Not currently registered for phenotyping at IMPC

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

Gene Summary

TSC complex subunit 2
Nafld,  tuberin,  tuberous sclerosis 2

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 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.

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

Disease Similarity of
Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder 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
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
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
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal sarcoma, Nephrotic syndrome, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Cardiomegaly OMIM:227150
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Tumor Predisposition Syndrome
Lung adenocarcinoma, Cutaneous melanoma, Meningioma, Uveal melanoma, Renal cell carcinoma OMIM:614327
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Retinitis Pigmentosa 42
Pallor OMIM:612943
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Retinitis Pigmentosa 81
Pallor OMIM:617871
Birt-Hogg-Dube Syndrome
Multiple lipomas, Renal cyst, Renal neoplasm, Cutaneous leiomyoma, Colon cancer, Fibrofolliculoma... OMIM:135150
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Acquired Ichthyosis
Sarcoma, Multiple myeloma, Lymphoma, Neoplasm, Renal insufficiency ORPHA:454
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... OMIM:603860
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Retinitis Pigmentosa 60
Pallor OMIM:613983
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma OMIM:603641
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Nephrolithiasis, Renal cortical adenoma, Parathyroid adenoma, Hamartoma, P... OMIM:145001
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Neoplasm of the adrenal cortex, Chondrosarcoma, Hemangiomatos... ORPHA:163634
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, No social interaction, Unhappy demeanor, Anxiety, ... ORPHA:96369
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Renal cyst, Colon cancer, Papilloma, Neoplasm of the rectum, Uterine leiomy... ORPHA:480536
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomato... ORPHA:79665
Optic Atrophy 9
Pallor OMIM:616289
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Meige Disease
Angiosarcoma ORPHA:90186
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma OMIM:601200
Sarcoma ORPHA:69078
Large Congenital Melanocytic Nevus
Sarcoma, Rhabdomyosarcoma, Cutaneous melanoma, Neoplasm, Neoplasm of the skin ORPHA:626
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Desmoid Tumor
Fibroma, Hydronephrosis, Desmoid tumors, Neoplasm of the skin, Intestinal polyposis ORPHA:873
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Infantile Myofibromatosis
Sarcoma, Fibroma, Gingival fibromatosis, Benign neoplasm of the central nervous system, Neoplasm ... ORPHA:2591
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Retinitis Pigmentosa 70
Pallor OMIM:615922
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Carcinoma, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adeno... OMIM:610755
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Tuberous Sclerosis 2
Renal angiomyolipoma, Cortical tubers, Renal cyst, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmona... OMIM:613254
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Jaundice, Pheochromocytoma OMIM:162240
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Breath-Holding Spells
Pallor OMIM:607578
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Ovarian Fibrothecoma
Ovarian fibroma, Fibrosarcoma, Diffuse leiomyomatosis ORPHA:314478
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Palmar neurofibromas, Paraspinal neurofibromas, Lisch nodules, Meningioma OMIM:162260
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Osteoma, Neoplasm of the ga... ORPHA:733
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Uterine leiomyosarcoma, Uterine leiomyoma, Cu... OMIM:150800
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, I... OMIM:618654
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Optic Atrophy 1
Pallor OMIM:165500
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Hematuria, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Retinitis Pigmentosa 73
Pallor OMIM:616544
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Desmoplastic Small Round Cell Tumor
Sarcoma, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous sys... ORPHA:83469
Retinitis Pigmentosa 27
Pallor OMIM:613750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Tuberous Sclerosis 1
Renal angiomyolipoma, Cortical tubers, Renal cyst, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmona... OMIM:191100
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Aicardi Syndrome
Teratoma, Hepatoblastoma, Carcinoma, Metastatic angiosarcoma, Hemangioma, Lipoma OMIM:304050
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:615373
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Tubulointerstitial fi... OMIM:263200
Leber Congenital Amaurosis 14
Pallor OMIM:613341
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Abnor... ORPHA:44890
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chr... OMIM:613095
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
Peutz-Jeghers Syndrome
Esophageal neoplasm, Gastrointestinal carcinoma, Abnormality of the ureter, Multiple renal cysts,... ORPHA:2869
Familial Multinodular Goiter
Colorectal polyposis, Medulloepithelioma, Sertoli cell neoplasm, Testicular seminoma, Ovarian neo... ORPHA:276399
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Hypoplastic left h... OMIM:604169
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Intrauterine growth retardation, Hydrocephalus ORPHA:858
Neurofibromatosis, Type Iv, Of Riccardi
Atypical neurofibromatosis, Lisch nodules OMIM:162270
Hemoglobin D Disease
Pallor ORPHA:90039
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Yellow Nail Syndrome
Renal neoplasm, Sarcoma, Biliary tract neoplasm, Neoplasm, Neoplasm of the lung, Nephropathy ORPHA:662
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Joubert Syndrome 20
Renal cyst OMIM:614970
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Axial Osteomalacia
Renal cyst OMIM:109130
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma OMIM:112250
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestive heart failur... ORPHA:90308
Danon Disease
Dilated cardiomyopathy, Generalized amyotrophy, Hypertrophic cardiomyopathy, EMG: myopathic abnor... OMIM:300257
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Von Hippel-Lindau Syndrome
Spinal hemangioblastoma, Epididymal cyst, Paraganglioma, Pulmonary capillary hemangiomatosis, Pap... OMIM:193300
Dopa-Responsive Dystonia
Abnormal social behavior, Anxiety, Inability to walk, Panic attack, Emotional lability, Irritabil... ORPHA:255
Myelomeningocele, Multiple renal cysts ORPHA:66637
Ewing sarcoma, Leukemia, Lymphoma, Pinealoma, Osteosarcoma, Retinoblastoma OMIM:180200
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Neoplasm of the gastrointestinal tract, Colon cancer, Neoplasm of the rectu... ORPHA:157794
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation OMIM:618838
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Hb Bart'S Hydrops Fetalis
Pallor, Hydrocephalus ORPHA:163596
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Growth delay, Hepatomegaly, Short stat... OMIM:253250
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Renal dysplasia, Nephropathy, Nephronophthisis OMIM:266920
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular hypertrophy OMIM:619051
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Vesicoureteral reflux, Renal hypoplasia/aplasia ORPHA:1166
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior ORPHA:391417
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Fibroma, Hypercalciuria, Testicul... ORPHA:99880
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Cowden Syndrome
Colorectal polyposis, Melanoma, Adenoma sebaceum, Fibroma, Papilloma, Abnormal penis morphology, ... ORPHA:201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Hydronephrosis, Renal dysplasia, Renal cyst OMIM:615287
Pallor, Purpura OMIM:254450
Parathyroid Carcinoma
Renal cyst, Parathyroid carcinoma, Renal hamartoma, Nephrocalcinosis, Nephrolithiasis, Fibroma, H... ORPHA:143
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis, Facial capillary hemangioma OMIM:300209
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Hydrocephalus OMIM:269920
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Tubular basement membrane disintegration, Renal tubular atrop... OMIM:613159
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Hypertrophic cardiomyopathy, Hepatome... OMIM:212140
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Evans Syndrome
Pallor, Petechiae ORPHA:1959
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Displacement of the ureth... ORPHA:2973
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Ventricular hypertrophy, Ventricular septal ... OMIM:115197
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Tubulointerstitial nephritis, Proteinuria ORPHA:33001
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Retinitis Pigmentosa 51
Pallor OMIM:613464
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Prune Belly Syndrome
Abnormality of the ureter, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary t... ORPHA:2970
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavio... ORPHA:449291
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Hematuria, Proteinuria, Fibroma, Vulvar neoplasm, Uterine neoplasm, Chronic ... ORPHA:1018
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Thrombocytopenia, Intracranial hemorrhage, Prolonged prothrombi... ORPHA:49566
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Pallor, Skin ulcer ORPHA:848
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Splenic rupture, Subcutaneous hemorrh... ORPHA:335
Irida Syndrome
Pallor ORPHA:209981
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Epididymal cyst, Renal cyst, Multiple glomerular cysts, De... OMIM:137920
Pallor, Skin ulcer ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Renal ce... ORPHA:805
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Neuraminidase Deficiency
Skeletal muscle atrophy, Splenomegaly, Hepatomegaly, Short stature, Cardiomyopathy, Cardiomegaly OMIM:256550
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Retinitis Pigmentosa 75
Pallor OMIM:617023
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Primary Myelofibrosis
Pallor, Petechiae, Purpura, Ecchymosis ORPHA:824
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Umbilical hernia, ... OMIM:239850
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Sarcoma, Abnormal penis morphology, Neoplasm of the breast, Testicular neoplasm, Neoplasm of the ... ORPHA:457059
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Chronic leukemia, Hepatomegaly, Sarcoma, Acute leukemia ORPHA:98292
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Werner Syndrome
Gastrointestinal carcinoma, Renal neoplasm, Squamous cell carcinoma, Sarcoma, Melanoma, Breast ca... ORPHA:902
Attrv122I Amyloidosis
Tendon rupture, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Car... ORPHA:85451
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Ventricular septal defect, Patent foramen ovale OMIM:618652
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Intrauterine growth retardation, Ventricular septal defect, Torticollis, Cardio... OMIM:617022
Ewing sarcoma, Leukemia, Rhabdomyosarcoma, Melanoma, Lymphoma, Osteosarcoma, Leiomyosarcoma, Pine... ORPHA:790
Schisis Association
Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Abnormali... ORPHA:1834
Turcot Syndrome With Polyposis
Hepatoblastoma, Colon cancer, Lymphoma, Pilomatrixoma, Adenomatous colonic polyposis, Glioma, Pap... ORPHA:99818
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Bardet-Biedl Syndrome 17
Micropenis, Stage 5 chronic kidney disease, Polyuria, Renal cyst OMIM:615994
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Cold Agglutinin Disease
Pallor ORPHA:56425
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Elliptocytosis 1
Pallor OMIM:611804
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Lhermitte-Duclos Disease
Trichilemmoma, Neoplasm of the thyroid gland, Fibroadenoma of the breast, Ovarian neoplasm ORPHA:65285
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Hydrocephalus, Mitral valve calcification, Cardiomeg... OMIM:231005
Dravet Syndrome
Pallor ORPHA:33069
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Anxiety, Abnormal social behavior ORPHA:64280
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Renal hypoplasia/aplasia, Polycystic kidney dysplasia ORPHA:1988
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation OMIM:609053
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Hepatic failure, Bundle branch block, Subdural hemorrha... ORPHA:99827
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal social behavior ORPHA:530983
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Cervical myelopathy, Hydrocephalus OMIM:207950
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia OMIM:615415
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Cholesteatoma, Polycystic kidney dysplasia, Renal dysplasia, R... OMIM:113650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Nephrocalcinosis, Renal cyst OMIM:615398
Wiskott-Aldrich Syndrome
Microcytic anemia, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the thymus, T... ORPHA:906
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Capillary hemangi... ORPHA:3378
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:266500
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Focal Cortical Dysplasia, Type Ii
Cognitive impairment OMIM:607341
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Campomelia, Cumming Type
Multicystic kidney dysplasia, Myelodysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Joubert Syndrome 14
Renal cyst OMIM:614424
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular se... OMIM:616897
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Hepatomegaly, Myopathy, Cardiomegaly ORPHA:42
American Trypanosomiasis
Pallor ORPHA:3386
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Hemochromatosis, Type 1
Cardiomegaly, Cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:235200
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Hydronephrosis, Hypoplasia of penis, Cavernous hemangioma, Multic... ORPHA:887
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Horseshoe kidney, Hepatic cysts OMIM:612284
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Papillary cystadenoma of the epididymis, Horseshoe kidney, Renal Fanconi syndrome... ORPHA:93111
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Tay-Sachs Disease
Pallor OMIM:272800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Contractures of the large joints, Mitral valve prolap... ORPHA:324410
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Parathormone-independent increased renal tubular calcium reabsorption, Multiple... OMIM:600740
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Pancreatic cysts, Polycystic kidney dysplasia, Renal dysplasia... OMIM:208540
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Epidermal Nevus Syndrome
Lipoma, Spinal cord tumor, Rhabdomyosarcoma, Polycystic kidney dysplasia ORPHA:35125
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Macroglossia, Myopathy, Cardiomyopathy, Cardiomegaly OMIM:261740
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Gait ataxia, Emotional lability, Progressive gait ataxia, Tip-toe gait ORPHA:309256
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Proximal muscle weakness in ... ORPHA:268
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short stature OMIM:613320
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Monosomy 22
Hepatosplenomegaly, Schwannoma, Sarcoma, Micropenis, Meningioma, Gonadal neoplasm ORPHA:96123
Meckel Syndrome, Type 4
Renal cyst, Meningocele OMIM:611134
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Adrenocort... ORPHA:652
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Intrauterine growth retardation, Camptodactyly of toe ORPHA:158687
Von Hippel-Lindau Disease
Epididymal cyst, Paraganglioma, Papillary cystadenoma of the epididymis, Elevated urinary catecho... ORPHA:892
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis ORPHA:2241
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Renal cyst, Ureteral atresia, Hydronephrosis, Renal hypoplasia, Ovaria... OMIM:614527
Neurofibromatosis Type 1
Multiple lipomas, Plexiform neurofibroma, Neoplasm of the gastrointestinal tract, Leukemia, Sarco... ORPHA:636
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Perlman Syndrome
Nephroblastomatosis, Renal hamartoma, Nephroblastoma OMIM:267000
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:157
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Hydronephrosis, Renal hypoplasia, Microphallus, Vesicoureteral reflux OMIM:618454
Glycosuria, Renal cyst, Abnormality of the kidney, Nephropathy, Hepatocellular adenoma ORPHA:552
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hepatocellular Carcinoma
Abnormality of the liver, Portal hypertension, Thrombocytosis, Hypotension, Hepatomegaly, Jaundic... ORPHA:88673
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy, Exercise-induced rhabdomyolysis OMIM:201475
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Dilatation of the renal pelvis, Abnormality of the kidney, Poly... ORPHA:314588
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts OMIM:614866
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Macroglossia, Short stature, Bicuspid aort... ORPHA:363705
Letterer-Siwe Disease
Pallor OMIM:246400
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Nephrotic syndrome, Hypoplasia of penis ORPHA:110
Arima Syndrome
Occipital meningocele, Nephronophthisis, Polycystic kidney dysplasia, Tubulointerstitial fibrosis... OMIM:243910
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Kleefstra Syndrome
Renal cyst, Micropenis, Hydronephrosis, Hypoplasia of penis, Renal insufficiency, Vesicoureteral ... ORPHA:261494
Severe Generalized Junctional Epidermolysis Bullosa
Renal cyst, Squamous cell carcinoma, Urinary retention, Dysuria, Hydronephrosis, Ureterocele, Mul... ORPHA:79404
Renal angiomyolipoma, Renal neoplasm, Abnormal urinary color, Hematuria, Pulmonary lymphangiomyom... ORPHA:538
Fountain Syndrome
Spina bifida occulta, Spina bifida, Erythema ORPHA:3219
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Arthrogryposis m... OMIM:608013
Branchio-Oculo-Facial Syndrome
Hemangioma, Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Pallister-Hall Syndrome
Hypothalamic hamartoma, Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia,... OMIM:146510
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
48,Xxxy Syndrome
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Anxiety, Irritabili... ORPHA:96263
Fumarase Deficiency
Pallor OMIM:606812
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Pancreat... OMIM:267010
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Craniofaciofrontodigital Syndrome
Cardiomegaly, Short stature, Abnormal heart morphology OMIM:114620
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Cantú Syndrome
Cardiomegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Cystic Echinococcosis
Membranous nephropathy, Renal cyst, Hepatic cysts, Ovarian cyst ORPHA:400
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal malrotation, Renal dysplasia, Nephroblastoma OMIM:617107
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter ORPHA:261344
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Polycystic kidney dysplasia, Renal dysplas... OMIM:608836
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Hypotension, Hemolytic anemia, Elevated hepa... ORPHA:244242
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Urethral stenosis ORPHA:261290
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:228308
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Leukocytosis, Ecchymosis, Shock, Hypotension, Thrombocytop... ORPHA:340
Paternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Hepatomegaly, Macroglossia, Ventricular septal defect, Postnatal... ORPHA:96191
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Hepatosplenomegaly, Elbow flexion contracture, Atrial septal defect, Splenomegaly, ... OMIM:602782
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Rhabdomyolysis, Growth delay, Hepatomegaly, Short stature, Ventricular se... OMIM:614921
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria OMIM:212065
Mucolipidosis Ii Alpha/Beta
Severe postnatal growth retardation, Diastasis recti, Hypertrophic cardiomyopathy, Splenomegaly, ... OMIM:252500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Renal dysplasia, Renal in... ORPHA:2237
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Renal cortical cysts, Renal cyst ORPHA:1692
Flexion contracture, Splenomegaly, Hepatomegaly, Macroglossia, Short stature, Cardiomegaly OMIM:230000
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Abnormality of the kidney, Abnormal localization of ki... ORPHA:261318
Glycogen Storage Disease Ii
Firm muscles, Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:232300
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Rare Circulatory System Disease
Pallor ORPHA:98028
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Renal hypoplasia/aplasia, Abnormal penis morphology, Hydronephrosis,... ORPHA:2461
Aregenerative Anemia
Pallor ORPHA:101096
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Mosaic Variegated Aneuploidy Syndrome 1
Renal cyst, Leukemia, Rhabdomyosarcoma, Micropenis, Nephroblastoma, Hypospadias OMIM:257300
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Joubert Syndrome 2
Nephronophthisis, Abnormal renal physiology, Renal cyst OMIM:608091
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Decreased muscle mass ORPHA:465508
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia ORPHA:3015
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, Gl... ORPHA:26791
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Czeizel-Losonci Syndrome
Spina bifida occulta, Spina bifida, Myelomeningocele, Hydrocephalus ORPHA:2437
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Elevated urine mevalonic acid OMIM:260920
Zellweger Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypospadias ORPHA:912
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Renal dysplasia, Multicystic kidney dysplasia OMIM:308205
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia, Renal dysplasia OMIM:613091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pancreatic cysts, Proteinuria, Chronic kidney disease, Nephritis, Renal insufficiency OMIM:208500
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Yellow Fever
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Leukocytosis, Re... ORPHA:99829
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalciuria, Renal dysplasia, Abnormality of the urinary system,... ORPHA:369837
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia OMIM:610199
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Pancreatitis, Prolonged prothrombin time, Thrombocytopenia, Lymphopen... ORPHA:99826
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Lymphangioma, Papilloma, Multiple renal cysts ORPHA:464329
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Intrauterine growth ret... ORPHA:3384
Pallor ORPHA:95512
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Cornelia De Lange Syndrome 1
Ectopic kidney, Renal cyst, Reduced renal corticomedullary differentiation, Proteinuria, Renal hy... OMIM:122470
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Pituitary Apoplexy
Pallor ORPHA:95613
Mckusick-Kaufman Syndrome
Glandular hypospadias, Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ur... ORPHA:2473
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:619259
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior ORPHA:1020
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Sandhoff Disease
Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:268800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Rhizomelia, Atrial septal defect, Congenital diaphragmatic hernia, Short st... OMIM:245600
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Pallor ORPHA:95513
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Cardiomegaly, Left ven... ORPHA:308552
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Micropenis, Hydronephrosis, Pelvic kidney, Hypospadias ORPHA:464311
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Hypoplasia of penis, Renal dysplasia, Multiple renal cysts ORPHA:99776
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Colon cancer, Neoplasm, Multicystic kidney dysplasia, Myelodysplasia, Nephrobla... ORPHA:1052
Pallor ORPHA:2965
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Cystic renal dysplasia, Horseshoe kidney, Pelvic kidney OMIM:156810
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... OMIM:618143
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072