Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
wolframin ER transmembrane glycoprotein
Synonyms:
Wolfram syndrome 1 homolog (human),  wolframin

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wfs1 mutations

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

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

The table below shows human diseases predicted to be associated to Wfs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Short stature, Impaired social interactions, Delayed speech and language develo... ORPHA:329249
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... ORPHA:99886
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Short stature, Small for gestational age, Diabetic ketoacid... OMIM:262190
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Polyphagia, Primary amenorrhea, ... OMIM:614962
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growt... OMIM:601410
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Abnormality of body weight, Delayed puberty, Decreased seru... ORPHA:314811
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Hypogonadism, Ataxia, Hypoglycemia, Postnatal growth retar... OMIM:616113
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Delayed speech and language development, Increased circulating free T3, Impaired sensitivity to t... OMIM:188570
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... ORPHA:79084
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... ORPHA:171706
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... OMIM:275000
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... ORPHA:168782
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Severe short stature, Insulin-resistant... OMIM:210740
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resis... OMIM:604367
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypergly... OMIM:619737
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Huntington Disease-Like 2
Chorea, Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irrita... OMIM:606438
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Dementia, Male hypogonadism, Diabetes mellitus, De... ORPHA:411590
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Long penis, Severe failure to thrive, Postprandial hypergly... OMIM:246200
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Short stature, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, ... ORPHA:181393
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Glycosuria, Type I diabetes mellitus, Delayed social development, Hype... OMIM:618857
Chorea, Benign Hereditary
Chorea, Gait disturbance, Dementia, Anxiety OMIM:118700
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depression, Anxi... OMIM:619191
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... ORPHA:100083
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Huntington Disease-Like 1
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness OMIM:603218
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Insulin-Resistance Syndrome Type B
Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Glucose intoleran... ORPHA:2298
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia OMIM:222100
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Bardet-Biedl Syndrome 9
Irregular menstruation, Delayed speech and language development, Polyphagia, Truncal obesity, Hyp... OMIM:615986
Mehmo Syndrome
Gait ataxia, Decreased response to growth hormone stimulation test, Birth length less than 3rd pe... OMIM:300148
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Hyperglycemia, Infertility, Erectile dysfunction, Testicular atrophy... ORPHA:465508
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Bdv Syndrome
Primary amenorrhea, Central hypothyroidism, Decreased circulating follicle stimulating hormone co... OMIM:619326
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1, Growt... ORPHA:314802
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Weight loss, Ataxia, Dementia, Depression, Progressive cerebe... ORPHA:248111
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Unsteady gait OMIM:520000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... ORPHA:276608
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Weight loss, Vaginal neoplasm, Hypoglycemia, Hypoinsulinemia, Recurrent hypoglyc... ORPHA:2126
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Delayed speech and language development, Ataxia OMIM:618970
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... ORPHA:457059
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... OMIM:262700
Huntington Disease
Inability to walk, Suicidal ideation, Choking episodes, Difficulty walking, Alcoholism, Decreased... ORPHA:399
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Short stature, Secondary amenorrhea, Decreased testicular size, Type II diabete... ORPHA:3085
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... ORPHA:254516
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Cachexia, Ataxia, Dysmetria, Depression, Anxiety, Dysphagia, Mental deterior... OMIM:618093
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Thyroid Cancer, Nonmedullary, 4
Papillary thyroid carcinoma, Prostate cancer, Goiter, Ovarian neoplasm OMIM:616534
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Hyperthyroidism, Nonautoimmune
Hyperactivity, Hyperthyroidism, Small for gestational age, Delayed speech and language developmen... OMIM:609152
Maffucci Syndrome
Parathyroid adenoma, Neoplasm of the parathyroid gland, Short stature, Neoplasm of the adrenal co... ORPHA:163634
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Truncal ataxia, Infertility, Reduced sperm motility, Ataxia, Abnormal ... ORPHA:320391
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Intrauteri... OMIM:606176
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hypospadias, Cryptorchidism OMIM:175700
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Shuffling gait, Falls, Inertia, Motor deteriorat... ORPHA:412066
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Shor... ORPHA:1227
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... ORPHA:791
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... OMIM:262400
Brain-Lung-Thyroid Syndrome
Thyroid hemiagenesis, Hyperactivity, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:209905
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... OMIM:613239
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Diabetes insipidus, Short stature, Hypoplasia of penis, Ectopic posterior pituita... ORPHA:95496
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus, Short stature, Abnormal testis morphology ORPHA:317
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Essential Fructosuria
Hyperglycemia ORPHA:2056
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Goiter, Secondary amenorrhea OMIM:617175
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Short Syndrome
Birth length less than 3rd percentile, Small for gestational age, Delayed speech and language dev... OMIM:269880
Anaplastic Thyroid Carcinoma
Weight loss, Nodular goiter, Anaplastic thyroid carcinoma, Dysphagia, Goiter ORPHA:142
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Hyperactivity, Hyperthyroidism, Weight lo... ORPHA:424
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Type II diabetes mellitus, Diabetes mellitus, Depression, Anxiety OMIM:614296
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Fasting hypoglycemia, Sho... ORPHA:769
Medullary Thyroid Carcinoma
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Dysphagia, Medullary thyroid ... ORPHA:1332
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Obesity ORPHA:71529
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Thyroid dysgenesis, Short stature ORPHA:226292
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Small for gestational ag... ORPHA:397590
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Hyperactivity, Hyperthyroidism, Weight lo... ORPHA:99819
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... ORPHA:95619
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity OMIM:617885
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Short stature, Polyphagia, Attention deficit hyperactivity disorder, Obesity, G... ORPHA:369873
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Pediatric-Onset Graves Disease
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... ORPHA:525731
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... OMIM:614736
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia, Hypoplasia of penis, Cryptorchidism ORPHA:2022
Moynahan Syndrome
Short stature, Cachexia, Hypogonadism ORPHA:2574
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Gait imbalance, Secondary amenorrhea, Prematu... ORPHA:79239
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Short stature, Small for gestational age, Neonatal hypoglycemia, Hypoglyce... ORPHA:231140
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Congenital Hypothyroidism
Hypothyroidism, Short stature, Hypogonadism, Anterior hypopituitarism, Abnormality of reproductiv... ORPHA:442
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Anxiety, Decreased circulating ACTH level, Pigmented micron... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Insulinoma
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr... ORPHA:97279
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Di... ORPHA:276556
Carcinoma Of Esophagus
Obesity, Weight loss, Dysphagia ORPHA:70482
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Short... ORPHA:3077
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Moderate postnatal growth retardation, Hyperglycemia, Abnormal or... ORPHA:69076
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Long penis ORPHA:1672
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Short stature, Small for gestational age, Insulin resistance, Severe... ORPHA:73272
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insu... ORPHA:79085
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
External genital hypoplasia, Hypoglycemia, Small for gestational age, Intrauterine growth retarda... ORPHA:231147
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Galactokinase Deficiency
Hyperinsulinemia, Premature ovarian insufficiency, Small for gestational age, Failure to thrive, ... ORPHA:79237
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... ORPHA:293964
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Bre... OMIM:615363
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Growth delay, Hypogonadism ORPHA:163693
Pulmonary Blastoma
Weight loss ORPHA:64741
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... ORPHA:226313
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Short stature, ... OMIM:262600
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Primary amenorr... OMIM:616033
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia, Cryptorchidism, Dysphagia, Intrauterine growth retardation OMIM:618958
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Leptin Receptor Deficiency
Aggressive behavior, Decreased response to growth hormone stimulation test, Short stature, Emotio... OMIM:614963
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Thyroid Lymphoma
Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis, Dysphagia, Goiter ORPHA:97285
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Pandas
Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impuls... ORPHA:66624
Lead Poisoning
Impaired social interactions, Decreased female libido, Small for gestational age, Infertility, De... ORPHA:330015
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Fa... OMIM:617872
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance OMIM:604484
Pancreatic Agenesis 2
Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:615935
Mccune-Albright Syndrome
Decreased fertility, Irregular menstruation, Macroorchidism, Precocious puberty, Increased circul... ORPHA:562
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Weight loss, Incr... ORPHA:1501
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries,... ORPHA:435660
Thyrocerebroretinal Syndrome
Ataxia, Goiter OMIM:274240
Perry Syndrome
Inappropriate behavior, Frontotemporal dementia, Weight loss, Akinesia, Suicidal ideation, Apathy... OMIM:168605
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter OMIM:274400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nonprogressive cerebellar ataxia ORPHA:3327
Glycerol Kinase Deficiency
Short stature, Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Hypog... OMIM:307030
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Short stature, Glycosuria, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid... OMIM:615109
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615108
Isolated Congenital Hypoglossia/Aglossia
Delayed speech and language development, Weight loss ORPHA:141152
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Labial hyper... ORPHA:508
Riboflavin Transporter Deficiency
Diabetes insipidus, Hypogonadism, Cachexia, Ataxia, Dysphagia ORPHA:97229
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Alcoholism, Hypopituitarism ORPHA:90065
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:435651
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556037
Beta-Ketothiolase Deficiency
Oral aversion, Weight loss, Ataxia, Agitation, Hypoglycemia, Hyperglycemia ORPHA:134
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Insulin resistance, Failure to t... ORPHA:528
Alstrom Syndrome
Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response ... OMIM:203800
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Failure to thrive, In... OMIM:610600
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556030
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Silver-Russell Syndrome
Precocious puberty, Short stature, Decreased testicular size, Cachexia, Insulin resistance, Prema... ORPHA:813
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... OMIM:606069
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Pancreatic aplasia, Hypoglycemia, Se... OMIM:609069
Pendred Syndrome
Hypothyroidism, Thyroid carcinoma, Ataxia, Hyperparathyroidism, Goiter ORPHA:705
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian carcinoma, Ov... OMIM:158350
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Tuberculosis
Weight loss ORPHA:3389
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Addison Disease
Thymoma, Primary testicular failure, Decreased circulating aldosterone level, Weight loss, Decrea... ORPHA:85138
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Renpenning Syndrome
Decreased testicular size, Cachexia, Severe short stature, Hypospadias, Diabetes mellitus, Growth... ORPHA:3242
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Perlman Syndrome
Hyperinsulinemia, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Atypical Werner Syndrome
Decreased fertility, Hyperinsulinemia, Decreased body weight, Hypogonadism, Secondary amenorrhea,... ORPHA:79474
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Growth delay, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intol... OMIM:608612
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Glycosuria, Failure to thrive, Diabetes mellitus, Postprandial hyperg... ORPHA:2088
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Blepharochalasis And Double Lip
Goiter OMIM:109900
Igg4-Related Thyroid Disease
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... ORPHA:64744
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Growth delay, Weight loss ORPHA:30925
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Polycystic ovaries, Insuli... OMIM:151660
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia, Growth delay OMIM:615453
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Hypothyroidism, Thyroid hypoplasia, Failure to thrive, Severe short stature, Growth delay, Crypto... ORPHA:3047
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... OMIM:225250
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Memory impairment, Cognitive impairment, Increased circulating cortisol level... ORPHA:189427
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... OMIM:167800
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Decreas... OMIM:146510
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Tenorio Syndrome
Delayed speech and language development, Hypoglycemia, Gait disturbance, Hypoinsulinemia OMIM:616260
Stiff Person Spectrum Disorder
Hypothyroidism, Exaggerated startle response, Falls, Emotional lability, Diabetes mellitus, Diffi... ORPHA:3198
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased serum leptin, Diabetic ketoacidosis, Decreased adiponectin level OMIM:615238
Hereditary Chronic Pancreatitis
Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Prader-Willi Syndrome
Precocious puberty, Adrenal insufficiency, Primary amenorrhea, Abdominal obesity, External genita... OMIM:176270
Autosomal Dominant Progressive External Ophthalmoplegia
Gait ataxia, Hypothyroidism, Hyperthyroidism, Gait disturbance, Ataxia, Failure to thrive, Diabet... ORPHA:254892
Gm2 Gangliosidosis, Ab Variant
Chorea, Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-related behav... ORPHA:309246
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Primary Pigmented Nodular Adrenocortical Disease
Memory impairment, Cognitive impairment, Increased circulating cortisol level, Type II diabetes m... ORPHA:189439
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Diabetes mellitus, Annular pancreas, Hyperglycemia, In... OMIM:615710
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyp... ORPHA:263455
Flynn-Aird Syndrome
Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Ataxia, Abnormality of the th... ORPHA:2047
Laron Syndrome
Hypoplasia of penis, Severe short stature, Delayed puberty, Hypoglycemia, Truncal obesity, Abnorm... ORPHA:633
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... ORPHA:90790
Late-Onset Isolated Acth Deficiency
Weight loss, Premature ovarian insufficiency, Decreased circulating ACTH level, Decreased circula... ORPHA:199299
Mcdonough Syndrome
Cachexia, Short stature, Cryptorchidism ORPHA:2471
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Poems Syndrome
Hypothyroidism, Increased circulating prolactin concentration, Weight loss, Hypogonadism, Acrocya... ORPHA:2905
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Truncal obesity OMIM:615812
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia, Hypergonadotropic hypogonadism, Dysphagia, Hypogonadotropic hypogonadism ORPHA:298
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Cyanosis, Increased circulating prolactin concentration, Gonadotropin def... ORPHA:293987
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... ORPHA:226316
Necrotizing Enterocolitis
Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... ORPHA:103918
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Hyperinsulinemia, Delayed speech and language development, Insulin re... ORPHA:363400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Decreased circulating free T4 concentration, Short stature, Inappropriate... OMIM:301035
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Bachmann-Bupp Syndrome
Focal polymicrogyria, Delayed speech and language development, Large for gestational age, Hypogly... OMIM:619075
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Reactive hypoglycemia, Primary amenorrhea, Hypogonadotropic... OMIM:600955
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss, Diabetes insipidus ORPHA:178029
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Glu... OMIM:235200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Growth delay, Insulin-resistant diabetes mellitus, ... OMIM:248370
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Spondylometaphyseal Dysplasia, Axial
Disproportionate short-trunk short stature, Reduced sperm motility, Rhizomelia, Short stature OMIM:602271
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypospadias, Adrenal hyperplasia, Hypoglycemia OMIM:201910
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus ORPHA:371428
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Loss of ambulation, Difficulty walking, Ora... ORPHA:98897
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Ataxia, Hypoglycemia, Cryptorchidism, Microp... OMIM:617575
Rett Syndrome
Increased serum leptin, Inability to walk, Gait disturbance, Agitation, Absent speech, Failure to... ORPHA:778
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Hypogonadism, Short stature, Decreased testicular size, Cachexia, Hypoplasia of pe... ORPHA:85293
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Cowden Syndrome
Enlarged polycystic ovaries, Short stature, Adenoma sebaceum, Ataxia, Abnormality of the uterus, ... ORPHA:201
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty,... OMIM:608594
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... OMIM:615962
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Short stature, Postnatal growth retardation OMIM:619489
Hirschsprung Disease
Short stature, Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Pyruvate Carboxylase Deficiency
Tip-toe gait, Ataxia, Failure to thrive, Hypoglycemia, Growth delay, Hyperglycemia, Reduced eye c... ORPHA:3008
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Weight loss, Decreased female libido, Increased circulat... ORPHA:95409
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes... OMIM:269700
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Celiac Disease, Susceptibility To, 1
Weight loss, Short stature, Infertility, Thyroiditis, Type I diabetes mellitus, Ataxia, Failure t... OMIM:212750
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi... ORPHA:79102
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Truncal ataxia, Delayed speech and language development, Simplified gy... OMIM:220111
Mirage Syndrome
Decreased body weight, Short stature, Microphallus, Decreased testicular size, Shawl scrotum, Adr... OMIM:617053
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:218700
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... ORPHA:90695
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Type I diabetes mellitus, Weight loss ORPHA:1979
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Weight loss, Oligospermia, ... ORPHA:85450
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Insulin resistance, Decreased serum leptin, Polycystic ovaries, Decreased a... ORPHA:280365
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Cole Disease
Hyperglycemia OMIM:615522
Huntington Disease-Like 1
Gait ataxia, Weight loss, Delayed speech and language development, Gait disturbance, Dysmetria, R... ORPHA:157941
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Delayed speech and language development, Cachexia, Supernumerary nipple, Failure t... ORPHA:217346
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Weight loss, Increased circulating cortisol level, Increase... ORPHA:913
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Weight loss ORPHA:33355
Multiple Endocrine Neoplasia, Type Iib
Nodular goiter, Parathyroid hyperplasia, Pheochromocytoma, Elevated calcitonin, Medullary thyroid... OMIM:162300
Sheehan Syndrome
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:91355
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Desmoplastic Small Round Cell Tumor
Weight loss, Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Ovarian neoplasm ORPHA:83469
Christianson Syndrome
Gait ataxia, Truncal ataxia, Cachexia, Absent speech, Dysphagia ORPHA:85278
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Short stature, Decreased circul... OMIM:613986
Ataxia-Telangiectasia
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, Short stature, Inability... OMIM:208900
Whipple Disease
Hypothyroidism, Cachexia, Insulin resistance, Ataxia, Erectile dysfunction, Polydipsia ORPHA:3452
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Portal hypertension ORPHA:79319
Aredyld Syndrome
Short stature, Type II diabetes mellitus, Cachexia, Type I diabetes mellitus, Intrauterine growth... ORPHA:1133
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Alexander Disease Type I
Failure to thrive, Cachexia, Ataxia, Dysphagia ORPHA:363717
8P23.1 Microdeletion Syndrome
Weight loss, Short stature, Hypospadias, Attention deficit hyperactivity disorder, Growth delay, ... ORPHA:251071
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm ORPHA:2221
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Weight loss, Thyroid carcinoma, Abnormality of the parathyroid morphol... ORPHA:143
Familial Colorectal Cancer Type X
Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, Pituitary adenoma, Gait disturb... ORPHA:440437
Lynch Syndrome
Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, Pituitary adenoma, Gait disturb... ORPHA:144
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... ORPHA:79086
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612649
Isaacs Syndrome
Weight loss ORPHA:84142
Multiple Endocrine Neoplasia, Type Iia
Parathyroid adenoma, Increased circulating cortisol level, Pheochromocytoma, Elevated calcitonin,... OMIM:171400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Hypospadias... ORPHA:444077
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Increased circulating renin l... ORPHA:171876
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Ataxia, Severe short stature, Loss of ambulation, Expressive language delay, Proport... ORPHA:3208
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Impaired glucose tolerance, Glyco... OMIM:137920
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Weight loss, Gait disturbance, Attention deficit hyperactivity d... ORPHA:216866
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Short stature, Delayed speech and language development, Failure to thrive... ORPHA:264580
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Neoplasm of the pancreas, Neoplasm of the scrotum, Metrorrhagia,... ORPHA:370348
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Severe postnatal growth retardation, Short stature ORPHA:440713
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Delayed speech and language development, Hypoglycemia, Cachexia, Ataxia ORPHA:42
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Vipoma
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... ORPHA:97282
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Familial Multinodular Goiter
Hyperthyroidism, Thyroid carcinoma, Testicular seminoma, Multinodular goiter, Sertoli cell neopla... ORPHA:276399
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormal testis morphology ORPHA:54251
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Growth delay, Primary hypothy... ORPHA:95427
Thyroid Ectopia
Hypothyroidism, Short stature, Growth delay, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Peritoneal Cystic Mesothelioma
Weight loss, Metrorrhagia, Dyspareunia, Menorrhagia ORPHA:168816
Somatostatinoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97283
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Weight loss ORPHA:95626
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm OMIM:614874
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Weight loss, Ovarian carcinoma ORPHA:1333
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Gait disturbance ORPHA:157973
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Gm1 Gangliosidosis
Oral aversion, Abnormality of the scrotum, Short stature, Weight loss, Gait disturbance, Ataxia, ... ORPHA:354
Short Syndrome
Severe short stature, Insulin resistance, Diabetes mellitus, Weight loss ORPHA:3163
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Glycosuria, Failure to thrive, Diabetes mellitus, Hype... OMIM:600001
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Ataxia, Testicular atrophy, Diabetes mellitus, Growth delay, ... OMIM:222300
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Pten Hamartoma Tumor Syndrome
Thyroid adenoma, Multinodular goiter, Thyroid carcinoma, Endometrial carcinoma ORPHA:306498
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia, Growth delay, Short stature ORPHA:95720
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... ORPHA:99889
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... ORPHA:90796
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia OMIM:124000
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Weight loss, Delayed speech and language development, Absent speech, Failure to t... OMIM:619487
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... ORPHA:95699
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss, Increased circulating ACTH level, Increased se... ORPHA:97287
Thymoma
Neoplasm of the thyroid gland, Weight loss, Prostate neoplasm ORPHA:99867
Scorpion Envenomation
Priapism, Glycosuria, Ataxia, Hyperglycemia, Restlessness ORPHA:466677
Cystinosis, Nephropathic
Weight loss, Short stature, Glycosuria, Male hypogonadism, Diabetes mellitus, Delayed puberty, Ma... OMIM:219800
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Cachexia, Absent speech, Failure to thrive in infancy, Intrauterine growth ret... OMIM:616801
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Short stature, Abnormality of circulating cortisol level... ORPHA:320
Dend Syndrome
Hyperglycemia ORPHA:79134
Igg4-Related Retroperitoneal Fibrosis
Impotence, Weight loss, Retrograde ejaculation, Hydrocele testis, Hashimoto thyroiditis, Varicocele ORPHA:49041
Carney Complex, Type 1
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Wilson Disease
Weight loss, Abnormality of the menstrual cycle, Failure to thrive, Difficulty walking, Increased... ORPHA:905
Cushing Disease
Pituitary corticotropic cell adenoma, Memory impairment, Increased circulating cortisol level, Im... ORPHA:96253
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Failure to thrive... ORPHA:71212
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Thyroid carcinoma, Short stature, Cachexia, Hashimoto thyroiditis... ORPHA:109
Glucagonoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97280
Holoprosencephaly-Postaxial Polydactyly Syndrome
Ambiguous genitalia, Hypoplasia of penis, Thyroid hypoplasia, Hypospadias, Cryptorchidism, Abnorm... ORPHA:2166
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:95494
Treacher-Collins Syndrome
Hypoplasia of the thymus, Hypoplasia of penis, Thyroid hypoplasia, Failure to thrive, Abnormality... ORPHA:861
Renal Nutcracker Syndrome
Weight loss, Vulval varicose vein, Infertility, Dyspareunia, Varicocele, Dysmenorrhea ORPHA:71273
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Paraganglioma ORPHA:94080
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Failure to thrive, Severe short-limb dwarfism, Weight loss ORPHA:1842
Mandibuloacral Dysplasia
Hyperinsulinemia, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, P... ORPHA:2457
Ppoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97278
Cowden Syndrome 7
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter OMIM:616858
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Weight loss ORPHA:65682
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Insulin resistance, Retrograde ejaculation, Hypoglycemia ORPHA:230
Erdheim-Chester Disease
Diabetes insipidus, Weight loss, Ataxia, Hypogonadotropic hypogonadism, Polydipsia ORPHA:35687
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Delayed speech and language development, Cachexia, Ataxia, Athetosis ORPHA:52503
Multiple Endocrine Neoplasia Type 2
Parathyroid adenoma, Parathyroid hyperplasia, Pheochromocytoma, Elevated calcitonin, Elevated cir... ORPHA:653
Follicular Lymphoma
Weight loss ORPHA:545
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Weight loss, Short stature, Hypospadias, Micropenis OMIM:613673
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Grfoma
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre... ORPHA:97261
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Insulin resistance, Dysphagia OMIM:613327
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Cachexia, Growth delay ORPHA:75233
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Hypothyroidism, Thyroiditis, Pituitary adenoma, Neoplasm of the adrena... ORPHA:733
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Reduced sperm motility, Infertility OMIM:615444
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Vaginal neoplasm, Failure to thrive, Dysphagia, Uterine neoplasm, Abnormality of the... ORPHA:1018
Pfapa Syndrome
Weight loss ORPHA:42642
Mast Cell Sarcoma
Weight loss ORPHA:66661
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Turner Syndrome Due To Structural X Chromosome Anomalies
Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame... ORPHA:99413
Turner Syndrome
Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame... ORPHA:881
Mosaic Monosomy X
Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame... ORPHA:99228
Monosomy X
Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame... ORPHA:99226
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Pelizaeus-Merzbacher Disease
Short stature, Choreoathetosis, Cachexia, Gait disturbance, Ataxia, Failure to thrive in infancy ORPHA:702
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Delayed speech and language development, Cachexia, Absent speech, Severe failure t... ORPHA:371364
Immunodeficiency 31C
Hypothyroidism, Short stature, Weight loss, Diabetes mellitus, Delayed puberty, Growth delay OMIM:614162
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Acute Promyelocytic Leukemia
Metrorrhagia, Alcoholism, Weight loss ORPHA:520
Rhabdoid Tumor