Gene Summary

Name:
polycystin 1, transient receptor potential channel interacting
Synonyms:
polycystin-1,  PC1,  PC-1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Pkd1tm1b(EUCOMM)Hmgu HET Early adult 1.51×10-07
decreased erythrocyte cell number Pkd1tm1b(EUCOMM)Hmgu HET Early adult 2.02×10-05
decreased hematocrit Pkd1tm1b(EUCOMM)Hmgu HET   Early adult 4.90×10-06
decreased circulating alkaline phosphatase level Pkd1tm1b(EUCOMM)Hmgu HET Early adult 2.75×10-08
increased neutrophil cell number Pkd1tm1b(EUCOMM)Hmgu HET Early adult 5.74×10-06
preweaning lethality, complete penetrance Pkd1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

25 Images

Echo

M-Mode Images

48 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Human diseases caused by Pkd1 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 Pkd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900

The table below shows human diseases predicted to be associated to Pkd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers OMIM:600273
Lethal Congenital Contracture Syndrome 6
Polyhydramnios, Decreased fetal movement OMIM:616248
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Pyloric Atresia
Polyhydramnios OMIM:265950
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Inte... OMIM:208540
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia OMIM:211890
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cyst... OMIM:263200
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Congenital Pulmonary Airway Malformation
Polyhydramnios, Premature birth ORPHA:2444
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Abdominal pain, Pol... ORPHA:2924
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Senior-Loken Syndrome 8
Nephronophthisis, Pancreatic cysts, Hepatic cysts OMIM:616307
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Multiple Intestinal Atresia
Polyhydramnios ORPHA:2300
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease, Hepati... OMIM:618061
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Decreased fetal movement OMIM:617194
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Intestinal malrotation, Multicystic kidney dysplasia, Renal dysp... ORPHA:3032
Campomelia, Cumming Type
Multiple renal cysts, Hydrops fetalis, Oligohydramnios, Lymphedema, Pancreatic cysts, Bowing of t... ORPHA:1318
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Chronic kidney disease, Ab... OMIM:602114
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Elevated circulating creatinine concentration, Recurrent urinary tract infections,... OMIM:613095
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hamartoma, Papillary renal cell carcinoma, R... OMIM:145001
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Elevated circulating alkaline phosphatase co... OMIM:174050
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Cholestasis, Stage 5 chronic k... OMIM:267010
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemia, Pancreatic fibrosis, H... OMIM:208500
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Caroli Disease
Conjugated hyperbilirubinemia, Anorexia, Jaundice, Vomiting, Cirrhosis, Intrahepatic cholestasis,... ORPHA:53035
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Lipedema
Edema OMIM:614103
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Glomerulopathy, Hypercalcemia, Renal insufficiency, Hyperparathyroidism, Proteinuria ORPHA:2668
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Squared iliac bones, Hydrops fetalis, Advanced tarsal ossification, Stillbirth, G... OMIM:215045
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism, Osteopenia, Nephrolithiasis OMIM:617343
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Abdominal pain, Abdominal colic, Hyperbil... ORPHA:521219
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Oligohydramnios, Nephropathy, Multicystic kidn... ORPHA:1909
Renal Tubular Dysgenesis
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Joint hyperflexibility, Proximal tubulopat... ORPHA:3033
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Oligohydramnios OMIM:615397
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Nephro... OMIM:618999
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Decreased liver function, Renal cyst OMIM:614870
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Hypersplenism, Abnormality of the kidney, Cirrho... ORPHA:480520
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Polyhydramnios, Hydrops fetalis, Abnormality of the urinary ... ORPHA:2204
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Parathyroid adenoma, Osteopenia, Hypercalciuria, Generalized... ORPHA:99879
Boomerang Dysplasia
Polyhydramnios, Cryptorchidism, Abnormality of tibia morphology, Abnormality of femur morphology,... ORPHA:1263
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, 3-Methylglutaric aciduria, Pancreatic fibrosis, Renal Fanconi syndrome,... OMIM:557000
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Fibrosclerosis, Multifocal
Thyroiditis, Retroperitoneal fibrosis, Sclerosing cholangitis, Abnormality of the liver OMIM:228800
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Chronic diarrhea, ... OMIM:615207
Familial Parathyroid Adenoma
Hypophosphatemia, Parathyroid carcinoma, Renal insufficiency, Parathyroid hyperplasia, Hyperphosp... ORPHA:99877
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f... OMIM:617093
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Abdominal pain, Hepatic cysts, Pancreatic... ORPHA:284
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Wide anterior fontanel, Respiratory distress, Glutaric aciduria, Generalize... OMIM:231680
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Nephronophthisis 2
Nephronophthisis, Oligohydramnios, Enlarged kidney, Respiratory insufficiency, Absence of renal c... OMIM:602088
Diaphanospondylodysostosis
Respiratory insufficiency, Increased nuchal translucency, Unossified sacrum, Short neck, Depresse... OMIM:608022
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney, Polysplenia, Hypoplastic colon, Hypoplasia of the small ... OMIM:200995
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Igg4-Related Aortitis
Abdominal pain, Abnormal aortic arch morphology, Increased inflammatory response, Weight loss, Th... ORPHA:449400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Multiple renal cysts, Dyspnea, Osteolysis, Enlarged kidney, Abnormal fo... ORPHA:464329
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreat... OMIM:610199
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic steatosis, Hepatic failure OMIM:261650
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... OMIM:615382
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Increased total bilirubin, Eleva... ORPHA:2137
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios OMIM:616868
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Hypoplastic ilia, Umbilical hernia, Absent or minima... OMIM:600972
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Dea... OMIM:184260
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Azotemia, Familial
Azotemia OMIM:109160
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Vesicoureteral Reflux 3
Polyhydramnios, Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Hepatic... OMIM:604387
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Bulbous nose, Stillbirth, Oligohydramnios, Renal hypoplasia, ... OMIM:236500
Meckel Syndrome 13
Micrognathia, Flexion contracture, Polycystic kidney dysplasia OMIM:617562
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Absent vertebral body mineralizati... OMIM:200610
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Feeding difficulties, Flexion contracture, Abnormal renal ... OMIM:616733
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Fibromuscular Dysplasia, Arterial
Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Hardikar Syndrome
Elevated hepatic transaminase, Hydroureter, Hyperbilirubinemia, Recurrent urinary tract infection... OMIM:612726
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Sac... OMIM:618845
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Optic nerve glioma, Ren... OMIM:191100
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Polycystic liver disease, Renal cyst OMIM:109130
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Toe syndactyly, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Glycogen Storage Disease Iv
Cirrhosis, Tubulointerstitial fibrosis, Esophageal varix, Hepatic failure, Portal hypertension, H... OMIM:232500
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Rowley-Rosenberg Syndrome
Cor pulmonale, Right ventricular hypertrophy, Aminoaciduria OMIM:268500
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Xerostomia, Keratoconjunctivit... OMIM:260480
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Hepatic cysts, Stage 5 chronic kidney disease OMIM:613819
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... OMIM:607361
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Congenital Pancreatic Cyst
Abdominal pain, Anorexia, Jaundice, Pancreatitis, Vomiting, Abdominal distention ORPHA:313906
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Biliary tract abnormality, ... OMIM:209920
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Abnormal heart morp... OMIM:618250
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Abnormal enzyme/coenzyme ... ORPHA:570422
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Hydrops fetalis, Maternal diabetes, Arrhythmia, Paroxysmal supraventri... ORPHA:45452
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Cryptosporidiosis
Gastrointestinal obstruction, Abdominal pain, Dysphagia, Abdominal colic, Nausea, Abnormal esopha... ORPHA:1549
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Thickened nuchal skin fold, Wide anterior fontanel, Underdeveloped nasal alae, Ol... OMIM:263210
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Diarr... OMIM:602347
Von Hippel-Lindau Syndrome
Multiple renal cysts, Pheochromocytoma, Pancreatic cysts, Renal cell carcinoma, Neoplasm of the p... OMIM:193300
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Aminoaciduria, Cholestasis, Chol... OMIM:124000
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis OMIM:242850
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepat... ORPHA:369
Caroli Disease, Isolated
Esophageal varix, Hepatomegaly, Cholangitis, Vomiting, Portal hypertension, Liver abscess OMIM:600643
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Lipoma, Fibroma, Parathyroid adenoma, Uterine leiomyoma, Hypercalciuria, Nephro... ORPHA:99880
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Cystic renal dysplasia, Enlarged kidney, Oligohydramnios, Cholestasis, Hepatic fibros... OMIM:615415
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Albuminuria, Increased level of gala... OMIM:230400
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve morphology, Abn... ORPHA:1354
Hyperbiliverdinemia
Green urine, Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Meckel Syndrome, Type 6
Hepatic fibrosis, Cystic liver disease, Renal cyst, Cleft palate, Bile duct proliferation OMIM:612284
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Interstitial p... ORPHA:449395
Sialidosis Type 2
Osteoporosis, Hydrops fetalis, Dyspnea, Kyphosis, Pedal edema, Flexion contracture, Umbilical her... ORPHA:87876
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Abdominal pain, Elevated circulating alanine aminotransfera... ORPHA:90003
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis, Hyperparathyroidism OMIM:239199
Parathyroid Carcinoma
Hypophosphatemia, Parathyroid carcinoma, Lipoma, Fibroma, Uterine leiomyoma, Hypercalciuria, Neph... ORPHA:143
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Abdom... ORPHA:275555
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr... ORPHA:93160
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Metaphyseal irregularity, Hepatomegaly, Splenomegaly, Death in childhood, Premat... OMIM:269920
Pearson Syndrome
Hypocalcemia, Proteinuria, Pancreatic fibrosis, Hypomagnesemia, Renal insufficiency, Chronic diar... ORPHA:699
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Alport Syndrome
Hematuria, IgA deposition in the glomerulus, Vomiting, Renal insufficiency, Renal glomerular foam... ORPHA:63
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Bardet-Biedl Syndrome 16
Abnormality of the kidney, Renal agenesis, Respiratory distress, Bronchiolitis, Renal dysplasia, ... OMIM:615993
Epidermolysis Bullosa Simplex With Pyloric Atresia
Polyhydramnios OMIM:612138
Xk Aprosencephaly Syndrome
Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect ORPHA:3469
Aa Amyloidosis
Malnutrition, Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abdominal pain, Nausea, Ch... ORPHA:85445
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Feeding difficulties, Cholestasis, Hepa... OMIM:618528
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality, Slender long bone, Spina bifida occulta... ORPHA:2840
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatic steatosis, Villous atrophy, Con... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Nephrotic syndrome, Ele... OMIM:617713
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Ring Chromosome 8 Syndrome
Polyhydramnios, Short nose, Abnormality of the ureter, Hydronephrosis, Anteverted nares ORPHA:1450
Achondrogenesis Type 1A
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Abnormal enchondral ossi... ORPHA:93299
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology... ORPHA:1937
Achondrogenesis
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Abnormal enchondral ossi... ORPHA:932
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polyhydramnios,... ORPHA:1505
Fetal Akinesia Syndrome, X-Linked
Polyhydramnios, Stillbirth, Fetal akinesia sequence OMIM:300073
Achondrogenesis, Type Ia
Polyhydramnios, Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossific... OMIM:200600
Lethal Recessive Chondrodysplasia
Polyhydramnios, Flared elbow metaphyses, Generalized osteosclerosis, Short long bone, Edema ORPHA:1423
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... OMIM:602200
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, Rocker bottom foot, Cryptorchidism, Arthrogryposis multiplex congenita, Kyphosis,... OMIM:618393
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Respiratory insufficiency, Abnormality of the ureter, Aplasia/Hy... ORPHA:1046
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Cholelithiasis, Decreased liver function, Abnormal circulating porphyrin concentration... ORPHA:79278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Meckel Syndrome
Urethral atresia, Cryptorchidism, Accessory spleen, Pancreatic cysts, Aplasia/Hypoplasia of the t... ORPHA:564
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Neonatal d... OMIM:619003
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Polyhydramnios, Rocker bottom foot, Cryptorchidism, Arthrogryposis multiplex congenita, Bulbous n... OMIM:618766
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Fat malabsorpti... ORPHA:30391
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Gastrointestinal dysmotility, Malnutrition, Abdominal pain, Constipation, Weight l... OMIM:613662
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis, Osteoarthritis OMIM:184300
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Achondrogenesis Type 1B
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Abnormal enchondral ossi... ORPHA:93298
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Episodic abdominal pain, Hepatic cysts, Intrahepatic cholestasis w... ORPHA:100085
Glucose-Galactose Malabsorption
Malnutrition, Hematuria, Hypernatremia, Weight loss, Hyperactive bowel sounds, Abdominal distenti... ORPHA:35710
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema... OMIM:274000
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma... OMIM:610755
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Nausea, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant h... OMIM:618549
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Spina bifida occulta, Abnor... ORPHA:177
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophi... OMIM:615248
Psoriasis 14, Pustular
Pustule, Geographic tongue, Furrowed tongue, Cholangitis, Elevated circulating C-reactive protein... OMIM:614204
Calciphylaxis
Ectopic ossification, Secondary hyperparathyroidism, Hyperphosphatemia, Stage 5 chronic kidney di... ORPHA:280062
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... ORPHA:94088
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Microsporidiosis
Peritonitis, Thyroiditis, Pneumonia, Biliary tract abnormality, Anorexia, Abnormality of the para... ORPHA:2552
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Hypertension OMIM:166990
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Atresia Of Small Intestine
Feeding difficulties, Vomiting, Failure to thrive, Short stature, Intrauterine growth retardation... ORPHA:1201
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Osteomalacia, Hypercalcemia, Primary hyperparat... OMIM:600740
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in infancy, Decreased fetal movement, Neonatal death, Death in childhood, H... OMIM:619334
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Medullary cystic kidney disease 2
Multiple renal cysts, Hyperuricemia, Enuresis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Hyperparathyroidism OMIM:618107
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Renal phosphate wasting, Rickets, Hypophosphatemic ric... OMIM:612089
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Cryptorchidism, Short femur, Maternal diabetes, Long penis, Radioulnar ... ORPHA:1988
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Mosaic Trisomy 1
Hepatic agenesis, Polyhydramnios, Penile hypospadias, Camptodactyly of finger, Renal cortical cys... ORPHA:1692
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Hepatic fibrosis, Microglossia,... OMIM:263520
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Ureteral atresia, Thoracolumbar scoliosis, Hydronephrosis, Split foot, Spina bifida o... OMIM:183802
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Multiple prenatal fractures, Cardiomegaly, Short ... OMIM:616897
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616263
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Nephronophthisis 18
Nephronophthisis, Cholestasis, Renal tubular atrophy, Portal fibrosis, Tubulointerstitial nephrit... OMIM:615862
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Thin skin, Broad long bones, Absent ossification of calvaria, Recur... OMIM:166210
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality ... ORPHA:1388
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker... OMIM:617967
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hydrops fetalis, Fetal akinesia sequence, Bradycardia, Dilated cardiomyopathy, Hy... OMIM:618815
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Polyhydramnios OMIM:241850
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Nemaline Myopathy 8
Polyhydramnios, Decreased fetal movement, Death in infancy, Fetal akinesia sequence OMIM:615348
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Trichodiscoma, Cutaneous leiomyoma, Renal cell carcinoma, Renal... OMIM:135150
Holt-Oram Syndrome
Scoliosis, Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones... ORPHA:392
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Abnormal form of the vertebral bodies, Webbed neck, Abnormality of the elbow, Rec... ORPHA:1486
Hypophosphatasia, Infantile
Polyhydramnios, Platyspondyly, Elevated urine pyrophosphate, Unossified vertebral bodies, Cranios... OMIM:241500
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Premature birth OMIM:618541
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Polyhydramnios, Multiple renal cysts, Abnormal ossification involving t... ORPHA:1190
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Renal insufficiency, Hydrops fetalis, Hepatomegaly, Premature birth, Ascites, Ren... ORPHA:2123
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Left ventricular hypertrophy, Cardiomyopathy OMIM:613873
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Pulmonary hypoplasia, Ureteral agenesis OMIM:274210
Radiculoneuropathy, Fatal Neonatal
Polyhydramnios, Death in childhood OMIM:266250
Orofaciodigital Syndrome I
Ovarian cyst, Tongue nodules, Hepatic cysts, Pancreatic cysts, Hepatic fibrosis, Bifid tongue, Po... OMIM:311200
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubul... OMIM:256100
Arthrogryposis, Distal, Type 2A
Scoliosis, Cryptorchidism, Polyhydramnios, Restricted neck movement due to contractures, Underdev... OMIM:193700
Nephrotic Syndrome, Type 1
Hypoproteinemia, Growth delay, Glomerular sclerosis, Gastroesophageal reflux, Renal tubular atrop... OMIM:256300
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Primary Effusion Lymphoma
Dyspnea, Abdominal pain, Pleural effusion, Pericardial effusion, Abnormality of the peritoneum, A... ORPHA:48686
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Spina bifida, Hydrocephalus, Congenital megaureter, Abnormality of th... ORPHA:2437
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Carcinoid tumor, Chronic kidney disease, Parathyroid adenoma, Renal i... ORPHA:805
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Osteopeni... OMIM:271530
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Cubitus valgus, Epiphyseal stippling, Palpebral edema, Camptodactyly, Stippled ch... OMIM:614866
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Tracheal Agenesis
Polyhydramnios ORPHA:3346
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia, Hepatomegaly, Conge... ORPHA:163596
Cirrhosis, Familial
Micronodular cirrhosis, Increased level of L-fucose in urine, Jaundice, Increased level of propyl... OMIM:215600
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Gastrostomy tube feeding in infancy, Acute hepatic failure, Cholangitis, ... ORPHA:228426
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Elevated circulating creatinine concentration, Hyperur... OMIM:137920
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Ventricular septal defect, Short middle ... OMIM:113000
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:610688
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Scoliosis, Atrial septal defect, Cutaneous syndactyly, Overlapping toe, Vent... OMIM:618316
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Microphallus, Abnormal heart morphology, Trismus, Micrognathia, Micropenis OMIM:218450
Minicore Myopathy With External Ophthalmoplegia
Scoliosis, Polyhydramnios, Hydrops fetalis, Joint laxity, Respiratory insufficiency, Decreased fe... OMIM:255320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Bulbous nose, Macrovesicular hepatic steatosis, Respiratory insufficiency, Cardiom... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatocellular carcinoma, Chronic diarr... ORPHA:65682
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Schneckenbecken Dysplasia
Polyhydramnios, Advanced tarsal ossification, Metaphyseal irregularity, Stillbirth, Ovoid vertebr... OMIM:269250
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Polyhydramnios, Short neck, Abn... OMIM:616809
Seizures-Scoliosis-Macrocephaly Syndrome
Scoliosis, Cryptorchidism, Polyhydramnios, Bulbous nose, Constipation, Nausea, Gastroesophageal r... ORPHA:466926
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios, Death in infancy OMIM:619303
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Increased placental thickness, Lymphedema, Pleural effusion, Pericard... ORPHA:1041
Glycogen Storage Disease Ia
Osteoporosis, Decreased muscle mass, Focal segmental glomerulosclerosis, Enlarged kidney, Hyperur... OMIM:232200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Kyphos... ORPHA:3219
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst, Cleft palate OMIM:603194
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Nephropathy, Deafness, And Hyperparathyroidism
Parathyroid hyperplasia, Renal insufficiency, Hyperparathyroidism, Nephropathy OMIM:256120
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Hyperammonemia, Pyloric stenosis ORPHA:664
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Preeclampsia/Eclampsia 1
Maternal hypertension, Preeclampsia, Hypertension, Eclampsia, Edema OMIM:189800
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Classic Multiminicore Myopathy
Increased muscle lipid content, Microretrognathia, Congenital muscular dystrophy, Mandibular prog... ORPHA:324604
Galactose Epimerase Deficiency
Feeding difficulties, Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly, Nausea an... ORPHA:79238
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Kyphosis, Ovoid vertebral bodies... ORPHA:93315
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Mucopolysaccharidosis Type 7
Scoliosis, Epiphyseal stippling, Hydrops fetalis, Mucopolysacchariduria, Abnormal pleura morpholo... ORPHA:584
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Pierre Robin Syndrome
Cor pulmonale, Micrognathia OMIM:261800
Three M Syndrome 1
Hyperlordosis, Joint hypermobility, Increased vertebral height, Short 5th finger, Hypoplastic pel... OMIM:273750
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Camptodactyly of finger, Osteolysis, Abnormality of epiphysis morphology, Metacar... ORPHA:2774
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Eczematoid dermatitis, Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm OMIM:130090
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Pancreatitis,... OMIM:145980
Rhyns Syndrome
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Osteop... ORPHA:140976
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Mandibular prognathia, Left ventricu... OMIM:619040
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Mpi-Cdg
Malabsorption, Congenital hepatic fibrosis, Hepatic failure ORPHA:79319
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Short stature, Abnormality of the upper uri... ORPHA:1705
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Urinary incontinence, Absence of the sacrum, Spina bifida occulta, My... OMIM:182940
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... OMIM:249670
Spinocerebellar Ataxia-Dysmorphism Syndrome
Cubitus valgus, Short nose, Genu recurvatum, Joint hyperflexibility, Slender long bone, Reduced b... ORPHA:1185
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short nose, Kyphosis, Reduced bone mineral density, Spina bifida occulta, Hypoplasia... ORPHA:2983
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Micrognathia... OMIM:208085
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Cong... ORPHA:2414
Congenital Disorder Of Glycosylation, Type Il
Short nose, Kyphosis, Pericardial effusion, Hepatomegaly, Decreased fetal movement, Edema, Polycy... OMIM:608776
Holt-Oram Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... OMIM:142900
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Feeding difficulties OMIM:246900
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Lethal Kniest-Like Dysplasia
Polyhydramnios, Platyspondyly, Abnormal cartilage matrix, Atrial septal defect, Wide anterior fon... ORPHA:2347
Primary Parathyroid Hyperplasia
Hypophosphatemia, Parathyroid hyperplasia, Osteoporosis, Hypercalciuria, Hypercalcemia, Primary h... ORPHA:99878
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema, Nephrotic syndrome ORPHA:69061
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Ede... OMIM:614131
Thanatophoric Dysplasia
Polyhydramnios, Platyspondyly, Abnormal sacroiliac joint morphology, Hydrocephalus, Joint hyperfl... ORPHA:2655
Hypophosphatemic Rickets
Hyperostosis, Hypercalciuria, Hypercalcemia, Joint stiffness, Elevated circulating parathyroid ho... ORPHA:437
Adams-Oliver Syndrome 4
Short toe, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765