Gene Summary

Name:
pancreatic and duodenal homeobox 1
Synonyms:
Ipf1,  IDX-1,  IPF-1,  Mody4,  STF-1,  pdx-1

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
impaired glucose tolerance Pdx1tm1b(EUCOMM)Wtsi HET Early adult 2.02×10-12
preweaning lethality, complete penetrance Pdx1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 0.0% (0 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Pdx1 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.

The table below shows human diseases predicted to be associated to Pdx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Gastric Cancer
Stomach cancer OMIM:613659
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Familial Intestinal Malrotation
Intestinal malrotation, Volvulus ORPHA:508410
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay, Dehydration OMIM:251850
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... OMIM:601346
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Duodenal stenosis, Intrauterine growth retardation, Cryptorc... ORPHA:2470
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Short stature, Steatorrhea OMIM:618752
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Chylous Ascites
Pancreatitis ORPHA:1160
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Growth delay ORPHA:100025
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Dehydration OMIM:610370
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Pancreatic Agenesis-Holoprosencephaly Syndrome
Intrauterine growth retardation, Absent gallbladder, High palate, Small for gestational age, Panc... ORPHA:556955
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb... ORPHA:2985
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Absent gallbladder, Neonatal ... OMIM:618500
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... ORPHA:79230
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anal atresia, Anasarca OMIM:260450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Failure to thrive, Intestinal malrotation, Ex... ORPHA:2255
Secondary Short Bowel Syndrome
Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small intestine morphology, A... ORPHA:95427
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Intes... OMIM:615237
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Hypoglycemia OMIM:619386
17Q12 Microdeletion Syndrome
Elevated circulating hepatic transaminase concentration, Oligohydramnios, Cryptorchidism, Short s... ORPHA:261265
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Oligohydramnios, Abnormal biliary tract morphology, Abnormal liver parenc... ORPHA:3032
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Dehydration OMIM:614265
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology OMIM:211400
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Failure to thrive, Exoc... ORPHA:456312
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Dystrophic fingernails, Recurrent... ORPHA:158673
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Failure to thrive, Intrauterine growth r... OMIM:618958
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Pancreatic aplasia OMIM:609069
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... ORPHA:92050
Trichohepatoenteric Syndrome 2
Failure to thrive, Trichorrhexis nodosa, Intrauterine growth retardation, Villous atrophy, Brittl... OMIM:614602
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... ORPHA:65682
Duodenal Atresia
Polyhydramnios, Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology OMIM:613021
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Predominantly lower limb lymphedema, Alopecia, Nonimmune hydrops... OMIM:607823
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Fa... OMIM:613812
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... OMIM:600803
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Edema, Weight loss, Dehydration ORPHA:103910
Enteric Anendocrinosis
Cholestatic liver disease, Vomiting, Diarrhea, Portal hypertension, Dehydration ORPHA:83620
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... ORPHA:69663
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... OMIM:208540
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Intrauterine growth retardation, Oligohydramnios, Skin dimple, Aplasia/Hypopla... ORPHA:261304
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea OMIM:612714
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:229300
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Aplasia cutis congenita, Polyhydramnios, Flexion cont... OMIM:612138
Familial Renal Glucosuria
Moderate postnatal growth retardation, Dehydration ORPHA:69076
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... OMIM:145001
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Wolcott-Rallison Syndrome
Central hypothyroidism, Growth delay, Exocrine pancreatic insufficiency, Ascites, Abnormality of ... ORPHA:1667
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... ORPHA:30391
Oliver-Mcfarlane Syndrome
Severe short stature, Alopecia, Distal amyotrophy, Decreased response to growth hormone stimulati... OMIM:275400
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Abnormal intestine morphology, Hypothyroid... OMIM:615952
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t... OMIM:619377
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Sparse eyebrow, Skeletal muscle atrophy, Flexion contracture, Atrophic... ORPHA:75496
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Xanthomatosis, ... ORPHA:2348
Dextrocardia
Webbed neck, Preauricular skin tag, Meckel diverticulum, Abnormality of abdominal situs, Pancreat... ORPHA:1666
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Bilateral cryptorchidism, Pyloric stenosis ORPHA:314575
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Thin skin, Pyloric stenosis ORPHA:98892
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Exocrine pancreatic insu... OMIM:137920
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis OMIM:618805
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Xanthomatosis, ... ORPHA:79083
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
19Q13.11 Microdeletion Syndrome
Failure to thrive, Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Intrauterine growth r... ORPHA:217346
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Dehydration, Oligohydramnios, Portal hypertension, Hepatic... OMIM:263200
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
X-Linked Ehlers-Danlos Syndrome
Short stature, Gastroesophageal reflux, Thin skin ORPHA:75497
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Sp... ORPHA:1660
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R... ORPHA:99885
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Lymphedema, Sparse body hair, Furrowed ... ORPHA:2930
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Dehydration ORPHA:28
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Jejunoileal ulceration, Hepatitis, Intestinal malrotation, Intrauterine growt... ORPHA:436252
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Abnor... ORPHA:2315
Chronic Hiccup
Weight loss, Dehydration, Abnormality of the diaphragm ORPHA:396
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Hernia, Hiatus
Hiatus hernia OMIM:142400
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Aganglionic megacolon, Hypohidrosis, Cryptorchidism ORPHA:452
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis, Diabetic ketoacidosis ORPHA:70578
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia OMIM:251110
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Lichen Planopilaris
Alopecia, Skin ulcer, Hypopigmented skin patches, Hepatitis, Abnormal fingernail morphology, Derm... ORPHA:525
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Vomiting, Dehydration, Neonatal death OMIM:602199
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Rapp-Hodgkin Syndrome
Sparse hair, Bifid uvula, Sparse eyebrow, Velopharyngeal insufficiency, Decreased number of sweat... OMIM:129400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Acrogeria
Skin ulcer, Fine hair, Aplasia/Hypoplasia of the skin, Short stature, Thin skin ORPHA:2500
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Fine hair, Elbow flexion contracture, Intrauterine growth retardation, Cryptorc... OMIM:614438
Diarrhea 5, With Tufting Enteropathy, Congenital
Small for gestational age, Villous atrophy, Failure to thrive, Crypt hyperplasia OMIM:613217
Dermoodontodysplasia
Nail dysplasia, Trichodysplasia, Thin skin OMIM:125640
Congenital Short Bowel Syndrome
Intestinal malrotation, Sparse hair, Short stature, Intestinal hypoplasia ORPHA:2301
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Vomiting, Secretory diarrhea, Dehydration OMIM:616069
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Decreased testicular size, Intrauterine growth retardation, ... ORPHA:261483
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Elevated circulating hepatic... OMIM:615895
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intrauterine growth retarda... OMIM:243150
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp... OMIM:607626
Cystic Fibrosis
Diarrhea, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal... OMIM:219700
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Rauch-Steindl Syndrome
Exocrine pancreatic insufficiency, Postnatal growth retardation, Intrauterine growth retardation,... OMIM:619695
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Mpi-Cdg
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Failure to thrive, Dec... ORPHA:79319
Syndromic X-Linked Intellectual Disability 7
Short stature, Obesity, Cryptorchidism, Sparse body hair ORPHA:85274
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Webbed neck, Joint contracture of the hand, Cigarette-paper scars, Camptodactyly of ... OMIM:612350
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Cryptorchidism, Conge... OMIM:617602
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Comedo, Sparse eyelashes, Spar... OMIM:604379
Volvulus Of Midgut
Intestinal malrotation, Neonatal intestinal obstruction, Volvulus OMIM:193250
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse eyebro... ORPHA:189
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormal fingernail morphology, Sparse hair, Thin skin ORPHA:1810
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Failure to thrive, Decreased liver function, Cholestasis, Ascites, In... OMIM:608104
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Failure to thrive, Thenar muscle atrophy, Flexion contracture, Moderately short stature ORPHA:157965
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Aplasia/Hypoplasia of the skin, Ectopic anus, Short stature, Sacral dimple ORPHA:1643
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Xerostomia, Failure to thrive, Breast aplasia, Trichorrhexi... ORPHA:238468
Shwachman-Diamond Syndrome 2
Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High palate, ... OMIM:617941
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule ORPHA:1962
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Failure to thrive, Angioedema, Hypernatremic dehydration, Rec... OMIM:256500
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia/Hypoplasia of the nails, Absent toenail, Absent fifth fingernail, Hypoplastic toenails, A... ORPHA:79499
Bile Acid Malabsorption, Primary, 1
Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... OMIM:616263
Carnitine Deficiency, Systemic Primary
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased carni... OMIM:212140
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Bile duct proliferation, Cleft palate OMIM:603194
Cutis Laxa, Autosomal Recessive, Type Iiia
Distal amyotrophy, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Short stat... OMIM:219150
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... ORPHA:2298
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchidism, Knee... OMIM:214150
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Failure to thrive, Villous atrophy... OMIM:602579
Non-Acquired Isolated Growth Hormone Deficiency
Growth delay, Decreased muscle mass, Delayed puberty, Abdominal obesity, Prolonged neonatal jaund... ORPHA:631
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Prolidase Deficiency
Skin ulcer, Abnormal fingernail morphology, White forelock, Splenomegaly, Low anterior hairline, ... ORPHA:742
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Kondoh Syndrome
Interphalangeal joint contracture of finger, Intrauterine growth retardation, Thick eyebrow, Knee... OMIM:606242
Jejunal Atresia
Jejunal atresia OMIM:243600
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... ORPHA:1333
Propionic Acidemia
Hepatomegaly, Pancreatitis, Eczematoid dermatitis, Hypoglycemia OMIM:606054
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... ORPHA:3363
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Distichiasis, Anal atresia, Sparse hair, Absent lower eyelashes OMIM:227260
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... ORPHA:412057
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey... ORPHA:79133
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Premature graying of hair, Congenital pyloric atresia, Alopecia of scalp, C... ORPHA:2617
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope... OMIM:617294
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy, Failure to thrive OMIM:615863
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Thin skin, Medial flaring of the eyebrow, Sparse scalp hair, Fragile nails OMIM:617364
Adult Syndrome
Alopecia, Absent nipple, Toenail dysplasia, Skin ulcer, Fine hair, Breast hypoplasia, Melanocytic... ORPHA:978
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis, Parathyroid adenoma OMIM:145980
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Cirr... OMIM:269200
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Disproportionate short-limb short stature, Stillbirth, Thin skin OMIM:259410
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Shor... OMIM:601847
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Feingold Syndrome
Annular pancreas, Abnormality of the spleen, Esophageal atresia, Short stature, Duodenal atresia ORPHA:1305
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Tubulointerstitial nephritis, Hypoglycemia OMIM:251000
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Aplasia/Hypoplasia of ... ORPHA:1807
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc... OMIM:557000
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Alg6-Cdg
Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Jaundice, Macroglossia ORPHA:79320
Pearson Syndrome
Postnatal growth retardation, Hepatic steatosis, Hepatomegaly, Hypoparathyroidism, Hypoplastic sp... ORPHA:699
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis OMIM:616924
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Lymphedema, Polyhydramnios, Hydrocele testis, Synophrys OMIM:618154
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Ab... ORPHA:2028
Early-Onset Familial Hypoaldosteronism
Vomiting, Postnatal growth retardation, Decreased circulating aldosterone level, Elevated serum 1... ORPHA:556030
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Steatorrhea, Colitis, Growth delay, Edema ORPHA:309031
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation... OMIM:607361
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Growth delay, Dehydration OMIM:602722
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrin... OMIM:619004
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Breast aplasia, Dermal atrophy, Abnormal eyebrow morphology, Absent eyelashes, Short st... ORPHA:90153
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol... ORPHA:79086
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Pancreatitis, Delayed pube... OMIM:232220
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ... ORPHA:444490
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Reticular Dysgenesis
Dehydration, Weight loss, Skin ulcer, Failure to thrive ORPHA:33355
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Dehydration ORPHA:289504
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Small Bowel Atresia
Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Inte... ORPHA:1201
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Vomiting, Growth delay, Dehydration OMIM:203400
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Mandibuloacral Dysplasia
Alopecia, Contractures of the large joints, Abnormal tongue morphology, Hypoplastic fingernail, P... ORPHA:2457
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Proportionate short stature, Weight loss, Dehydration ORPHA:171876
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestas... OMIM:211600
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... ORPHA:64743
Familial Melanoma
Abnormal hair morphology, Neoplasm of the stomach, Nevus, Neoplasm of the pancreas ORPHA:618
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Pancreatitis ORPHA:135
Intussusception
Intussusception OMIM:147710
Autosomal Agammaglobulinemia
Dehydration, High palate, Hepatitis, Failure to thrive ORPHA:33110
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Striae distensae, Macronodular adrenal hyperplasia, Adrenal hyperplasia,... OMIM:219080
Fanconi Anemia, Complementation Group W
Polysplenia, Decreased response to growth hormone stimulation test, Intrauterine growth retardati... OMIM:617784
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Aplasia/Hypoplasia... ORPHA:1812
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Skeletal muscle atrophy, Striae distensae, Obesity, Hirsutism, Abdominal obesi... OMIM:219090
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Skeletal muscle hypertrophy, Hepatic steatosis, Splenomegaly, Polycyst... ORPHA:280365
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism OMIM:145981
Griscelli Syndrome
Silver-gray hair, Hepatitis, Hypopigmented skin patches, White hair, Ascites, Premature graying o... ORPHA:381
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Preauricular pit, Cryptorchidism, Sparse hair, Sacral dimple OMIM:273390
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Pericarditis ORPHA:188
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Hypopituitarism, Exocrine pancreatic insufficiency, Decreased response to ... ORPHA:811
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Oligohydramnios, Aplasia cutis congenita, High palat... OMIM:616854
Glycogen Storage Disease Ia
Hypoglycemia, Gout, Pancreatitis, Delayed puberty, Fasting hypoglycemia, Hepatomegaly, Hepatocell... OMIM:232200
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Short stature, Cryptorchidism ORPHA:281090
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying of hair, Postnatal growth ret... OMIM:612199
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Intestinal atresia, Duodenal atresia ORPHA:3405
Adult Syndrome
Absent nipple, Fair hair, Dermal atrophy, Breast hypoplasia, Alopecia of scalp, Sparse axillary h... OMIM:103285
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Webbed neck, Highly arched eyebrow, High anterior hairline, Failure to thrive, Spars... OMIM:617506
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Cryptorchidism, Hyperechogeni... OMIM:617052
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell hyperplasia, Increa... ORPHA:263455
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Failure to thrive, Postnatal growth retardati... ORPHA:83617
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Thin skin OMIM:618905
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failure OMIM:606812
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal fistula OMIM:612567
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Dysbetalipoproteinemia
Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis, Diabetes mellitus ORPHA:412
Familial Cervical Artery Dissection
Striae distensae, Facial palsy, Thin skin ORPHA:36382
Trisomy 18P
High, narrow palate, Bilateral cryptorchidism, Pyloric stenosis ORPHA:1715
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Exocrine pancreatic insufficiency, Polyhydramnios, Splen... OMIM:618268
Meckel Syndrome, Type 7
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Portal hypertension, Right v... OMIM:267010
Microvillus Inclusion Disease
Villous atrophy, Dehydration, Abnormal small intestinal villus morphology ORPHA:2290
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Ehlers-Danlos Syndrome, Periodontal Type, 1
Hiatus hernia, Atrophic scars, Intestinal perforation, Thin skin OMIM:130080
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Vomiting, Hyperaldosteronism, Pseudohypoaldosteronism, Dehydration OMIM:264350
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Pyloric stenosis OMIM:218350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Webbed neck, Preauricular skin tag, Hypertrichosis, Preauricular pit, Submucous cleft hard palate... OMIM:619227
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism ORPHA:255210
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici... OMIM:619418
Microscopic Polyangiitis
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... ORPHA:727
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... OMIM:232700
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh... OMIM:618935
Focal Dermal Hypoplasia
Abnormality of the nail, Gastroesophageal reflux, Alopecia, Camptodactyly of finger, Acute hepati... ORPHA:2092
Vipoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Abnor... ORPHA:97282
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... ORPHA:2126
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Growth delay, Dehydration OMIM:610600
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alopecia of scalp, Aplasia cuti... ORPHA:79402
Acrofacial Dysostosis Syndrome Of Rodriguez
Short stature, High palate, Deep-set nails, Thin skin OMIM:201170
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Ascites, Eosinophilia, Abnormality of the gastrointesti... ORPHA:2070
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Bifid uvula, Hepatic fibrosis, Rhizomelia, Sparse scalp hair, Failure to thrive, Fair hair, Chole... OMIM:266920
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented sk... ORPHA:2251
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Failure to thrive, Intestinal malrotation, ... OMIM:600001
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... ORPHA:549
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Milia, Congenital pyloric atresia, Nail dystrophy, Nail dysplasia, Esophageal atr... OMIM:226730
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Premature graying of hair, Portal hyp... OMIM:620367
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Cryptorchidism, High palate, Cleft palate, Pyloric stenosis ORPHA:96184
Marshall-Smith Syndrome
Generalized hirsutism, Protruding tongue, Failure to thrive, Thin skin ORPHA:561
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Failure to thrive, Dehydration OMIM:251120
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Primary adrenal insufficiency, Cryptorchidism, Decreased circulating corti... OMIM:300200
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Failure to thrive, Hypoplastic fingernail, Ascites, Portal... ORPHA:974
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussuscept