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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
phenotypes
Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Reticulum Cell Sarcoma
Neoplasm, Sarcoma 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
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
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
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Ethanolaminosis
Cardiomegaly OMIM:227150
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Acquired Ichthyosis
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma ORPHA:454
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Renal cyst, Multiple l... OMIM:135150
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary renal cell ca... OMIM:145001
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Meige Disease
Angiosarcoma ORPHA:90186
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Liposarcoma
Sarcoma ORPHA:69078
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Desmoid Tumor
Fibroma, Neoplasm of the skin, Hydronephrosis, Desmoid tumors ORPHA:873
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Breath-Holding Spells
Pallor OMIM:607578
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma ORPHA:314478
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... OMIM:613254
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Optic Atrophy 1
Pallor OMIM:165500
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... OMIM:618654
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Neoplasm of the liver, Sarcoma ORPHA:69077
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cyst, Renal ... OMIM:191100
Aicardi Syndrome
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma OMIM:304050
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... OMIM:614096
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Hydrocephalus, Cardiomegaly ORPHA:858
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly OMIM:300886
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Hemoglobin D Disease
Pallor ORPHA:90039
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Joubert Syndrome 20
Renal cyst OMIM:614970
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Nephropathy, Sarcoma ORPHA:662
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Impaired social interactions, Abnormal emotion ORPHA:168782
Hsd10 Disease
Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior ORPHA:391417
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Axial Osteomalacia
Renal cyst OMIM:109130
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Microcyti... ORPHA:90308
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:444002
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor ORPHA:163596
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Desmoid tumors, Adenocarcinoma of the colon ORPHA:247798
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hepatosplenomegaly OMIM:619750
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Cardiomegaly OMIM:618838
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri... OMIM:253250
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Retinitis Pigmentosa 51
Pallor OMIM:613464
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... ORPHA:99880
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Enlarged polycystic ovaries... ORPHA:2869
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney OMIM:613730
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Myelofibrosis
Pallor, Purpura OMIM:254450
Multiple Endocrine Neoplasia Type 4
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... ORPHA:276152
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... ORPHA:143
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly OMIM:269920
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Irida Syndrome
Pallor ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangi... ORPHA:201
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... ORPHA:49566
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Prote... ORPHA:1018
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Fibrosarcoma, Proteinuria ORPHA:33001
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... ORPHA:335
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma ORPHA:44890
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial... OMIM:212140
Dravet Syndrome
Pallor ORPHA:33069
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine ... OMIM:617713
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Retinitis Pigmentosa 75
Pallor OMIM:617023
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Cold Agglutinin Disease
Pallor ORPHA:56425
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... OMIM:300257
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Elliptocytosis 1
Pallor OMIM:611804
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Agitation, Ataxia, Disinhibition ORPHA:1020
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... ORPHA:99827
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Trisomy 13
Abnormality of the ureter, Multiple renal cysts, Capillary hemangioma, Displacement of the urethr... ORPHA:3378
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Myelodysplasia ORPHA:1318
Tay-Sachs Disease
Pallor OMIM:272800
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Flexion contracture, Intrauterine growth retardation, Hy... OMIM:616897
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis ORPHA:42
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... OMIM:617022
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... ORPHA:157794
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
American Trypanosomiasis
Pallor ORPHA:3386
Wildervanck Syndrome
Meningocele ORPHA:3456
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior ORPHA:309256
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... ORPHA:324410
Refsum Disease, Classic
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:266500
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Epidermal Nevus Syndrome
Lipoma, Polycystic kidney dysplasia, Spinal cord tumor, Rhabdomyosarcoma ORPHA:35125
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:235200
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Monosomy 22
Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Micropenis, Meningioma, Sarcoma ORPHA:96123
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Embryonal rhabdomyosarcoma, Renal cyst, Micropenis, Le... OMIM:257300
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Humero-Radial Synostosis
Meningocele ORPHA:3265
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Senior-Loken Syndrome 8
Pallor OMIM:616307
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly ORPHA:158687
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Letterer-Siwe Disease
Pallor OMIM:246400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short stature, Cardiomegaly OMIM:613320
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Midline facial capilla... OMIM:146510
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Neurofibromatosis Type 1
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... ORPHA:636
Branchio-Oculo-Facial Syndrome
Hemangioma, Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1297
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Lymphangioleiomyomatosis
Renal neoplasm, Abnormal urinary color, Retinal hamartoma, Renal angiomyolipoma, Hematuria, Multi... ORPHA:538
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Focal Cortical Dysplasia, Type Ii
Cognitive impairment OMIM:607341
Fountain Syndrome
Erythema, Spina bifida occulta, Spina bifida ORPHA:3219
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Perlman Syndrome
Nephroblastoma, Nephroblastomatosis, Renal hamartoma OMIM:267000
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... OMIM:208540
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Intrauterine growth... OMIM:608013
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... OMIM:267010
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Cystic Echinococcosis
Ovarian cyst, Hepatic cysts, Renal cyst, Membranous nephropathy ORPHA:400
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Hemorrhagic Fever-Renal Syndrome
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk... ORPHA:340
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Rhabdomyolysis, Dilated car... OMIM:614921
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Joubert Syndrome 14
Renal cyst OMIM:614424
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Sp... OMIM:602782
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Macroglossia... ORPHA:96191
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Aregenerative Anemia
Pallor ORPHA:101096
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Adenohypophysitis
Pallor ORPHA:95512
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Metachromatic Leukodystrophy, Adult Form
Depression, Progressive gait ataxia, Difficulty walking, Emotional lability, Abnormal social beha... ORPHA:309271
Panhypophysitis
Pallor ORPHA:95513
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Sandhoff Disease
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia OMIM:268800
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Hyper-Igd Syndrome
Renal angiomyolipoma, Elevated urine mevalonic acid level, Hepatosplenomegaly OMIM:260920
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Short stature, Cardiomegaly OMIM:208000
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Pituitary Apoplexy
Pallor ORPHA:95613
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ... OMIM:245600
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminot... ORPHA:99829
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:619259
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... ORPHA:308552
Marburg Hemorrhagic Fever
Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos... ORPHA:99826
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614866
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Prolactinoma
Pallor ORPHA:2965
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Fumarase Deficiency
Pallor OMIM:606812
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr... OMIM:618143
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... OMIM:232300
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Papilloma, Enlarged kidney ORPHA:464329
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Hypospadias, Nephroblastoma, Ependymoma, Abnormality of the ureter, Neph... ORPHA:798
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Hamartoma of tongue OMIM:616300
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260