Registered for phenotyping at IMPC

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

Gene Summary

TSC complex subunit 1
tuberous sclerosis 1,  hamartin

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis 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
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Renal cyst, Multiple l... OMIM:135150
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... ORPHA:295
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Schizophrenia 15
Hyperactivity OMIM:613950
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:180295
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Hydrops fetalis, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal vei... OMIM:619433
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis ORPHA:2204
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Primary Effusion Lymphoma
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion ORPHA:48686
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis 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
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, P... ORPHA:2414
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... OMIM:231100
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Cirrhosis, Atrial septal d... ORPHA:101028
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... OMIM:608540
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Cardiomegaly OMIM:227150
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Pericardial effusion, Ascites OMIM:256150
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple... OMIM:232500
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine grow... OMIM:619003
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Intrauterine growth retardation,... OMIM:614702
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Jaundice, Renal cyst, Hepatosplenomegaly, Tub... OMIM:619902
Sialidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites ORPHA:87876
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites ORPHA:2123
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelith... OMIM:266200
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Growth delay, Pe... OMIM:253250
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonat... OMIM:600972
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Hydrops fetalis, Ascites OMIM:269920
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions OMIM:611092
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Neuraminidase Deficiency
Hepatomegaly, Short stature, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyo... OMIM:256550
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary renal cell ca... OMIM:145001
Acquired Ichthyosis
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma ORPHA:454
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... ORPHA:2126
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Leiomyosarcoma, Neoplasm, Vesicoureteral r... ORPHA:116
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis ORPHA:846
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites ORPHA:834
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous ret... ORPHA:555874
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal... OMIM:608776
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Fetal Gaucher Disease
Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abnormality of the... ORPHA:85212
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilater... ORPHA:2874
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Renal dysplasia, Abnormal liver ... ORPHA:3032
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma OMIM:612591
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... ORPHA:292
Epidermal Nevus Syndrome
Rhabdomyosarcoma, Weakness of long finger extensor muscles, Spinal cord tumor, Polycystic kidney ... ORPHA:35125
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... OMIM:618052
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor OMIM:615631
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Pallor, Hypertrophic cardiomyopathy OMIM:613561
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:932
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Meige Disease
Angiosarcoma ORPHA:90186
Achondrogenesis Type 1B
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Disproportionate short stature,... ORPHA:93298
Lynch Syndrome 8
Endometrial carcinoma OMIM:613244
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal de... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterin... OMIM:618835
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal aki... ORPHA:367
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Cutis laxa, Intrauterine ... ORPHA:79325
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios, Enlarged kidney OMIM:613885
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Thyroid Cancer, Nonmedullary, 4
Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Cardiomegaly, Jaundice, Intrauterin... ORPHA:858
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... OMIM:239850
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts OMIM:600666
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts ORPHA:3033
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Achondrogenesis Type 1A
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:93299
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Pedal edema, Cholestasis, Bacteria... ORPHA:615
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Edema, Portal hype... OMIM:619487
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Hypertrophic cardiomyop... OMIM:616897
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Premature birth, Bicuspid aortic valve, Polyhydramnios, Edema, Peri... ORPHA:363705
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Klippel-Trénaunay Syndrome
Hepatomegaly, Edema, Hydrops fetalis, Abnormal tricuspid valve morphology, Atrial septal defect, ... ORPHA:90308
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord ... ORPHA:370348
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... OMIM:617049
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... ORPHA:848
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Growth delay, Cirrh... ORPHA:77259
Boomerang Dysplasia
Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios ORPHA:1263
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... OMIM:617021
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Hepatomegaly, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:608013
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hy... OMIM:618775
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Prote... ORPHA:1018
Rhyns Syndrome
Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice ORPHA:766
Visceromegaly, Severe short stature, Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial septal defect, O... OMIM:601927
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts ORPHA:2924
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Desmoid Tumor
Fibroma, Neoplasm of the skin, Hydronephrosis, Desmoid tumors ORPHA:873
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Myocarditis, Cardiomyopathy, Pallor ORPHA:3386
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Splenomegaly, Dilated cardio... OMIM:230500
Sarcoma ORPHA:69078
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ... OMIM:620070
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... OMIM:613254
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration OMIM:615234
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Pallor, Short stature ORPHA:49827
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Joubert Syndrome 15
Exencephaly OMIM:614464
Optic Atrophy 1
Pallor OMIM:165500
Breath-Holding Spells
Pallor OMIM:607578
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pl... ORPHA:36412
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi... OMIM:619738
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Hsd10 Disease
Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior ORPHA:391417
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... OMIM:175200
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Petechiae ORPHA:231111
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pa... ORPHA:276575
Achondrogenesis, Type Ii
Polyhydramnios, Edema, Disproportionate short-trunk short stature, Hydrops fetalis, Stillbirth, D... OMIM:200610
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276556
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... OMIM:617022
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... ORPHA:99880
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cyst, Renal ... OMIM:191100
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... ORPHA:157794
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Lymphoproliferative Syndrome 1
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly OMIM:613011
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst OMIM:614883
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Genera... ORPHA:90362
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... ORPHA:143
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Breech presentation, Increased myocardial glycogen content, B... OMIM:261740
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... ORPHA:1318
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Umbilical hernia, Ascites ORPHA:584
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell lymphoma, Ac... ORPHA:647
Aicardi Syndrome
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma OMIM:304050
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
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphobla... ORPHA:1052
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276580
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... OMIM:611134
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... ORPHA:201
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Neoplasm of the liver, Sarcoma ORPHA:69077
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Pallor, Lymphedema ORPHA:3226
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Dil... OMIM:609015
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarc... OMIM:257300
Fanconi Anemia, Complementation Group O
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Polyhydramnios, Abnormal heart valve morphology, Aspleni... ORPHA:99776
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Polysyndactyly With Cardiac Malformation
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Hydrops fetalis, Growth delay, Cardiomyopathy, Abnormality of the ... ORPHA:88618
Splenomegaly, Pallor, Purpura OMIM:254450
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Joubert Syndrome 20
Renal cyst OMIM:614970
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Hydrops fetalis, Prolonged neonata... OMIM:224120
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Visceral angiomatosis, Lymphoma, Hamarto... ORPHA:109
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor ORPHA:507
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Trisomy 13
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... OMIM:212065
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Combined Oxidative Phosphorylation Deficiency 57
Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Fetal pleural effusion,... OMIM:620167
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... OMIM:614922
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... OMIM:235200
Hereditary Elliptocytosis
Postnatal growth retardation, Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundic... ORPHA:288
Nijmegen Breakage Syndrome
Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastoma, Hydronephrosis OMIM:251260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia OMIM:211890
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Pallor, Cardiomegaly ORPHA:99931
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jau... ORPHA:26793
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... ORPHA:824
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Neona... OMIM:620244
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... ORPHA:231222
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:444002
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Hydrops fetalis, Polyhydramnios ORPHA:85166
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor, Hepatosplenomegaly OMIM:611590
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallo... ORPHA:822
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Edema, Tricuspid stenosis, Valvular pulmonary... OMIM:212093
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Short stature, Hy... ORPHA:333
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Joubert Syndrome 18
Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney OMIM:614815
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Endometrial carcinoma, Breast carcinoma, Duplication of renal pelvis, Melanoma ORPHA:457212
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Dehy... OMIM:557000
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplenomegaly, Abnormal spleen morphol... ORPHA:464329
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Biliary tract neoplasm, Esophageal neoplasm, Enl... ORPHA:2869
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper... OMIM:617713
Gm1 Gangliosidosis
Premature birth, Ventricular septal defect, Short stature, Splenomegaly, Hydrops fetalis, Abnorma... ORPHA:354
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Precocious puberty, ... ORPHA:97685
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Ring Chromosome 12 Syndrome
Cryptorchidism, Uterine leiomyoma, Glandular hypospadias, Hemangioma ORPHA:1439
Evans Syndrome
Jaundice, Pallor, Petechiae ORPHA:1959
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Hydrops fetalis, Abnormal heart morphology, Single umbilical... ORPHA:1865
Trisomy 1Q
Increased nuchal translucency, Ventricular septal defect, Hydrops fetalis, Polyhydramnios ORPHA:261344
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis, Short stature OMIM:614091
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Thickened nuchal skin fold, Decreased fetal movement, Hepatomegaly, Ventricular septal defect, He... ORPHA:79328
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine growth retardation OMIM:603194
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal gro... OMIM:253220
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Mult... OMIM:216360
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Cholestasis, Stillbirth, H... OMIM:615415
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Nephropathy, Sarcoma ORPHA:662
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:93552
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Jaundice, Male pseudohermaphroditism, Breast carcinoma, Macroorchidism, Ab... ORPHA:90790
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor ORPHA:90037
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic card... OMIM:613673
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Skin ulcer, Chronic hepatitis, Hep... ORPHA:231226
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... OMIM:609053
Greenberg Dysplasia
Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large... OMIM:215140
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Nonimmune hydrops fetalis OMIM:618265
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Multiple renal cysts ORPHA:66637
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Sepsis In Premature Infants
Hepatomegaly, Premature birth, Edema, Splenomegaly, Jaundice, Decreased liver function, Pallor, C... ORPHA:90051
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Disproportionate short-limb short stature,... OMIM:269250
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy ORPHA:300751
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hepatosplenomegaly OMIM:619750
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Poems Syndrome
Edema, Pericardial effusion, Pleural effusion, Ascites, Visceromegaly ORPHA:2905
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... ORPHA:79303
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cholangitis, Polyhydramnios, Rhizomel... OMIM:613610
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema ORPHA:199241
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Intrauterine g... ORPHA:79255
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Disproportionate short-trunk short stature, Hydrop... OMIM:200600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Multiple Endocrine Neoplasia Type 4
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure OMIM:602579
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Hepatomegaly, Pallor ORPHA:75564
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Right atrial enlargement, Peripher... ORPHA:57777
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Urinary incontinence, Exostoses OMIM:616482
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Skin ulcer, Hepatosp... ORPHA:231214
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Malformation of the hepati... OMIM:208540
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Osteogenesis Imperfecta, Type Ii
Disproportionate short-limb short stature, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Retinitis Pigmentosa 51
Pallor OMIM:613464
Waldenström Macroglobulinemia
Hepatomegaly, Periorbital edema, Splenomegaly, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Fibrochondrogenesis 1
Rhizomelia, Stillbirth, Patent foramen ovale, Hydrops fetalis OMIM:228520
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hepatitis, Intrauterine growth retardati... OMIM:615846
Hennekam Syndrome
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetali... ORPHA:2136
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... OMIM:612284
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re... OMIM:137920
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Postnatal growth retardation, S... ORPHA:699
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent forame... OMIM:618652
Hepatomegaly, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormality of the gallbla... ORPHA:3376
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Jaundice, Pallor ORPHA:90033
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co... ORPHA:300298
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Edema ORPHA:329971
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate OMIM:614175
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Nephronophthisis 11
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Desmoid tumors, Adenocarcinoma of the colon ORPHA:247798
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Dilated cardiom... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Beta-Ketothiolase Deficiency
Hepatomegaly, Pallor, Edema, Dehydration ORPHA:134
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... OMIM:153400
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Breech present... OMIM:620369
Senior-Boichis Syndrome
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Malformation of the h... ORPHA:84081
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema ORPHA:3137
Fumarase Deficiency
Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic cholestasis, Perimembranous ventricular... OMIM:606812
Costello Syndrome
Renal insufficiency, Rhabdomyosarcoma, Achilles tendon contracture, Bladder carcinoma, Macrogloss... OMIM:218040
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Fibrosarcoma, Proteinuria ORPHA:33001
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, Abnormal heart morphology, Growth... ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Hepatic calcification, Pulmonary edema ORPHA:73224
Wildervanck Syndrome
Meningocele ORPHA:3456
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Microvesicular he... OMIM:300868
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Redundant skin, Mitral valve prolapse ORPHA:536532
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Edema, Pericardial effusion, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:167
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Dravet Syndrome
Pallor ORPHA:33069
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Pallor ORPHA:98870
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Agitation, Ataxia, Disinhibition ORPHA:1020