Gene Summary

Name:
galanin and GMAP prepropeptide
Synonyms:
Galn

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.

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Viewing: all phenotypes
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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
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)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images homozygote 100% (2 of 2)
Cecum  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images homozygote Ambiguous
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 0.0% (0 of 4)
Lung  Wholemount images homozygote Ambiguous
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Lymph node  Wholemount images homozygote 0.0% (0 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
Parotid gland  Wholemount images heterozygote Ambiguous
Parotid gland  Wholemount images homozygote Ambiguous
Prostate gland  Wholemount images heterozygote Not available
Prostate gland  Wholemount images homozygote Not available
Skin  Wholemount images homozygote 0.0% (0 of 2)
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 0.0% (0 of 4)
Sublingual gland  Wholemount images homozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
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
Trigeminal V nerve  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images homozygote 100% (2 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
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Adrenal gland N/A homozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 4)
Aorta N/A homozygote 0.0% (0 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 0.0% (0 of 4)
Cerebellum N/A homozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A homozygote 0.0% (0 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 0.0% (0 of 4)
Hippocampus N/A homozygote 0.0% (0 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
Main olfactory bulb N/A heterozygote 0.0% (0 of 4)
Main olfactory bulb N/A homozygote 0.0% (0 of 2)
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 0.0% (0 of 4)
Midbrain N/A homozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A homozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 4)
Pancreas 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)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Pituitary gland 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)
Skin N/A heterozygote 0.0% (0 of 4)
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 0.0% (0 of 4)
Striatum N/A homozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 4)
Thalamus N/A homozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 4)
Tongue N/A homozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 4)
Trachea N/A homozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 4)
Vagina N/A homozygote 0.0% (0 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% (5 of 5)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 5)
Head N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 5)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 5)
Ear N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 5)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forearm N/A heterozygote 0.0% (0 of 5)
Forearm N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 5)
Forebrain N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 5)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 5)
Hindbrain N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 5)
Liver N/A homozygote 0.0% (0 of 1)
Lower leg N/A heterozygote 0.0% (0 of 5)
Lower leg N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 5)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 5)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 5)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail somite N/A homozygote 0.0% (0 of 1)
Upper arm N/A heterozygote 0.0% (0 of 5)
Upper arm N/A homozygote 0.0% (0 of 1)
Upper leg N/A heterozygote 0.0% (0 of 5)
Upper leg N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
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

245 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Embryo LacZ

LacZ images wholemount

67 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Gal 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 associated to Gal by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware cognitive seizure with forced thinki... OMIM:616461

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Laryngeal Neuroendocrine Tumor
Inappropriate antidiuretic hormone secretion, Elevated calcitonin, Increased serum serotonin, Adr... ORPHA:100083
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... OMIM:620198
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hyperaldosteronism, Diabetes mellitus, Incre... ORPHA:1501
Diencephalic Syndrome
Cachexia, Hyperhidrosis, Long penis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Seizure, Type II diabetes mellitus, Hyperinsuli... ORPHA:79299
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556037
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Re... ORPHA:276608
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Failure to thrive, In... OMIM:610600
Pulmonary Blastoma
Weight loss ORPHA:64741
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556030
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating ho... OMIM:613239
Tuberculosis
Weight loss ORPHA:3389
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... OMIM:275000
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Isaacs Syndrome
Hyperhidrosis, Weight loss ORPHA:84142
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Insulinoma
Pituitary prolactin cell adenoma, Transient global amnesia, Fasting hyperinsulinemia, Recurrent h... ORPHA:97279
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Status epilepticus, Excessive insulin response to glucag... ORPHA:276580
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating aldosterone level, Abs... OMIM:300200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Status epilepticus, Excessive insulin response to glucagon test, Hepatomega... ORPHA:276575
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Increased circulating cortisol level, Truncal obesity, Primary hypercortisolism, De... OMIM:610475
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Micropenis, Dec... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Micropenis, Decreased circulating follicle... OMIM:308750
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... ORPHA:99886
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... OMIM:614736
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Seizure, Insulin resistance, Hyperinsulinemic h... ORPHA:263458
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact... ORPHA:97289
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Weight loss ORPHA:411593
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... OMIM:262600
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concent... OMIM:620211
Medullary Thyroid Carcinoma
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Hyperhidrosis... ORPHA:1332
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:609734
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypopituitarism, Decreased testicular size, Delayed puberty, Abnormality of secondary sexual hair... ORPHA:95494
Idiopathic Achalasia
Weight loss ORPHA:930
Proprotein Convertase 1/3 Deficiency
Primary amenorrhea, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decreased circulating cortiso... OMIM:600955
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Crypto... ORPHA:361
Hyperinsulinism Due To Ucp2 Deficiency
Status epilepticus, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepatome... ORPHA:276556
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Neonatal hypoglycemia, Bilateral tonic-clonic seizure, Hypoinsulinemia, Hyp... OMIM:240900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... ORPHA:189427
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Glucocorticoid Deficiency 5
Abnormal response to ACTH stimulation test, Decreased circulating cortisol level OMIM:617825
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Pancreatitis, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hepatic stea... ORPHA:79084
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... ORPHA:79644
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Weight loss ORPHA:86893
X-Linked Acrogigantism
Hypopituitarism, Elevated circulating growth hormone concentration, Delayed puberty, Abnormality ... ORPHA:300373
Bangstad Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Increased circulating cortisol level, P... ORPHA:1227
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Adrenal hyperplasia, Pigmented micronodular adrenocortical disease, Diabetes mel... ORPHA:189439
Obesity Due To Sim1 Deficiency
Cognitive impairment, Abnormal autonomic nervous system physiology, Memory impairment, Hyperinsul... ORPHA:369873
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Metrorrhagia, Weight loss ORPHA:168816
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Erythrokeratodermia Variabilis
Diabetes mellitus, Abnormal testis morphology, Weight loss ORPHA:317
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... ORPHA:90794
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Fasting hyperinsulinemia, Reactive hypoglycemia, Generalized non-motor... ORPHA:35878
Huntington Disease-Like 2
Weight loss ORPHA:98934
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Progr... ORPHA:263455
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... ORPHA:320
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... ORPHA:66628
Severe Neurodegenerative Syndrome With Lipodystrophy
Status epilepticus, Cognitive impairment, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Seizure, Hep... ORPHA:363400
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Small for gestational age, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimu... ORPHA:424
Hodgkin Lymphoma
Hyperhidrosis, Weight loss ORPHA:98293
Chronic Hiccup
Weight loss ORPHA:396
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... ORPHA:179494
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Decreased circulating ACTH level, Macronodular adrenal hype... OMIM:615954
Non-Acquired Panhypopituitarism
Hypopituitarism, Decreased testicular size, Delayed puberty, Abnormality of secondary sexual hair... ORPHA:90695
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased circulating androstenedione concentration, Increased ser... ORPHA:90795
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor... ORPHA:453533
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... ORPHA:91347
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Adrenocortico... ORPHA:91349
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Gangliocytoma
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Focal-onset ... ORPHA:251937
Adenohypophysitis
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:95512
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Weight loss, Failure to thrive OMIM:143880
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... OMIM:174800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:99819
Mulibrey Nanism
Cachexia ORPHA:2576
Thymic Carcinoma
Neoplasm of the thymus, Hyperhidrosis, Weight loss ORPHA:99868
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Perlman Syndrome
Status epilepticus, Cryptorchidism, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology,... ORPHA:2849
Pituitary Carcinoma
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... ORPHA:300385
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased testicular size, Increased serum t... OMIM:202010
Panhypophysitis
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:95513
Tropical Pancreatitis
Maternal diabetes, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocar... ORPHA:103918
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Decreased serum testosterone concentration, Diabetes mellitus, Infertility, E... ORPHA:465508
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Weight loss, Failure to thrive ORPHA:33355
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Abnormal circulating aldosterone, Failure to thrive in infancy... ORPHA:171876
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Optic atrophy, Abnormal testis morphology ORPHA:791
Central Diabetes Insipidus
Diabetes insipidus, Weight loss, Failure to thrive ORPHA:178029
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:168558
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Steatorrhea, Cachexia ORPHA:75233
Mody
Pancreatic hypoplasia, Abnormal circulating insulin concentration, Neonatal hypoglycemia, Hepatoc... ORPHA:552
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Cachexia, Ovarian neoplasm, Testicular neoplasm, Weight loss ORPHA:83469
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating h... ORPHA:280356
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Hypogonadism ORPHA:97229
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Cholelithiasis, Weight loss ORPHA:65682
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Increased ci... ORPHA:97287
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Late-Onset Isolated Acth Deficiency
Graves disease, Premature ovarian insufficiency, Adrenocorticotropin deficient adrenal insufficie... ORPHA:199299
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency ORPHA:2047
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Estrogen Resistance Syndrome
Breast hypoplasia, Abnormality of the pubic hair, Hyperinsulinemia, Glucose intolerance, Abnormal... ORPHA:785
Zollinger-Ellison Syndrome
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adrenocortic... ORPHA:913
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Female external genitalia in individual wi... ORPHA:90790
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Elevate... ORPHA:95699
Silver-Russell Syndrome
Decreased testicular size, Cryptorchidism, Precocious puberty, Failure to thrive in infancy, Cach... ORPHA:813
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss ORPHA:298
Ppoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97278
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... ORPHA:3453
Addison Disease
Delayed puberty, Premature ovarian insufficiency, Thymoma, Adrenal hypoplasia, Increased circulat... ORPHA:85138
Renpenning Syndrome
Diabetes mellitus, Decreased testicular size, Cachexia, Hypospadias ORPHA:3242
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Primary hypercortis... OMIM:615830
Huntington Disease-Like 2
Weight loss OMIM:606438
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... OMIM:613986
Somatostatinoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97283
Solitary Fibrous Tumor
Uterine neoplasm, Abnormal prostate morphology, Prostate cancer, Hypoinsulinemia, Vaginal neoplas... ORPHA:2126
Galactokinase Deficiency
Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Seizure, Psyc... ORPHA:79237
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypog... OMIM:235200
Grfoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97261
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... ORPHA:786
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss ORPHA:2221
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Diabetes mellitus, Abnormality of th... ORPHA:2905
Focal Myositis
Weight loss ORPHA:48918
Secondary Short Bowel Syndrome
Central hypothyroidism, Steatorrhea, Failure to thrive, Primary hypothyroidism, Weight loss ORPHA:95427
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Polycystic ovaries, Hyperinsulinemia, Cirrhosis, Hyperglycemia, Type II diabet... OMIM:604367
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... ORPHA:3085
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Peripheral Primitive Neuroectodermal Tumor
Uterine neoplasm, Precocious puberty, Neoplasm of the pancreas, Pancreatitis, Metrorrhagia, Neopl... ORPHA:370348
Vipoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97282
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypertrichosis, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia... OMIM:262190
Non-Functioning Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Episodic hyperhidrosis, Weight loss ORPHA:94080
Pituitary Apoplexy
Oligomenorrhea, Hypopituitarism, Elevated circulating growth hormone concentration, Increased cir... ORPHA:95613
Donohue Syndrome
Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,... OMIM:246200
Prolactinoma
Abnormal hair quantity, Delayed puberty, Elevated circulating growth hormone concentration, Adren... ORPHA:2965
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter, Weight loss ORPHA:142
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormal salivary gland morphology, Diabetic ketoacidosis, Po... ORPHA:2298
Juvenile Huntington Disease
Weight loss ORPHA:248111
Classic Hodgkin Lymphoma
Hyperhidrosis, Weight loss ORPHA:391
Mast Cell Sarcoma
Weight loss ORPHA:66661
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Follicular Lymphoma
Weight loss ORPHA:545
Nelson Syndrome
Increased circulating prolactin concentration, Pituitary corticotropic cell adenoma, Increased ci... ORPHA:199244
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Polycystic ... OMIM:615363
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Cachexia, Weight loss ORPHA:1979
Huntington Disease
Abnormal libido, Decreased body mass index, Weight loss ORPHA:399
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Decreased male libido, Increased circulating cortisol level, Insu... ORPHA:652
Pleural Mesothelioma
Weight loss ORPHA:50251
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Multiple Endocrine Neoplasia, Type I
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adenoma seba... OMIM:131100
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Glucagonoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97280
Perry Syndrome
Weight loss ORPHA:178509
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Increased circulating reni... ORPHA:95409
Pfapa Syndrome
Weight loss ORPHA:42642
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Increased circulating cortisol level, Truncal obesity, Medullary thyroid carci... ORPHA:99889
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Takayasu Arteritis
Hyperhidrosis, Weight loss ORPHA:3287
Cushing Disease
Abnormal libido, Adrenal hyperplasia, Oligomenorrhea, Increased circulating ACTH level, Pituitary... ORPHA:96253
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Supernumerary nipple, Cachexia, Failure to thrive, Bifid scrotum, Hypospadias ORPHA:217346
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Elevated calcitonin, Hyperparathyroidism, Increased circulating corti... OMIM:171400
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligosper... ORPHA:85450
Wilson Disease
Weight loss, Abnormality of the menstrual cycle, Failure to thrive, Increased body weight ORPHA:905
Alstrom Syndrome
Chronic active hepatitis, Multinodular goiter, Diabetes insipidus, Hepatomegaly, Decreased respon... OMIM:203800
Renal Nutcracker Syndrome
Dysmenorrhea, Dyspareunia, Varicocele, Infertility, Vulval varicose vein, Weight loss ORPHA:71273
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Hypogonadism, Cachexia, Hypoplasia of penis, Hyperhidrosis, Obesity ORPHA:85293
Celiac Disease, Susceptibility To, 1
Delayed puberty, Steatorrhea, Failure to thrive, Infertility, Thyroiditis, Type I diabetes mellit... OMIM:212750
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Fatal Familial Insomnia
Hyperhidrosis, Weight loss OMIM:600072
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive ORPHA:1842
Igg4-Related Thyroid Disease
Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hypothyroidism, Hashi... ORPHA:64744
Familial Pancreatic Carcinoma
Diabetes mellitus, Ovarian carcinoma, Pancreatic adenocarcinoma, Weight loss, Exocrine pancreatic... ORPHA:1333
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Tetrasomy 12P
Hypohidrosis, Cachexia ORPHA:884
Liposarcoma
Weight loss ORPHA:69078
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Cap Polyposis
Weight loss ORPHA:160148
Rhabdoid Tumor
Weight loss ORPHA:69077
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Hepatic steato... ORPHA:79086
Congenital Generalized Lipodystrophy
Diabetes mellitus, Polycystic ovaries, Precocious puberty in females, Low posterior hairline, Hep... ORPHA:528
Parathyroid Carcinoma
Parathyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Pancreatic a... ORPHA:143
Osteosarcoma
Weight loss ORPHA:668
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Huntington Disease-Like 1
Weight loss ORPHA:157941
Christianson Syndrome
Cachexia ORPHA:85278
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Paraganglioma, P... ORPHA:276621
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Immunodeficiency 27A
Weight loss OMIM:209950
Aredyld Syndrome
Type I diabetes mellitus, Type II diabetes mellitus, Cachexia ORPHA:1133
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Aicardi-Goutieres Syndrome 9
Micropenis, Failure to thrive, Acute pancreatitis, Hypothyroidism, Weight loss OMIM:619487
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Eosinophilic Gastroenteritis
Steatorrhea, Weight loss ORPHA:2070
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Varicocele, Impotence, Hydrocele testis, Retrograde ejaculation, Weight loss ORPHA:49041
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Hypogonadism, Decreased response to growth hormone st... ORPHA:3464
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Hypospadias, Micropenis, Weight loss OMIM:613673
Hereditary Pheochromocytoma-Paraganglioma
Elevated calcitonin, Adrenal pheochromocytoma, Episodic hyperhidrosis, Extraadrenal pheochromocyt... ORPHA:29072
8P23.1 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Weight loss, Obesity ORPHA:251071
Eosinophilic Fasciitis
Weight loss ORPHA:3165
X-Linked Agammaglobulinemia
Weight loss, Failure to thrive ORPHA:47
Kaposi Sarcoma
Weight loss ORPHA:33276
Chronic Beryllium Disease
Weight loss ORPHA:133
Congenital Tufting Enteropathy
Steatorrhea, Weight loss, Failure to thrive ORPHA:92050
Carney Complex
Abnormal morphology of female internal genitalia, Increased circulating cortisol level, Euthyroid... ORPHA:1359
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Thyrotoxic Periodic Paralysis
Graves disease, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with toxic single t... ORPHA:79102
Leishmaniasis
Weight loss ORPHA:507
Cystic Echinococcosis
Abnormality of the testis size, Ovarian cyst, Weight loss ORPHA:400
Prader-Willi Syndrome
Delayed puberty, Cryptorchidism, Decreased response to growth hormone stimulation test, Hyperinsu... OMIM:176270
Pemphigus Vulgaris
Weight loss ORPHA:704
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Polyarteritis Nodosa
Weight loss ORPHA:767
Lysosomal Acid Lipase Deficiency
Steatorrhea, Adrenal calcification, Cachexia, Failure to thrive, Hypertriglyceridemia, Xanthelasm... ORPHA:275761
Majeed Syndrome
Cachexia, Weight loss, Failure to thrive ORPHA:77297
Nephroblastoma
Weight loss ORPHA:654
Thymoma
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss ORPHA:99867
Neuroendocrine Tumor Of Stomach
Increased circulating ACTH level, Increased serum serotonin, Paraganglioma, Carcinoid tumor, Atyp... ORPHA:100075
Tenorio Syndrome
Thick eyebrow, Hypoinsulinemia, Seizure, Hypertrichosis, Hypoglycemia OMIM:616260
Gm1 Gangliosidosis
Abnormality of the scrotum, Failure to thrive, Weight loss ORPHA:354
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Short Syndrome
Diabetes mellitus, Weight loss ORPHA:3163
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Uterine neoplasm, Neoplasm of the pancreas, Pancreatic adenocarcin... ORPHA:440437
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware cognitive seizure with forced thinki... OMIM:616461
Erdheim-Chester Disease
Diabetes insipidus, Xanthelasma, Hyperhidrosis, Hypogonadotropic hypogonadism, Weight loss ORPHA:35687
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Whipple Disease
Erectile dysfunction, Cachexia, Hypothyroidism ORPHA:3452
African Trypanosomiasis
Abnormality of circulating cortisol level, Abnormal prolactin level, Abnormality of the endocrine... ORPHA:3385
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Reduced p... ORPHA:99885
Lynch Syndrome
Neoplasm of the thyroid gland, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Ovarian neopl... ORPHA:144
Microsporidiosis
Abnormal endometrium morphology, Pancreatitis, Abnormality of the parathyroid gland, Cachexia, Ad... ORPHA:2552
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II di... OMIM:151660
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Malt Lymphoma
Abnormality of the thyroid gland, Hyperhidrosis, Weight loss ORPHA:52417
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Neuroendocrine neoplasm, Carcinoid tumor, Weight loss ORPHA:100085
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Al Amyloidosis
Autonomic erectile dysfunction, Abnormal salivary gland morphology, Xerostomia, Weight loss ORPHA:85443
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Acute Promyelocytic Leukemia
Metrorrhagia, Weight loss ORPHA:520
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Giant Cell Arteritis
Diabetes insipidus, Hyperhidrosis, Weight loss ORPHA:397
Mandibuloacral Dysplasia
Alopecia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Sparse hair, Insulin-resista... ORPHA:2457
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Rheumatoid Arthritis
Weight loss OMIM:180300
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Alopecia, Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Sparse hair, Insuli... OMIM:608612
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Fa... ORPHA:273
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Seizure, Patent ductus arteriosus... OMIM:620185
Oromandibular Dystonia
Weight loss ORPHA:93958
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Loeffler Endocarditis
Weight loss ORPHA:75566
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Abnormality of the female genitalia, Failure to thrive, Vaginal neoplasm, Weigh... ORPHA:1018
Igg4-Related Aortitis
Weight loss ORPHA:449400
Neuroblastoma, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:256700
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus, Weight loss OMIM:614162
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Perry Syndrome
Weight loss OMIM:168605
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia ORPHA:3217
Ménétrier Disease
Weight loss ORPHA:2494
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Steatorrhea, Weight loss ORPHA:309031
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Cachexia OMIM:175500
Klatskin Tumor
Weight loss ORPHA:99978
Fanconi Anemia
Cryptorchidism, Absent testis, Abnormal preputium morphology, Hypogonadism, Azoospermia, Decrease... ORPHA:84
Felty Syndrome
Weight loss ORPHA:47612
Familial Thrombocytosis
Hyperhidrosis, Weight loss ORPHA:71493
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964