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Gene: Wfs1 MGI:1328355

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Autism, Susceptibility To, 20
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia 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, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Hype... ORPHA:329249
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Childhood Disintegrative Disorder
Bowel incontinence, Social and occupational deterioration, Dementia, Abnormal emotion, Progressiv... ORPHA:168782
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... OMIM:614962
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Short stature, Precocious puberty, Insulin-resistant dia... OMIM:262190
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Shyness OMIM:618221
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growt... OMIM:601410
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Short sta... ORPHA:314811
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Wolfram-Like Syndrome
Diabetes mellitus, Depression, Progressive cerebellar ataxia, Severe postnatal growth retardation... ORPHA:411590
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Bangstad Syndrome
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Progressive... OMIM:210740
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... ORPHA:171706
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased s... ORPHA:100083
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, Obesity, Primary amenorrhea,... OMIM:619737
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pri... OMIM:604367
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp... OMIM:188570
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Sev... OMIM:246200
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Weight loss, Infertility, Erectile ... ORPHA:465508
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... OMIM:300148
Bardet-Biedl Syndrome 9
Polydipsia, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... ORPHA:314802
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Depression, Progressive cerebellar ... ORPHA:248111
Bangstad Syndrome
Short stature, Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyperinsulinemia, Obesity, Seconda... ORPHA:3085
Erythrokeratodermia Variabilis
Diabetes mellitus, Short stature, Abnormal testis morphology, Weight loss ORPHA:317
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Sho... ORPHA:209905
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... ORPHA:276575
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... ORPHA:3077
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Solitary Fibrous Tumor
Hypoglycemia, Vaginal neoplasm, Weight loss, Recurrent hypoglycemia, Prostate cancer, Hypoinsulin... ORPHA:2126
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Failure to thrive, Adrenal hypopl... ORPHA:95496
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar... OMIM:606176
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Pituitary hypothy... ORPHA:90674
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... ORPHA:163634
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Reduced sperm motility, Infertility, Difficulty walking, Truncal ataxia... ORPHA:320391
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia ORPHA:2022
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Abnormal ... OMIM:614736
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R... OMIM:262400
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
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Essential Fructosuria
Hyperglycemia ORPHA:2056
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
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
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive impairment, Attention de... ORPHA:369873
Wolfram-Like Syndrome, Autosomal Dominant
Diabetes mellitus, Impaired glucose tolerance, Type II diabetes mellitus OMIM:614296
Anaplastic Thyroid Carcinoma
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter ORPHA:142
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Weight loss, Pheochromocytoma, Elevated circulating calci... ORPHA:1332
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Short stature, Postna... OMIM:616113
Thyroid Dyshormonogenesis 5
Growth delay, Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Growth delay, Hypothyroidism, Goiter OMIM:274800
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Birth length ... OMIM:269880
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Short stature, Precocious ... ORPHA:769
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Cryptorchidism, Dysphagia, Intrauterine growth retardation, Failure to thrive OMIM:618958
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Inc... ORPHA:525731
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Short stature, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic hypogly... OMIM:616033
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Moynahan Syndrome
Short stature, Hypogonadism, Cachexia ORPHA:2574
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Moderate postnatal growth retarda... ORPHA:69076
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Hypoglycemia, Small for gestational age, Postnatal grow... ORPHA:397590
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Addictive alcohol... ORPHA:399
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Abnormal external genitalia, Hypoglycemia, Short stature, Postnatal gr... ORPHA:231140
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Lead Poisoning
Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,... ORPHA:330015
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... ORPHA:79085
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Pulmonary Blastoma
Weight loss ORPHA:64741
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestatio... ORPHA:79237
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight ORPHA:1672
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardati... ORPHA:73272
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Intrauterine growth retardation, Hypoglycemia, External genital hypopl... ORPHA:231147
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Hypogonadism, Hypoglycemia ORPHA:163693
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Increas... ORPHA:90791
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance OMIM:604484
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Thyroid Lymphoma
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Primary hypercortisolism, Paradoxical increased co... OMIM:610475
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Renpenning Syndrome
Severe short stature, Diabetes mellitus, Hypospadias, Cachexia, Growth delay, Decreased testicula... ORPHA:3242
Perlman Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... ORPHA:435660
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... ORPHA:813
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... ORPHA:90794
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Thyroid Dyshormonogenesis 1
Growth delay, Hypothyroidism, Goiter OMIM:274400
Thyrocerebroretinal Syndrome
Ataxia, Goiter OMIM:274240
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Beta-Ketothiolase Deficiency
Hypoglycemia, Ataxia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia ORPHA:134
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nonprogressive cerebellar ataxia ORPHA:3327
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... ORPHA:85138
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Short attention span, Abnormal social behavior, Attention deficit hyperacti... ORPHA:444002
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... ORPHA:3047
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abnormal soc... ORPHA:1020
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556037
Young-Onset Parkinson Disease
Short attention span, Restless legs, Gastroparesis, Impulsivity, Diarrhea, Depression, Frontal lo... ORPHA:2828
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Addictive alcohol use, Hyperglycemia ORPHA:90065
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... ORPHA:508
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... OMIM:610600
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556030
Hsd10 Disease
Short attention span, Abnormal social behavior, Dysphagia ORPHA:391417
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Tuberculosis
Weight loss ORPHA:3389
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Pendred Syndrome
Hyperparathyroidism, Ataxia, Thyroid carcinoma, Hypothyroidism, Goiter ORPHA:705
Atypical Werner Syndrome
Decreased body weight, Diabetes mellitus, Premature ovarian insufficiency, Failure to thrive, Sho... ORPHA:79474
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyper... OMIM:609069
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypogl... ORPHA:199299
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose intolerance, Hypergl... OMIM:608612
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Growth delay, Fasting hypoglycemia, Glycosuria, Po... ORPHA:2088
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Insulin resis... ORPHA:528
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Cyanosis, Short stature, Decreased response to growth hormone stimulation test, Centr... ORPHA:293987
Hereditary Central Diabetes Insipidus
Growth delay, Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Glycosuria,... ORPHA:99885
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Blepharochalasis And Double Lip
Goiter OMIM:109900
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... ORPHA:226307
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... OMIM:301035
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... ORPHA:90790
Central Diabetes Insipidus
Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovari... OMIM:151660
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Ataxia, Gait ataxia, Glucose intolerance, Gait disturbance, D... ORPHA:254892
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Bachmann-Bupp Syndrome
Hypoglycemia, Aggressive behavior, Large for gestational age, Cryptorchidism, Focal polymicrogyri... OMIM:619075
Flynn-Aird Syndrome
Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabet... ORPHA:2047
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... ORPHA:263455
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Annular pa... OMIM:615710
Spondylometaphyseal Dysplasia, Axial
Disproportionate short-trunk short stature, Rhizomelia, Short stature, Reduced sperm motility OMIM:602271
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... ORPHA:449291
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Necrotizing Enterocolitis
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Dysphagia ORPHA:298
Citrullinemia Type Ii
Restlessness, Hyperactivity, Hypertriglyceridemia, Hypercholesterolemia, Confusion, Decreased bod... ORPHA:247585
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... ORPHA:2905
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... ORPHA:101039
Laron Syndrome
Hypoplasia of penis, Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Tru... ORPHA:633
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Pyruvate Carboxylase Deficiency
Hypoglycemia, Ataxia, Anorexia, Growth delay, Tip-toe gait, Compulsive behaviors, Abnormal temper... ORPHA:3008
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Salt craving, Adrena... ORPHA:95409
Mandibuloacral Dysplasia With Type A Lipodystrophy
Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabetes mellitus, Hy... OMIM:248370
Reni Syndrome
Hypoglycemia, Ataxia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroi... OMIM:617575
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Weight loss, Difficulty walking, Impaired oropharyngeal swallow respon... ORPHA:98897
Celiac Disease, Susceptibility To, 1
Short stature, Ataxia, Postnatal growth retardation, Thyroiditis, Weight loss, Infertility, Delay... OMIM:212750
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm ORPHA:83469
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Rett Syndrome
Inability to walk, Agitation, Gait disturbance, Increased serum leptin, Difficulty walking, Failu... ORPHA:778
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Hyperactivity, Short stature, Broad-based gait, Cachexia, Aggressive behavio... ORPHA:85293
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia ORPHA:363400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, In... ORPHA:168558
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Short stature, Immotile sperm, Abnormal central microtubular pair morphol... OMIM:612650
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Christianson Syndrome
Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repetitive man... ORPHA:85278
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, At... ORPHA:201
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Spinocerebellar Ataxia 48
Ataxia, Cachexia, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Whipple Disease
Ataxia, Cachexia, Anorexia, Insulin resistance, Erectile dysfunction, Polydipsia, Hypothyroidism ORPHA:3452
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Hypoglycemia, Short stature, Cry... OMIM:617053
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Attention deficit... ORPHA:251071
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato... OMIM:612649
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hy... OMIM:608594
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Anorexia, Precocious puberty, Ovarian neoplasm, Weight lo... ORPHA:370348
Cole Disease
Hyperglycemia OMIM:615522
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Cachexia, Weight loss ORPHA:1979
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... OMIM:613986
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... ORPHA:217346
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hyperinsulinemia, Dec... OMIM:269700
Wilson Disease
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... ORPHA:905
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Weight loss, Ovarian carcinoma ORPHA:1333
Metachromatic Leukodystrophy, Adult Form
Short attention span, Bowel incontinence, Progressive psychomotor deterioration, Depression, Emot... ORPHA:309271
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum leptin, Insulin res... ORPHA:280365
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Aredyld Syndrome
Short stature, Cachexia, Type II diabetes mellitus, Type I diabetes mellitus, Intrauterine growth... ORPHA:1133
Alexander Disease Type I
Failure to thrive, Ataxia, Cachexia, Dysphagia ORPHA:363717
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Anorexia, Increased circulating ACTH level, Pu... ORPHA:97287
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calcitonin concentration, Pa... OMIM:162300
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Hypospadias, Hypoglycemia, Ataxia, Truncal ataxia, Dysmetria, Simplifi... OMIM:220111
Isaacs Syndrome
Weight loss ORPHA:84142
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Fanconi-Bickel Syndrome
Postnatal growth retardation, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failu... OMIM:227810
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:144
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:440437
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Apparent Mineralocorticoid Excess
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Polydi... ORPHA:320
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Obesity, Hyper... ORPHA:444077
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... ORPHA:216866
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... ORPHA:79086
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Ataxia, Growth delay, Dysphagia, Hypothyroidism, Testicula... OMIM:222300
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm ORPHA:2221
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Severe postnatal growth retardation, Short stature ORPHA:440713
Huntington Disease-Like 1
Restlessness, Dysmetria, Gait ataxia, Weight loss, Gait disturbance ORPHA:157941
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Weight loss ORPHA:65682
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Varicocele, Weight loss, Hydrocele testis, Impotence, Retrograde ejaculation, Hashimoto... ORPHA:49041
Secondary Short Bowel Syndrome
Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Pol... ORPHA:95427
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ... ORPHA:51890
Perry Syndrome
Akinesia, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling gait OMIM:168605
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Glycosuria, Intrauterine growth retarda... OMIM:600001
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100080
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism ORPHA:95712
Huntington Disease-Like 2
Weight loss OMIM:606438
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Ataxia, Proportionate short stature, Weight loss, Loss of ambulation, Intra... ORPHA:3208
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Emotional ... ORPHA:309263
Short Syndrome
Severe short stature, Insulin resistance, Diabetes mellitus, Weight loss ORPHA:3163
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Hypoglycemia, Cachexia ORPHA:42
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Small for gestational age, Hypoglycemia, Short stature, Cryptorchidism... OMIM:307030
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Gm1 Gangliosidosis
Short stature, Ataxia, Unsteady gait, Weight loss, Abnormality of the scrotum, Gait disturbance, ... ORPHA:354
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... OMIM:137920
Thyroid Hypoplasia
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature ORPHA:95720
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hormone level, Ab... ORPHA:90796
Scorpion Envenomation
Restlessness, Ataxia, Glycosuria, Hyperglycemia, Priapism ORPHA:466677
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Abnormalit... ORPHA:97278
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Acute Monoblastic/Monocytic Leukemia
Weight loss, Anorexia, Central hypothyroidism ORPHA:514
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Abnorm... ORPHA:2166
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Ataxia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive OMIM:124000
Dend Syndrome
Hyperglycemia ORPHA:79134
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Aicardi-Goutieres Syndrome 9
Weight loss, Intrauterine growth retardation, Micropenis, Failure to thrive, Hypothyroidism, Self... OMIM:619487
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Classic Hodgkin Lymphoma
Ataxia, Anorexia, Weight loss ORPHA:391
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Oral-pharyngeal... OMIM:219800
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100082
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Anorexia, Weight loss ORPHA:1302
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Retrograde ejaculation, Hyperinsulinemia, Hypoglycemia ORPHA:230
48,Xxxy Syndrome
Irritability, Constipation, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Ab... ORPHA:96263
Thymoma
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss ORPHA:99867
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Neoplasm o... ORPHA:97261
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hy... ORPHA:71212
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Acute Promyelocytic Leukemia
Addictive alcohol use, Metrorrhagia, Anorexia, Weight loss ORPHA:520
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Short stature, Cachexia, Thyroid carcinoma, Hashimo... ORPHA:109
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Holocarboxylase Synthetase Deficiency
Growth delay, Ataxia, Anorexia, Weight loss ORPHA:79242
Mandibuloacral Dysplasia
Postnatal growth retardation, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsul... ORPHA:2457
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Follicular Lymphoma
Weight loss ORPHA:545
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Primary hyperparat... ORPHA:653
Neuroendocrine Tumor Of Stomach
Anorexia, Increased circulating ACTH level, Weight loss, Increased serum serotonin, Paraganglioma... ORPHA:100075
Erdheim-Chester Disease
Ataxia, Hypogonadotropic hypogonadism, Weight loss, Polydipsia, Diabetes insipidus ORPHA:35687
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Short stature, Cachexia, Athetosis, Self-mutilation ORPHA:52503
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Dysphagia OMIM:613327
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Weight loss, Increased serum serotonin, Carcinoid tumor, Neuroendocrine neoplasm ORPHA:100085
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Hypospadias, Weight loss, Micropenis, Hypothyroidism OMIM:613673
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele ORPHA:71273
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Perlman Syndrome
Large for gestational age, Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Microsporidiosis
Cachexia, Anorexia, Abnormality of the parathyroid gland, Thyroiditis, Abnormal endometrium morph... ORPHA:2552
Wolman Disease
Growth delay, Adrenal insufficiency, Adrenal calcification, Cachexia ORPHA:75233
Pfapa Syndrome
Weight loss ORPHA:42642
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Self-injurious behavior, Severe failure to thrive, Intrauterine growth r... ORPHA:371364
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Oromandibular Dystonia
Bruxism, Dysphagia, Weight loss ORPHA:93958
Mast Cell Sarcoma
Weight loss ORPHA:66661
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Immunodeficiency 31C
Diabetes mellitus, Short stature, Weight loss, Growth delay, Delayed puberty, Hypothyroidism OMIM:614162
Pulmonary Alveolar Microlithiasis
Cyanosis, Decreased fertility, Weight loss, Gonadal calcification, Hypoxemia, Testicular microlit... ORPHA:60025
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Ataxia, Anorexia, Weight loss, Recurrent hypoglycemia ORPHA:20
Pelizaeus-Merzbacher Disease
Ataxia, Short stature, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance ORPHA:702
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Dysphagia, Failure to thrive,... ORPHA:1018
Rett Syndrome
Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Stereotypical hand w... OMIM:312750
Rhabdoid Tumor
Weight loss ORPHA:69077
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Self-injurious behavior, Erectile dysfunction, Uteri... ORPHA:649
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Perry Syndrome
Weight loss ORPHA:178509
Fatal Familial Insomnia
Ataxia, Dysphagia, Weight loss OMIM:600072
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed early-childhood social milestone development, Glucose intolerance, Hashimoto thyroiditis,... ORPHA:99413
Turner Syndrome
Delayed early-childhood social milestone development, Glucose intolerance, Hashimoto thyroiditis,... ORPHA:881
Mosaic Monosomy X
Delayed early-childhood social milestone development, Glucose intolerance, Hashimoto thyroiditis,... ORPHA:99228
Monosomy X
Delayed early-childhood social milestone development, Glucose intolerance, Hashimoto thyroiditis,... ORPHA:99226
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Short stature, Cachexia ORPHA:1933
Al Amyloidosis
Abnormal salivary gland morphology, Autonomic erectile dysfunction, Dysphagia, Weight loss ORPHA:85443
Cronkhite-Canada Syndrome
Cachexia, Anorexia ORPHA:2930
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Focal Myositis
Weight loss ORPHA:48918
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Shuffling... ORPHA:740
Fanconi Anemia
Hypospadias, Short stature, Abnormal preputium morphology, Cryptorchidism, Weight loss, Growth de... ORPHA:84
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Abnormality of the endocrine system, ... ORPHA:3385
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of parotid gland, Nodular goiter,... ORPHA:79078
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Multinodular goiter OMIM:620189
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Giant Cell Arteritis
Ataxia, Diabetes insipidus, Anorexia, Weight loss ORPHA:397
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Carney-Stratakis Syndrome
Dysphagia, Paraganglioma, Weight loss ORPHA:97286
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Weight loss ORPHA:47
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Weight loss ORPHA:79127
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking, Dysphagia ORPHA:300605
Nestor-Guillermo Progeria Syndrome
Growth delay, Failure to thrive, Short stature, Decreased serum leptin OMIM:614008
Eosinophilic Gastroenteritis
Dysphagia, Weight loss ORPHA:2070
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:29072
Gerstmann-Straussler Disease
Aggressive behavior, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia OMIM:137440
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:276621
Polymyositis
Gait disturbance, Anorexia, Weight loss ORPHA:732
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Weight loss, Agitation, Shuffling gait, Dysphagia ORPHA:411602
Aggressive Systemic Mastocytosis
Anorexia, Weight loss ORPHA:98850
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Idiopathic Chronic Eosinophilic Pneumonia
Hypoxemia, Weight loss ORPHA:2902
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Kaposi Sarcoma
Weight loss ORPHA:33276
Fg Syndrome Type 1
Constipation, Gastroesophageal reflux, Compulsive behaviors, Attention deficit hyperactivity diso... ORPHA:93932
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Gait disturbance, Dysphagia, Weight loss ORPHA:183
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Short stature, Hypothyroidism, Ectopic thyroid ORPHA:3206
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Osteosarcoma
Weight loss ORPHA:668
Postinfectious Vasculitis
Orchitis, Acrocyanosis, Anorexia, Weight loss ORPHA:48435
Chronic Beryllium Disease
Weight loss ORPHA:133
Diffuse Alveolar Hemorrhage
Hypoxemia, Weight loss ORPHA:90060
Trisomy 18
Short stature, Cachexia, Cryptorchidism, Growth delay, Intrauterine growth retardation, Abnormal ... ORPHA:3380
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Short stature, Cachexia, Anorexia ORPHA:1969
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... ORPHA:37042
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Decreased response to growth hormone stimulation test, Impulsivity, Cryptorchid... OMIM:619503
Cockayne Syndrome
Diabetes mellitus, Severe short stature, Ataxia, Cachexia, Postnatal growth retardation, Cryptorc... ORPHA:191
Polyarteritis Nodosa
Weight loss ORPHA:767
Toxic Epidermal Necrolysis
Polydipsia, Abnormal vagina morphology, Dysphagia, Weight loss ORPHA:537
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Limb ataxia, Growth delay, Azoospermia, Abnormal temper tantrums, Del... ORPHA:2072
Cap Polyposis
Weight loss ORPHA:160148
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Liposarcoma
Weight loss ORPHA:69078
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Anorexia, Weight loss ORPHA:37
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Camurati-Engelmann Disease
Waddling gait, Ataxia, Anorexia, Cachexia, Hypogonadism, Delayed puberty, Slender build ORPHA:1328
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Behçet Disease
Ataxia, Anorexia, Orchitis, Weight loss, Gait disturbance ORPHA:117
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Xfe Progeroid Syndrome
Failure to thrive, Premature ovarian insufficiency, Cachexia, Severe short stature OMIM:610965
Schwartz-Jampel Syndrome
Short stature, Cachexia, Gait disturbance, Attention deficit hyperactivity disorder, Decreased bo... ORPHA:800
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Weight loss ORPHA:100086
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia, Dysphagia OMIM:607459
Stevens-Johnson Syndrome
Dyspareunia, Dysphagia, Weight loss ORPHA:36426
Hermansky-Pudlak Syndrome
Menometrorrhagia, Anorexia, Weight loss ORPHA:79430
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Aggressive behavior, Depression, Dementia, Disinhibition, L... ORPHA:646
Pneumocystosis
Hypoxemia, Weight loss ORPHA:723
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Weight loss ORPHA:221098
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Short stature, Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Coccidioidomycosis
Abnormality of the endocrine system, Abnormality of the male genitalia, Abnormal sperm morphology... ORPHA:228123
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Constipation, Aggressive behavior ORPHA:314647
Yao Syndrome
Weight loss OMIM:617321
Brucellosis
Small for gestational age, Anorexia, Orchitis, Epididymitis, Weight loss, Failure to thrive ORPHA:1304
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:353281
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Neoplasm of the gallbladder, Type I diabetes mellitus, Cholelithiasis ORPHA:171
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased serum leptin OMIM:614098
Alveolar Echinococcosis
Pancreatic cysts, Ataxia, Abnormal adrenal morphology, Weight loss ORPHA:284
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia OMIM:175500
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Loeffler Endocarditis
Weight loss ORPHA:75566
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma ORPHA:730
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Igg4-Related Aortitis
Weight loss ORPHA:449400
Wolfram Syndrome
Diabetes mellitus, Ataxia, Hypogonadism, Delayed puberty, Male hypogonadism, Polydipsia, Diabetes... ORPHA:3463
Lymphoid Interstitial Pneumonia
Hypoxemia, Failure to thrive, Weight loss ORPHA:79128
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Prader-Willi Syndrome Due To Translocation
Head-banging, Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity... ORPHA:177907
Nephroblastoma
Weight loss ORPHA:654
Granulomatosis With Polyangiitis
Prostatitis, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Weight loss ORPHA:900
Caroli Disease
Cholelithiasis, Anorexia, Weight loss ORPHA:53035
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Dysphagia, Cachexia, Weight loss OMIM:603041
Felty Syndrome
Weight loss ORPHA:47612
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Rheumatoid Arthritis
Weight loss OMIM:180300
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Weight loss ORPHA:747
Pemphigus Vulgaris
Weight loss ORPHA:704
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Oculopharyngodistal Myopathy 1
Ataxia, Hypercapnia, Weight loss, Difficulty walking, Dysphagia OMIM:164310
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Refractory Celiac Disease
Weight loss ORPHA:398063
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Increased serum serotonin, Weight loss ORPHA:100078
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss ORPHA:52417
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Weight loss, Hypoxemia, Dysphagia, Failure to thrive ORPHA:2020
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss, Failure to thrive ORPHA:275761
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis ORPHA:449395
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Juvenile Dermatomyositis
Dysphagia, Weight loss ORPHA:93672
Nocardiosis
Abnormality of the adrenal glands, Thyroiditis, Anorexia, Weight loss ORPHA:31204
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Q Fever
Anorexia, Weight loss ORPHA:781
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Budd-Chiari Syndrome
Weight loss ORPHA:131
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Riddle Syndrome
Gait disturbance, Short stature, Ataxia, Weight loss ORPHA:420741
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Hypothyroidism, Weight loss OMIM:615846
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Weight loss, Hypoxemia, Abnormal salivary gland morphology OMIM:181000
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Mucolipidosis Type Ii
Postnatal growth retardation, Inability to walk, Short stature, Weight loss ORPHA:576
Juvenile Polyposis Of Infancy
Cachexia, Short stature, Freckled genitalia ORPHA:79076
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Enlarged polycystic ov... ORPHA:744
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology, Enlarged lacrimal g... ORPHA:797
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Polycythemia Vera
Weight loss ORPHA:729
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Cachexia ORPHA:220295
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Anoperineal fistula, Weight loss OMIM:301074
Klatskin Tumor
Weight loss ORPHA:99978
Chronic Graft Versus Host Disease
Anorexia, Phimosis, Weight loss, Dysphagia, Abnormal vagina morphology ORPHA:99921
Pmm2-Cdg
Hypogonadotropic hypogonadism, Ataxia, Elevated circulating growth hormone concentration, Impaire... ORPHA:79318
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Short stature, Abnormality of neuronal migration, Cachexia ORPHA:647
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Ataxia, Anorexia, Weight loss ORPHA:50918
Rat-Bite Fever
Parotitis, Weight loss ORPHA:31205
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Anorexia, Weight loss OMIM:619381
Familial Thrombocytosis
Weight loss ORPHA:71493
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363958
Castleman Disease
Weight loss ORPHA:160
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss ORPHA:309031
Multiple Myeloma
Weight loss ORPHA:29073
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Dermatomyositis
Acrocyanosis, Weight loss ORPHA:221
Reactive Arthritis
Weight loss ORPHA:29207
Marfan Syndrome
Attention deficit hyperactivity disorder, Slender build, Cachexia ORPHA:558
Williams Syndrome
Depression, Constipation, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Comp... ORPHA:904
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Weight loss ORPHA:91500
Stickler Syndrome
Short stature, Slender build, Cachexia ORPHA:828
Goodpasture Syndrome
Cyanosis, Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Deafness, Autosomal Dominant 6
OMIM:600965
Cataract 41
OMIM:116400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wfs1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wfs1.

No publications found that use IMPC mice or data for Wfs1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wfs1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wfs1em1(IMPC)Ccpcz Exon Deletion Mice
Wfs1tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Wfs1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Wfs1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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