850 MYO5B 606540
19p13.11 Diarrhea 10, protein-losing enteropathy type AR 3 618183 PLVAP 607647
19q13.2 Diarrhea 3, secretory sodium, congenital, syndromic AR 3 270420 SPINT2 605124



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.

Phenotypic Series - PS214700


Diarrhea, congenital - PS214700 - 13 Entries

Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p13.2 Diarrhea 9 AR 3 618168 WNT2B 601968
2p21 Diarrhea 5, with tufting enteropathy, congenital AR 3 613217 EPCAM 185535
5p15.33 Diarrhea 8, secretory sodium, congenital AR 3 616868 SLC9A3 182307
7q22.3-q31.1 Diarrhea 1, secretory chloride, congenital AR 3 214700 SLC26A3 126650
8q24.3 Diarrhea 7, protein-losing enteropathy type AR 3 615863 DGAT1 604900
10q22.1 Diarrhea 4, malabsorptive, congenital AR 3 610370 NEUROG3 604882
10q25.2 ?Diarrhea 13 AR 3 620357 ACSL5 605677
11q12.1 Diarrhea 12, with microvillus atrophy AR 3 619445 STX3 600876
12p12.3 Diarrhea 6 AD 3 614616 GUCY2C 601330
16p13.3 Diarrhea 11, malabsorptive, congenital AR 3 618662 PERCC1 618656
18q21.1 Diarrhea 2, with microvillus atrophy, with or without cholestasis AR 3 251850 MYO5B 606540
19p13.11 Diarrhea 10, protein-losing enteropathy type AR 3 618183 PLVAP 607647
19q13.2 Diarrhea 3, secretory sodium, congenital, syndromic AR 3 270420 SPINT2 605124



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.


Inheritance Abbreviations
?AD ?Autosomal dominant
?XLR ?X-linked recessive
AD Autosomal dominant
AR Autosomal recessive
PD Pseudoautosomal dominant
PR Pseudoautosomal recessive
DD Digenic dominant
DR Digenic recessive
ICB Inherited chromosomal imbalance
IC Isolated cases
Mi Mitochondrial
Mu Multifactorial
SMo Somatic mosaicism
SMu Somatic mutation
XL X-linked
XLD X-linked dominant
XLR X-linked recessive
YL Y-linked


NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024