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Gene: Tsc2 MGI:102548

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
TSC complex subunit 2
Synonyms:
Nafld,  tuberin,  tuberous sclerosis 2

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 Tsc2 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 Tsc2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibr... ORPHA:805
Lymphangioleiomyomatosis
Abnormal urinary color, Ungual fibroma, Pulmonary lymphangiomyomatosis, Hematuria, Renal angiomyo... ORPHA:538
Focal Cortical Dysplasia, Type Ii
Cognitive impairment OMIM:607341
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690

The table below shows human diseases predicted to be associated to Tsc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
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
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
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 Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Ethanolaminosis
Cardiomegaly OMIM:227150
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers OMIM:600273
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Milroy Disease
Neoplasm of the skin, Angiosarcoma ORPHA:79452
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Renal cyst, Multiple lipomas, Large ... OMIM:135150
Acquired Ichthyosis
Lymphoma, Neoplasm, Renal insufficiency, Sarcoma, Multiple myeloma ORPHA:454
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Multiple renal cyst... ORPHA:220460
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Renal cys... OMIM:617100
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carcinoma, Nephroblastoma,... OMIM:145001
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Meige Disease
Angiosarcoma ORPHA:90186
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Liposarcoma
Sarcoma ORPHA:69078
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Hydronephrosis, Fibroma, Desmoid tumors ORPHA:873
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... OMIM:620135
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Breath-Holding Spells
Pallor OMIM:607578
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Ovarian Fibrothecoma
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma ORPHA:314478
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm ... ORPHA:83469
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Renal neoplasm, Sarcoma, Neoplasm of the central nervous system ORPHA:69077
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, ... OMIM:191100
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Aicardi Syndrome
Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma OMIM:304050
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Neonat... OMIM:614096
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co... ORPHA:2869
Optic Atrophy 1
Pallor OMIM:165500
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly, Hydrocephalus ORPHA:858
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Hemoglobin D Disease
Pallor ORPHA:90039
Yellow Nail Syndrome
Nephropathy, Biliary tract neoplasm, Neoplasm, Renal neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Joubert Syndrome 20
Renal cyst OMIM:614970
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Multiple renal c... OMIM:193300
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Hsd10 Disease
Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Axial Osteomalacia
Renal cyst OMIM:109130
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Fibroma OMIM:619750
Hb Bart'S Hydrops Fetalis
Pallor, Hydrocephalus ORPHA:163596
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation OMIM:618838
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia OMIM:619738
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Mulibrey Nanism
Growth delay, Intrauterine growth retardation, Cardiomegaly, Pericardial constriction, Hepatomega... OMIM:253250
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Pericardial effusion OMIM:614702
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... ORPHA:157794
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Increased urinary cortisol level, Pituitary null cell adenoma, ... ORPHA:276152
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Retinitis Pigmentosa 51
Pallor OMIM:613464
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal insufficie... ORPHA:99880
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carc... ORPHA:143
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Uterine neoplasm, Vaginal neoplasm, Stage 5 chronic kidney d... ORPHA:1018
Cowden Syndrome
Abnormal penis morphology, Neoplasm of the skin, Follicular thyroid carcinoma, Meningioma, Neopla... ORPHA:201
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrocephalus, Cardiomegaly, Splenomegaly OMIM:269920
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Proteinuria, Tubu... OMIM:618913
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Irida Syndrome
Pallor ORPHA:209981
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombo... ORPHA:49566
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Proteinuria, Fibrosarcoma ORPHA:33001
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibr... ORPHA:805
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Dravet Syndrome
Pallor ORPHA:33069
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Cardiomegaly, ... OMIM:212140
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Short stature OMIM:256550
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Intrauterine growth retardation, Myopathy, Cardiomegaly, Left ventricular hypertr... OMIM:617713
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Myelofibrosis
Purpura, Pallor OMIM:254450
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Retinitis Pigmentosa 75
Pallor OMIM:617023
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Cardiomegaly, Bicuspid aortic valve, ... OMIM:239850
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Cold Agglutinin Disease
Pallor ORPHA:56425
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Ho... ORPHA:1908
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
Elliptocytosis 1
Pallor OMIM:611804
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Abnormal social behavior, Agitation, Ataxia ORPHA:1020
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, Aq... OMIM:306955
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Jaundice, Tachycardia, Purpura, Diff... ORPHA:99827
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Cardiome... OMIM:616897
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Myelodysplasia, Multiple renal cysts ORPHA:1318
Tay-Sachs Disease
Pallor OMIM:272800
Trisomy 13
Capillary hemangioma, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephro... ORPHA:3378
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepatomegaly ORPHA:42
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Ventricular sept... OMIM:617022
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
American Trypanosomiasis
Pallor ORPHA:3386
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Mody
Nephropathy, Glycosuria, Renal cyst, Abnormality of the kidney, Hepatocellular adenoma ORPHA:552
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Epidermal Nevus Syndrome
Lipoma, Rhabdomyosarcoma, Polycystic kidney dysplasia, Spinal cord tumor ORPHA:35125
Refsum Disease, Classic
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, N... ORPHA:137605
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... ORPHA:324410
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Micropenis, Sarcoma ORPHA:96123
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Embryonal rhabdomyosarcoma, Micropenis,... OMIM:257300
Wildervanck Syndrome
Meningocele ORPHA:3456
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Senior-Loken Syndrome 8
Pallor OMIM:616307
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Intrauterine growth retardation, Camptodactyly of toe, Cardiomyopathy ORPHA:158687
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Humero-Radial Synostosis
Meningocele ORPHA:3265
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pancreatic cysts, Cerebellar hemangioblastoma, Neoplasm of the panc... ORPHA:892
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... ORPHA:79404
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Postnatal growth retardation, Short stature OMIM:613320
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of... ORPHA:261494
Lymphangioleiomyomatosis
Abnormal urinary color, Ungual fibroma, Pulmonary lymphangiomyomatosis, Hematuria, Renal angiomyo... ORPHA:538
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Letterer-Siwe Disease
Pallor OMIM:246400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter ORPHA:2241
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy OMIM:201475
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Hemangioma, Renal agenesis, Multicystic kidney dysplasia ORPHA:1297
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Fountain Syndrome
Spina bifida occulta, Spina bifida, Erythema ORPHA:3219
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Hellp Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Microangiopathic hemolytic ... ORPHA:244242
Focal Cortical Dysplasia, Type Ii
Cognitive impairment OMIM:607341
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney disease, Multiple glomerul... OMIM:267010
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Perlman Syndrome
Renal hamartoma, Nephroblastoma, Nephroblastomatosis OMIM:267000
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Pancreatic ... OMIM:208540
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, ... OMIM:608013
Cystic Echinococcosis
Renal cyst, Membranous nephropathy, Hepatic cysts, Ovarian cyst ORPHA:400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral duplication, Poly... OMIM:608836
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Midline facial capillary hemangioma, ... OMIM:146510
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ... ORPHA:340
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Growth delay, Rhabdomyolysis, Ventricular septal defect, Cardiomegaly, De... OMIM:614921
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Myopathy, C... OMIM:261740
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... ORPHA:96263
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia ORPHA:1517
Joubert Syndrome 14
Renal cyst OMIM:614424
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Ventricular sept... ORPHA:96191
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Splenomegaly, Mitral valv... OMIM:602782
Triploidy
Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele ORPHA:3376
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus ORPHA:2437
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Aregenerative Anemia
Pallor ORPHA:101096
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Adenohypophysitis
Pallor ORPHA:95512
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Fucosidosis
Hepatomegaly, Cardiomegaly, Decreased muscle mass ORPHA:349
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Panhypophysitis
Pallor ORPHA:95513
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Nephrotic syndrome, Proximal tubulopathy, Renal cyst OMIM:212065
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor, Hydrocephalus OMIM:277400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Pa... OMIM:245600
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Emotional lability, Abnormal social behavior ORPHA:309263
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia OMIM:268800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts OMIM:208500
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Short stature OMIM:208000
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Elevated urine mevalonic acid level OMIM:260920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Metachromatic Leukodystrophy, Adult Form
Depression, Difficulty walking, Emotional lability, Progressive gait ataxia, Abnormal social beha... ORPHA:309271
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau... ORPHA:369837
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:619259
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Pituitary Apoplexy
Pallor ORPHA:95613
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Jaun... ORPHA:99826
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Intrauterine growth retardation, Meningocele, Umbilical hernia ORPHA:2311
Yellow Fever
Neutrophilia, Abnormal bleeding, Pancreatic hyperplasia, Shock, Elevated circulating aspartate am... ORPHA:99829
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Polycystic kidney dysplasia, Hypospadias, Renal cortical microcysts OMIM:614866
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia,... ORPHA:1052
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fumarase Deficiency
Pallor OMIM:606812
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ventricular hypertrophy, Hepato... ORPHA:308552
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Splenomegaly, Cardiomegaly, Hepatomegaly ORPHA:465508
Prolactinoma
Pallor ORPHA:2965
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Intrauterine gro... ORPHA:3384
Kaposiform Lymphangiomatosis
Multiple renal cysts, Pancreatic cysts, Papilloma, Enlarged kidney ORPHA:464329
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia ORPHA:99776
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogr... OMIM:618143
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Joubert Syndrome With Hepatic Defect
Nephropathy, Neoplasm of the liver, Renal insufficiency, Multicystic kidney dysplasia ORPHA:1454
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia OMIM:610199
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Schinzel-Giedion Syndrome
Abnormality of the ureter, Ependymoma, Teratoma, Nephroblastoma, Nephrolithiasis, Hydronephrosis,... ORPHA:798
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Glycogen Storage Disease Ii
Firm muscles, Limb muscle weakness, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Incre... OMIM:232300
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele ORPHA:1393
Mucolipidosis Ii Alpha/Beta
Myelopathy, Arthrogryposis multiplex congenita, Umbilical hernia, Hypertrophic cardiomyopathy, Di... OMIM:252500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Renal cyst, Renal hypoplasia OMIM:616300
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Beckwith-Wiedemann Syndrome
Nephropathy, Neoplasm, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Adrenocortical car... ORPHA:116
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... OMIM:266920
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Papillo... ORPHA:2092
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Histiocytoid Cardiomyopathy
Pallor, Hydrocephalus ORPHA:137675
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Dry skin, Meningocele, Facial erythema, Scaling skin ORPHA:1010
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen... ORPHA:980
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Alveolar Echinococcosis
Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts ORPHA:284
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney OMIM:606232
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Diamond-Blackfan Anemia 1
Spina bifida occulta, Intrauterine growth retardation, Pallor OMIM:105650
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Broad-based gait, Abnormal social behavior, Compulsive ... ORPHA:93932
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Hydronephrosis, Lisch nodules, Hemangioma, Optic nerve glioma, Spi... ORPHA:363700
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, A... OMIM:130650
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Short stature, Gener... OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Thenar muscle atrophy, Hypoplasia of the musculature, Small hypothenar eminence ORPHA:2463
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Bohring-Opitz Syndrome
Congenital contracture, Intrauterine growth retardation, Facial hypotonia, Cardiomegaly, Abnormal... ORPHA:97297
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena... ORPHA:2538
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Limb hypertonia OMIM:620306
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Reduced social reciprocity, Skin-picking, Attention defic... ORPHA:177907
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Mucopolysaccharidosis Type 3
Umbilical hernia, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morpholog... ORPHA:581
Neuroblastoma
Anemic pallor ORPHA:635
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Facial capillary hemangioma, Uretero... OMIM:270400
Orofaciodigital Syndrome I
Hamartoma of tongue, Hepatic cysts, Ovarian cyst, Proteinuria, Hypothalamic hamartoma, Pancreatic... OMIM:311200
Esophageal Atresia
Pallor ORPHA:1199
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Neoplasm of the skin, Odontogenic neoplasm, Nephrocalcinosis, Oligosacchariduria, ... ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Neoplasm, Nephroblastoma, Hydronephrosis, Hepatoblasto... ORPHA:373
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,... ORPHA:2044
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Autosomal Recessive Malignant Osteopetrosis
Pallor, Hydrocephalus ORPHA:667
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Degcags Syndrome
Intrauterine growth retardation, Pallor OMIM:619488
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Polycystic kidney dysplasia, Micropenis OMIM:616546
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive cerebellar ataxia, Abnormal... ORPHA:314647
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Proteus Syndrome
Rib exostoses, Long penis, Capillary hemangioma, Meningioma, Exostosis of the external auditory c... ORPHA:744
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida, Lack of skin elasticity ORPHA:2671
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Orofaciodigital Syndrome Type 1
Odontogenic neoplasm, Multicystic kidney dysplasia, Hamartoma of tongue, Renal insufficiency, Pro... ORPHA:2750
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias OMIM:229850
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele, Redundant neck skin ORPHA:397715
Fanconi Anemia, Complementation Group D2
Anemic pallor, Hydrocephalus OMIM:227646
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Caroli Disease
Polycystic kidney dysplasia, Cholangiocarcinoma ORPHA:53035
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Patent foramen ovale, Cardiomegaly, Limb hypertonia, Hydrocephalus, Short stature OMIM:620371
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Ogden Syndrome
Secundum atrial septal defect, Umbilical hernia, Postnatal growth retardation, Intrauterine growt... OMIM:300855
Distal Deletion 12Q
Pituitary adenoma, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic ... ORPHA:96149
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Vesicoureteral reflux, Hypospadias OMIM:616975
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ven... ORPHA:365
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Displacement of the urethral meatus, Capillary hemangioma ORPHA:1556
Niemann-Pick Disease Type C
Depression, Low frustration tolerance, Disinhibition, Progressive gait ataxia, Aggressive behavio... ORPHA:646
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Facial capillary hemangioma, Urete... ORPHA:818
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hamartoma of tongue, Micropenis, Polycystic kidney dysplasia OMIM:263520
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Syndromic Diarrhea
Renal hypoplasia, Hepatoblastoma, Polycystic kidney dysplasia ORPHA:84064
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria ORPHA:699
Trisomy 18
Intrauterine growth retardation, Holoprosencephaly, Anencephaly, Spina bifida ORPHA:3380
Diamond-Blackfan Anemia
Pallor ORPHA:124
Hallermann-Streiff Syndrome
Dry skin, Spina bifida OMIM:234100
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
1P36 Deletion Syndrome
Hydronephrosis, Renal cyst, Abnormality of the kidney, Neuroblastoma, Hypoplasia of penis, Hyposp... ORPHA:1606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Hydrocephalus OMIM:253280
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Cranioectodermal Dysplasia 2
Renal cyst, Renal insufficiency OMIM:613610
Superficial Siderosis
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage ORPHA:247245
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Caroli Syndrome
Polycystic kidney dysplasia, Cholangiocarcinoma, Abnormality of the kidney ORPHA:480520
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ... ORPHA:2369
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Cutis Laxa, Autosomal Recessive, Type Ib
Dermal translucency, Cutis laxa, Spina bifida, Neonatal death OMIM:614437
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Autoinflammatory Disease, Systemic, With Vasculitis
Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:620376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Nail-Patella Syndrome
Spina bifida OMIM:161200
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Myopathy, Distal lower limb muscle weakness ORPHA:14
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia OMIM:210710
C Syndrome
Renal cortical cysts OMIM:211750
Mend Syndrome
Aggressive behavior, Hyperactivity, Abnormal social behavior ORPHA:401973
Distal Deletion 15Q
Micropenis, Abnormal localization of kidney, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
22Q11.2 Deletion Syndrome
Renal hypoplasia, Vesicoureteral reflux, Multiple renal cysts, Polycystic kidney dysplasia, Hypos... ORPHA:567
Williams Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Proteasome-Associated Autoinflammatory Syndrome 1
Growth delay, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Spleno... OMIM:256040
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ... OMIM:256520
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Urethral atresia ORPHA:564
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Midface capillary hemangioma ORPHA:3103
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Polycystic ovaries, Hydronephros... ORPHA:110
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Pilomatrixoma, Hydronephrosis, Multiple ren... ORPHA:3310
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi... ORPHA:51
Fibular Hemimelia
Spina bifida ORPHA:93323
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida ORPHA:991
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Embryonal neoplasm, Nephroblastoma, Hydronephrosis, Renal cyst, Hepa... OMIM:312870
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Liver Disease, Severe Congenital
Umbilical hernia, Dilatation of the ventricular cavity, Intrauterine growth retardation, Splenome... OMIM:619991
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Ventricular septal defect, Car... ORPHA:3472
C Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Midline facial capillary hemangioma, Renal hypopl... ORPHA:1308
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363958
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Fanconi Anemia
Hydrocephalus, Intrauterine growth retardation, Spina bifida, Umbilical hernia ORPHA:84
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureteral reflux, Ureth... OMIM:107480
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, Tendon rupture, Muscle fiber atrophy, Cardiome... OMIM:182250
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Femoral-Facial Syndrome
Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis OMIM:134780
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Branchiooculofacial Syndrome
Hypospadias, Hamartoma, Renal agenesis, Renal cyst OMIM:113620
Goodpasture Syndrome
Pallor OMIM:233450
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Marfan Syndrome
Striae distensae, Meningocele ORPHA:558
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Abnormal bleeding, Bruising susceptibility, Umbilical hernia, Transien... ORPHA:286
Vater/Vacterl Association
Intrauterine growth retardation, Occipital encephalocele, Spina bifida, Patent urachus OMIM:192350
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia OMIM:304120
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Renal dyspl... OMIM:308205
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
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
Roberts-Sc Phocomelia Syndrome
Long penis, Cavernous hemangioma of the face, Horseshoe kidney, Midface capillary hemangioma, Pol... OMIM:268300
Holoprosencephaly 9
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus OMIM:610829
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, R... ORPHA:261552
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification ORPHA:51608
Pallister-Killian Syndrome
Renal cyst, Hypospadias, Renal dysplasia OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Abnormal tendon morphology, Tendon xanthomatosis ORPHA:391665
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Pmm2-Cdg
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts ORPHA:79318

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 Tsc2

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 Tsc2.

No publications found that use IMPC mice or data for Tsc2.

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
Tsc2tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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