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
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Dec... OMIM:614962
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Intrauterine growth retardation, Severe failure to thrive, ... OMIM:601410
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... ORPHA:453533
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... ORPHA:314811
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyr... OMIM:616113
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi... ORPHA:79084
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... ORPHA:171706
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... OMIM:275000
Bangstad Syndrome
Progressive cerebellar ataxia, Severe short stature, Small for gestational age, Insulin-resistant... OMIM:210740
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Primary amenorrhea, Maternal dia... OMIM:604367
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Memory impairment, Falls, Motor deteriorat... ORPHA:412066
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, Primary amenorrhea, Obesity,... OMIM:619737
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovari... OMIM:246200
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Wolfram-Like Syndrome
Glucose intolerance, Progressive cerebellar ataxia, Depression, Severe postnatal growth retardati... ORPHA:411590
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity... ORPHA:181393
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Glycosuria, Athetosis, Delayed social development, Type I diabetes mel... OMIM:618857
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... ORPHA:2298
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276580
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Short Stature Due To Partial Ghr Deficiency
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... ORPHA:314802
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Chorea, Weight loss, Irritability, Dementia OMIM:606438
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Attention deficit hyperactivity disorder, Impaired sensiti... OMIM:188570
Mehmo Syndrome
Inability to walk, Decreased response to growth hormone stimulation test, Micropenis, Small for g... OMIM:300148
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Solitary Fibrous Tumor/Hemangiopericytoma
Uterine neoplasm, Hypoinsulinemia, Prostate cancer, Recurrent hypoglycemia, Hypoglycemia, Weight ... ORPHA:2126
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276575
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Unsteady gait, Hyperglycemia OMIM:520000
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... OMIM:262700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Secon... ORPHA:3085
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Short stature, No social interaction, Polyphagia, Obesity, Impaired social inte... ORPHA:329249
Huntington Disease
Gait imbalance, Inability to walk, Mental deterioration, Chorea, Difficulty walking, Weight loss,... ORPHA:399
Bardet-Biedl Syndrome 9
Polydipsia, Irregular menstruation, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Mental deterioration, Cachexia, Anxiety, Chorea, Gait ataxia, Dysp... OMIM:618093
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Infertility, Ataxia, Reduced sperm motility, Truncal ataxia, Difficulty walking... ORPHA:320391
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Growth dela... OMIM:262400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... ORPHA:248111
Bangstad Syndrome
Ataxia, Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the... ORPHA:1227
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... OMIM:606176
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Ataxia, Abnormality of the thyroid gland, Hyperactivity, S... ORPHA:209905
Maffucci Syndrome
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Short stature, Neoplasm of the adrenal ... ORPHA:163634
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hyperglycemia OMIM:175700
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... ORPHA:791
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary ... ORPHA:95496
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Erythrokeratodermia Variabilis
Weight loss, Short stature, Abnormal testis morphology, Diabetes mellitus ORPHA:317
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Hyperglycemia OMIM:618970
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Secondary amenorrhea, Premature ovarian insufficiency OMIM:617175
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Polydipsia, Precocious puberty, I... ORPHA:769
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Growth delay, Abnormal prolactin level, Decreased response to growth hor... ORPHA:95619
Estrogen Resistance
Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea, Impaired glu... OMIM:615363
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Dysphagia, Weight loss, Nodular goiter, Goiter ORPHA:142
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Hypothyroidism, Short stature ORPHA:226292
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Failure to thrive, Ataxia, Hyperglycemia OMIM:220111
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Wolfram-Like Syndrome, Autosomal Dominant
Type II diabetes mellitus, Depression, Anxiety, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Hypogonadism OMIM:617872
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Elevated c... ORPHA:1332
Moynahan Syndrome
Cachexia, Short stature, Hypogonadism ORPHA:2574
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Abnormal external genitalia, Small for gestational age, Short stature, Hyp... ORPHA:231140
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone... ORPHA:424
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Hyperactivity, Increased circulating free T3, Incr... ORPHA:525731
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity OMIM:617885
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
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Congenital Hypothyroidism
Abnormality of the thyroid gland, Short stature, Thyroid dysgenesis, Anterior hypopituitarism, Hy... ORPHA:442
Pancreatic And Cerebellar Agenesis
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglycemia OMIM:609069
Short Syndrome
Glucose intolerance, Small for gestational age, Birth length less than 3rd percentile, Insulin-re... OMIM:269880
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:319487
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Intrauterine growth retardation, External genital hypoplasia, Small for gestational... ORPHA:231147
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis ORPHA:1672
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Infertility, Goiter OMIM:617577
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, ... ORPHA:79085
Hyperthyroidism, Nonautoimmune
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyroid hyperplasia, Goiter OMIM:609152
Tsh-Secreting Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... ORPHA:91347
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypothyroidism, Hypoglycemia... ORPHA:397590
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Weight loss, Hyperthyroidism OMIM:613239
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight lo... ORPHA:99819
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Cryptorchidism OMIM:614736
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Hyperactivity, Small for gestational a... ORPHA:73272
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Growth delay, Hypogonadism ORPHA:163693
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... OMIM:262600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss, Hyperthyroidism OMIM:188580
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... ORPHA:226313
Glutaric Aciduria Iii
Failure to thrive, Goiter, Hyperthyroidism OMIM:231690
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Pulmonary Blastoma
Weight loss ORPHA:64741
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Short stature, Primary amenorrhea, Delayed puberty, Delayed thelar... OMIM:616033
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Goiter, Papillary thyroid carcinoma ORPHA:97290
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Lead Poisoning
Infertility, Decreased male libido, Small for gestational age, Reduced sperm motility, Oligosperm... ORPHA:330015
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia, Dysphagia, Cryptorchidism, Intrauterine growth retardation OMIM:618958
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... ORPHA:562
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Short stature, Shuffling... ORPHA:3077
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Classic Galactosemia
Gait imbalance, Ataxia, Primary amenorrhea, Oligomenorrhea, Decreased fertility in females, Gait ... ORPHA:79239
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, ... ORPHA:435660
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Short stature, Hypoglycemia, Adrenocortical hyp... OMIM:307030
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Thyrocerebroretinal Syndrome
Goiter, Ataxia OMIM:274240
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter OMIM:274400
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... ORPHA:508
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Short stature, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Euthyroid goiter ORPHA:3327
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Dysphagia, Goiter ORPHA:97285
Cowden Syndrome 6
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Thyroid aden... OMIM:615109
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Cowden Syndrome 5
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... OMIM:615108
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter OMIM:255900
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Insulin resistanc... ORPHA:528
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, Pancreatic h... ORPHA:99885
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Hypoglycemia, Intrauterine growt... ORPHA:48431
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556037
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Perry Syndrome
Apathy, Akinesia, Bradykinesia, Depression, Anxiety, Inappropriate behavior, Suicidal ideation, D... OMIM:168605
Young-Onset Parkinson Disease
Apathy, Impulsivity, Constipation, Cognitive impairment, Depression, Anxiety, Panic attack, Diarr... ORPHA:2828
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Growth delay, Hypergl... OMIM:608612
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Impaired glucose tolerance, Diabetes m... ORPHA:2088
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Short stature, Abno... ORPHA:813
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Ovarian neoplasm, Decreased body ... ORPHA:79474
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556030
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Pendred Syndrome
Ataxia, Thyroid carcinoma, Hypothyroidism, Hyperparathyroidism, Goiter ORPHA:705
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... OMIM:610600
Tuberculosis
Weight loss ORPHA:3389
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hypoplasia of penis ORPHA:2849
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Short stature, Hypergona... OMIM:203800
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Renpenning Syndrome
Severe short stature, Cachexia, Hypospadias, Decreased testicular size, Diabetes mellitus, Growth... ORPHA:3242
Beta-Ketothiolase Deficiency
Ataxia, Oral aversion, Hypoglycemia, Weight loss, Hyperglycemia ORPHA:134
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Cowden Syndrome 1
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Ovarian carc... OMIM:158350
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Labial pseudohy... OMIM:151660
Blepharochalasis And Double Lip
Goiter OMIM:109900
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:614963
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease... ORPHA:85138
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development,... ORPHA:785
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Impotence, Intestinal ... ORPHA:652
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Failure to thrive, Growth delay, Severe short stature, Thyroid dysgenesis, Ectopic thyroid, Hypot... ORPHA:3047
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... OMIM:167800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... ORPHA:226307
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
Inflammatory Pseudotumor Of The Liver
Weight loss, Diabetes mellitus ORPHA:90003
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased response to growth hormone stimulat... ORPHA:293987
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism, Hyperglycemia ORPHA:90065
Pallister-Hall Syndrome
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... OMIM:146510
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss, Polydipsia, Diabetes insipidus ORPHA:30925
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Ataxia, Glucose intolerance, Hyperthyroidism, Hypothyroidism, Gait disturbance... ORPHA:254892
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Laron Syndrome
Abnormality of the endocrine system, Severe short stature, Hypoplasia of penis, Truncal obesity, ... ORPHA:633
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Decreased circulating T4 concentration, Reduced circulating prolactin concentration... ORPHA:99832
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Poems Syndrome
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... ORPHA:2905
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Ataxia, Micropenis, Hypothyroidism, Hypoglycemia, Hypogonadism, Cryptorchi... OMIM:617575
Flynn-Aird Syndrome
Ataxia, Abnormality of the thyroid gland, Type II diabetes mellitus, Cachexia, Primary adrenal in... ORPHA:2047
Woodhouse-Sakati Syndrome
Growth delay, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to... ORPHA:3464
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Short... ORPHA:309246
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Intrauter... OMIM:176270
Mcdonough Syndrome
Cachexia, Cryptorchidism, Short stature ORPHA:2471
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Abnormal social behavior, Memory impairment, Disinhibition, Dementia ORPHA:1020
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... OMIM:260370
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
Spondylometaphyseal Dysplasia, Axial
Disproportionate short-trunk short stature, Rhizomelia, Short stature, Reduced sperm motility OMIM:602271
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Reactive... OMIM:600955
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Dysphagia, Weight loss ORPHA:298
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Mandibuloacral Dysplasia With Type A Lipodystrophy
Growth delay, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... OMIM:248370
Hemochromatosis, Type 1
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Di... OMIM:235200
Dopa-Responsive Dystonia
Agoraphobia, Constipation, Abnormal social behavior, Depression, Anxiety, Panic attack, Vomiting,... ORPHA:255
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Tenorio Syndrome
Gait disturbance, Hypoglycemia, Hypoinsulinemia OMIM:616260
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Oculopharyngodistal Myopathy
Loss of ambulation, Impaired oropharyngeal swallow response, Difficulty walking, Weight loss, Ora... ORPHA:98897
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus ORPHA:371428
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Cowden Syndrome
Failure to thrive, Ataxia, Abnormality of the thyroid gland, Short stature, Abnormal penis morpho... ORPHA:201
Pyruvate Carboxylase Deficiency
Failure to thrive, Ataxia, Poor eye contact, Tip-toe gait, Hypoglycemia, Growth delay, Hyperglycemia ORPHA:3008
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Ataxia OMIM:613662
Central Diabetes Insipidus
Failure to thrive, Weight loss, Polydipsia, Diabetes insipidus ORPHA:178029
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Gait ataxia, Cachexia OMIM:612075
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Thyrotoxicosis with toxic single thy... ORPHA:79102
Hirschsprung Disease
Weight loss, Short stature, Failure to thrive in infancy, Neoplasm of the thyroid gland ORPHA:388
Hypothyroidism, Congenital, Nongoitrous, 5
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Growth delay OMIM:225250
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Bachmann-Bupp Syndrome
Large for gestational age, Hypoglycemia, Focal polymicrogyria, Attention deficit hyperactivity di... OMIM:619075
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hyperactivity, Gait ataxia, Insulin resistance ORPHA:363400
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Decreased fertility in females, Insulin-resistant diabe... OMIM:608594
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... ORPHA:90695
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Celiac Disease, Susceptibility To, 1
Failure to thrive, Infertility, Ataxia, Short stature, Type I diabetes mellitus, Delayed puberty,... OMIM:212750
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased serum leptin, Decreased fertility in femal... OMIM:269700
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Immotil... OMIM:612650
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Type I diabetes mellitus ORPHA:1979
Attrv30M Amyloidosis
Weight loss, Impotence ORPHA:85447
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Insulin resistance, Decreased serum leptin, Secondary amenorrhea, Diabetes mellitus... ORPHA:280365
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Short stature, Hypergonadotropic hypogonadism, Hypo... OMIM:617053
Multiple Endocrine Neoplasia, Type Iib
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Parathyroid h... OMIM:162300
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te... ORPHA:85450
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hyperactivity, Hypoplasia of penis, Short stature, Cachexia, Decreased testicul... ORPHA:85293
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Hypothyroidism, Congenital, Nongoitrous, 9
Short stature, Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Cent... OMIM:301035
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Cent... ORPHA:91355
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:98293
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Cachexia, Testicular neoplasm, Weight loss ORPHA:83469
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Portal hypertension ORPHA:79319
Whipple Disease
Polydipsia, Ataxia, Cachexia, Hypothyroidism, Erectile dysfunction, Insulin resistance ORPHA:3452
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Reduced... OMIM:612649
Aredyld Syndrome
Type II diabetes mellitus, Short stature, Cachexia, Type I diabetes mellitus, Intrauterine growth... ORPHA:1133
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced s... OMIM:137920
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Polycystic ovaries, Acute pancreatitis, Insulin-resist... ORPHA:79086
Vipoma
Elevated calcitonin, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid glan... ORPHA:97282
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm ORPHA:2221
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypospadias, Hypothyroidism... ORPHA:444077
Isaacs Syndrome
Weight loss ORPHA:84142
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... ORPHA:90673
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Rett Syndrome
Failure to thrive, Inability to walk, Increased serum leptin, Gait disturbance, Difficulty walking ORPHA:778
8P23.1 Microdeletion Syndrome
Growth delay, Short stature, Hypospadias, Weight loss, Attention deficit hyperactivity disorder, ... ORPHA:251071
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Bifid scrotum, Hypospadias, Cachexia, Growth delay, Cryp... ORPHA:217346
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating th... OMIM:218700
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... ORPHA:171876
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity disorder, Dysp... ORPHA:216866
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormal testis morphology ORPHA:54251
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Severe postnatal growth retardation, Short stature ORPHA:440713
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Memory impairment, E... ORPHA:309271
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pituitary adenoma, Uterine neoplasm, Gait disturbance, Attention defici... ORPHA:440437
Lynch Syndrome
Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Gait disturbance, Attention defici... ORPHA:144
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Thyroid Ectopia
Abnormality of the thyroid gland, Short stature, Ectopic thyroid, Hypothyroidism, Growth delay ORPHA:95712
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Somatostatinoma
Neoplasm of the pancreas, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitar... ORPHA:97283
Christianson Syndrome
Dysphagia, Cachexia, Gait ataxia, Truncal ataxia ORPHA:85278
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Polydipsia, Thyroid carcinoma, Parathyroid carcinoma, ... ORPHA:143
Peritoneal Cystic Mesothelioma
Weight loss, Menorrhagia, Dyspareunia, Metrorrhagia ORPHA:168816
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Weight loss, Ovarian carcinoma, Diabetes mellitus ORPHA:1333
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Metrorrhagia, W... ORPHA:370348
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Glycosuria, Pancreatic hypoplasia, Absent gallbladder, Diabetes mellitus, Intr... OMIM:600001
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Short Syndrome
Insulin resistance, Weight loss, Severe short stature, Diabetes mellitus ORPHA:3163
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Gm1 Gangliosidosis
Failure to thrive, Ataxia, Oral aversion, Short stature, Gait disturbance, Unsteady gait, Dysphag... ORPHA:354
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter ORPHA:276399
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Dysmenorrhea, Short stature, Oligomenorrhea, Irregular menstruat... ORPHA:264580
Hsd10 Disease
Dysphagia, Abnormal social behavior ORPHA:391417
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Primary hypothyroidism, Growth delay, Weight loss, Central hypothy... ORPHA:95427
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Thyroid Hypoplasia
Hypothyroidism, Growth delay, Thyroid hypoplasia, Short stature ORPHA:95720
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con... ORPHA:90796
Wolfram Syndrome 1
Testicular atrophy, Ataxia, Hypothyroidism, Diabetes mellitus, Dysphagia, Growth delay, Diabetes ... OMIM:222300
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... ORPHA:99889
Pten Hamartoma Tumor Syndrome
Multinodular goiter, Endometrial carcinoma, Thyroid carcinoma, Thyroid adenoma ORPHA:306498
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Elevated circulating growth hormone concentration, Increased circulati... ORPHA:97287
Huntington Disease-Like 1
Gait disturbance, Weight loss, Gait ataxia, Dysmetria ORPHA:157941
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Thymoma
Weight loss, Prostate neoplasm, Neoplasm of the thyroid gland ORPHA:99867
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cachexia, Ataxia ORPHA:42
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... ORPHA:95699
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia, Diabetes insipidus ORPHA:95626
Dend Syndrome
Hyperglycemia ORPHA:79134
Wilson Disease
Failure to thrive, Abnormality of the menstrual cycle, Difficulty walking, Increased body weight,... ORPHA:905
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Ataxia, Severe short stature, Proportionate short stature, Weight loss, Intra... ORPHA:3208
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:96253
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Impotence, Varicocele, Retrograde ejaculation, Hashimoto thyroiditis, Weight loss ORPHA:49041
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Cystinosis, Nephropathic
Polydipsia, Short stature, Glycosuria, Failure to thrive in infancy, Dysphagia, Male infertility,... OMIM:219800
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... OMIM:160980
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Scorpion Envenomation
Ataxia, Glycosuria, Priapism, Hyperglycemia ORPHA:466677
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Thyroid carcinoma, Short stature, Cachexia, Neoplasm of the adrenal cortex, Hyp... ORPHA:109
Combined Pituitary Hormone Deficiencies, Genetic Forms
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... ORPHA:95494
Thymic Carcinoma
Weight loss, Neoplasm of the thymus ORPHA:99868
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulati... ORPHA:97280
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive psychomotor deterioration, Emotional lability ORPHA:309263
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Severe short-limb dwarfism, Rhizomelia ORPHA:1842
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Parathyroid adenoma, Elevated circulating parathyroid hormone level,... ORPHA:653
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Polydipsia, Short stature, Abnormalit... ORPHA:320
Aicardi-Goutieres Syndrome 9
Failure to thrive, Micropenis, Hypothyroidism, Weight loss, Intrauterine growth retardation OMIM:619487
Treacher-Collins Syndrome
Failure to thrive, Hypoplasia of penis, Hypoplasia of the thymus, Abnormality of the adrenal glan... ORPHA:861
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance, P... ORPHA:2457
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Weight loss ORPHA:65682
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97278
Cowden Syndrome 7
Goiter, Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ OMIM:616858
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Paraganglioma ORPHA:94080
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Renal Nutcracker Syndrome
Infertility, Dyspareunia, Dysmenorrhea, Vulval varicose vein, Varicocele, Weight loss ORPHA:71273
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Retrograde ejaculation, Hyperinsulinemia, Insulin resistance ORPHA:230
Erdheim-Chester Disease
Ataxia, Polydipsia, Hypogonadotropic hypogonadism, Weight loss, Diabetes insipidus ORPHA:35687
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Micropenis, Hypospadias, Hypothyroidism, Weight loss OMIM:613673
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... ORPHA:2166
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Inability to walk, Intrauterine growth retardation, Failure to thrive in infancy OMIM:616801
Childhood Absence Epilepsy
Depression, Anxiety, Low self esteem, Abnormal social behavior ORPHA:64280
Follicular Lymphoma
Weight loss ORPHA:545
Grfoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97261
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic fibrosis, Hepatomegaly OMIM:602579
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Wolman Disease
Adrenal insufficiency, Cachexia, Growth delay, Adrenal calcification ORPHA:75233
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Classic Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:391
Pfapa Syndrome
Weight loss ORPHA:42642
Mast Cell Sarcoma
Weight loss ORPHA:66661
Lipodystrophy, Congenital Generalized, Type 4
Dysphagia, Failure to thrive, Hyperinsulinemia, Insulin resistance OMIM:613327
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Testicular microlithiasis, Cyanosis, Gonadal calcification, Hypo... ORPHA:60025
Eosinophilic Fasciitis
Weight loss, Acrocyanosis ORPHA:3165
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Pituitary adenoma, Abnormality of the thyroid gland, Neoplasm of the... ORPHA:733
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Delayed menarche, Pubertal developmental failure in females, Cyanosis, ... ORPHA:740
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:99228
Monosomy X
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:99226
Pelizaeus-Merzbacher Disease
Ataxia, Short stature, Cachexia, Gait disturbance, Choreoathetosis, Failure to thrive in infancy ORPHA:702
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Rhabdoid Tumor
Weight loss ORPHA:69077
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
Fanconi Anemia
Growth delay, Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertilit... ORPHA:84
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Glycosuria, Large for gestational age, Hypoglycemia, Diabetes mellitus OMIM:616026
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia, Short stature ORPHA:1933
Fatal Familial Insomnia
Dysphagia, Weight loss, Ataxia OMIM:600072
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Uterine neoplasm, Abnormality of the female genitalia, Weight loss, Dysphagia,... ORPHA:1018
Microsporidiosis
Thyroiditis, Prostatitis, Abnormal endometrium morphology, Urethritis, Cachexia, Abnormality of t... ORPHA:2552
Takayasu Arteritis
Weight loss ORPHA:3287
Cryptogenic Organizing Pneumonia
Hypoxemia, Weight loss, Cyanosis ORPHA:1302
Inflammatory Bowel Disease (Crohn Disease) 1