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Gene: Tsc1 MGI:1929183

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
TSC complex subunit 1
Synonyms:
tuberous sclerosis 1,  hamartin

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tsc1 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 Tsc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, ... OMIM:191100
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibr... ORPHA:805
Lymphangioleiomyomatosis
Abnormal urinary color, Ungual fibroma, Abnormal morphology of female internal genitalia, Pulmona... ORPHA:538
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Focal Cortical Dysplasia, Type Ii
OMIM:607341

The table below shows human diseases predicted to be associated to Tsc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Polyhydramnios, Splenomegaly, ... OMIM:619462
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Renal cyst, Multiple lipomas, Large ... OMIM:135150
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Increased nuchal transluce... ORPHA:295
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers OMIM:600273
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Schizophrenia 15
Hyperactivity OMIM:613950
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Pallor, Hepatomegaly, Hydrops fetalis, Pericarditis ORPHA:163596
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatome... OMIM:619433
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Ovarian thecoma, Nephroblastoma OMIM:180295
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Growth delay, Chyloperica... ORPHA:2414
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Splenomegaly, Hepatomegaly, Short stature, Hydrops fetalis ORPHA:2204
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormal peritoneum morphology ORPHA:48686
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P... ORPHA:60041
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Intrauterine growth reta... OMIM:231100
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Transaldolase Deficiency
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal... ORPHA:101028
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... ORPHA:139411
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Intrauterine growth retardation, Splenomegaly, Nonimmune hydrops fetalis, Hepatom... OMIM:608540
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Ethanolaminosis
Cardiomegaly OMIM:227150
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Multiple... ORPHA:220460
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Intrauterine growth retardation, Redundant neck skin, Neonatal death, Nonimmune h... OMIM:619003
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Sialidosis Type 2
Umbilical hernia, Ascites, Splenomegaly, Hepatomegaly, Short stature, Hydrops fetalis, Pedal edema ORPHA:87876
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Premature birth ORPHA:2123
Milroy Disease
Neoplasm of the skin, Angiosarcoma ORPHA:79452
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Pallor, Splenomegaly, Cholecystitis, Nonimmune h... OMIM:266200
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Renal cys... OMIM:617100
Mulibrey Nanism
Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Pericardial constriction, S... OMIM:253250
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Umbilical hernia, Breech presentation, Stillbirth, Polyhydramn... OMIM:600972
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis, Premature birth OMIM:269920
Glycogen Storage Disease Iv
Hepatic failure, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Decreased feta... OMIM:232500
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Acquired Ichthyosis
Lymphoma, Neoplasm, Renal insufficiency, Sarcoma, Multiple myeloma ORPHA:454
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carcinoma, Nephroblastoma,... OMIM:145001
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Short stature, H... OMIM:256550
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Diast... ORPHA:116
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Dystonia, Motor stereotypy OMIM:617820
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Urinary retention, Vaginal neoplasm, Neoplasm, Prostate cance... ORPHA:2126
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Single umbilical artery, Polyhydr... ORPHA:3405
Free Sialic Acid Storage Disease
Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:834
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... OMIM:620189
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Phakomatosis Pigmentokeratotica
Precocious puberty, Cutaneous melanoma, Pheochromocytoma, Unilateral renal hypoplasia, Cryptorchi... ORPHA:2874
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Renal dysplasia, Abnormal bil... ORPHA:3032
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Decreased fetal movement, Neonatal death, Fetal akinesia... ORPHA:85212
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... ORPHA:3077
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Epidermal Nevus Syndrome
Lipoma, Rhabdomyosarcoma, Polycystic kidney dysplasia, Spinal cord tumor, Weakness of long finger... ORPHA:35125
Congenital Enterovirus Infection
Fetal ascites, Hepatic failure, Hepatitis, Cardiomyopathy, Fetal distress, Cholestasis, Pleural e... ORPHA:292
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Chondrodysplasia, Blomstrand Type
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth OMIM:215045
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:603860
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... ORPHA:157794
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Hepatomegaly, Short stature, Jaundice, Growth delay OMIM:615631
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Atrial septal defect, Hepatome... OMIM:608776
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Pallor, Hep... OMIM:613561
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Meige Disease
Angiosarcoma ORPHA:90186
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Achondrogenesis
Severe short stature, Umbilical hernia, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:932
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops feta... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Nonimmune... OMIM:618835
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Umbilical hernia, Thickened nuchal skin fol... ORPHA:93298
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri... OMIM:620135
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:367
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Pleural effusion, Splenomeg... ORPHA:846
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Premature skin wrinkling, Ascites, Intra... ORPHA:79325
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anhydramnios, Pericardial effusion, Enlarged kidney OMIM:613885
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Thyroid Cancer, Nonmedullary, 4
Basal cell carcinoma, Ovarian neoplasm, Prostate cancer, Papillary thyroid carcinoma OMIM:616534
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao... OMIM:239850
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine growth retardation... ORPHA:858
Peripheral Cone Dystrophy
Pallor OMIM:609021
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function OMIM:600666
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Ascites, Cholestasis, Cardiomegaly, Cardiac myxoma... ORPHA:615
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Ventricu... OMIM:616897
Neurofibromatosis, Type I
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Renal artery stenosis, Plexiform ne... OMIM:162200
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Mild postnatal growth retardation, Pleural... OMIM:265300
Achondrogenesis Type 1A
Severe short stature, Umbilical hernia, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:93299
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Premature skin wrinkling, Abnormal heart valve morphol... ORPHA:363705
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Klippel-Trénaunay Syndrome
Ascites, Abnormal tricuspid valve morphology, Atrial septal defect, Hepatomegaly, Hydrops fetalis... ORPHA:90308
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Hydronephrosis, Fibroma, Desmoid tumors ORPHA:873
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Hepatom... ORPHA:848
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, As... OMIM:619487
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Decreased liver function, Ascites, Intrauterine growth retardation, O... OMIM:617021
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Uterine neoplasm, Vaginal neoplasm, Stage 5 chronic kidney d... ORPHA:1018
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Neopla... ORPHA:370348
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis, Severe short-limb dwarfism ORPHA:1263
Gaucher Disease, Perinatal Lethal
Hepatic failure, Desquamation of skin soon after birth, Ascites, Intrauterine growth retardation,... OMIM:608013
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci... OMIM:158320
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian... OMIM:175200
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ... OMIM:618775
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Action tremor, Tremor, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysto... OMIM:619738
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Pleural ... OMIM:617049
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Pallor, Splenomegaly, Myocarditis, Hepatomegaly, Edema ORPHA:3386
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated c... OMIM:620609
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H... OMIM:601927
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Prolonged neonatal jaundice, Hydrops fetalis, Splenomegaly ORPHA:766
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Polycystic liver disease ORPHA:2924
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Galactosialidosis
Severe short stature, Hepatosplenomegaly, Visceromegaly, Nonimmune hydrops fetalis OMIM:256540
Lymphatic Malformation 6
Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff... OMIM:616843
Liposarcoma
Sarcoma ORPHA:69078
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Decreased fetal movement, Atrial se... OMIM:620070
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Atrial septal defect, Ventricular septal defect ORPHA:49827
Gm1-Gangliosidosis, Type I
Severe short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve m... OMIM:230500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Splenomegaly, Hepatomegal... ORPHA:36412
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Hydrops fetalis OMIM:616738
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
Joubert Syndrome 15
Exencephaly OMIM:614464
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Breath-Holding Spells
Pallor OMIM:607578
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Abnormal endometrium mor... ORPHA:314478
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver ORPHA:140976
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Muscular dystrophy, Rhabdomyosarcoma, Vaginal neoplasm, Stomach can... ORPHA:1052
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... ORPHA:276575
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal insufficie... ORPHA:99880
Drug-Induced Lupus Erythematosus
Pericardial effusion, Petechiae, Pericarditis ORPHA:231111
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Hsd10 Disease
Tremor, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Disproportionate short-trunk short stature, Stillbirth... OMIM:200610
Primary Intestinal Lymphangiectasia
Generalized edema, Peritoneal effusion, Ascites, Pleural effusion, Pericardial effusion, Growth d... ORPHA:90362
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Periph... OMIM:261740
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Cardiomegaly, Fetal ... OMIM:617022
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, ... OMIM:191100
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carc... ORPHA:143
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Splenomegaly, Elevated hepatic iron concentration, Hepatomegaly, Growth delay OMIM:615234
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea... OMIM:614883
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Mucopolysaccharidosis Type 7
Hepatitis, Lymphedema, Ascites, Umbilical hernia, Splenomegaly, Hydrops fetalis ORPHA:584
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Abnormality of the... ORPHA:2869
Campomelia, Cumming Type
Lymphedema, Oligohydramnios, Hydrops fetalis, Hepatomegaly, Pancreatic cysts, Abnormality of the ... ORPHA:1318
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
Aicardi Syndrome
Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma OMIM:304050
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo... ORPHA:201
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Skeletal muscle atrophy, Lymphoma, Neoplasm, B-cell lymphoma, T-cell lymp... ORPHA:647
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... OMIM:611134
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Pleural effusion OMIM:613011
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm ... ORPHA:83469
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Inability to walk, Bruxism, Inappropriate laughter, Ga... ORPHA:3095
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:77261
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Pallor, Splenomegaly, Lymphedema ORPHA:3226
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Skeletal muscle atrophy, Lymphoma, Capillary hemangioma, Meningioma, Thyroid ca... ORPHA:109
Hereditary Elliptocytosis
Cholelithiasis, Skin ulcer, Postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundi... ORPHA:288
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst, Embryona... OMIM:257300
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Renal neoplasm, Sarcoma, Neoplasm of the central nervous system ORPHA:69077
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cholestasis, Ele... OMIM:609015
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Neonatal death OMIM:613390
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Mosaic Trisomy 9
Asplenia, Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroelas... ORPHA:99776
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormality of the liver... ORPHA:88618
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Splenomegaly, Hepato... ORPHA:507
Optic Atrophy 1
Pallor OMIM:165500
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Joubert Syndrome 20
Renal cyst OMIM:614970
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Pallor ORPHA:99931
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Anemia, Congenital Dyserythropoietic, Type Ia
Mild postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Hydro... OMIM:224120
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepati... OMIM:212065
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Petechiae, Hepatomegal... ORPHA:824
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Polyhydramnios, Patent foramen ovale, Ventricular sept... OMIM:620519
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Multiple renal cysts, Paragangl... OMIM:193300
Trisomy 13
Intrauterine growth retardation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect ORPHA:3378
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Umbilical hernia, Lymphedema, Mild postnatal growth retardation, Pleural effus... OMIM:235510
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Neonatal death, Nonim... OMIM:620167
Congenital Syphilis
Hepatosplenomegaly, Intrauterine growth retardation, Large placenta, Palmoplantar scaling skin, P... ORPHA:499009
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Hepatic ... OMIM:614922
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease OMIM:211890
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Nijmegen Breakage Syndrome
Glioma, Lymphoma, Medulloblastoma, Hydronephrosis, Rhabdomyosarcoma OMIM:251260
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Rheumatic Fever
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... ORPHA:3099
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Patent foramen ovale, Nonimmune hydrops fetalis,... OMIM:620244
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Pleural effusio... OMIM:235200
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Hypop... OMIM:212093
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc... OMIM:212140
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Patent foramen o... ORPHA:26793
Autoinflammatory Disease, Systemic, With Vasculitis
Periorbital edema, Hepatic fibrosis, Erythema, Cholestasis, Elevated circulating aspartate aminot... OMIM:620376
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Reduced social reciproci... OMIM:615157
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Hepatosplenomegaly, Pallor OMIM:611590
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Neonatal death OMIM:614096
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Poems Syndrome
Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Pericardial effusion, Edema ORPHA:2905
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaund... ORPHA:822
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Disproportionate short-limb short stature ORPHA:85166
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... ORPHA:231222
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia OMIM:614815
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Ecchymosis, Abnormal spleen morphology, Peric... ORPHA:464329
Evans Syndrome
Jaundice, Pallor, Petechiae ORPHA:1959
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Endometrial carcinoma, Melanoma, Ureteral duplication, Breast carcinoma ORPHA:457212
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intrauterine growth reta... OMIM:617713
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:333
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Pleural effusion ORPHA:79126
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Ring Chromosome 12 Syndrome
Glandular hypospadias, Hemangioma, Cryptorchidism, Uterine leiomyoma ORPHA:1439
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Increased placental thickness, Abnormal heart morphology, Encephalocele, Si... ORPHA:1865
Gm1 Gangliosidosis
Cardiomyopathy, Abnormal heart morphology, Hepatosplenomegaly, Splenomegaly, Ventricular septal d... ORPHA:354
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Alg9-Cdg
Rhizomelia, Periportal fibrosis, Thickened nuchal skin fold, Abnormal heart morphology, Oligohydr... ORPHA:79328
Yellow Nail Syndrome
Nephropathy, Biliary tract neoplasm, Neoplasm, Renal neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hepatic fibrosis, Hydrops fetalis, Ascites OMIM:614091
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Ventricular septal defect ORPHA:261344
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Meningocele, Anencephaly, Bile duct proliferation OMIM:603194
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Mucopolysaccharidosis, Type Vii
Severe short stature, Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Postnata... OMIM:253220
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Pleural effusion, Edema, Ascites ORPHA:93552
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif... ORPHA:97685
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Male pseudohermaphroditism,... ORPHA:90790
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pulmonary edema, Pleural effusion, Pedal edema ORPHA:199241
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... ORPHA:231226
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Increased urinary cortisol level, Pituitary null cell adenoma, ... ORPHA:276152
Greenberg Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Hepatosplenomegaly, Large placenta, Increa... OMIM:215140
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... OMIM:609053
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Fibroma OMIM:619750
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Short stature, Hydro... OMIM:613673
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Nonimmune hydrops fetalis OMIM:618265
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Umbilical hernia, Nonimmune hydrops fetalis, Stillbirt... OMIM:269250
Cirrhotic Cardiomyopathy
Ascites, Peripheral edema, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, P... ORPHA:57777
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Intrauterine growth retardation, Hepatosplenomegaly, Hydrops fetalis, Abnormal pl... ORPHA:79255
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Sepsis In Premature Infants
Decreased liver function, Pallor, Splenomegaly, Petechiae, Caesarian section, Hepatomegaly, Jaund... ORPHA:90051
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Ascites, Polyhydramnios, Pleural effusion, Pericardial effusion OMIM:618183
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Cranioectodermal Dysplasia 2
Rhizomelia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613610
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibr... ORPHA:805
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Pallor, Splenomegaly ORPHA:75564
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Renal cyst, Cirrhosis, Hepatomegaly OMIM:602579
Achondrogenesis, Type Ia
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Disproportionate sh... OMIM:200600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Exostoses, Uterine leiomyoma OMIM:616482
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... ORPHA:231214
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Aicardi-Goutieres Syndrome 7
Hepatitis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Splenom... OMIM:615846
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Retinitis Pigmentosa 51
Pallor OMIM:613464
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Stage... OMIM:208540
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Ductus venosus agenesis, Situs inversus totalis, Patent fo... OMIM:620642
Osteogenesis Imperfecta, Type Ii
Disproportionate short-limb short stature, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal... OMIM:618652
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Dermal translucency, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Waldenström Macroglobulinemia
Periorbital edema, Pleural effusion, Splenomegaly, Pallor, Hepatomegaly, Purpura, Pedal edema ORPHA:33226
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Mild postnatal growth retardation, Splenomegaly, Pericardial ef... ORPHA:2136
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Fibrochondrogenesis 1
Rhizomelia, Hydrops fetalis, Patent foramen ovale, Stillbirth OMIM:228520
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Meckel Syndrome, Type 6
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... OMIM:612284
Triploidy
Intrauterine growth retardation, Abnormality of the gallbladder, Hydrocephalus, Abnormal cardiac ... ORPHA:3376
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnorma... ORPHA:699
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Splenomegaly ORPHA:90033
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Beta-Ketothiolase Deficiency
Hepatomegaly, Pallor, Dehydration, Edema ORPHA:134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Malformation of the hepatic ductal plate, Hypospadias OMIM:614175
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay, Edema ORPHA:329971
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Elevated hep... ORPHA:300298
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Nephronophthisis 11
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid... OMIM:613550
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Edema, Pallor, L... ORPHA:20
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... OMIM:137920
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... OMIM:617667
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the liver, Renal hyp... ORPHA:1834
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran... OMIM:605275
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Ascites, Pallor, Bilateral fetal pyelectasis, Perimemb... OMIM:606812
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Polyhydramnios, Decreased fetal movement, Nonimmune hydrops fetalis, B... OMIM:620369
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Elevated circulating alani... OMIM:246450
Senior-Boichis Syndrome
Chronic kidney disease, Malformation of the hepatic ductal plate, Renal hypoplasia, Hepatic fibro... ORPHA:84081
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema ORPHA:3137
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor OMIM:246400
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Proteinuria, Fibrosarcoma ORPHA:33001
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr... OMIM:153400
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Costello Syndrome
Vestibular schwannoma, Renal insufficiency, Achilles tendon contracture, Macroglossia, Bladder ca... OMIM:218040
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... OMIM:267010
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Young-Onset Parkinson Disease
Depression, Gait imbalance, Restless legs, Agitation, Tremor, Reduced social reciprocity, Dystoni... ORPHA:2828
Dravet Syndrome
Pallor ORPHA:33069
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Redundant skin, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegaly,... OMIM:620371
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy, Hepatic calcification ORPHA:73224
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Elevated circulating hepatic transaminase concentration, Pallor ORPHA:98870
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis ORPHA:2031
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Abnormal heart morphology, Intrauterine growth retardation, Jaundice, Hyd... ORPHA:79282
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly OMIM:300908
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Polyhydramnios, Microvesicular hepatic steatosis, Bilateral fetal pyelectasis, Br... OMIM:300868
Gaucher Disease
Aortic valve calcification, Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnor... ORPHA:355
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatosplenome... ORPHA:167
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly OMIM:601539
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H... ORPHA:445038
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Wildervanck Syndrome
Meningocele ORPHA:3456
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior, Agitation, Disinhibition ORPHA:1020
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Annular pancreas, Tetralogy of Fallot, Atrioventr... OMIM:265380
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Humero-Radial Synostosis
Meningocele ORPHA:3265
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Atrial septal defect, Polyhydramnios, Hydrops fetalis, Anencephaly OMIM:616546
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis ORPHA:348
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Single umbili... OMIM:601005
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Cystic Echinococcosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hepatic cysts... ORPHA:400
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Mgat2-Cdg
Abnormal heart morphology, Hydrops fetalis, Ventricular septal defect ORPHA:79329
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Joint swelling, Splenomegaly, Cardiomegaly, Chronic hepatic ... ORPHA:465508
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor ORPHA:331206
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Hepatic failure, Stage 5 chronic kidney disease, Hepatic calcification, Hepatome... ORPHA:157
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel... ORPHA:261265
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Ventricular septal defect, Atrial septal defect, Pancreatic fibrosis, Hydrops f... OMIM:263520
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social... ORPHA:309256
Mogs-Cdg
Generalized edema, Hepatosplenomegaly, Polyhydramnios, Cardiomegaly, Pulmonary edema, Left ventri... ORPHA:79330
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Aymé-Gripp Syndrome
Short stature, Postnatal growth retardation, Pericardial effusion, Pericarditis ORPHA:1272
Retinitis Pigmentosa 75
Pallor OMIM:617023
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios,... ORPHA:96191
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Neonatal short-limb short stature, Polyhydramnios, Hydrops fetalis, Premature birth ORPHA:50945
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect, Birth length l... OMIM:139210
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Perlman Syndrome
Renal hamartoma, Nephroblastomatosis, Congenital diaphragmatic hernia, Cryptorchidism, Nephroblas... OMIM:267000
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Mody
Nephropathy, Glycosuria, Renal cyst, Abnormality of the kidney, Hepatocellular adenoma ORPHA:552
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Hepatic failure, Ascites, Splenomegaly, Cholecystitis, Ecchymosis, Purpura, H... ORPHA:99827
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Renal dysplasia, Elevated circulating as... OMIM:608836
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Hydrops fetalis, Meningocele ORPHA:2879
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Portal fibrosis, Elevated circulating hepatic transaminase concentration,... ORPHA:3260
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall... ORPHA:887
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Hepatic failure, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, ... ORPHA:228308
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Fetal distress, Ascites, Polyhydramnios, Cardiomegaly, Pancreatic calcif... ORPHA:51608
Histiocytoid Cardiomyopathy
Pallor, Ventricular septal defect, Pulmonary edema, Cardiomegaly, Hepatomegaly ORPHA:137675
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Intrauterine growth retardation, Oligohydramnios, Cardiomyopathy ORPHA:158687
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Niemann-Pick Disease Type C
Fetal ascites, Hepatic failure, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomega... ORPHA:646
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Dextrocardia, Spina bifida occulta ORPHA:2437
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Multiple Pterygium Syndrome, Escobar Variant
Short stature, Hydrops fetalis, Decreased fetal movement, Umbilical hernia OMIM:265000
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Increased nuchal translucency,... ORPHA:3472
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect ORPHA:268249
Lymphangioleiomyomatosis
Abnormal urinary color, Ungual fibroma, Abnormal morphology of female internal genitalia, Pulmona... ORPHA:538
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatoblastoma, Jaundice, Polycysti... ORPHA:731
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth OMIM:602522
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... OMIM:243910
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Endolymphatic sac tumor, Pancreatic cysts, Neoplasm of the pancreas... ORPHA:892
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Steinert Myotonic Dystrophy
Neoplasm of the skin, Choroidal melanoma, Brain neoplasm, Pelvic girdle muscle weakness, Abnormal... ORPHA:273
Tay-Sachs Disease
Pallor OMIM:272800
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Elevated circulating h... OMIM:614527
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty, Pallor ORPHA:91347
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac... ORPHA:79404
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Intention tremor, Progressive gait ataxia, Dystonia, Abnormal social behavior ORPHA:309263
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating hepatic transaminase concentra... ORPHA:26791
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Hypersplenism, Splenomegaly, Hepatomegaly, Hydrops fetalis, Hepatocellular carcinoma ORPHA:3261
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Cholestasis, Portal hypertension, Renal cyst, Hepatomegaly, Pancreat... OMIM:610199
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Amish Lethal Microcephaly
Hepatomegaly, Spina bifida ORPHA:99742
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Pleural effusion OMIM:181000
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Peripheral edema, Pleural effusion, Cardiomegaly, Hepatom... ORPHA:1677
Diamond-Blackfan Anemia
Abnormal heart morphology, Pallor, Ventricular septal defect, Nonimmune hydrops fetalis, Atrial s... ORPHA:124
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice OMIM:603903
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Postnatal growth retardation, Cardiomegaly OMIM:613320
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... ORPHA:1393
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Portal hypertension, Hepatic cysts, Abnormal bladder... ORPHA:284
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Hepatomegaly ORPHA:488618
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter, Megacystis ORPHA:2241
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of... ORPHA:261494
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Midline facial capillary hemangioma, ... OMIM:146510
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Esophageal Atresia
Tetralogy of Fallot, Absence of stomach bubble on fetal sonography, Pallor, Ventricular septal de... ORPHA:1199
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Pallor, Splenomegaly ORPHA:98849
Zellweger Syndrome
Multicystic kidney dysplasia, Hepatic failure, Hydronephrosis, Hepatomegaly, Jaundice, Hypospadias ORPHA:912
Metachromatic Leukodystrophy, Adult Form
Depression, Difficulty walking, Emotional lability, Progressive gait ataxia, Dystonia, Intention ... ORPHA:309271
Degcags Syndrome
Cholestasis, Intrauterine growth retardation, Hepatosplenomegaly, Polyhydramnios, Pallor, Patent ... OMIM:619488
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hemangioma, Renal agenesis ORPHA:1297
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Micropenis, Sarcoma ORPHA:96123
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Meningocele, Anomalous p... ORPHA:2311
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepatosp... OMIM:614866
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Cardiomegaly, Fetal distress, Dilated cardiomyopathy OMIM:208000
48,Xxxy Syndrome
Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or... ORPHA:96263
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis, Polycystic kidney dysplasia OMIM:214110
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Ventricular septal defect OMIM:614424
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Renal cyst, Hepatic agenesis, Micropenis ORPHA:1692
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Pallor, Pancreatitis, Myocarditis, Pleural empyema, Edema ORPHA:544482
Alternating Hemiplegia Of Childhood
Pallor, Dehydration, Cardiomyopathy ORPHA:2131
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Ovarian carcinoma, ... OMIM:158350
Limb Body Wall Complex
Abnormal heart morphology, Myelomeningocele, Abnormality of the liver, Encephalocele, Short umbil... ORPHA:2369
Gitelman Syndrome
Pericardial effusion, Delayed puberty, Neoplasm of the pancreas ORPHA:358
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Pallor, Ventricular septal defect, Atrial septal defect, Short s... OMIM:105650
Pseudo-Torch Syndrome 3
Cardiomegaly, Premature birth OMIM:618886
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Renal cyst, Renal hypoplasia, Stillbirth OMIM:616300
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Elevated urine mevalonic acid level OMIM:260920
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Pallor, Hepatomegaly, Growth delay ORPHA:667
Ogden Syndrome
Facial wrinkling, Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Bicus... OMIM:300855
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hamartoma of tongue, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, A... OMIM:130650
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Cholestasis, Hepatosplenomegaly, Stage 5... OMIM:266920
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Abnormal heart morphology OMIM:600901
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Fucosidosis
Dry skin, Splenomegaly, Petechiae, Cardiomegaly, Hepatomegaly, Short stature OMIM:230000
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Splenomegaly, Edema, Nonimmune hydrops fetalis ORPHA:95159
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Pulmonary edema, Cardiomyopathy OMIM:105210
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Anemic pallor, Ventricular septal defect OMIM:227645
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septa... OMIM:602782
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Increased nuchal translucency, Partial atrioventricular canal defe... OMIM:620066
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Pallor OMIM:277400
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Abnormal heart morphology OMIM:227650
Joubert Syndrome 1
Nephropathy, Renal cyst, Hepatic fibrosis OMIM:213300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Lef... OMIM:245600
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Fetal akinesia sequence, Umbilical hernia OMIM:618143
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Renal cy... OMIM:261515
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:308552
Adenohypophysitis
Pallor ORPHA:95512
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Aregenerative Anemia
Pallor ORPHA:101096
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau... ORPHA:369837
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Pleural effusion, Splenomegaly OMIM:232300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Abnormal social behavior, Ataxia, Unsteady gait, Intention tremor... ORPHA:314647
Panhypophysitis
Pallor ORPHA:95513
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele, P... OMIM:130720
Schinzel-Giedion Syndrome
Abnormality of the ureter, Ependymoma, Teratoma, Nephroblastoma, Nephrolithiasis, Hydronephrosis,... ORPHA:798
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation, Renal dysplasia OMIM:617107
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Periportal fibrosis, Hamartoma of tongue, Neonatal death, Hepatomegaly, Cystic ... OMIM:269860
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Abnormality of the liver, Hepatoblastoma, Cirrhosis, Hepatome... ORPHA:84064
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Pagod Syndrome
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Encephalocele, Spina b... ORPHA:991
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Duplicated collecting system, Renal hypoplasia, Hepatic failu... OMIM:118450
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Muscular edema, Right ventricular hypertrophy ORPHA:268
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Cutis la... ORPHA:95430
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal heart v... ORPHA:3384
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Thickened nuchal skin fold OMIM:620306
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia ORPHA:1517
Lathosterolosis
Intrahepatic cholestasis, Hepatic failure, Intrauterine growth retardation, Hepatomegaly, Meningo... ORPHA:46059
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Acute hepatic failure, Renal hypoplasia/aplasia, ... ORPHA:2092
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia, Ventricular septal defect ORPHA:2789
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena... ORPHA:2538
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Fanconi Anemia, Complementation Group D2
Short stature, Anemic pallor, Annular pancreas, Abnormal heart morphology OMIM:227646
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Splenomegaly, Edema, Nonimmune hydrops fetalis ORPHA:79277
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney OMIM:606232
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Mucolipidosis Ii Alpha/Beta
Myelopathy, Umbilical hernia, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Severe pos... OMIM:252500
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Fg Syndrome Type 1
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior, Broad-b... ORPHA:93932
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Neoplasm, Nephroblastoma, Hydronephrosis, Hepatoblasto... ORPHA:373
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Orofaciodigital Syndrome I
Hepatic fibrosis, Hamartoma of tongue, Hepatic cysts, Ovarian cyst, Proteinuria, Hypothalamic ham... OMIM:311200
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting sys... OMIM:270400
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Meckel Syndrome 14
Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Lymphedema ORPHA:79280
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Ureteral duplication, Hypospadias OMIM:229850
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardation, Patent foramen ovale, Ventr... OMIM:216340
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Hydronephrosis, Lisch nodules, Hemangioma, Optic nerve glioma, Spi... ORPHA:363700
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Reduced social reciprocity, Skin-picking, Attention defic... ORPHA:177907
Trisomy 18
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Spina bifida, H... ORPHA:3380
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Intrauterine growth retardation, Cardiomegaly, Abnormal cardiac... ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea... OMIM:618278
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Odontogenic neoplasm, Elevated circulating hepatic transaminase con... ORPHA:2750
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Mucopolysaccharidosis Type 3
Umbilical hernia, Splenomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morpholog... ORPHA:581
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... ORPHA:75565
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Car... ORPHA:14
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Neuroblastoma
Anemic pallor ORPHA:635
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Disproportionate short-limb short stature, Congenital hepatic fibrosis ORPHA:93271
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Neoplasm of the skin, Odontogenic neoplasm, Nephrocalcinosis, Oligosacchariduria, ... ORPHA:534
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... ORPHA:2044
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Distal Deletion 12Q
Pituitary adenoma, Vesicoureteral reflux, Biliary atresia, Hydronephrosis, Ectopic kidney, Microp... ORPHA:96149
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Elevated circulating hepatic transaminase concentration, Occipital encephalocele ORPHA:397715
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Dry skin, H... ORPHA:51
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Exocrine pancreatic insufficiency, Truncus ar... ORPHA:508498
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Capillary hemangioma, Displacement of the urethral meatus ORPHA:1556
1P36 Deletion Syndrome
Abnormality of the liver, Hepatic steatosis, Hydronephrosis, Renal cyst, Abnormality of the kidne... ORPHA:1606
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Proteus Syndrome
Rib exostoses, Long penis, Capillary hemangioma, Meningioma, Exostosis of the external auditory c... ORPHA:744
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Vesicoureteral reflux, Hypospadias OMIM:616975
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Abnormality of the gallbladder, Fa... ORPHA:818
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Carney Complex
Follicular thyroid carcinoma, Neoplasm of the pharynx, Ovarian dermoid cyst, Neoplasm of the rect... ORPHA:1359
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
22Q11.2 Deletion Syndrome
Cholelithiasis, Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal ... ORPHA:567
Meckel Syndrome
Multicystic kidney dysplasia, Congenital hepatic fibrosis, Urethral atresia, Ureteral duplication... ORPHA:564
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
C Syndrome
Hepatomegaly, Renal cortical cysts OMIM:211750
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Anasarca, Lymphedema, ... ORPHA:79318
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Patent fo... OMIM:256520
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Prolonged neonatal jaundice, Renal cyst, Stillbirth, Micropenis, Polycystic kid... OMIM:210710
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Ventricular septal defect... OMIM:274000
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Hypoplasia of the bladder, Renal agenesis, Abnormality ... OMIM:249000
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Absent gallbladder, Pilomatrixoma, Biliary ... ORPHA:3310
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Intrauterine growth retardation,... ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Cyst of the ductus choledochus, Patent ductus arteriosus, Spina bi... OMIM:619480
Trisomy 10P
Multiple renal cysts, Absent gallbladder, Abnormality of the kidney ORPHA:171929
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:365
Bardet-Biedl Syndrome
Chronic kidney disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:110
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal... OMIM:192350
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Nail-Patella Syndrome
Spina bifida OMIM:161200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353281
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cardiomegaly, He... OMIM:256040
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Hajdu-Cheney Syndrome
Hepatomegaly, Multiple renal cysts, Hypospadias ORPHA:955
Mend Syndrome
Aggressive behavior, Hyperactivity, Abnormal social behavior ORPHA:401973
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Embryonal neoplasm, Nephroblastoma, Hydronephrosis, Renal cyst, Hepa... OMIM:312870
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Atri... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Atri... ORPHA:363958
Distal Deletion 15Q
Micropenis, Abnormal localization of kidney, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Occipital meningocele OMIM:277170
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Midface capillary hemangioma ORPHA:3103
Williams Syndrome
Renal hypoplasia, Nephrocalcinosis, Cholelithiasis, Recurrent urinary tract infections, Renal ins... ORPHA:904
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Accessory spleen, Mitral valve prolapse, Ventricular septal defect, Paten... OMIM:180849
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
C Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Midline facial capillary hemangioma, Renal hypopl... ORPHA:1308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Campomelic Dysplasia
Abnormal heart morphology, Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele OMIM:267750
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353277
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Patent ductus arterio... OMIM:134780
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Spina bifida, Neonatal death OMIM:614437
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth... OMIM:107480
Marfan Syndrome
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Branchiooculofacial Syndrome
Renal cyst, Hamartoma, Hypospadias, Renal agenesis OMIM:113620
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy... ORPHA:199
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Pleural effusion, Cardiomegaly, Mitral valve c... OMIM:182250
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Neonatal death, Hypospad... OMIM:308205
Roberts-Sc Phocomelia Syndrome
Long penis, Horseshoe kidney, Cavernous hemangioma of the face, Midface capillary hemangioma, Bil... OMIM:268300
Goodpasture Syndrome
Pallor OMIM:233450
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida OMIM:304120
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Holoprosencephaly 9
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus OMIM:610829
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, R... ORPHA:261552
Pallister-Killian Syndrome
Renal cyst, Hypospadias, Renal dysplasia, Stillbirth OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Focal Cortical Dysplasia, Type Ii
OMIM:607341

Histopathology

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

There is no histopathology data for Tsc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tsc1.

No publications found that use IMPC mice or data for Tsc1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tsc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tsc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tsc1em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Tsc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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