Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nitric oxide synthase 1, neuronal
Synonyms:
nNOS,  bNOS,  Nos-1,  NO,  2310005C01Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nos1 mutations

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

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

The table below shows human diseases associated to Nos1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Idiopathic Achalasia
Dysphagia, Gastroesophageal reflux, Weight loss ORPHA:930

The table below shows human diseases predicted to be associated to Nos1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
46,Xy Sex Reversal 1
Abnormality of the menstrual cycle, Ambiguous genitalia, Elevated circulating luteinizing hormone... OMIM:400044
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Ele... OMIM:618187
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Megacystis, Dysphagia, Gastroesophageal reflux, Intesti... OMIM:619350
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Blind vagina, Labial hypoplasia, Primary amenorrh... OMIM:300068
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Coproporphyria, Hereditary
Abdominal pain, Depression, Constipation, Hypertension, Hepatomegaly, Tachycardia, Anxiety, Diarr... OMIM:121300
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Positive Romberg sign, Depression, Progressive gait ataxia, Mildly elevated creatine kinase, Incr... OMIM:607459
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Increased mus... OMIM:123320
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Positive Romberg sign, Memory impairment, Gait ataxia, Impaired vibratory sensation, Depression, ... ORPHA:70595
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Impaired social interactions, Male hypogonadism, Increased circulating gonadotrop... ORPHA:163976
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Fructose Intolerance, Hereditary
Hypophosphatemia, Malnutrition, Hyperphosphaturia, Gastrointestinal hemorrhage, Abdominal pain, T... OMIM:229600
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Feeding difficulties, Dysphagia, Supraventricular tachycardia, Elevated circulating creatine kina... OMIM:255100
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Premature Ovarian Failure 8
Increased circulating gonadotropin level, Ovarian neoplasm, Premature ovarian insufficiency, Prim... OMIM:615723
Systemic Sclerosis
Acute kidney injury, Joint swelling, Pericarditis, Abnormality of the small intestine, Abnormal e... ORPHA:90291
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Xerostomia, Increased circulating NT-proBNP c... ORPHA:85443
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Nocturia, Shoulder girdle m... ORPHA:254892
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Malnutrition, Abdominal pain, Lactic acidosis, Constipation, Distal amyot... OMIM:603041
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Overfriendliness, Hypertriglyceridemia, Aggressive behavior OMIM:618010
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Shyness, Hypergonado... ORPHA:163971
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Hereditary Coproporphyria
Porphyrinuria, Small intestinal dysmotility, Abdominal pain, Hepatocellular carcinoma, Dark urine... ORPHA:79273
Porphyria, Acute Intermittent
Dysuria, Paralytic ileus, Paresthesia, Abdominal pain, Depression, Hepatocellular carcinoma, Cons... OMIM:176000
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Acute Intermittent Porphyria
Pseudobulbar paralysis, Diarrhea, Ileus, Renal insufficiency, Memory impairment, Constipation, Ur... ORPHA:79276
Hydroxykynureninuria
Hypotension, Aminoaciduria, Tachycardia, Metabolic acidosis, Renal tubular dysfunction OMIM:236800
Visceral Myopathy 1
Polyhydramnios, Megaduodenum, Megacystis, Malnutrition, Abdominal pain, Dysphagia, Constipation, ... OMIM:155310
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Variegate Porphyria
Abdominal pain, Constipation, Tachycardia, Vomiting, Porphyrinuria OMIM:176200
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Depression, Dysphagia, Increased serum lactate, Rhabdo... OMIM:157640
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Trimethylaminuria
Depression, Hypertension, Tachycardia, Splenomegaly, Trimethylaminuria OMIM:602079
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Young-Onset Parkinson Disease
Impaired social interactions, Dementia, Depression, Apathy, Constipation, Nausea, Panic attack, I... ORPHA:2828
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Xerostomia, Type... ORPHA:398079
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Truncal obesity, Small for gestational age,... ORPHA:96184
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Proximal Spinal Muscular Atrophy
Poor suck, Facial diplegia, Dysphagia, Constipation, Gastroesophageal reflux, Flexion contracture... ORPHA:70
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Ethylene Glycol Poisoning
Elevated serum anion gap, Hypocalcemia, Hematuria, Lactic acidosis, Pulmonary edema, Shock, Vomit... ORPHA:31826
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Myocardial infarction, Hypertriglycerid... OMIM:610947
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:289548
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Constipation, Gastroesophageal reflux, Increased serum lactate, Facial palsy, Elevate... OMIM:610131
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive OMIM:179010
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Oligohydramnios, Lactic acidosis, Increased serum lactate, Hypertension, Ataxia, Hype... OMIM:614052
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Obesity, Neoplasm of the posterior pituitary,... ORPHA:2495
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Elevated circulating aspartate aminotransferase concentration, Ventricular hypertrophy, He... OMIM:619048
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased serum pyruvate, Flexion contracture, Increased serum lactate, Irritability, Increased u... OMIM:619224
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Macroglossia, Decreased circulating ACTH level, Decreased circulating follicl... ORPHA:226307
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Snakebite Envenomation
Cardiogenic shock, Pseudobulbar paralysis, Acute kidney injury, Intracranial hemorrhage, Hypotens... ORPHA:449285
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Anal atresia, Small for gestational age, Elevated... OMIM:618419
Dysplastic Cortical Hyperostosis
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Acute kidney injury, Dysphagia, Dark urine, Rhabdomyolysis, El... ORPHA:368
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia... ORPHA:79085
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:314575
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Lactase Deficiency, Congenital
Dehydration, Lactose intolerance, Diarrhea, Metabolic acidosis, Decreased small intestinal mucosa... OMIM:223000
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Myopathy, Centronuclear, X-Linked
Flexion contracture, Diaphragmatic eventration, Respiratory failure requiring assisted ventilatio... OMIM:310400
49,Xxxyy Syndrome
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Eunuchoid habit... ORPHA:261534
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Porphyria Variegata
Neurogenic bladder, Porphyrinuria, Abdominal pain, Hepatocellular carcinoma, Constipation, Hypona... ORPHA:79473
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... ORPHA:3044
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of... ORPHA:243
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Spontaneous esophageal perforation, Abdominal pain, Gastroparesis, Abdominal disten... OMIM:277320
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, Aganglionic megacolon, External genital hypoplasia, F... OMIM:601095
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Acidosis, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuri... OMIM:137950
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Achlorhydria, Hypotension, Lac... ORPHA:173
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Isosexual precocious puberty, I... ORPHA:759
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Myopathy OMIM:613077
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertension, Myocardial infarction, Hypertriglyceridemia, Congestive heart... OMIM:615703
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypoplasia of the corpus callosum, Hypospadias, Pyloric stenosis, Agenesis of cor... OMIM:218350
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Exercise-induced mus... ORPHA:681
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia... ORPHA:435651
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Xerostomia, Type... ORPHA:398069
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Hypergonadotropic hypogonadi... ORPHA:347
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Depression, Dysphagia, Emotional lability, Motor deterioration, Tachycardia, Anxiety, P... ORPHA:79264
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Exercise-induced muscle fatigue ORPHA:2364
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis, Failure to thrive OMIM:226700
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Perrault Syndrome 1
High palate, Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Neuroleptic Malignant Syndrome
Hypocalcemia, Nasogastric tube feeding, Acute kidney injury, Hypernatremia, Hyperuricemia, Pulmon... ORPHA:94093
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... OMIM:231095
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Elevated circu... ORPHA:435660
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Gitelman Syndrome
Nocturia, Vomiting, Hypomagnesemia, Paresthesia, Hypocalciuria, Renal potassium wasting, Constipa... OMIM:263800
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Acute Peripheral Arterial Occlusion
Paresthesia, Acidosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tac... ORPHA:90064
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Serotonin Syndrome
Acute kidney injury, Hypotension, Lactic acidosis, Nausea, Rhabdomyolysis, Hypertension, Irritabi... ORPHA:43116
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Aggress... OMIM:309000
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... ORPHA:169189
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Glucose/Galactose Malabsorption
Chronic diarrhea, Glycosuria, Hypertonic dehydration, Hyperactive bowel sounds, Metabolic acidosi... OMIM:606824
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... ORPHA:432
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Frequent Giardia lambl... OMIM:615577
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Increased serum lactate, Stage 5 chronic kidney disease, Hypertrophic cardiomyop... OMIM:618250
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Breast aplasia, Hypoplastic nipples, Ectopic anus, Del... ORPHA:3138
Hsd10 Disease, Neonatal Type
Lactic acidosis, Abnormal concentration of acylcarnitine in the urine, Metabolic acidosis, Hypert... ORPHA:391457
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux, Small for gestational age, Hypothyroidism OMIM:256300
Beta-Ketothiolase Deficiency
Hyperammonemia, Oral aversion, Hypotension, Apathy, Ketoacidosis, Increased serum lactate, Hyperu... ORPHA:134
46,Xx Testicular Disorder Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Trisomy 18P
Microcephaly, High, narrow palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:1715
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Feeding difficulties, Lactic acidosis, Increased serum lactate, Hyperalaninemia, Meta... OMIM:614702
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Poor suck, Metabolic acidosis, Dicarboxylic aci... OMIM:615026
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
Pure Mitochondrial Myopathy
Scapular winging, Proximal amyotrophy, Quadriceps muscle weakness, Exercise-induced muscle fatigu... ORPHA:254854
Zellweger Syndrome
Ventricular septal defect, Pyloric stenosis, Respiratory insufficiency, Multicystic kidney dyspla... ORPHA:912
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Feeding difficulties, Metabolic acidosis, Elevat... ORPHA:26792
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Arthrogryposis multiplex congenita, Feeding difficulties, Lactic acidosis, Irrita... OMIM:615330
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Kleefstra Syndrome
Self-mutilation, Macroglossia, Arrhythmia, Dyspnea, Aggressive behavior, Ventricular septal defec... ORPHA:261494
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Tetanus
Abdominal pain, Elevated urinary norepinephrine, Dysphagia, Hypertension, Elevated urinary epinep... ORPHA:3299
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Ectopic anus, Secondary amenorrhea, Hypogonadotropic hypogonadism, Decreased ... ORPHA:1643
47,Xyy Syndrome
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... ORPHA:8
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue ORPHA:369847
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Galactosemia I
Increased level of galactitol in red blood cells, Albuminuria, Hyperchloremic metabolic acidosis,... OMIM:230400
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Respiratory insuffici... OMIM:611890
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hyperammonemia, Gait ataxia, Lactic acidosis, Increased serum lactate, Rhabdo... OMIM:616878
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Fg Syndrome Type 1
Slender build, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavio... ORPHA:93932
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Pyloric stenosis, Gastroesophageal reflux, Aortic regurgitation ORPHA:98892
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Gait ataxia, Feeding difficulties, Lactic acidosis, Proxima... OMIM:612075
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus ORPHA:71529
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hyperamylasemia, Increased serum lactate, Aminoaciduria, Anorexi... OMIM:619386
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Dysphagia, Percussion myotonia, Handgrip myotonia, Myotonia of the upper li... ORPHA:684
Hsd10 Disease, Infantile Type
Dysphagia, Lactic acidosis, Increased serum lactate, Paroxysmal bursts of laughter, Abnormal conc... ORPHA:391428
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circu... OMIM:223900
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Lactic acidosis, Hyperalaninemia, Nonimmu... OMIM:619003
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
Coenzyme Q10 Deficiency, Primary, 3
Feeding difficulties, Increased serum lactate, Edema, Nephrotic syndrome, Proteinuria OMIM:614652
Fructose-1,6-Bisphosphatase Deficiency
Lactic acidosis, Intermittent lactic acidemia, Hyperuricemia, Reye syndrome-like episodes, Hepato... ORPHA:348
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Gastr... OMIM:201475
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Abnormality of the ovary ORPHA:1875
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Lactic acidosis, Aminoaciduria, Generalized amyotrophy, Irritabilit... OMIM:609560
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Tachycardia, Fat malabsorption OMIM:221400
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Truncal ataxia, Urinary incontinence, Bowel incontinence, Gastroparesis, Choreoathet... OMIM:618877
Lipodystrophy, Congenital Generalized, Type 4
Muscle mounding, Elevated hepatic transaminase, Dysphagia, Muscular dystrophy, Flexion contractur... OMIM:613327
Aa Amyloidosis
Malnutrition, Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Abdominal pai... ORPHA:85445
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Microvillus Inclusion Disease
Abnormal renal physiology, Hypovolemia, Abnormality of small intestinal villus morphology, Villou... ORPHA:2290
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Anemia, Splenomegaly, Arthritis ORPHA:37748
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Urinary bladder sphincter dysfunction, Hepatic steatosis, Weakness ... ORPHA:52430
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Abnormal renal corticomedullary differen... OMIM:616733
Xp21 Deletion Syndrome
Decreased muscle mass, Recurrent otitis media, Increased muscle fatiguability, Calf muscle hypert... ORPHA:261476
Hsd10 Disease
Dysphagia, Abnormal social behavior, Nasogastric tube feeding in infancy, Ataxia, Chronic lactic ... ORPHA:391417
Malignant Hyperthermia, Susceptibility To, 1
Mixed respiratory and metabolic acidosis, Hypotension, Rhabdomyolysis, Tachycardia, Myoglobinuria... OMIM:145600
Central Diabetes Insipidus
Depression, Nocturia, Hyponatremia, Anorexia, Dehydration, Diarrhea, Anxiety, Nausea and vomiting... ORPHA:178029
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Intestinal malrot... ORPHA:1199
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy, Respiratory insufficiency OMIM:614654
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Feeding difficulties, Elevated plasma branched chain amino acids, Abn... ORPHA:2394
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Increased serum lactate, Hepatomegaly, Congestive heart failure, Metabolic acidosis, Myopathy, Hy... OMIM:618234
Chronic Granulomatous Disease
Chronic pulmonary obstruction, Liver abscess, Hepatomegaly, Sinusitis, Splenomegaly, Tracheoesoph... ORPHA:379
Marden-Walker Syndrome
Cryptorchidism, Zollinger-Ellison syndrome, Micropenis, Hypospadias, Cleft palate, High palate, H... OMIM:248700
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... ORPHA:280356
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Hepatocellular carcinoma, Intermittent lactic acidemia, Postprandial hyperlactemia, ... ORPHA:369
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Atrial septal defect, Abnormal heart morphology, Gastroesophageal r... ORPHA:261197
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Decreased muscle mass, Paresthesia, Small intestinal dysm... ORPHA:298
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lactic acidosis, Decreased liver function, Skeletal muscle atrophy, Vomiting, ... ORPHA:26791
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Abdominal pain, Acidosis, Tachycardia, Anxiety, Vomiting, Syncope ORPHA:464453
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Metabolic ketoacidosis, Hypophosphatemic rickets, Glycosuri... ORPHA:263455
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
3-Methylglutaconic Aciduria, Type I
Self-mutilation, Dementia, Ataxia, Urinary incontinence, Metabolic acidosis, Cognitive impairment... OMIM:250950
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Polyphagia, Feeding difficulties, Syncope, Hepatomegaly, Increased C-peptide level,... ORPHA:276556
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Decreased serum leptin, Supraventricular arrhythmia, Hypertriglyceridemia... ORPHA:280365
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, Pyloric stenosis, Penoscrotal transposition, Anencephaly, Anal atr... OMIM:619148
Pyruvate Dehydrogenase Phosphatase Deficiency
Dysphagia, Gait ataxia, Lactic acidosis OMIM:608782
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Avian Influenza
Dyspnea, Respiratory distress, Myelitis, Acute kidney injury, Elevated hepatic transaminase, Pleu... ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Lactic acidosis, Ataxia, Irritability, Vomiting OMIM:618226
Combined Oxidative Phosphorylation Deficiency 33
Oligohydramnios, Increased serum lactate, Hepatomegaly, Left ventricular hypertrophy, Metabolic a... OMIM:617713
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Arrhythmia, Increased L... OMIM:616516
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Hsd10 Mitochondrial Disease
Progressive neurologic deterioration, Aggressive behavior, Lactic acidosis, Metabolic acidosis, C... OMIM:300438
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Dementia, Wolff-Parkinson-White syndrome, Lactic acidosis, Abnormal left ventricular ... OMIM:540000
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Pyloric stenosis, Small for gestational age, Obesity ORPHA:777
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Feeding difficulties in infancy, Flexion contracture, Episodic metabolic acidosis, Facial palsy, ... OMIM:201470
Koolen-De Vries Syndrome
Cryptorchidism, Overfriendliness, Narrow palate, Aplasia/Hypoplasia of the corpus callosum, Hypot... ORPHA:96169
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respiratory insufficienc... ORPHA:60032
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes mellitus, Card... OMIM:610717
Stormorken Syndrome
Increased muscle fatiguability, Myopathy OMIM:185070
Cystinosis
Hypophosphatemia, Polydipsia, Aminoaciduria, Nephropathy, Vomiting, Dehydration, Hypokalemia, Por... ORPHA:213
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hypertension OMIM:613877
Combined Oxidative Phosphorylation Deficiency 30
Elevated hepatic transaminase, Gastroesophageal reflux, Decreased liver function, Left ventricula... OMIM:616974
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Reynolds Syndrome
Cirrhosis, Dysphagia, Gastroesophageal reflux, Respiratory insufficiency, Telangiectasia of the s... ORPHA:779
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Testicular seminoma, Hypogonadism, Lis... ORPHA:281090
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Cerebral hemorrhage, Pulmonary edema, Ele... ORPHA:90068
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Midgut malrotation, Bilateral cryptorchidism, Hypospad... ORPHA:2409
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Polyphagia, Feeding difficulties, Syncope, Hepatomegaly, Increased C-peptide level,... ORPHA:276575
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Nephrolithiasis, Hydroureter OMIM:617219
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Feeding difficulties, Pericardial effusion, Exercise-i... ORPHA:26793
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Exercise-induced muscle fatigue ORPHA:713
Spinocerebellar Ataxia 48
Gait ataxia, Depression, Dysphagia, Chorea, Ataxia, Urinary incontinence, Irritability, Anxiety, ... OMIM:618093
Myotonic Dystrophy 2
Palpitations, Myotonia, Tachycardia, Insulin insensitivity, Decreased circulating total IgM, Decr... OMIM:602668
Car T Cell Therapy-Associated Cytokine Release Syndrome
Poor appetite, Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Pleural e... ORPHA:542323
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tachycardia, Hepatomegaly, At... OMIM:212138
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tubulointerstitial fibrosis, Cor pulmonale, Cough, Respiratory failure, Tac... OMIM:263000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Skin-picking, Polyphagia, Self-injurious behavior, Pedal edema, Impaired temperature sensation, B... ORPHA:98754
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Hypertriglyceridemia, Myoclonus OMIM:615924
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Prader-Willi Syndrome
Polyphagia, Impaired temperature sensation, Nasogastric tube feeding in infancy, Hypertension, Xe... ORPHA:739
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Skin-picking, Polyphagia, Self-injurious behavior, Pedal edema, Impaired temperature sensation, B... ORPHA:98793
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Combined Malonic And Methylmalonic Acidemia
Nasogastric tube feeding, Dicarboxylic acidemia, Ketoacidosis, Dehydration, Methylmalonic aciduri... ORPHA:289504
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Skin-picking, Polyphagia, Self-injurious behavior, Pedal edema, Impaired temperature sensation, B... ORPHA:177904
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Dehydration, Methylmalonic aciduria, Methylmalonic acidemia, Metabolic a... OMIM:251120
Arterial Tortuosity Syndrome
Hiatus hernia, Median cleft lip and palate, Esophagitis, Dyspnea, Respiratory distress, Cardiores... ORPHA:3342
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Sepsis In Premature Infants
Splenomegaly, Hypotension, Reversible renal failure, Hepatomegaly, Oliguria, Functional abnormali... ORPHA:90051
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Skin-picking, Polyphagia, Self-injurious behavior, Pedal edema, Impaired temperature sensation, B... ORPHA:177901
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Exertional dyspnea, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac de... OMIM:608751
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Wild Type Attr Amyloidosis
Gastrointestinal dysmotility, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, I... ORPHA:330001
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ... ORPHA:99106
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Cryptorchidism, Increased circulating gonadotropin level, Agonadism, Aplasia of the ... ORPHA:2232
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cirrhosis, Familial
Esophageal varix, Hypertension, Abdominal distention, Increased level of propylene glycol in bloo... OMIM:215600
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys... ORPHA:478
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Type 1 muscle fiber atrophy, Macroglossia, Impaired pain sensation, Feeding difficulties in infan... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Type 1 muscle fiber atrophy, Macroglossia, Impaired pain sensation, Feeding difficulties in infan... ORPHA:352665
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Polyphagia, Feeding difficulties, Syncope, Hepatomegaly, Increased C-peptide level,... ORPHA:276580
Mental Retardation, Autosomal Dominant 35
Congenital muscular torticollis, Pyloric stenosis, Facial hypotonia OMIM:616355
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Lactic acidosis, Constipation, Elevated urine suberic acid level, Vomiting, Chron... OMIM:248360
Combined Oxidative Phosphorylation Deficiency 1
Feeding difficulties, Poor eye contact, Increased serum lactate, Hepatomegaly, Elevated lactate:p... OMIM:609060
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Diabetes mellitus, Granuloma, Telangiectasia of the skin ORPHA:542592
Griscelli Syndrome
Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Pyloric stenosis ORPHA:381
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism, Hyperhidrosis, Microcephaly ORPHA:2617
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Dyspnea, Ventricular tachycardia, Left ventricular hypertrophy... OMIM:613873
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Feeding difficulties... OMIM:500009
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Polyphagia, Feeding difficulties, Hepatomegaly, Increased C-peptide level, Tachycar... ORPHA:324575
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia, Skeletal muscle atrophy ORPHA:247604
Cholesterol Pneumonia
Tachypnea, Cyanosis, Pneumonia, Cough OMIM:215030
Colchicine Poisoning
Hypocalcemia, Lactic acidosis, Abnormal blood ion concentration, Dehydration, Diarrhea, Myocardit... ORPHA:31824
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Colorectal polyp... ORPHA:157798
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyponatremia, Renal salt wasting, Dehydration, Diarrhea, Metabolic acidosis, Vomitin... OMIM:264350
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Ambi... ORPHA:754
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Respiratory distress, Paroxysmal supraventricular tachycar... ORPHA:45452
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Irritability, Tachycardia, Metabolic acidosis, Increased urinary glycerol OMIM:229700
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea, ... OMIM:616414
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... ORPHA:308552
Prader-Willi-Like Syndrome
Skin-picking, Polyphagia, Self-injurious behavior, Pedal edema, Impaired temperature sensation, B... ORPHA:398073
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, Dyspnea, T-wave inversion, Ventricular tachycardia, ... OMIM:608758
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Glycerol Kinase Deficiency
Ketoacidosis, Muscular dystrophy, Hypertriglyceridemia, Episodic vomiting, Metabolic acidosis, My... OMIM:307030
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Hyperalaninemia, Metabolic acidosis, Skeletal muscle atrophy ORPHA:2597
Scorpion Envenomation
Mixed respiratory and metabolic acidosis, Acute kidney injury, Cardiac conduction abnormality, Re... ORPHA:466677
Dihydrolipoamide Dehydrogenase Deficiency
Feeding difficulties, Lactic acidosis, Ataxia, Hepatomegaly, Decreased liver function, Metabolic ... OMIM:246900
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Ele... ORPHA:159
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Respiratory insufficiency due to... OMIM:611067
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Amish Lethal Microcephaly
Feeding difficulties, Hepatomegaly, Limb hypertonia, Irritability, Metabolic acidosis, Organic ac... ORPHA:99742
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Increased serum lactate, Metabolic acidosis OMIM:615158
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Lactic acidosis, Hypertrophic cardiomyopathy OMIM:617184
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Poor eye contact, Lactic acidosis, Increased serum pyruvate, Increased serum lactate, Ataxia, Hyp... OMIM:619046
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Percussion myotonia, Ankle flexion c... OMIM:619040
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Atrial septal defect, Aggressiv... ORPHA:457279
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type II diabetes mellitus, ... ORPHA:181393
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Myopathy, Low-output congestive hea... ORPHA:91130
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Increased serum lactate, Hepatomegaly, Dehydration, Metabolic acidosis OMIM:618958
Hydroxykynureninuria
Hypotension, Stomatitis, Renal tubular acidosis, Tachycardia, Metabolic acidosis, Abnormal circul... ORPHA:79155
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Severe lactic acidosis, Abdominal pain, Increased serum pyruvate, Increased serum... OMIM:616794
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Increased serum lactate, Skeletal muscle atrophy, Elevated circulating creatine kinase... OMIM:617070
Atypical Rett Syndrome
Impaired social interactions, Sudden episodic apnea, Poor eye contact, Episodic tachypnea, Panic ... ORPHA:3095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Skeletal muscle atrophy, Clef... ORPHA:435638
Multiple Symmetric Lipomatosis
Paresthesia, Insulin resistance ORPHA:2398
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Lactic acidosis, Increased serum lactate, Hyperalaninemia, Hyperprolinemia ORPHA:79246
Pandas
Claustrophobia, Encopresis, Depression, Chorea, Agoraphobia, Enuresis, Emotional lability, Anorex... ORPHA:66624
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Truncal ataxia, Feeding difficulties, Lactic acidosis, Limb ataxia, Increased serum lactate, Tric... OMIM:619051
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
3-Hydroxyisobutyric Aciduria
Lactic acidosis, Ketoacidosis, Episodic ketoacidosis, Aminoaciduria OMIM:236795
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Hyperammonemia, Progressive neurologic deterioration, Metabolic acidosis OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dysphagia, Increased serum lactate, Limb hypertonia, Distal amyotrophy, Metabolic acidosis, Chore... OMIM:618247
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Feeding d... ORPHA:411696
Combined Oxidative Phosphorylation Deficiency 45
High palate, Increased serum lactate, Cardiac arrest, Ataxia OMIM:618951
Apert Syndrome
Cryptorchidism, Narrow palate, Absent septum pellucidum, Megalencephaly, Esophageal atresia, Ecto... OMIM:101200
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis, 3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy OMIM:614053
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Increased serum lactate, Hyperglycinemia, Protein-losing enteropathy OMIM:619063
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, Respiratory insu... ORPHA:746
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Abdominal pain, Hypotension, Elevated ... ORPHA:91547
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505