Gene Summary

Name:
somatostatin
Synonyms:
Smst,  preprosomatostatin,  SRIF,  SOM

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
increased circulating serum albumin level Ssttm1b(KOMP)Wtsi HOM Early adult 3.02×10-12
decreased lean body mass Ssttm1b(KOMP)Wtsi HOM Early adult 2.53×10-07
increased total body fat amount Ssttm1b(KOMP)Wtsi HOM Early adult 9.16×10-17
decreased circulating alkaline phosphatase level Ssttm1b(KOMP)Wtsi HOM Early adult 4.87×10-06
increased circulating iron level Ssttm1b(KOMP)Wtsi HOM Early adult 6.46×10-10
decreased bone mineral content Ssttm1b(KOMP)Wtsi HOM Early adult 5.41×10-06

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  Wholemount images heterozygote Ambiguous
Adrenal gland  Wholemount images homozygote Ambiguous
Bone  Wholemount images heterozygote Ambiguous
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images homozygote 100% (2 of 2)
Cecum  Wholemount images heterozygote 100% (4 of 4)
Cecum  Wholemount images homozygote 100% (2 of 2)
Chest bone  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images homozygote Ambiguous
Duodenum  Wholemount images heterozygote 100% (4 of 4)
Duodenum  Wholemount images homozygote 100% (2 of 2)
Epididymis  Wholemount images heterozygote Not available
Epididymis  Wholemount images homozygote Not available
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images homozygote Ambiguous
Ileum  Wholemount images heterozygote 100% (4 of 4)
Ileum  Wholemount images homozygote 100% (2 of 2)
Jejunum  Wholemount images heterozygote 100% (4 of 4)
Jejunum  Wholemount images homozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images homozygote Ambiguous
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images homozygote 100% (2 of 2)
Liver  Wholemount images heterozygote Ambiguous
Liver  Wholemount images homozygote Ambiguous
Lung  Wholemount images heterozygote Ambiguous
Lung  Wholemount images homozygote Ambiguous
Lymph node  Wholemount images heterozygote Ambiguous
Lymph node  Wholemount images homozygote Ambiguous
Main olfactory bulb  Wholemount images heterozygote 100% (4 of 4)
Main olfactory bulb  Wholemount images homozygote 100% (2 of 2)
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Ovary  Wholemount images homozygote Not available
Oviduct  Wholemount images heterozygote Not available
Oviduct  Wholemount images homozygote Not available
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Pancreas  Wholemount images homozygote 100% (2 of 2)
Parotid gland  Wholemount images heterozygote Ambiguous
Parotid gland  Wholemount images homozygote Ambiguous
Pituitary gland  Wholemount images heterozygote Not available
Pituitary gland  Wholemount images homozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote Not available
Prostate gland  Wholemount images homozygote Not available
Skin  Wholemount images heterozygote Ambiguous
Skin  Wholemount images homozygote Ambiguous
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote Ambiguous
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images heterozygote 100% (4 of 4)
Stomach  Wholemount images homozygote 100% (2 of 2)
Sublingual gland  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images homozygote Ambiguous
Submandibular gland  Wholemount images heterozygote Ambiguous
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images homozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote Ambiguous
Thymus  Wholemount images homozygote Ambiguous
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Tongue  Wholemount images homozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 0.0% (0 of 4)
Trachea  Wholemount images homozygote Ambiguous
Trigeminal V nerve  Wholemount images heterozygote 0.0% (0 of 4)
Trigeminal V nerve  Wholemount images homozygote 0.0% (0 of 2)
Urinary bladder  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images homozygote Ambiguous
Uterus  Wholemount images heterozygote Not available
Uterus  Wholemount images homozygote Not available
Vagina  Wholemount images heterozygote 50% (2 of 4)
Vagina  Wholemount images homozygote 50% (1 of 2)
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
Aorta N/A heterozygote 0.0% (0 of 4)
Aorta N/A homozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 100% (4 of 4)
Brainstem N/A homozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote Ambiguous
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebellum N/A homozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A homozygote 100% (2 of 2)
Colon N/A heterozygote 100% (4 of 4)
Colon N/A homozygote 100% (2 of 2)
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Diaphragm N/A homozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 4)
Esophagus N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote 0.0% (0 of 2)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Heart N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (4 of 4)
Hippocampus N/A homozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (4 of 4)
Hypothalamus N/A homozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lower urinary tract N/A homozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A homozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (4 of 4)
Midbrain N/A homozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A homozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A homozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 4)
Penis N/A homozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A homozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A homozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A homozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A homozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A homozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (4 of 4)
Small intestine N/A homozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (4 of 4)
Striatum N/A homozygote 100% (2 of 2)
Thalamus N/A heterozygote 100% (4 of 4)
Thalamus N/A homozygote 100% (2 of 2)
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
Vascular system N/A homozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A homozygote 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
Embryo N/A heterozygote 100% (12 of 12)
Head N/A heterozygote 100% (12 of 12)
Brain N/A heterozygote 0.0% (0 of 12)
Ear N/A heterozygote 0.0% (0 of 12)
Eye N/A heterozygote 0.0% (0 of 12)
Footplate N/A heterozygote 0.0% (0 of 12)
Forearm N/A heterozygote 0.0% (0 of 12)
Forebrain N/A heterozygote 0.0% (0 of 12)
Forelimb N/A heterozygote 0.0% (0 of 12)
Handplate N/A heterozygote 0.0% (0 of 12)
Heart N/A heterozygote 0.0% (0 of 12)
Hindbrain N/A heterozygote 0.0% (0 of 12)
Hindlimb N/A heterozygote 0.0% (0 of 12)
Liver N/A heterozygote 0.0% (0 of 12)
Lower leg N/A heterozygote 0.0% (0 of 12)
Lung N/A heterozygote 0.0% (0 of 12)
Mandibular process N/A heterozygote 66.67% (8 of 12)
Maxillary process N/A heterozygote 0.0% (0 of 12)
Midbrain N/A heterozygote 0.0% (0 of 12)
Oral cavity N/A heterozygote 0.0% (0 of 12)
Skin N/A heterozygote 0.0% (0 of 12)
Tail somite N/A heterozygote 0.0% (0 of 12)
Tail N/A heterozygote 0.0% (0 of 12)
Upper arm N/A heterozygote 0.0% (0 of 12)
Upper leg N/A heterozygote 0.0% (0 of 12)

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)
bone 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)
cranium
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)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
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)
thalamus 0.0%
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%

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)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

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 Wholemount

341 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

25 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Sst 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 Sst by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps OMIM:175505
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Gastric Cancer
Stomach cancer OMIM:613659
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Familial Adenomatous Polyposis 4
Stomach cancer OMIM:617100
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test OMIM:173100
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:618157
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Elevated circulating follicle sti... OMIM:618723
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... ORPHA:95619
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Stomach cancer OMIM:137215
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Pituicytoma
Increased circulating prolactin concentration, Hypogonadotropic hypogonadism, Pituitary hypothyro... ORPHA:251623
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty, Microcephaly OMIM:616033
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhidrosis, Excess... ORPHA:324575
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Polycystic ovaries, Pancreatitis, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Decreased response to growth hormone stimulation test, Anterior hypopituitarism OMIM:208080
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhidrosis, Excess... ORPHA:276580
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Vomiting, Naus... ORPHA:2494
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Microcephaly OMIM:618160
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Gonadotropin defici... OMIM:609734
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancreatic islet hy... ORPHA:276575
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... ORPHA:231720
Ovarian Dysgenesis 1
Increased circulating gonadotropin level OMIM:233300
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Microcephaly, Cerebral calcification ORPHA:1261
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Increased serum testosterone level, Adrenocorticotropic hormone deficie... ORPHA:91348
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Polyc... ORPHA:280356
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior pituitar... OMIM:221750
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... ORPHA:99832
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Premature Ovarian Failure 8
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615723
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL chole... OMIM:246700
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Increased circulating... OMIM:610600
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypogonadism-Cataract Syndrome
Hypogonadism, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic ... OMIM:614963
46,Xy Sex Reversal 11
Vanishing testis, Decreased antimullerian hormone level, Elevated circulating follicle stimulatin... OMIM:273250
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619203
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Hyperinsulinism Due To Ucp2 Deficiency
Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hy... ORPHA:276556
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Increased circulating gonadotropin level ORPHA:399805
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Microcephaly OMIM:619489
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma, Pituitary ad... OMIM:102200
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Cerebral calcification OMIM:225755
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Hernia, Hiatus
Hiatus hernia OMIM:142400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism, De... ORPHA:3085
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
Pituitary Apoplexy
Increased circulating prolactin concentration, Hypoglycemia, Hypergonadotropic hypogonadism, Incr... ORPHA:95613
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Hypopituitarism, Central diabet... ORPHA:91354
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Osteoporosis, Elev... ORPHA:79230
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test OMIM:245590
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Gangliocytoma
Abnormal prolactin level, Abnormality of the pituitary gland, Pituitary prolactin cell adenoma, H... ORPHA:251937
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Ectopic posterior pi... ORPHA:67045
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... ORPHA:90695
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Diarrhea, Hematochezia ORPHA:160148
Glucocorticoid Deficiency 5
Abnormal response to ACTH stimulation test, Decreased circulating cortisol level OMIM:617825
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Hypothyroidism,... OMIM:612885
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Delayed pub... OMIM:275400
Septooptic Dysplasia
Diabetes insipidus, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased response t... OMIM:182230
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163976
Acth Deficiency, Isolated
Adrenal hypoplasia, Fasting hypoglycemia, Adrenocorticotropic hormone deficiency, Decreased circu... OMIM:201400
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Hyperi... OMIM:604367
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Perlman Syndrome
Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Sheehan Syndrome
Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decreased circulat... ORPHA:91355
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Precocious puberty i... ORPHA:90793
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hy... ORPHA:398063
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic ... ORPHA:226307
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Cerebral atrophy, Hyperinsulinemia, Insulin resistance ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Cerebral atrophy OMIM:616430
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610489
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology ORPHA:281090
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Increased circulating ferritin concentration, Elevated circulating C-reactive ... OMIM:616050
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Fasting hypoglycemia, Typ... ORPHA:2298
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Increased circulating gonadotropin level ORPHA:399808
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Alg6-Cdg
Decreased LDL cholesterol concentration, Failure to thrive, Hypoalbuminemia ORPHA:79320
Central Precocious Puberty
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... ORPHA:759
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... OMIM:300869
Mehmo Syndrome
Hypoglycemia, Male hypogonadism, Decreased response to growth hormone stimulation test, Hypoplasi... OMIM:300148
Galactokinase Deficiency
Hypoglycemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulinemia, ... ORPHA:79237
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Premature Ovarian Failure 6
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... OMIM:612310
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, Congenital shortened small intestine, ... OMIM:300048
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Camptodactyly, Hypoalbuminemia OMIM:608104
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Hypoglycemia, Agenesis of corpus callosum, Septo-optic dysplasia, Hypog... ORPHA:95494
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Increased circulating gonadotropin level, Male hypogona... ORPHA:163971
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Postp... OMIM:246200
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis OMIM:226700
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Reynolds Syndrome
Xerostomia, Dysphagia, Gastroesophageal reflux, Abnormal gastric mucosa morphology ORPHA:779
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating... ORPHA:90301
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... OMIM:174900
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypothalamic hypothyroidism, Hypo... ORPHA:2495
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Duodenal polyposis, Sma... ORPHA:329971
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Polycystic ovaries, Diabetes mellitus, Hyperin... ORPHA:528
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia, Cryptorchidism, Decreased response to growth h... ORPHA:254516
Eosinophilic Gastroenteritis
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... ORPHA:88618
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Alstrom Syndrome
Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodular goiter, Hypothyroidism, Hyp... OMIM:203800
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test, Microcephaly OMIM:216100
Hemochromatosis, Type 3
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:604250
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Microcephaly OMIM:615286
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Striatal T2 hyperintensity, Dec... ORPHA:289494
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Abnormal cerebral white matter morph... ORPHA:261534
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenal hypoplasia OMIM:614732
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... OMIM:610755
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Insulin resistance ORPHA:2457
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Anterior hypopit... OMIM:602152
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, A... ORPHA:220460
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hypogonadism, Hyper... ORPHA:3464
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Perrault Syndrome 1
Increased circulating gonadotropin level OMIM:233400
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Failure to thrive, Abnormal subcutaneous fat tissue distribution, Osteopenia... OMIM:212065
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Streak ovary, Decreased serum estradiol, Increased circulating gonadotropi... ORPHA:168563
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating follicle stimulating hormone level, Absence of secondary sex characteristics... ORPHA:90796
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Failure to thrive, Decreased serum iron, Abnormal circulating selenium conc... ORPHA:89842
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Flexion contracture, Hypoalbuminemia ORPHA:367
Hemochromatosis, Type 2A
Increased serum iron, Increased circulating ferritin concentration OMIM:602390
Frasier Syndrome
Decreased serum estradiol, Hypergonadotropic hypogonadism, Streak ovary, Increased circulating go... ORPHA:347
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypoglycemia, Adenoma sebaceum, Increased circulating cortisol level, Ins... OMIM:131100
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Decreased body weight ORPHA:1667
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Delayed puberty, Bilat... ORPHA:99429
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Cerebral calcificat... ORPHA:79444
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:1263
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Fasting hyperinsu... ORPHA:71212
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Acute pancreatitis, ... ORPHA:79086
Myotonic Dystrophy 2
Hypogonadism, Insulin insensitivity, Diabetes mellitus, Elevated circulating follicle stimulating... OMIM:602668
Webb-Dattani Syndrome
Diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypothyroidi... OMIM:615926
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration, Abnormal circulating copper concen... OMIM:121270
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Absence of secondary sex characteristics, Increased circulating go... ORPHA:755
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Elevated circulating luteinizing hormone level, Elevate... OMIM:400044
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
46,Xx Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Premature ovar... ORPHA:243
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... ORPHA:3044
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Hyperinsulinemia... OMIM:176270
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... ORPHA:2965
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypergonadotropic h... OMIM:606407
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed puberty... ORPHA:280679
Beta-Thalassemia
Abnormality of iron homeostasis, Reduced bone mineral density ORPHA:848
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Abnormal cerebral white matter morph... ORPHA:99330
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Cerebral calcificat... ORPHA:79443
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating creatin... ORPHA:36234
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Hypoglycemia, Decrease... OMIM:615577
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... OMIM:619055
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Decreased serum ins... OMIM:619476
Hepatoportal Sclerosis
Hepatocellular carcinoma, Gastrointestinal hemorrhage, Esophageal varix, Gastric varix ORPHA:64743
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Premature ovarian insufficiency, Increased ci... OMIM:615300
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Abnormal adipose tissue mo... ORPHA:79324
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... ORPHA:293978
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss, Osteoporosis, Hypoalbuminemia OMIM:619487
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Microcephaly, Abnormal periventricular whi... OMIM:617784
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance OMIM:613327
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity OMIM:616278
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnormal stomach morphology, Intuss... ORPHA:512
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Failure to thrive, Atrophic scars, Craniosynostosis, Enamel hypoplasia, Hypoalbuminemia ORPHA:79396
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Acute pancreatitis, Hyper... OMIM:151660
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Gastroparesis... ORPHA:90291
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Failure to thrive, Hypoalbuminemia OMIM:617729
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Hypoalbuminemia ORPHA:67
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Failure to thrive, Abnormal circula... ORPHA:14
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Hypoalbuminemia OMIM:617303
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Small for gestational age, Failure to thri... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Premature adre... ORPHA:98754
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Camptodactyly, Coronal craniosynostosis, Umbilica... OMIM:235510
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypo