Gene Summary

Name:
transmembrane protein 248
Synonyms:
G430067H08Rik,  A930023A16Rik,  0610007L01Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged adrenal glands Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged duodenum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal colon morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
small spleen Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal cecum morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal spleen morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased liver weight Tmem248tm1.1(KOMP)Vlcg HOM   Early adult 4.11×10-09
female infertility Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal duodenum morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased total body fat amount Tmem248tm1.1(KOMP)Vlcg HOM Early adult 3.52×10-05
distended jejunum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased thymus weight Tmem248tm1.1(KOMP)Vlcg HOM   Early adult 5.00×10-09
increased lean body mass Tmem248tm1.1(KOMP)Vlcg HOM Early adult 2.03×10-06
abnormal seminal vesicle morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
small pancreas Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal pancreas morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged cecum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Tmem248tm1.1(KOMP)Vlcg HOM Early adult 3.85×10-10
abnormal kidney morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
small thymus Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
megacolon Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased brain weight Tmem248tm1.1(KOMP)Vlcg HOM   Early adult 2.81×10-05
abnormal jejunum morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal thymus morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased heart weight Tmem248tm1.1(KOMP)Vlcg HOM Early adult 6.37×10-05
absent pancreas Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
small seminal vesicle Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged ileum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased body length Tmem248tm1.1(KOMP)Vlcg HOM Early adult 8.15×10-09

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

60 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Tmem248 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tmem248 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of th... ORPHA:2470
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Congenital defect of the pericardium, Umbili... ORPHA:2255
Martinez-Frias Syndrome
Hypospadias, Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestin... OMIM:601346
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Jejunal... OMIM:615710
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenom... ORPHA:100025
Dextrocardia
Dextrocardia, Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia, Abnormality ... ORPHA:1666
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea, Small for gestational age OMIM:615935
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Pancreatic aplasi... ORPHA:261265
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Pancreatic cysts, Hepatic fibrosis, Splenic cyst, Congenital... OMIM:610199
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Hypospadias, Abnormality of endocrine pancreas physiology, Horseshoe kidney, Re... ORPHA:93111
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Small for gestational age, Absent gallbladder, Pancreatic aplasia, Neonatal insulin-... ORPHA:556955
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased circulating cortisol level, Diabetes mellitus, Type II diabetes me... ORPHA:189439
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic iron concentration, Pe... ORPHA:139507
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Cleft palate, Spontaneous abortion, Clitoral hypertrophy, Con... ORPHA:96181
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervica... OMIM:615830
Perlman Syndrome
High, narrow palate, Hepatomegaly, Inguinal hernia, Abnormal pancreas morphology, Cryptorchidism,... ORPHA:2849
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Hydronephrosis, Duodenal... ORPHA:210122
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, ... ORPHA:456312
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration, Ileitis OMIM:618287
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Diabetes mellitus, Pancytopenia, Bone ... ORPHA:811
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Truncus arteriosus, Pancreatic hypoplasia, Double outlet left ventricle, Aplas... OMIM:600001
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... OMIM:202110
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Ambiguous genitalia, Increased circulating ACTH level OMIM:613571
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Duodenal atresia, Partial atrioventricular canal defect, Situs inver... OMIM:619608
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Abnormal heart morphology, Anemia, Decreased liver function, Cam... OMIM:608104
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at... OMIM:617784
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Hepatic fibrosis, Asplenia, Bile duct proliferation, Hepatic cyst... OMIM:208540
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Obesit... ORPHA:552
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Micropenis, Hepatosplenomegaly, Type I diab... OMIM:602782
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Small intestine ca... ORPHA:99889
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Refractory sideroblastic anemia, Small for gestational age, Failure to th... OMIM:557000
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Osteopenia, Diabetes mellitus, Hypothyroidism, Ly... OMIM:614162
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Failure to thrive, Hyperinsuli... OMIM:602579
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Rickets, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic c... OMIM:211600
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hypoplastic colon, Hepatomegaly, Omphalocele, Hepatic fibrosis, Craniosyn... OMIM:200995
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Ventricular septal defect, Ventricular hypertrophy, Abnormal circulating ren... ORPHA:369929
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Decreased circulating ... ORPHA:90790
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Disorder Of Bile Acid Synthesis
Rickets, Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abno... ORPHA:79168
Pancreatic Agenesis 1
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... OMIM:260370
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal tricuspid valve morphology, Anemia, Intesti... ORPHA:3405
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Rickets, Failu... OMIM:607765
Primary Ciliary Dyskinesia
Asplenia, Situs inversus totalis, Abnormal heart morphology, Double outlet right ventricle, Abnor... ORPHA:244
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Zollinger-Ellison Syndrome
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... ORPHA:913
Mirage Syndrome
Hypospadias, Adrenal insufficiency, Radial club hand, Leukopenia, Anemia, Decreased testicular si... OMIM:617053
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Duodenal atresia, Leukopenia, Failure to thrive, Pelvic kidney, Decreased respo... OMIM:603467
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic ... OMIM:601847
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Hepatomegaly, B lymphocytopenia, Cleft palate, Pancreatic hypoplasia, Hydroneph... ORPHA:83617
Alg6-Cdg
Macroglossia, Failure to thrive, Abnormality of the liver, Increased circulating androgen concent... ORPHA:79320
Fryns Syndrome
Hypospadias, Omphalocele, Hydronephrosis, High palate, Cleft palate, Duodenal atresia, Aganglioni... ORPHA:2059
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Small for gestational age, Macroglossia, Splenomegaly, Hypot... OMIM:618440
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Anemia, Reduced subcutaneous adipose tissue, Diabetes m... OMIM:609069
Trigonocephaly 1
Omphalocele, Craniosynostosis, Meckel diverticulum, Long penis OMIM:190440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, High palate, Cleft palate, H... OMIM:235255
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Villous atrophy, Normocytic anemia, Iron deficiency anemia, Weight ... ORPHA:398063
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Fryns Syndrome
Hypospadias, Omphalocele, Cleft palate, Bifid scrotum, Duodenal atresia, Aplasia of the left hemi... OMIM:229850
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cor... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... OMIM:201810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, High palate, Hydronephrosis,... ORPHA:1655
Ganglioneuroma
Colorectal polyposis, Neoplasm of the adrenal gland, Functional intestinal obstruction, Abnormal ... ORPHA:251992
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... OMIM:137920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Megacystis, Intestinal malrotation, Multicystic kidney dysplasia, Neoplasm of the he... ORPHA:2241
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hypercalciuria, Polyuria OMIM:613677
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Aganglionic megacolon, Malabsorption, Ambiguous genitalia, Exocrine pa... ORPHA:452
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Duodenal atresia, Esophageal atresia, Hypogonadism, Micropenis, Trache... OMIM:300514
Feingold Syndrome 1
High palate, Duodenal atresia, Asplenia, Annular pancreas, Esophageal atresia, Accessory spleen, ... OMIM:164280
Congenital Contractural Arachnodactyly
High palate, Mitral valve prolapse, Duodenal atresia, Slender build, Arthrogryposis multiplex con... ORPHA:115
Cushing Disease
Adrenal hyperplasia, Leukocytosis, Increased urinary cortisol level, Secondary amenorrhea, Oligom... ORPHA:96253
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy OMIM:251850
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Lymphopenia, Ileal ulcer, Thrombocytopenia, Genital ulcers, Colitis OMIM:616744
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Tubulointerstitial fibrosis, Ren... OMIM:263200
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Ente... OMIM:616050
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Decreased circulating renin level, Glucocortoco... ORPHA:231580
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Cleft palate, Absent or minimally ossified vertebral bodies,... ORPHA:1190
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Campomelia, Cumming Type
Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p... ORPHA:1318
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Duodenal stenosis, Abnormal tricuspid valve morphology, Intestinal ma... ORPHA:1759
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy, Failure to thrive OMIM:615863
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Increased mean platelet volume, Intestinal pseudo-obstruction, ... OMIM:300048
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Small for gestational age OMIM:613217
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Congenital Short Bowel Syndrome
Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrota... OMIM:615237
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Omphalocele, Cleft palate, Dysplastic tricuspid valve, Duoden... OMIM:265380
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... OMIM:167800
Distal Monosomy 12Q
Pyloric stenosis, Duodenal atresia, Microglossia, Micropenis, Diabetes mellitus, Ectopic kidney, ... ORPHA:96149
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Diabetes melli... OMIM:616263
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... ORPHA:309108
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Microform Holoprosencephaly
Cleft palate, Maternal diabetes, Duodenal atresia, Ambiguous genitalia, Tetralogy of Fallot, Panh... ORPHA:280200
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Ventricular septal defect, Interface hepatitis, Hypoplasia of the thymus, Intestinal... OMIM:243150
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Mele... ORPHA:652
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Renal tubular dysfunction, Pancreatic hypoplasia, Failure to thr... ORPHA:99885
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Splenomegaly, Steatorrhea, Diabetes mellitus,... ORPHA:699
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Failure to thrive, H... OMIM:617941
Bohring-Opitz Syndrome
Ventricular septal defect, Cleft palate, Failure to thrive, Hyperechogenic pancreas, Intestinal m... OMIM:605039
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Tracheoesophageal fistu... ORPHA:93941
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, Failure t... OMIM:601095
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules, Osteopenia OMIM:619445
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Failure to thrive, Hepatitis, Cirrhosis... OMIM:614602
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Cleft palate, Duodenal atresia, Intestinal malrotatio... OMIM:243605
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Congenital Tufting Enteropathy
Villous atrophy, Failure to thrive, Weight loss, Malabsorption, Anal atresia, Abnormal small inte... ORPHA:92050
Gardner Syndrome
Adrenocortical carcinoma, Adrenocortical adenoma, Keloids, Adenomatous colonic polyposis, Small i... ORPHA:79665
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Sex reversal, Congenital diaph... ORPHA:139466
Eosinophilic Gastroenteritis
Leukocytosis, Dysphagia, Weight loss, Anemia, Malabsorption, Steatorrhea, Abnormality of the gast... ORPHA:2070
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Cleft palate, Duodenal atresia, Failure to thrive, Abnormal heart morphology, Pelvic... OMIM:247200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Neutropenia, Glomerulonephritis, Lymphadenopathy, Coombs-positive hemolytic anem... OMIM:304790
Alg1-Cdg
Nephrotic syndrome, Abnormal heart morphology, Cardiomyopathy, Decreased liver function, Renal in... ORPHA:79327
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Microgastria, Horseshoe kidney, Aganglionic megacolon, Asplenia, Failure ... OMIM:156810
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Jacobsen Syndrome
Pyloric stenosis, Ventricular septal defect, Hydronephrosis, Duodenal atresia, Ectopic anus, Annu... ORPHA:2308
Beckwith-Wiedemann Syndrome
Omphalocele, Cleft palate, Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Umbi... ORPHA:116
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splen... ORPHA:567983
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... OMIM:619377
Syndromic Diarrhea
Bicuspid aortic valve, Hypoplasia of the thymus, Splenomegaly, Gastritis, Ventricular septal defe... ORPHA:84064
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Adrenocortical adenoma, Adenomatous colonic polyposis, Gastrointestinal... ORPHA:247806
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Primary amenorrhea, Obesity, Decre... OMIM:600955
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Osteoporosis, Ambiguous genitalia, femal... ORPHA:91
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, Hydronephrosis, Cleft palate, High palate, Congenital hypoth... ORPHA:79500
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Abnormal he... OMIM:227646
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Ventricular septal defect, Rectal prolapse, Hydronephrosis, Pericardial effusio... OMIM:235510
Tetraamelia Syndrome 1
Cleft palate, Asplenia, Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tub... OMIM:273395
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Adrenocortical carcinoma, Adrenocortical cytomegaly, Omphaloc... OMIM:130650
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Duodenal atresia, Small for gestational age, Craniosynostosis, Subvalv... OMIM:614114
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Celiac disease, Primary adrenal insufficiency, Hypogonadism, Type I diabetes ... ORPHA:3143
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Villous atrophy, Neutropenia, Biliary tract abnormality, Failure to thrive, Malabsor... OMIM:209920
Vascular Hyalinosis
Chorioretinal scar, Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Hypercholanemia, Familial 1
Failure to thrive, Steatorrhea, Fat malabsorption, Rickets OMIM:607748
Gracile Bone Dysplasia
Asplenia, Failure to thrive, Decreased skull ossification, Ankyloglossia, Micropenis, Hypoplastic... OMIM:602361
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Adenomatous colon... ORPHA:733
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Arthrogryposis multiplex congenita, Ileus, Splenomegaly, Hyp... ORPHA:163746
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ankle flexion contracture, Ventricular septal defect, Hydronephrosis, Duodenal atres... ORPHA:464311
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Failure to thrive in infancy, Villous atrophy, Lymphadenopathy, T lymphocytope... OMIM:606367
Chylomicron Retention Disease
Acanthocytosis, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosis, St... ORPHA:71
Igg4-Related Thyroid Disease
Dysphagia, Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, ... ORPHA:64744
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Hydronephrosis, Urinary retention, Intestinal pse... OMIM:155310
Primary Intestinal Lymphangiectasia
Pericardial effusion, Abnormal lymphatic vessel morphology, Increased stool alpha1-antitrypsin co... ORPHA:90362
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Cleft palate, Sex reversal, Adrenal gland agenesis, Conge... OMIM:611812
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Hypospadias, Ventricular septal defect, Hydronephrosis, Duodenal atresia, Small... ORPHA:464306
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Abdominal situs inversus, Abdominal si... OMIM:270100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Ventricular septal defect, High palate, Duodenal atresia, Annular pancreas, Renal cy... OMIM:616975
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Juvenile Polyposis Of Infancy
High, narrow palate, Freckled genitalia, Rectal prolapse, Cachexia, Adenomatous colonic polyposis... ORPHA:79076
Esophageal Atresia
Pyloric stenosis, Omphalocele, Ventricular septal defect, Cleft palate, Dysphagia, Duodenal atres... ORPHA:1199
Diets-Jongmans Syndrome
Hypospadias, Ventricular septal defect, Duodenal atresia, Congenital diaphragmatic hernia, Inguin... OMIM:618846
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cleft palate, Duodenal atresia, Stomach cancer, Subvalvular aortic ... ORPHA:1052
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Microglossia, Int... OMIM:263520
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Solitary Rectal Ulcer Syndrome
Rectal prolapse, Stercoral ulcer, Anemia, Anal fissure, Decreased body weight, Hematochezia ORPHA:209964
Trisomy 8P
Hydronephrosis, Cleft palate, Dysplastic aortic valve, Annular pancreas, Nephrocalcinosis, Aplasi... ORPHA:264450
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Inguinal hernia, Anal atresia OMIM:235760
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Ventricular septal defect, Peritoneal abscess, Hypoplasia of the thymus, Gastrointes... ORPHA:436252
Microphthalmia, Syndromic 9
Horseshoe kidney, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Renal h... OMIM:601186
Colonic Atresia
Omphalocele, Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Co... ORPHA:1198
Duodenal Atresia
Duodenal atresia OMIM:223400
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intestinal obstruction, Arthrogr... OMIM:243180
Jacobsen Syndrome
Pyloric stenosis, Hypospadias, Ventricular septal defect, Annular pancreas, Labial hypoplasia, Fa... OMIM:147791
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glossitis, Hamartomatous... OMIM:175500
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ... ORPHA:3386
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Duodenal atresia, Tricuspid stenosis, Abnorm... ORPHA:391641
Scleroderma
Myocarditis, Pericarditis, Abnormality of the small intestine, Abnormal large intestine morpholog... ORPHA:801
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Esophageal atresia, Unilateral renal agenesis, Tracheoesophageal fistula, Muscu... OMIM:619227
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Xerostomia, Abnormal pancreas morph... ORPHA:449432
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... OMIM:614700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis, Intestinal malrotation, Hepatic failure, Portal hyperten... OMIM:619431
Focal Dermal Hypoplasia
Omphalocele, Ventricular septal defect, Horseshoe kidney, Hydronephrosis, Duodenal atresia, Conge... ORPHA:2092
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Annular pancreas, Knee flexion contracture, Atrial septal defect, Sclerosis of skull... OMIM:618162
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Secondary amenorrhea, Inflammation of the large intestine, Reduced bone mi... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Secondary amenorrhea, Inflammation of the large intestine, Reduced bone mi... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Secondary amenorrhea, Inflammation of the large intestine, Reduced bone mi... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Secondary amenorrhea, Inflammation of the large intestine, Reduced bone mi... ORPHA:99226
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Precocious puberty with Sertoli cell tumor, Biliary t... OMIM:175200
Mungan Syndrome
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Perimembranous ventricular septal ... OMIM:611376
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Ventricular septal defect, Renal hypoplasia, Bifid scrotum, Duodenal... OMIM:107480
Fg Syndrome Type 1
Pyloric stenosis, Hypospadias, High palate, Mitral valve prolapse, Abnormal large intestine morph... ORPHA:93932
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Ankle flexion contracture, Duodenal atresia, Pelvic kidney, Craniosynostosis, Knee f... ORPHA:468631
Whim Syndrome
Neutropenia, Abnormality of the small intestine, Cervix cancer, Lymphadenitis, Parotitis, Tetralo... ORPHA:51636
Meier-Gorlin Syndrome 7
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Cleft palate, Hig... OMIM:617063
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, H... ORPHA:391487
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Meckel diverticulum, Morphological abnormality of the gastrointestinal tra... ORPHA:2847
Meckel Syndrome
Ureteral duplication, Cleft palate, True hermaphroditism, Pancreatic cysts, Asplenia, Cystic live... ORPHA:564
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum, Failure to thrive, Ventricular hypertrophy, Cryptorchidism, Patent foramen o... OMIM:602613
1P36 Deletion Syndrome
Dilated cardiomyopathy, Pyloric stenosis, Abnormal intestine morphology, Hypospadias, Camptodacty... ORPHA:1606
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Anemia, Malabsorption, Abnormality of the pancreas, Reduced bone mineral d... ORPHA:935
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ... OMIM:110100
Mckusick-Kaufman Syndrome
Ventricular septal defect, Cleft palate, High palate, Aganglionic megacolon, Ectopic anus, Hydron... ORPHA:2473
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Protein-losing enteropathy, Hematochezia ORPHA:103910
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula, Inguinal hernia, Bladder diverticulum, Femoral hernia OMIM:223330
Systemic Sclerosis
Myocarditis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney disease, Barrett es... ORPHA:90291
Trichohepatoenteric Syndrome 1
Hypospadias, Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Villous atr... OMIM:222470
Charge Syndrome
Omphalocele, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Micropenis, Overriding a... OMIM:214800
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, High palate, Abnormality of mesentery morphology,... ORPHA:2953
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, U... ORPHA:220460
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Cleft palate, Abn... OMIM:236680
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hepatic cysts, Colonic diverticula, Polycystic kidney dysplasia, Renal ins... OMIM:173900
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Netherton Syndrome
Abnormal intestine morphology, Villous atrophy, Failure to thrive, Hypereosinophilia, Intestinal ... OMIM:256500
Familial Visceral Myopathy
Aganglionic megacolon, Abdominal situs inversus, Cleft palate, Megacystis, Hyperparathyroidism, C... ORPHA:2604
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Joint contra... OMIM:601110
Hypoplasminogenemia
Duodenal ulcer, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Ce... ORPHA:722
Bardet-Biedl Syndrome 1
High, narrow palate, Abnormality of the ovary, Aganglionic megacolon, High palate, Hepatic fibros... OMIM:209900
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Villous atrophy, Reduced natural killer cell count, Decreased propo... OMIM:619510
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Fanconi Anemia
Hypospadias, Cleft palate, Duodenal stenosis, Abnormality of the hypothalamus-pituitary axis, Red... ORPHA:84
Abetalipoproteinemia
Acanthocytosis, Fat malabsorption OMIM:200100
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Incr... OMIM:171400
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hypergastrinemia OMIM:126840
Lipodystrophy, Congenital Generalized, Type 2
Splenomegaly, Acute pancreatitis, Umbilical hernia, Hypertrophic cardiomyopathy, Labial hypertrop... OMIM:269700
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Adrenocortical adenoma, Keloids, Adenomatous colonic polyposis, Small i... OMIM:175100
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Distal arthrogryposis, Hydronephrosis, Cleft palate, High palate, Scarring, Nephrotic syndrome, A... OMIM:601776
Cog8-Cdg
Elevated hepatic transaminase, Protein-losing enteropathy, Failure to thrive ORPHA:95428
Rothmund-Thomson Syndrome, Type 2
High palate, Small for gestational age, Annular pancreas, Osteoporosis, Hypogonadism, Anteriorly ... OMIM:268400
Juvenile Polyposis Syndrome
Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Small intestinal p... ORPHA:2929
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Thyroiditis, Jejunoileal diverticula, Ulcerative colitis OMIM:223320
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Hypothyroidism, Cryptorchidism, Polyuria, Protein-losing enteropathy, Hemat... OMIM:618183
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Steatorrhea, Malabsorption ORPHA:3217
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Premature ovarian insufficiency OMIM:619518
Kaposiform Lymphangiomatosis
Pancreatic cysts, Pericardial effusion, Abnormal lymphatic vessel morphology, Lymphangioma, Abnor... ORPHA:464329
Alveolar Echinococcosis
Cholangitis, Bone cyst, Eosinophilia, Pancreatic cysts, Abnormality of mesentery morphology, Hepa... ORPHA:284
Congenital Tracheal Stenosis
Ventricular septal defect, Meckel diverticulum, Abnormality of the ureter, Duodenal atresia, Morp... ORPHA:141127
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Villous atrophy, Duodenitis OMIM:614328
Lipodystrophy, Congenital Generalized, Type 1
Splenomegaly, Acute pancreatitis, Umbilical hernia, Labial hypertrophy, Reduced intraabdominal ad... OMIM:608594
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Failure to thrive in infancy, Aganglionic megacolon, High palate, Elevated u... OMIM:162300
Down Syndrome
Complete atrioventricular canal defect, Aganglionic megacolon, Duodenal stenosis, Macroglossia, A... OMIM:190685
Zygomycosis
Myocarditis, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Melena, Osteolysis, Gastritis,... ORPHA:73263
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum, Small for gestational age, Urinary incontinence, Obesity ORPHA:777
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, Failure to thrive, Tongue nodules, Glossoptosis, ... ORPHA:2886
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Bil... OMIM:267010
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Cleft palate, Increased fecal calprotectin level, Hemolytic anemia, Autoi... OMIM:619573
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Tubulointerstitial nephritis, Atrophic gastritis, Celiac disease, Xerostomia, ... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Macrocytic anemia, Tubulointerstitial nephritis, Atrophic gastriti... ORPHA:227982
Schinzel-Giedion Syndrome
Hypospadias, Micropenis, Camptodactyly, Umbilical hernia, Aganglionic megacolon, High palate, Abn... ORPHA:798
Microvillus Inclusion Disease
Abnormal renal physiology, Villous atrophy, Abnormality of small intestinal villus morphology, Ne... ORPHA:2290
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Diphallia
Hypospadias, Horseshoe kidney, Ureteral duplication, Bifid scrotum, Penoscrotal transposition, Ab... ORPHA:227
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Rectal prolapse, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia,... ORPHA:90038
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Scedosporiosis
Abnormal jejunum morphology, Pericarditis, Diabetes mellitus, Endocarditis ORPHA:449280
Alg9-Cdg
Omphalocele, Hypoplastic nipples, Abnormal left ventricular outflow tract morphology, Ventricular... ORPHA:79328
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Elevated urinary epinephrine, Elevated urinary catecholamines, Primary hyper... ORPHA:653
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, B lymphocytopenia, Decreased proportion of naive T cells, Villous atrophy, Lympha... OMIM:619381
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Cystic Fibrosis
Cor pulmonale, Hepatomegaly, Rectal prolapse, Failure to thrive, Pancreatitis, Cirrhosis, Hepatos... OMIM:219700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Anuria, Megacystis, Ileal atresia, Pyelonephritis, Microcolon OMIM:619351
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Aplasia of the uterus, Ventricular septal defect, Meckel diverticulum, Pancreatic c... OMIM:274000
Aceruloplasminemia
Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractory anemia, Diabetes m... ORPHA:48818
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Reduced bone mineral densit... ORPHA:90796
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Cleft palate, Duodenal atresia, Double outlet right ventricle, Median ... OMIM:301043
Abetalipoproteinemia
Hepatomegaly, Hepatic fibrosis, Acanthocytosis, Failure to thrive, Cardiomegaly, Anemia, Osteopen... ORPHA:14
Plasminogen Deficiency, Type I
Duodenal ulcer, Nephritis, Nephrolithiasis OMIM:217090
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Early ossification of capital femoral epiphyses, Bile duct pr... OMIM:208500
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Acanthocytosis, Type I diabetes mellitus, Abnormal erythrocyte morphology, De... ORPHA:96180
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral valve calcification, Mitral s... OMIM:185069
Bohring-Opitz Syndrome
Cleft palate, Urinary retention, Annular pancreas, Cardiomegaly, Cholelithiasis, Severe failure t... ORPHA:97297
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Ventricular septal defect, Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Adenomatous colonic polyposis, Iron deficiency anemia, Desmoid tumors, Hepatoblastom... ORPHA:261584
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell ad... ORPHA:730
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Cleft palate, Abnormality of the small intestine, Abnormal heart m... OMIM:219000
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Hip contracture, Annular pancreas, Knee flexion contracture, Ankyloglossia ORPHA:488642
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Thyroid carcinoma, Abnormal large intestine morphology, Neoplasm of the adrenal cortex,... ORPHA:109
Mckusick-Kaufman Syndrome
Hydronephrosis, Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:236700
Restrictive Dermopathy
Dextrocardia, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Ureteral duplication,... ORPHA:1662
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Microcolon, Megacystis OMIM:619362
Mosaic Trisomy 16
Hypospadias, Horseshoe kidney, Ventricular septal defect, Meckel diverticulum, Maternal diabetes,... ORPHA:1708
Orofaciodigital Syndrome I
Cleft palate, High palate, Pancreatic cysts, Hepatic fibrosis, Abnormal heart morphology, Tongue ... OMIM:311200
Iniencephaly
Omphalocele, Duodenal atresia, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenit... ORPHA:63259
Coffin-Siris Syndrome 1
Hypospadias, Duodenal ulcer, Ventricular septal defect, Cleft palate, High palate, Gastric ulcer,... OMIM:135900
Yellow Fever
Leukocytosis, Anuria, Elevated circulating aspartate aminotransferase concentration, Elevated cir... ORPHA:99829
Senior-Loken Syndrome 8
Nephronophthisis, Hepatic cysts, Pancreatic cysts OMIM:616307
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Cleft palate, Splenomegaly, Umbilical hernia, Supernumerary nipple, Ventricular sept... OMIM:312870
Waardenburg Syndrome, Type 4C
Hypogonadism, Cryptorchidism, Aganglionic megacolon, Lacrimal gland hypoplasia OMIM:613266
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Pyelonephritis, Hernia, Urethral diverticulum, Small bowel diverticula, Multipl... ORPHA:90349
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Microcolon
Microcolon OMIM:251400
Von Hippel-Lindau Syndrome
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Paraganglioma, Papillary cystadenoma of... OMIM:193300
Wolf-Hirschhorn Syndrome
Hypospadias, Ventricular septal defect, Cleft palate, Aplasia of the uterus, Small for gestationa... OMIM:194190
Orofaciodigital Syndrome Type 1
Hydronephrosis, High palate, Cleft palate, Pancreatic cysts, Hamartoma of tongue, Tongue nodules,... ORPHA:2750
Von Hippel-Lindau Disease
Myocarditis, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Pancreatic endocrine tumor,... ORPHA:892
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease,... OMIM:613159
Autosomal Dominant Cutis Laxa
Pyelonephritis, Hernia, Osteopenia, Small bowel diverticula, Dilatation of the ventricular cavity... ORPHA:90348
Viss Syndrome
Submucous cleft soft palate, Umbilical hernia, Ventricular septal defect, High palate, Celiac dis... OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tmem248

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tmem248.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Tmem248tm1(KOMP)Vlcg PMC4739719

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MGI Allele Allele Type Produced
Tmem248tm376746(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmem248tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Tmem248tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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