Gene Summary

Name:
granulin
Synonyms:
PC cell-derived growth factor,  progranulin,  Pgrn,  acrogranulin,  epithelin

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
increased mean platelet volume Grnem1(IMPC)H HOM   Early adult 5.61×10-05

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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 Grn 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 Grn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Depression, Anxiety, Astrocytosis ORPHA:100070
Behavioral Variant Of Frontotemporal Dementia
Apathy, Inappropriate behavior, Astrocytosis, Emotional blunting, Disinhibition, Aggressive behav... ORPHA:275864
Semantic Dementia
Abulia ORPHA:100069
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Progressive language deterioration, Memory impairment, Neurofibrillary tangles, Hypersexu... OMIM:607485
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Ataxia OMIM:614706

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Polyphagia, Diabetes mellitus OMIM:222100
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... OMIM:619468
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hypokalemia, Polyuria, Hydronephrosis, Central diabetes insipidus OMIM:304900
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... OMIM:614963
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Eleva... OMIM:239200
Cystinosis
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... ORPHA:213
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Polydipsia, Left ventric... ORPHA:320
East Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Abnormal urinary electrolyte concentration, Salt craving... ORPHA:199343
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Small for gestational age, Unilateral renal agenesis, Abnorma... ORPHA:93101
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Weight loss, Diabetes insipidus ORPHA:178029
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... ORPHA:405
Panhypophysitis
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased serum testosterone concentration, R... ORPHA:95513
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Depression, Anxiety, Astrocytosis ORPHA:100070
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circula... OMIM:612780
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia, Polyuria, Hypernatremia, Megacystis, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Polyuria, Hypernatremia, Megacystis OMIM:125800
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... ORPHA:85445
Nephrogenic Diabetes Insipidus
Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Hyposthenuria, Hydroureter, Hypern... ORPHA:223
Behavioral Variant Of Frontotemporal Dementia
Apathy, Inappropriate behavior, Astrocytosis, Emotional blunting, Disinhibition, Aggressive behav... ORPHA:275864
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating ren... OMIM:613677
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Senior-Boichis Syndrome
Polydipsia, Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, ... ORPHA:84081
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Leptin Deficiency Or Dysfunction
Micropenis, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Recurrent pneumonia, Hy... OMIM:614962
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Sa... OMIM:263800
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Distal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Polydipsia, Hypokalemia, Aminoaciduria, Decreased glomerular ... ORPHA:18
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepat... OMIM:604387
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Nephropathy, Diabetes mellitus, Astrocytosis OMIM:172500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... OMIM:613845
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... ORPHA:411634
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Renal insufficiency, Obesity OMIM:615986
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Duplicated colle... ORPHA:541423
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... OMIM:143880
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Renal cyst, Hypogonadism, Obesity, Stage 5 chronic kidney disease OMIM:615994
Oligomeganephronia
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational ag... ORPHA:2260
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Polyphagia, Cystinuria ORPHA:163690
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
Geniospasm 1
Anxiety OMIM:190100
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Adrenal hyperplasia, Abnor... ORPHA:251274
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia, Pollakisuria, Diabetes insipidus ORPHA:95626
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Apathy, Inappropriate behavior, Astrocytosis, Disinhibition, Aggressive behavior OMIM:600795
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... OMIM:613550
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Teratoma, Pineal
Abnormal abdomen morphology, Polyuria, Polydipsia OMIM:273120
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... OMIM:606407
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Polydipsia, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, ... OMIM:219800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... OMIM:602522
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... OMIM:613090
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... OMIM:266900
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Parathyroid Carcinoma
Nephrolithiasis, Abnormality of the parathyroid morphology, Polydipsia, Hypophosphatemia, Thyroid... ORPHA:143
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Helix Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagn... OMIM:617671
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... OMIM:616022
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Hypospadias, Abnormality of endoc... ORPHA:93111
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis OMIM:607341
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaci... ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Abnormality of the parathyroid morphology, Polydipsia, Hypophosphatemia, Thyroid... ORPHA:99880
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hepatic ... ORPHA:73224
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Hypera... ORPHA:369929
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Diabetes insipidus, Nephrocalcinosis, Astrocytosis OMIM:611087
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Polydi... OMIM:241200
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Hepatomegaly, Polyuria, Type I diabetes mellitus, Proximal tubulopathy OMIM:560000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ... ORPHA:231580
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Perineural Cyst
Infertility, Impotence, Female sexual dysfunction, Dyspareunia, Depression, Retrograde ejaculatio... ORPHA:65250
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... OMIM:607364
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... OMIM:613953
Inherited Creutzfeldt-Jakob Disease
Apathy, Progressive cerebellar ataxia, Depression, Anxiety, Akinetic mutism, Chorea, Astrocytosis... ORPHA:282166
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology OMIM:613724
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Akinetic mutism, Astrocytosis ORPHA:204
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Optic atrophy, Cerebell... OMIM:610951
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Euthyroid goiter ORPHA:3327
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Polydipsia, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glyc... ORPHA:47159
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss, Diabetes insipidus ORPHA:30925
Gracile Syndrome
Increased circulating ferritin concentration, Aminoaciduria, Increased serum pyruvate, Cholestasi... OMIM:603358
Pediatric-Onset Graves Disease
Keratitis, Failure to thrive, Polydipsia, Graves disease, Hepatomegaly, Splenomegaly, Increased c... ORPHA:525731
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Hepatomegaly, Splenomegaly, Decrea... OMIM:201100
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Maternal diabete... ORPHA:3157
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... OMIM:601678
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Failure to thrive OMIM:606528
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure,... OMIM:203700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Recurrent bacterial skin ... ORPHA:276
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Polydipsia, Hyp... ORPHA:769
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Excessi... ORPHA:324575
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Polydipsia, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreati... ORPHA:731
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Cach Syndrome
Apathy, Abnormal pons morphology, Limb ataxia, Cognitive impairment, Dysmetria, Progressive neuro... ORPHA:135
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... ORPHA:572
Gitelman Syndrome
Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteroni... ORPHA:358
Galactosemia Iii
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... OMIM:230350
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, Disinhibition, T2 hypointense thalamus, Dementia OMIM:618193
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Abnormal hypothalamus morphology, Central ad... ORPHA:54595
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Thalamic calcification, Limb ataxia OMIM:618824
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilia, Decreased circulating total IgM, Disseminated molluscu... OMIM:243700
Meningioma
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... ORPHA:2495
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Nephritis, Decreased response to growth hormone stimulation test,... OMIM:203800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Chorea, Benign Hereditary
Anxiety OMIM:118700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... ORPHA:71529
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... OMIM:603471
Wolfram Syndrome
Dysuria, Polydipsia, Abnormality of the urinary system, Recurrent urinary tract infections, Nephr... ORPHA:3463
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Hepatic failure, Elevated alpha-fetopr... OMIM:276700
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Increas... ORPHA:276556
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Cognitive impairment ORPHA:397725
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Eczema, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephro... ORPHA:428
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Chronic kidney disease, Recurrent skin infections, Abnorma... ORPHA:79408
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398069
Early-Onset Schizophrenia
Decreased male libido, Impairment in personality functioning, Abnormal emotion/affect behavior, D... ORPHA:96369
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Decreased glomerular filtration rate, Renal tubular atrophy, Nephropathy, Gout, Renal ... OMIM:162000
Saccharopinuria
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Hyperlysinuria, Sac... OMIM:268700
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Skin rash OMIM:601979
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Abnormal abdomen morphology, Graves disease, Increas... OMIM:275000
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortica... ORPHA:403
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Whipple Disease
Polydipsia, Hepatomegaly, Splenomegaly, Cachexia, Myositis, Myocarditis, Arthritis, Hypothyroidis... ORPHA:3452
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Uni... OMIM:308750
Erdheim-Chester Disease
Dysuria, Polydipsia, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Retroperitoneal fib... ORPHA:35687
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... ORPHA:446
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macrovesicular ... OMIM:617303
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Lacticaciduria, Aminoaciduria, Pancreatitis, Elevated circulating creatine... OMIM:619386
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Recurrent upper and lower respiratory tra... ORPHA:331206
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis o... OMIM:617542
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia OMIM:615415
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Recurrent skin infections, Abnormal circulating seleniu... ORPHA:89842
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... OMIM:610600
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections... OMIM:608957
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Primary hy... ORPHA:99879
Galactosemia I
Increased level of galactitol in urine, Decreased liver function, Failure to thrive, Increased le... OMIM:230400
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Basal ganglia gliosis, Astrocytosis, Choreoathetosis, Gait ataxia ORPHA:225154
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Cognitive impairment, T2 hypointense thalamus, Motor deterioration, Gait ataxia, Dementia ORPHA:1947
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice ORPHA:79238
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, ... OMIM:613404
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Polydipsia, Decreased response to growth ... ORPHA:293987
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Progressive language deterioration, Cognitive impairment, ... ORPHA:79264
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239510
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Renal tubular acidosis, Hepatomegaly, Hepatic failure, Incre... ORPHA:2088
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... OMIM:601495
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuric... ORPHA:79259
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom... ORPHA:85450
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion, Micropenis OMIM:618929
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Panhypopituitarism, Anterior hypopituitarism, Increased cir... ORPHA:91351
Thyrocerebroretinal Syndrome
Goiter, Nephritis OMIM:274240
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Neuroferritinopathy
Iron accumulation in substantia nigra, Cognitive impairment, T2 hypointense thalamus, Subcortical... ORPHA:157846
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Semantic Dementia
Abulia ORPHA:100069
Pick Disease Of Brain
Apathy, Gliosis, Emotional blunting, Disinhibition, Inappropriate laughter, Diminished motivation... OMIM:172700
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Ataxia, Abnormal brainstem MRI signal intensity, Cognitive impairment, Distal ... ORPHA:254930
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hyponatremia, Hyperkalemia, Ren... OMIM:614736
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting OMIM:613743
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypothyroidism, Hypertriglyceridemia, Hy... OMIM:618183
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Abnormal social behavior ORPHA:436151
Pallister-Hall-Like Syndrome
Glioma, Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism, Renal dysplasia OMIM:241800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cognitive impairment, Depression, Impaired vibratory sensation, Positive Romberg sign, Memory imp... ORPHA:70595
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Stimmler Syndrome
Type II diabetes mellitus, Aminoaciduria ORPHA:3199
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudo... OMIM:264350
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensit... ORPHA:444013
Toxic Epidermal Necrolysis
Dysuria, Polydipsia, Pancreatitis, Acute hepatic failure, Abnormality of the urethra, Elevated he... ORPHA:537
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe... ORPHA:209919
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Orthostatic Hypotension 1
Retrograde ejaculation OMIM:223360
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Hypothalamic gon... OMIM:618841
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79444
Familial Cold Urticaria
Polydipsia, Conjunctivitis, Arthritis ORPHA:47045
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:203780
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia OMIM:619693
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Beta-Thalassemia Intermedia
Hypoparathyroidism, Adrenal insufficiency, Cholelithiasis, Decreased liver function, Hepatomegaly... ORPHA:231222
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Large for gestational age, Elevated he... OMIM:616026
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, Hy... OMIM:203400
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Recurrent viral infections, Recu... OMIM:618048
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Obesity OMIM:617885
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum ORPHA:557003
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria ORPHA:2278
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypop... ORPHA:157215
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Small for gestational age OMIM:619057
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne... OMIM:239199
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Hypercalciuria, A... OMIM:614732
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneumonia... OMIM:147060
Leigh Syndrome With Cardiomyopathy
Failure to thrive, Ataxia, Mental deterioration, Abnormal brainstem morphology, Chorea, Abnormali... ORPHA:70474
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Wilson Disease
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... OMIM:277900
Zinc Deficiency, Transient Neonatal
Eczema, Decreased serum zinc OMIM:608118
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Hypoplasia of the brainstem OMIM:619072
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, A... ORPHA:99852
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Enterocolitis, Increased level of L-pyroglutamic aci... OMIM:260005
Obesity Due To Sim1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:369873
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy OMIM:615889
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormality of thalamus mo... ORPHA:300570
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Lymphoid Interstitial Pneumonia
Failure to thrive, Hepatomegaly, Skin rash, Rheumatoid arthritis, Eczema, Enlarged kidney, Weight... ORPHA:79128
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Intrarenal abscess, Pustule, Abnormal hypothalamus morphology, Abnormality of the adre... ORPHA:68
H Syndrome
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Chronic rhinitis, Hyp... ORPHA:168569
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Hypogonadism, Obes... OMIM:616629
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556037
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Leprechaunism
Failure to thrive, Hypokalemia, Hyperinsulinemia, Hepatomegaly, Decreased body weight, Hypercalci... ORPHA:508
Cranioectodermal Dysplasia 1
Chronic kidney disease, Hypocalcemia, Hepatomegaly, Hepatic failure, Stage 1 chronic kidney disea... OMIM:218330
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Slc39A8-Cdg
Abnormal blood zinc concentration, Hypomanganesemia, Failure to thrive in infancy, Abnormality of... ORPHA:468699
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Myositis, Oliguria, Elevated hepatic transamin... ORPHA:99845
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Polycythemia, Astrocytosis, Elevated hepatic ... ORPHA:309854
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Dicarboxylic Aminoaciduria
Nephrolithiasis, Aminoaciduria, Aspartic aciduria OMIM:222730
Thymic Aplasia
Recurrent candida infections, Decreased proportion of naive T cells, Recurrent streptococcus pneu... ORPHA:83471
Gerstmann-Straussler Disease
Limb ataxia, Depression, Truncal ataxia, Memory impairment, Neurofibrillary tangles, Gait ataxia,... OMIM:137440
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... OMIM:105200
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556030
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Acne, Increased body w... ORPHA:759
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... OMIM:608022
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Protei... OMIM:301050
Schaaf-Yang Syndrome
Micropenis, Polyphagia, Hypogonadism, Obesity, Failure to thrive in infancy OMIM:615547
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia, Cognitive impairment OMIM:617761
Tiglic Acidemia
Aminoaciduria OMIM:275190
Adult Krabbe Disease
Abnormal pons morphology, Ataxia, Acroparesthesia, Mental deterioration, Abnormal medulla oblonga... ORPHA:206448
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... OMIM:613388
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Recurrent... OMIM:606367
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impair... ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Systemic Lupus Erythematosus
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis OMIM:152700
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Septopreoptic Holoprosencephaly
Impulsivity, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology, Cent... ORPHA:280195
Pediatric Systemic Lupus Erythematosus
Dark urine, Discoid lupus rash, Nephrotic syndrome, Nephritis, Skin rash, Abnormality of the urin... ORPHA:93552
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin,... OMIM:608594
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Renal insufficiency ORPHA:2165
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Paucity of anterior horn motor n... ORPHA:79139
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hypoplasia of the pons, Abnormal brainstem morphology, Olivopontocereb... ORPHA:370959
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Leigh Syndrome
Failure to thrive, Ataxia, Abnormal brainstem MRI signal intensity, Progressive neurologic deteri... ORPHA:506
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Decreased s... ORPHA:465508
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, ... OMIM:208085
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Pseudohypoparathyroidism Type 1A
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced... ORPHA:79443
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Decreased body weight, Abnormal hypothalamus morphology ORPHA:314621
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Pyoderma gangrenosum OMIM:619986
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss OMIM:612075
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Progeria-Short Stature-Pigmented Nevi Syndrome
Paresthesia, Abnormality of thalamus morphology, Cognitive impairment, Small for gestational age ORPHA:2959
Alzheimer Disease 4
Cognitive impairment, Memory impairment, Neurofibrillary tangles, Cerebral amyloid angiopathy, De... OMIM:606889
Gómez-López-Hernández Syndrome
Ataxia, Impaired pain sensation, Abnormal brainstem morphology, Cognitive impairment ORPHA:1532
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation ORPHA:230
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... OMIM:130650
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Acute Disseminated Encephalomyelitis
Ataxia, Abnormal brainstem MRI signal intensity, Mental deterioration, Somatic sensory dysfunctio... ORPHA:83597
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Classic Mycosis Fungoides
Irregular hyperpigmentation, Splenomegaly, Erythema, Dry skin, Skin ulcer, Abnormal lymphocyte mo... ORPHA:2584
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Diabetes m... OMIM:606069
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hyperinsulinemia, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Elevate... OMIM:269700
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... ORPHA:505248
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Autosomal Recessive Spastic Paraplegia Type 11
Dysphagia, Obesity, Hypothalamic atrophy, Overweight ORPHA:2822
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Leukocytosis, Severe infection, Brain abscess,... ORPHA:544482
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Pulmonar... ORPHA:183675
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Thyroid dysgenesis, Hypo... ORPHA:209905
Familial Hypoaldosteronism
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Proximal renal... ORPHA:427
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Large for gesta... ORPHA:116
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Hepatomegaly, Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, La... OMIM:604273
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Adrenal hypoplasia, Microphallus OMIM:612651
Hydroxykynureninuria
Jaundice, Aminoaciduria OMIM:236800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia OMIM:612286
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... OMIM:200995
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Recurrent otitis media, Recurrent skin infections, Abnormality of the kidney, ... ORPHA:391372
Aceruloplasminemia
Apathy, Ataxia, Limb ataxia, Cognitive impairment, Memory impairment, Chorea, Gait ataxia, Abnorm... ORPHA:48818
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Diaminopentanuria
Neurodegeneration OMIM:222350
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:911
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Hypokalemia, Precocious puberty, Decreased circulating cortis... ORPHA:90795
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Splenomegaly, Absent s... OMIM:102700
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Abnormality of the ki... ORPHA:91139
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Memory impairment, Neurofibrillary tangles, Frontotemporal dementi... OMIM:619132
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Renal hypoplasia/aplasia, Abnormality of the diencephalon ORPHA:2570
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... ORPHA:443811
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Hydroureter, Astrocytosis, Elevated hepati... ORPHA:90324
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogo... OMIM:602390
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233710
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... OMIM:307800
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Igg4-Related Retroperitoneal Fibrosis
Retrograde ejaculation, Impotence ORPHA:49041
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Recurrent bacter... OMIM:613179
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 32
Large for gestational age, Ataxia, Molar tooth sign on MRI, Tall stature OMIM:617757
Orofaciodigital Syndrome Vi
Renal agenesis, Failure to thrive, Renal dysplasia, Hypothalamic hamartoma OMIM:277170
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Progressive language deterioration, Memory impairment, Neurofibrillary tangles, Hypersexu... OMIM:607485
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Skin ulcer, Anemia ORPHA:33355
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Decreased nerve conduction ve... OMIM:256600
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:363558
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... OMIM:607665
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Lennox-Gastaut Syndrome
Mental deterioration, Personality disorder, Aggressive behavior, Abnormal brainstem morphology ORPHA:2382
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infection... ORPHA:486
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2