Gene Summary

Name:
insulin-like 5
Synonyms:
relaxin/insulin-like factor 2,  RIF2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal anxiety-related response Insl5Insl5 HOM Early adult 2.69×10-09
increased blood uric acid level Insl5Insl5 HOM Early adult 8.99×10-07
hyporesponsive to tactile stimuli Insl5Insl5 HOM   Early adult 2.57×10-05
decreased vertical activity Insl5Insl5 HOM Early adult 5.74×10-05
increased exploration in new environment Insl5Insl5 HOM Early adult 2.48×10-05
abnormal iron homeostasis Insl5Insl5 HOM Early adult 3.94×10-05
abnormal whole-body plethysmography Insl5Insl5 HOM   Early adult 8.55×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Insl5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Insl5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Decreased testicular size, Male i... OMIM:619528
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Isochromosomy Yp
Primary gonadal insufficiency, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic... OMIM:604367
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... ORPHA:99886
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Invasive Mole
Menometrorrhagia ORPHA:99925
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Hyperuricemia, Hypercholesterolemia, Action tremor, Depr... ORPHA:77296
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression OMIM:159900
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Adenomyosis
Dysmenorrhea OMIM:600458
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... ORPHA:412066
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Cognitive impairment, Hyperlipidemia, Hyperuricemia ORPHA:364
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Type 1 Diabetes Mellitus
Hyperglycemia, Polyuria, Diabetes mellitus OMIM:222100
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypog... ORPHA:552
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Tremor, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... ORPHA:280356
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Isochromosomy Yq
Primary gonadal insufficiency, Decreased testicular size, Male infertility, Azoospermia ORPHA:98798
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma, Secondary amenorrhea OMIM:104600
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Bardet-Biedl Syndrome 9
Hyperglycemia, Irregular menstruation, Renal insufficiency OMIM:615986
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance, Primary amenorrhea OMIM:615363
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Primary amenorrhea, Delayed puberty OMIM:616033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... OMIM:262190
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Oligomenorrhea, Diabetes mellitus OMIM:613877
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Amen... ORPHA:465508
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment OMIM:123400
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hyperuricemia ORPHA:3222
X-Linked Sideroblastic Anemia
Dyspnea, Abnormality of iron homeostasis ORPHA:75563
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Cognitive impairment, Hyperuricemia OMIM:617056
Aceruloplasminemia
Dystonia, Aceruloplasminemia, Elevated hepatic iron concentration, Torticollis, Cognitive impairm... ORPHA:48818
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Anxiety, Ga... ORPHA:71517
Lesch-Nyhan Syndrome
Dystonia, Opisthotonus, Self-injurious behavior, Hyperuricemia, Hyperuricosuria OMIM:300322
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Aceruloplasminemia
Dementia, Aceruloplasminemia, Torticollis, Decreased serum iron, Increased circulating ferritin c... OMIM:604290
Lesch-Nyhan Syndrome
Hyperuricemia ORPHA:510
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypoglycemia OMIM:615962
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Nephrolithiasis OMIM:301060
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Pituicytoma
Amenorrhea, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Hypo... ORPHA:251623
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Streak ovary, Azoospermia, Urogenital sinus anomaly, Fema... ORPHA:261529
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia OMIM:608600
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Hypoglycemia, Amenorrhea, Hypogonadotropic hypogonadism, P... ORPHA:95619
Wolfram-Like Syndrome
Glucose intolerance, Male hypogonadism, Diabetes mellitus, Hypothyroidism, Abnormality of the upp... ORPHA:411590
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Perry Syndrome
Respiratory arrest, Dystonia, Inappropriate behavior, Respiratory insufficiency, Suicidal ideatio... OMIM:168605
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Apathy, Hyperuricemia, Hyperammonemia OMIM:246450
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Respiratory insufficiency, Pulmonary arterial hypertension, Hyperuricemia, Hypomagn... OMIM:613845
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Neonatal hyperbilirubinemia, Episodic tachypnea, Hyperalaninemia, Hyp... ORPHA:348
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria OMIM:233100
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Beta-Thalassemia
Abnormality of iron homeostasis, Irritability, Respiratory insufficiency ORPHA:848
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Ataxia, Hyperuricemia OMIM:300661
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... OMIM:610628
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular l... OMIM:619468
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Proximal tubulopathy, Diabetes mellitus, Type I diabetes mellitus, Polyuria OMIM:560000
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Hyperuricemia ORPHA:261222
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Azotemia, Familial
Azotemia OMIM:109160
Hypermanganesemia With Dystonia 1
Dystonia, Unconjugated hyperbilirubinemia, Steppage gait, Bradykinesia, Hypermanganesemia, Tremor... OMIM:613280
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperuricemia, Hprt-Related
Hyperuricosuria, Hyperuricemia OMIM:300323
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Pancreatic islet-cell hyperpla... OMIM:246200
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Polyuria OMIM:615994
Beta-Ketothiolase Deficiency
Tachypnea, Apathy, Cough, Hyperuricemia, Hyperammonemia, Ataxia ORPHA:134
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Fasting hypoglycemia, Generalized aminoaciduria, Hepatocellular ... ORPHA:2088
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia OMIM:606528
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Cystinosis, Nephropathic
Hepatomegaly, Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Spl... OMIM:219800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... ORPHA:3085
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:324575
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Urinary incontinence, Abnormal sp... ORPHA:320391
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Tremor, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, De... OMIM:618093
Ovarian Dysgenesis 1
Primary amenorrhea, Increased circulating gonadotropin level OMIM:233300
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, Hepatic cysts, D... ORPHA:730
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic... ORPHA:79085
Hemochromatosis, Type 2A
Increased serum iron, Increased circulating ferritin concentration, Lethargy OMIM:602390
Parkinsonism With Polyneuropathy
Anxiety, Resting tremor, Depression, Bradykinesia OMIM:619279
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Attention deficit hyperactivity diso... OMIM:261600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Diabetes mellitus, Unilat... OMIM:137920
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Splenomegaly OMIM:602271
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Ovarian Dysgenesis 3
Primary amenorrhea OMIM:614324
Leptin Deficiency Or Dysfunction
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size OMIM:614962
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, F... ORPHA:91
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Hypoglycemia,... ORPHA:79239
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Urinary retention, Polycystic ... ORPHA:2795
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hydronephrosis, Polyuria OMIM:304900
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Placental Site Trophoblastic Tumor
Spontaneous abortion, Metrorrhagia, Amenorrhea ORPHA:99928
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... ORPHA:95496
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary am... OMIM:612526
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Hypoplasia of penis, Hyperin... ORPHA:791
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Bradykinesia, Resting tremor, Anxiety, Blepharospasm, Leg dystonia OMIM:606324
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Abnormal circulating cholesterol concentration, Brady... ORPHA:399
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism, Hypospadias OMIM:175700
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Apathy, Hyperuricemia, Hyperammonemia, Ataxia, Lethargy ORPHA:20
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614880
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Hypospadias, Male sexual dysfunction, Increased serum test... ORPHA:90797
Nephronophthisis 3
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor... OMIM:604387
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hyperuricemia, Hyperuricosuria ORPHA:411543
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Anxiety, Attention deficit hyperactivity disorder, Pulmonary arterial hypertension, Decreased ser... ORPHA:391372
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis OMIM:617872
Hemochromatosis, Type 3
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:604250
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperuricemia OMIM:102730
Cystinuria
Hyperuricemia ORPHA:214
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia ORPHA:411536
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Estrogen Resistance Syndrome
Absence of pubertal development, Glucose intolerance, Absence of secondary sex characteristics, I... ORPHA:785
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Hyperlipidemia, Hyperuricemia ORPHA:35909
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... OMIM:615710
Ovarian Dysgenesis 2
Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hypergonadotropic hypo... OMIM:300510
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Frasier Syndrome
Focal segmental glomerulosclerosis, Streak ovary, Nephrotic syndrome, Decreased serum estradiol, ... ORPHA:347
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypospadias, Elevated circulating follicle stimulating hormon... ORPHA:90793
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary growth hormone ce... OMIM:102200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Increased level of galactitol in urine, Hepatosplenomegaly, Premature... ORPHA:79237
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty OMIM:618117
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Amenorrhea, Azoospermia, Hypogonadotr... OMIM:235200
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hypercalciuria, Polyuria OMIM:613677
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Tremor, Ataxia, Dys... OMIM:615157
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility, Hypercalciuria ORPHA:2239
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
46,Xy Sex Reversal 11
Vanishing testis, Decreased antimullerian hormone level, Elevated circulating follicle stimulatin... OMIM:273250
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Frasier Syndrome
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic k... OMIM:136680
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus OMIM:609069
Hereditary Fructose Intolerance
Hypermagnesemia, Lethargy, Hypophosphatemia, Hyperuricemia ORPHA:469
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Ciliary Dyskinesia, Primary, 14
Male infertility, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impairment ORPHA:163921
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:256100
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Increased urine a... ORPHA:35878
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent ... ORPHA:2126
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Decreased circulating ferritin concentration, Dystonia, Abnormal blood inorgani... ORPHA:309854
Pituitary Gigantism
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Premature pu... ORPHA:99725
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hyperuricemia, Recurrent pneumonia, Asthma, Hypertriglyc... OMIM:203800
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Writer's cramp, Torticollis, Head tremor, Limb tremor, Focal dystonia, Craniofaci... ORPHA:420492
Interstitial Cystitis
Urinary bladder inflammation, Urinary urgency, Abnormality of the menstrual cycle, Pollakisuria, ... ORPHA:37202
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... ORPHA:168782
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resti... OMIM:300623
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility, Abnormal renal morphology ORPHA:48
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Peritonitis ORPHA:168816
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hepatomegaly, Hyperphosphaturia, Aminoaciduria, S... OMIM:239200
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hypercholesterolemia, Hypertr... ORPHA:90041
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Oligomenorrhea, Pituitary hypothyroidism, Impotence, Hypo... ORPHA:91354
Xanthinuria, Type Ii
Hypouricemia OMIM:603592
Nephronophthisis 11
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613550
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Renal tubular dysfunction, Pancreatic hypoplasia, Hyperglycemia,... ORPHA:99885
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Insulin resistance, Poly... ORPHA:528
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating c... OMIM:600955
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Choreoacanthocytosis
Dystonia, Dementia, Elevated circulating creatine kinase concentration, Aggressive behavior, Self... OMIM:200150
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism OMIM:612702
Bartter Syndrome, Type 3
Renal salt wasting, Hyperactive renin-angiotensin system, Increased urinary potassium, Hypocalciu... OMIM:607364
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear/anxiety-related behavior, Hyponatremia, Respiratory insufficiency, Apathy, Ventilat... ORPHA:100924
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Hypouricemia, Pneumonia, Increased circulating inosine concentration, Tremor, Ataxia, ... OMIM:613179
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Galactosemia
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:352
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Primary amenorrhea... OMIM:612964
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Hypoglycemic seizures, Gonadotropin defi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Hypoglycemic seizures, Gonadotropin defi... ORPHA:71526
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic... ORPHA:435660
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Delayed puberty, Bilat... ORPHA:99429
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Oligospermia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Gestational Choriocarcinoma
Spontaneous abortion, Metrorrhagia ORPHA:99926
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Insulin resistance, Insulin... ORPHA:769
Cog2-Cdg
Psychomotor deterioration, Decreased circulating copper concentration, Decreased circulating ceru... ORPHA:435934
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Dystonia, Inappropriate behavior, Cognitive impairment, E... ORPHA:309246
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency OMIM:608996
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity OMIM:616278
Short Syndrome
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia OMIM:269880
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hyperuricemia OMIM:142625
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Re... ORPHA:330015
46,Xy Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Abnormality of the menstrual cycle, Abse... OMIM:400044
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... OMIM:613090
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Stridor, Axial dystonia, Apathy, Bradykinesia, Central sleep apnea, Progressive ... ORPHA:98933
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Glanzmann Thrombasthenia
Macroscopic hematuria, Menorrhagia, Menometrorrhagia ORPHA:849
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Anxiety, Resting tremor OMIM:606703
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Renal insufficiency, Abnormal renal tubule morphology, Chol... ORPHA:440713
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Hyperaldosteron... OMIM:612780
Multiple System Atrophy, Cerebellar Type
Postural tremor, Stridor, Axial dystonia, Apathy, Bradykinesia, Central sleep apnea, Progressive ... ORPHA:227510
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility OMIM:614935
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Renal agenesis, Dysmenorrhea, Metrorrhagia, Dyspareunia ORPHA:3411
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Helix Syndrome
Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Polyuria, Renal insufficiency OMIM:617671
Lassa Fever
Oliguria, Spontaneous abortion, Menometrorrhagia, Jaundice ORPHA:99824
Adenohypophysitis
Hashimoto thyroiditis, Abnormal size of pituitary gland, Amenorrhea, Decreased circulating cortis... ORPHA:95512
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hypoplasia of penis, Nephroblastoma, ... ORPHA:2849
Ciliary Dyskinesia, Primary, 12
Immotile sperm OMIM:612650
Primary Lipodystrophy
Type II diabetes mellitus, Insulin resistance, Polycystic ovaries, Pancreatitis, Menometrorrhagia... ORPHA:90970
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oli... ORPHA:79240
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia, Lethargy OMIM:229600
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased h... ORPHA:263455
Cholera
Abnormality of renal excretion, Decreased urine output, Hypoglycemia, Spontaneous abortion, Acute... ORPHA:173
Panhypophysitis
Increased circulating prolactin concentration, Hashimoto thyroiditis, Abnormal size of pituitary ... ORPHA:95513
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Peritonitis ORPHA:391673
Wolfram Syndrome 2
Oligomenorrhea, Primary amenorrhea, Diabetes mellitus, Neurogenic bladder OMIM:604928
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellul... ORPHA:370
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Hepatic ste... OMIM:151660
Lethal Ataxia With Deafness And Optic Atrophy
Ataxia, Hypouricemia, Respiratory failure requiring assisted ventilation ORPHA:1187
Ovarian Fibrothecoma
Abnormality of the ovary, Increased serum testosterone level, Peritonitis, Metrorrhagia, Ovarian ... ORPHA:314478
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocalcemia, Anxie... ORPHA:36913
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Secondary amenorrhea, Hypospadias, Absence of secondary sex charac... ORPHA:755
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Increased circu... ORPHA:189439
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Hypouricemia, Ataxia ORPHA:760
47,Xyy Syndrome
Oligospermia, Macroorchidism, Increased serum testosterone level, Hypospadias, Azoospermia, Incre... ORPHA:8
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria, Diabetes insipidus OMIM:304800
Sheehan Syndrome
Hypoglycemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency, Breas... ORPHA:91355
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria, Nephrogenic diabetes insipidus OMIM:125800
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... ORPHA:457059
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Atypical Werner Syndrome
Ovarian neoplasm, Secondary amenorrhea, Type II diabetes mellitus, Abnormality of circulating lep... ORPHA:79474
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea OMIM:202110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrh... ORPHA:264580
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Male infertility OMIM:619607
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Dominant Beta-Thalassemia
Dyspnea, Abnormality of iron homeostasis, Irritability ORPHA:231226
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Nephroc... OMIM:601678
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility OMIM:612649
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Oligomenorrhea, Type II diabetes mellitus, Pancreatitis, Hypogonadism, Type I diabet... ORPHA:412057
Cockayne Syndrome
Gait disturbance, Cognitive impairment, Progressive gait ataxia, Intention tremor, Hyperuricemia,... ORPHA:191
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Mednik Syndrome
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:171851
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Hypoglycemia, Amenorrhea, Decreased response to growth hor... ORPHA:90695
Glycogen Storage Disease Ia
Hyperlipidemia, Hyperuricemia OMIM:232200
Gitelman Syndrome
Hypocalciuria, Renal potassium wasting, Nocturia, Enuresis, Increased circulating renin level, Po... OMIM:263800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Cognitive impairment, Epistaxis, Hyperuricemia, Hypercholesterolemia, Pulmonary v... ORPHA:79259
Scorpion Envenomation
Priapism, Hyperglycemia, Glycosuria, Acute kidney injury, Acute pancreatitis, Ketonuria ORPHA:466677
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dyspl... OMIM:146255
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Testicular adrenal rest tumor, Increased circulating androste... ORPHA:90795
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Lig4 Syndrome
Cryptorchidism, Micropenis, Amenorrhea, Hypothyroidism OMIM:606593
Androgen Insensitivity Syndrome
Cryptorchidism, Male infertility, Delayed puberty, Testicular neoplasm ORPHA:754
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618187
Glycogen Storage Disease Ib
Hyperlipidemia, Hyperuricemia OMIM:232220
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia ORPHA:99927
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... ORPHA:300298
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration ORPHA:209919
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Pulmonary arterial hypertension, Elevated hepatic iron concentra... ORPHA:231222
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Steppage gait, Abnormal circulating copper concentration ORPHA:521411
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Glucose intolerance, Impaired glucose tolerance, Nephrolithiasis, Pituitary adeno... OMIM:219090
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:85138
Beta-Thalassemia Major
Dyspnea, Abnormality of iron homeostasis, Irritability ORPHA:231214
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Retrograde ejaculation, Elevated urinary dopamine, Nocturia, Hy... ORPHA:230
Teratoma, Pineal
Polyuria OMIM:273120
Familial Afibrinogenemia
Spontaneous abortion, Menometrorrhagia ORPHA:98880
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Opisthotonus OMIM:615501
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Mccune-Albright Syndrome
Increased serum testosterone level, Renal tubular dysfunction, Goiter, Increased circulating cort... ORPHA:562
Gangliocytoma
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... ORPHA:251937
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Cognitive impairment, Hypoalbuminemia, Hyp... OMIM:222470
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Trichohepatoenteric Syndrome 2
Decreased serum iron OMIM:614602
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Pituitary Apoplexy
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Oligomenor... ORPHA:95613
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Suicidal ideation, Cognitive impairment, Anxiety, Attention deficit hyperact... ORPHA:98784
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Nephrolithiasis... OMIM:269700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Hyperlipidemia, Hyperuricemia OMIM:232240
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Micropenis, Primary gonadal... ORPHA:90796
Leprechaunism
Hepatomegaly, Central hypothyroidism, Fasting hypoglycemia, Long penis, Insulin resistance, Nephr... ORPHA:508
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dyspareunia ORPHA:220393
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Reduced progressive sperm motility OMIM:619608
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Nephrolithiasis... OMIM:608594
Klippel-Trénaunay Syndrome
Hematuria, Hepatomegaly, Abnormality of the menstrual cycle ORPHA:90308
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Hereditary Xanthinuria