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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Wholemount

245 Images

Embryo LacZ

LacZ images wholemount

67 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

5 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
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... 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
Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone secretion, Elevated circul... ORPHA:100083
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig... ORPHA:52901
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Hype... ORPHA:1672
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Seizure, Abnormality of the autonomic nervous system, Type II diabetes ... ORPHA:79299
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Seizure, Hyperhidrosis, Progres... ORPHA:276608
Pulmonary Blastoma
Weight loss ORPHA:64741
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Failure to thrive,... OMIM:610600
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Hyper... OMIM:275000
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Memory impairm... ORPHA:251623
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Transient global amnesia, Neoplasm of the adrenal glan... ORPHA:97279
Isaacs Syndrome
Hyperhidrosis, Weight loss ORPHA:84142
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Failure to... OMIM:300200
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increased circulating... ORPHA:556037
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276575
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Seizure, Hypoinsulinemia, Hypothyroidism... ORPHA:99886
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Seizure, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance,... ORPHA:263458
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increased circulating... ORPHA:556030
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Weight loss, Insulin-resistant diabetes mellitus ORPHA:411593
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Episodic hyperhidrosis, Maturity-... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Idiopathic Achalasia
Weight loss ORPHA:930
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Attention deficit hyperactivi... ORPHA:35878
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Abnormal autonomic nervous system physiology, Cognitive impa... ORPHA:369873
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidis... ORPHA:361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... ORPHA:90791
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Seizure, Abnormal response to glucag... ORPHA:79644
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Glucocorticoid Deficiency 3
Increased circulating ACTH level, Abnormal circulating renin, Decreased circulating cortisol leve... OMIM:609197
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Bilateral tonic-clonic seizure, Hyp... OMIM:240900
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Small pituitary gland, Bilateral tonic-clonic seizure wi... OMIM:620115
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Weight loss ORPHA:86893
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasi... ORPHA:189427
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim... ORPHA:424
Bangstad Syndrome
Hyperinsulinemia, Seizure, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, ... ORPHA:1227
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Erythrokeratodermia Variabilis
Diabetes mellitus, Abnormal testis morphology, Weight loss ORPHA:317
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Decreased circulating aldosterone level, Ab... ORPHA:320
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Peritoneal Cystic Mesothelioma
Metrorrhagia, Menorrhagia, Dyspareunia, Weight loss ORPHA:168816
Huntington Disease-Like 2
Weight loss ORPHA:98934
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hypoglycemia, Increased hepati... ORPHA:263455
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Chronic Hiccup
Weight loss ORPHA:396
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Progressive psychomotor deterioration, Seizure, Cognit... ORPHA:363400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim... ORPHA:99819
Hereditary Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:30925
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Gangliocytoma
Focal-onset seizure, Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abn... ORPHA:251937
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... ORPHA:90795
Thymic Carcinoma
Hyperhidrosis, Neoplasm of the thymus, Weight loss ORPHA:99868
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... ORPHA:95512
Mulibrey Nanism
Cachexia ORPHA:2576
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Seizure, Status epilepticus, Crypto... ORPHA:2849
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, P... ORPHA:95513
Acth Deficiency, Isolated
Adrenal hypoplasia, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency OMIM:201400
Central Diabetes Insipidus
Failure to thrive, Weight loss, Diabetes insipidus ORPHA:178029
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Weight loss ORPHA:33355
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Infertility, Testicular atrophy, Hypothyroidism, Weight l... ORPHA:465508
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... ORPHA:171876
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Weight loss, Pa... ORPHA:103918
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... OMIM:202010
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:95626
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Weight loss, Increa... ORPHA:97287
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Testicular neoplasm, Cachexia, Weight loss ORPHA:83469
Wolman Disease
Cachexia, Steatorrhea, Adrenal calcification, Adrenal insufficiency ORPHA:75233
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Late-Onset Isolated Acth Deficiency
Premature ovarian insufficiency, Hypoparathyroidism, Decreased circulating ACTH concentration, Ad... ORPHA:199299
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Cholelithiasis, Weight loss ORPHA:65682
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Riboflavin Transporter Deficiency
Cachexia, Hypogonadism, Diabetes insipidus ORPHA:97229
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Polycystic ovarie... ORPHA:280356
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Cachexia, P... ORPHA:813
Huntington Disease-Like 2
Weight loss OMIM:606438
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hypergonadotropic hypogonadism ORPHA:298
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Renpenning Syndrome
Decreased testicular size, Cachexia, Diabetes mellitus, Hypospadias ORPHA:3242
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Addison Disease
Delayed puberty, Premature ovarian insufficiency, Hypoparathyroidism, Primary testicular failure,... ORPHA:85138
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Ppoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Cholelithiasis, Adrenocortica... ORPHA:97278
Solitary Fibrous Tumor
Hypoinsulinemia, Vaginal neoplasm, Abnormal prostate morphology, Prostate cancer, Weight loss, Ut... ORPHA:2126
Poems Syndrome
Erectile dysfunction, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuff... ORPHA:2905
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Seizure, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypo... ORPHA:79237
Somatostatinoma
Steatorrhea, Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical a... ORPHA:97283
Non-Functioning Paraganglioma
Episodic hyperhidrosis, Paraganglioma, Weight loss, Paraganglioma of head and neck ORPHA:94080
Focal Myositis
Weight loss ORPHA:48918
Hemochromatosis, Type 1
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... OMIM:235200
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Central hypothyroidism, Failure to thrive, Weight loss ORPHA:95427
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Weight loss ORPHA:142
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... OMIM:305400
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Vipoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical adenoma, Prima... ORPHA:97282
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss ORPHA:2221
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hirsutism, Hyperglycemia, Type II diabetes mellit... OMIM:604367
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Increased urinary cortisol ... ORPHA:786
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prola... ORPHA:91355
Grfoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Cholelithiasis, Adrenocortica... ORPHA:97261
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Type II diabetes mel... ORPHA:3085
Classic Hodgkin Lymphoma
Hyperhidrosis, Weight loss ORPHA:391
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Ovarian cyst, Hyperglyce... OMIM:246200
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Increas... ORPHA:2298
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Abnormal hai... ORPHA:2965
Juvenile Huntington Disease
Weight loss ORPHA:248111
Follicular Lymphoma
Weight loss ORPHA:545
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Precocious puberty, Weight loss, Metror... ORPHA:370348
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Pleural Mesothelioma
Weight loss ORPHA:50251
Mast Cell Sarcoma
Weight loss ORPHA:66661
Huntington Disease
Decreased body mass index, Abnormal libido, Weight loss ORPHA:399
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Type I diabetes mellitus, Weight loss ORPHA:1979
Nelson Syndrome
Anterior hypopituitarism, Secondary hypercortisolism, Diabetes insipidus, Adrenocorticotropic hor... ORPHA:199244
Perry Syndrome
Weight loss ORPHA:178509
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Optic nerve compression, Anterior hypopituitarism, Diabetes insipidus, ... ORPHA:91350
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Amenorrhea, Neoplasm of the pancreas, Pheochromocytoma, Pituitary gro... ORPHA:652
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullar... ORPHA:99889
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Pfapa Syndrome
Weight loss ORPHA:42642
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating renin level, F... ORPHA:95409
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Cushing Disease
Amenorrhea, Secondary amenorrhea, Increased body weight, Increased urinary cortisol level, Adrena... ORPHA:96253
Glucagonoma
Steatorrhea, Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical a... ORPHA:97280
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Bifid scrotum, Failure to thrive, Cryptorchidism, Supernumerary nipple ORPHA:217346
Takayasu Arteritis
Hyperhidrosis, Weight loss ORPHA:3287
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... ORPHA:64744
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Decreased testicular size, Obesity, Hyperhidrosis, Hypogonadism ORPHA:85293
Wilson Disease
Failure to thrive, Increased body weight, Weight loss, Abnormality of the menstrual cycle ORPHA:905
Renal Nutcracker Syndrome
Infertility, Dyspareunia, Vulval varicose vein, Varicocele, Dysmenorrhea, Weight loss ORPHA:71273
Celiac Disease, Susceptibility To, 1
Delayed puberty, Steatorrhea, Thyroiditis, Infertility, Failure to thrive, Weight loss, Type I di... OMIM:212750
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss ORPHA:100080
Fatal Familial Insomnia
Hyperhidrosis, Weight loss OMIM:600072
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Liposarcoma
Weight loss ORPHA:69078
Tetrasomy 12P
Hypohidrosis, Cachexia ORPHA:884
Cap Polyposis
Weight loss ORPHA:160148
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic hyperhidrosis, Adrenal pheochromocytoma, Paraganglioma of head and neck, Paraganglioma, ... ORPHA:276621
Parathyroid Carcinoma
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea... ORPHA:143
Rhabdoid Tumor
Weight loss ORPHA:69077
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Weight loss, Pancreatic adenocarcinoma, Ovarian carcinoma, Dia... ORPHA:1333
Christianson Syndrome
Cachexia ORPHA:85278
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Low posterior hairline,... ORPHA:528
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Panniculitis, Hepatomegaly, Acute pancreatitis, Generalized hirsutis... ORPHA:79086
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Osteosarcoma
Weight loss ORPHA:668
Huntington Disease-Like 1
Weight loss ORPHA:157941
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Immunodeficiency 27A
Weight loss OMIM:209950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Chronic Beryllium Disease
Weight loss ORPHA:133
Aredyld Syndrome
Cachexia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:1133
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circula... ORPHA:29072
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss ORPHA:100082
Eosinophilic Gastroenteritis
Steatorrhea, Weight loss ORPHA:2070
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hypothyroidism, Failure to thrive, Weight loss, Micropenis OMIM:619487
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Micropenis, Hypospadias, Weight loss OMIM:613673
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
8P23.1 Microdeletion Syndrome
Obesity, Cryptorchidism, Hypospadias, Weight loss ORPHA:251071
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Alopeci... ORPHA:3464
Igg4-Related Retroperitoneal Fibrosis
Retrograde ejaculation, Impotence, Hashimoto thyroiditis, Varicocele, Weight loss, Hydrocele testis ORPHA:49041
Congenital Tufting Enteropathy
Failure to thrive, Steatorrhea, Weight loss ORPHA:92050
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Seizure... OMIM:176270
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Leishmaniasis
Weight loss ORPHA:507
Kaposi Sarcoma
Weight loss ORPHA:33276
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Neuroendocrine Tumor Of Stomach
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Paraganglioma, Weight loss, Increased circul... ORPHA:100075
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss ORPHA:77297
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Cachexia, Failure to thrive, Primary adrenal insu... ORPHA:275761
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Nephroblastoma
Weight loss ORPHA:654
Tenorio Syndrome
Seizure, Hypoinsulinemia, Thick eyebrow, Hypoglycemia, Hypertrichosis OMIM:616260
Polyarteritis Nodosa
Weight loss ORPHA:767
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Thymoma
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss ORPHA:99867
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells, Weight loss, Neonatal in... ORPHA:99885
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Gm1 Gangliosidosis
Failure to thrive, Abnormal scrotum morphology, Weight loss ORPHA:354
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Erdheim-Chester Disease
Xanthelasma, Diabetes insipidus, Hyperhidrosis, Weight loss, Hypogonadotropic hypogonadism ORPHA:35687
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ectopic anterior pituitary gland, Pachygyria, Patent ductus arteriosus OMIM:620558
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Short Syndrome
Diabetes mellitus, Weight loss ORPHA:3163
Malt Lymphoma
Abnormality of the thyroid gland, Hyperhidrosis, Weight loss ORPHA:52417
Primary Hepatic Neuroendocrine Carcinoma
Carcinoid tumor, Neuroendocrine neoplasm, Increased serum serotonin, Weight loss ORPHA:100085
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Neoplasm of the pancreas, Pituitary adenoma, Weight loss, Pancreat... ORPHA:440437
Retinitis Pigmentosa
Optic atrophy, Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypogonad... ORPHA:791
Microsporidiosis
Adrenocortical abnormality, Prostatitis, Pancreatitis, Abnormal fallopian tube morphology, Cachex... ORPHA:2552
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Whipple Disease
Hypothyroidism, Cachexia, Erectile dysfunction ORPHA:3452
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormality of the endocrine system, Infertility, Abnorm... ORPHA:3385
Al Amyloidosis
Xerostomia, Abnormal salivary gland morphology, Autonomic erectile dysfunction, Weight loss ORPHA:85443
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Hirsutism, Acute pancreatitis, Hyperglycemia, Type II diabetes me... OMIM:151660
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cryptorchidism, Weight loss OMIM:301310
Acute Promyelocytic Leukemia
Metrorrhagia, Weight loss ORPHA:520
Giant Cell Arteritis
Hyperhidrosis, Weight loss, Diabetes insipidus ORPHA:397
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... OMIM:203800
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Decreased response to growth hormone stimulation test, Abnormali... ORPHA:273
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Perry Syndrome
Weight loss OMIM:168605
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Mandibuloacral Dysplasia
Hyperinsulinemia, Alopecia, Sparse hair, Insulin resistance, Glucose intolerance, Insulin-resista... ORPHA:2457
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Vaginal neoplasm, Failure to thrive, Weight loss, Uterine ne... ORPHA:1018
Oromandibular Dystonia
Weight loss ORPHA:93958
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Rheumatoid Arthritis
Weight loss OMIM:180300
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Seizure, Patent... OMIM:620185
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Brittle hair, Alopecia, Hyperglycemia, Sparse hair, Glucose intolerance, Insuli... OMIM:608612
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Immunodeficiency 31C
Delayed puberty, Diabetes mellitus, Hypothyroidism, Weight loss OMIM:614162
Loeffler Endocarditis
Weight loss ORPHA:75566
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Igg4-Related Aortitis
Weight loss ORPHA:449400
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Neuroblastoma
Elevated circulating catecholamine level, Weight loss ORPHA:635
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia OMIM:175500
Ménétrier Disease
Weight loss ORPHA:2494
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Male hypogonadism, Primary hypothyroidism, Hypohidrosis, Failu... OMIM:219800
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Bicornuate... ORPHA:84
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Cachexia, Thyroiditis, Hypothyroidism, Hyperthyroidism, Fail... ORPHA:37042
Pneumocystosis
Weight loss ORPHA:723
Familial Thrombocytosis
Hyperhidrosis, Weight loss ORPHA:71493
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Thyroiditis, Abnormality of the sub... ORPHA:79078