Gene Summary

transcription factor AP4
AP-4,  D930048N17Rik,  bHLHc41,  Tcfap4

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Tfap4tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased circulating calcium level Tfap4tm1.1(KOMP)Vlcg HOM Early adult 1.60×10-09
abnormal sacral vertebrae morphology Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 3.12×10-09
abnormal heart morphology Tfap4tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased circulating creatinine level Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 5.04×10-05
prolonged RR interval Tfap4tm1.1(KOMP)Vlcg HOM Early adult 9.35×10-08
decreased circulating glucose level Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 4.99×10-06
abnormal lumbar vertebrae morphology Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 3.12×10-09
increased red blood cell distribution width Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 8.67×10-05
enlarged heart Tfap4tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased circulating total protein level Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 4.50×10-07
increased monocyte cell number Tfap4tm1.1(KOMP)Vlcg HOM Early adult 9.12×10-05
decreased circulating phosphate level Tfap4tm1.1(KOMP)Vlcg HOM Early adult 5.67×10-05
increased mean corpuscular volume Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 8.24×10-06
decreased heart rate Tfap4tm1.1(KOMP)Vlcg HOM Early adult 7.00×10-07
decreased circulating serum albumin level Tfap4tm1.1(KOMP)Vlcg HOM Early adult 2.94×10-07
decreased total body fat amount Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 7.49×10-05
increased lean body mass Tfap4tm1.1(KOMP)Vlcg HOM Early adult 1.77×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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)
blood 0.0%
bone marrow 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)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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


XRay Images Hind Leg and Hip

7 Images

Adult LacZ

LacZ Images Section

20 Images


XRay Images Whole Body Dorso Ventral

11 Images


XRay Images Forepaw

7 Images


XRay Images Skull Lateral Orientation

7 Images


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Skull Dorso Ventral Orientation

7 Images

Human diseases caused by Tfap4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tfap4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Lipodystrophy, Hepatomegaly, Hypertriglyc... OMIM:612526
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Overweight, Pericardial effusion, Small for gestational age, Patent foramen ovale, ... ORPHA:26793
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Microcytic anemia, Incre... ORPHA:398063
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hypogonadism, Hepatomegal... OMIM:615234
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Paten... OMIM:601005
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Neutropenia, Shock OMIM:600351
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Spinal rigidity, Flexion contra... OMIM:615883
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Decreased plasma free carnitine, Hypoglycemia, Hepatomegaly, Hyperalanin... OMIM:619048
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hypoalbuminemia, Hyperlipidemia OMIM:603278
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Thrombocytopenia, Hepatomegaly, Hypoalb... OMIM:608104
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Melen... ORPHA:98870
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Obesity ORPHA:88643
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Failure to thrive in infancy, Reduced systolic function, Hepatomegaly, Hypoalb... OMIM:618805
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Flexion contracture, Back pain, Spinal rigidity, Elevated circulating creatine kinase... OMIM:300696
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Diffuse alveolar hemorrhage, Pancytopenia, Thromboc... OMIM:616050
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Johanson-Blizzard Syndrome
Hypoproteinemia, Abnormal vagina morphology, Abnormality of the female genitalia, Dextrocardia, A... ORPHA:2315
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Failure to thrive, Hypogonadism ORPHA:163693
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Lipodystrophy,... OMIM:616000
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Pericardial effusion, Weight ... ORPHA:90362
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Hepatomeg... ORPHA:99828
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctiva... ORPHA:340
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, ... OMIM:209950
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Hypocalcemia, Failure to thrive, Splenomegaly ORPHA:172
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Cryptorchidism, Abnormality of the uterus, Ventricular septal defe... ORPHA:1655
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:324575
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglyce... OMIM:212138
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... ORPHA:90044
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 7
Scoliosis, Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Gastrointestinal hemorrhage, Weight loss, Hypoalb... ORPHA:2494
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Hepatomegaly, Spleno... ORPHA:507
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Budd-Chiari syndrome, Hepatomegaly, Pulm... OMIM:226300
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiomeg... ORPHA:75565
Methylcobalamin Deficiency Type Cble
Scoliosis, Neutropenia, Hypertension, Pancytopenia, Hypomethioninemia, Failure to thrive, Increas... ORPHA:2169
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Trypsinogen Deficiency
Hypoproteinemia, Failure to thrive OMIM:614044
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Inguinal ... OMIM:235255
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Lipodystrophy, Congenital Generalized, Type 4
Scoliosis, Hyperlordosis, Hyperinsulinemia, Insulin resistance, Flexion contracture, Atrial fibri... OMIM:613327
Rajab Interstitial Lung Disease With Brain Calcifications 2
Scoliosis, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Al Amyloidosis
Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Abnormal hea... ORPHA:85443
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Refractory Anemia With Excess Blasts
Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate produc... ORPHA:86839
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia... ORPHA:391673
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Abnormality of the vertebral column OMIM:191420
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Scarring, Hyperpepsinogenemia I, Atrial a... OMIM:615745
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi... OMIM:616201
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia, Hypoglycemia OMIM:617156
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:276580
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Hypertension, Po... ORPHA:275555
Congenital Enterovirus Infection
Hypotension, Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Thr... ORPHA:292
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Syn... ORPHA:276556
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Leukocyt... ORPHA:31824
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Reticulocytosis, Thrombocytopenia, Myocardial infa... ORPHA:54057
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Splenomegaly, Anemia, Anemia ... OMIM:615631
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Neutropenia... OMIM:612541
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypoalbuminemia, Hypertension ORPHA:54370
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Flexion contracture, Dilated cardiomyopathy, Hypospadias, Bradycardia... OMIM:618815
Oculoskeletodental Syndrome
Scoliosis, Hypocalcemia, Cryptorchidism, Thoracic kyphosis, Hepatomegaly, Hypercalcemia, Small fo... OMIM:618440
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Pr... ORPHA:36913
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Eisenmenger Syndrome
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... ORPHA:97214
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia ORPHA:90363
Eosinophilic Gastroenteritis
Hematochezia, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Elevated circulating C-reactive... ORPHA:2070
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Leukopenia, Anemia, Vertebral compression fracture, Thrombocytopenia, ... ORPHA:811
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Scoliosis, Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Card... OMIM:255100
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Ne... ORPHA:1667
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Arrhythmia, Abnormality of iron homeostasis, Persistence of hemogl... ORPHA:231226
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Decreased transferrin saturation, Reti... ORPHA:300298
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Nephrotic Syndrome, Type 14
Cryptorchidism, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism, M... OMIM:617575
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Umbilical hernia, Aminoacid... OMIM:300555
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Failure to thri... OMIM:259700
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypoalbuminemia, Hypertension ORPHA:84090
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Short neck, Hyperpho... ORPHA:94089
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Hypotension, Elevated circulating creatinine concentration, Increased c... ORPHA:36234
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Constrictive pericarditis, Leukocytosis, Abnormal pericardium morphology, Weight lo... ORPHA:67
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thoracic kyphosis, Tricuspid regurgitation, Hypoalbuminemia, Leukopenia, Anemia, Patent foramen o... ORPHA:505248
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Aminoaciduria, Hypertension, Glycosuria OMIM:618913
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Cystinuria, Failure to thrive OMIM:606407
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hyperbilirubinemia, Hypoglycemia, Thrombocytopenia, Hepatomegaly, Hypo... OMIM:251880
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Hypertrig... ORPHA:247585
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Thrombocytopenia, Hepatomegaly, Hypercalcemia, Anemia ORPHA:2123
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Dou... ORPHA:3426
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Thrombocytopenia, Normochromic anemia, Small for... OMIM:618775
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Increased propor... ORPHA:167
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Arrhythmia, Azoospermia, Glucose intolerance, Hepat... OMIM:235200
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Hypocalcemia, Hypophosphatemia, Abnormal form of the vertebral bodies, Abnormal adipos... ORPHA:93160
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Flexion contracture, Neutropenia, Thrombocytopenia, Hepato... OMIM:617303
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ventricular tachycardia, Hepatomegaly, Cardiome... OMIM:600649
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal ... ORPHA:103910
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Eleva... ORPHA:439232
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Arrhythmia, Hypoketotic hypoglycemia, Tricuspid regurgitation, Failure to thrive in... ORPHA:746
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Kyphosis, Abnormal subcutaneous fat tissue distri... OMIM:212065
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity OMIM:603233
X-Linked Agammaglobulinemia
Hypocalcemia, Cellulitis, Neutropenia, Weight loss, Thrombocytopenia, Recurrent cutaneous abscess... ORPHA:47
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia, Flexion contracture OMIM:608093
Oculocerebrodental Syndrome
Scoliosis, Hyperlordosis, Hypocalcemia, Enamel hypoplasia, Thoracic kyphosis, Hypercalcemia ORPHA:557003
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Cryptorchidism, Scrotal hypoplasia, Small for gestational age, Failure to thrive, P... OMIM:607143
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Thrombocytosis, Hypotension, Hypernatremia, Leukocytosis, Hyponatremia,... ORPHA:94093
Chylomicron Retention Disease
Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemi... OMIM:246700
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Failure to thrive OMIM:602579
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Endocardial fibroelastosis, Impaired gluconeogenesis,... OMIM:212140
Linear Verrucous Nevus Syndrome
Scoliosis, Hypophosphatemia ORPHA:2611
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology, Arrhythmia ORPHA:2238
16Q24.3 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Ventricular septal defect, Kyphosis, Thrombocytopenia, Dilated cardiom... ORPHA:261250
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Aminoaciduria, Hepatomegaly, Calcinosis, Hypercalcemia, Anemia, Splenomegaly, F... OMIM:239200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Hepatomegaly, Congestive heart failure, Hypoalbuminemia, Failure to thrive, ... ORPHA:367
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hypokalemia, Failure to thrive, Decreased mean corpuscular vol... OMIM:611590
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Ring Chromosome 10 Syndrome
Hypocalcemia, Short neck, Cachexia ORPHA:1438
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia, Umbilical hernia ORPHA:95717
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis, Failure to thrive OMIM:610680
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hematochezia, Hypokalemia, Cachexia, Anemia, Hypomagnesemia OMIM:175500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Hypokalemia, Failure to th... OMIM:227810
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Generalized aminoaciduria, Postprandial hyperglycemia, Im... ORPHA:2088
Diamond-Blackfan Anemia 7
Scoliosis, Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean ... OMIM:612562
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Pericardial effusion, Abnormal T-wave, Type II diabetes mellitus, ... ORPHA:358
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Rhabdoid Tumor
Internal hemorrhage, Hypertension, Weight loss, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Glycosuria OMIM:613388
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Neutropenia OMIM:617248
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Cardiomegaly OMIM:227150
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Scoliosis, Neonatal hypoglycemia, Intraventricular hemorrhage, Aminoaciduria, Hypoglycemia, Small... OMIM:619055
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Macroorchidism, Congestive heart failure, Cardiomegaly, Kyphoscoliosis, Contractu... OMIM:300886
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Decreased serum iron, Anisocytosis, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Chondrocalcinosis ORPHA:99879
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine k... OMIM:255120
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Beta-Thalassemia Major
Hypochromic microcytic anemia, Arrhythmia, Abnormality of iron homeostasis, Persistence of hemogl... ORPHA:231214
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Majeed Syndrome
Microcytic anemia, Flexion contracture, Erythroid hyperplasia, Failure to thrive, Anemia of inade... OMIM:609628
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Hypertension, Small for gesta... OMIM:616733
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Hypercalcemia, Anem... ORPHA:29073
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia, Ventricular septal defect OMIM:616730
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Relapsing Fever
Increased total bilirubin, Hypotension, Leukocytosis, Elevated circulating creatinine concentrati... ORPHA:91547
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Glycosuria OMIM:308990
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Hypogonadism, Diabetes mellitus, Bradycardia, Premature ovarian insufficiency, Cardio... OMIM:609286
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Cartilage-Hair Hypoplasia
Scoliosis, Hyperlordosis, Hypocalcemia, Biconvex vertebral bodies, Abnormal form of the vertebral... ORPHA:175
Propionic Acidemia
Arrhythmia, Hypoglycemia, Hepatomegaly, Hyperammonemia, Cardiomyopathy ORPHA:35
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Hypophosphatemia, Aminoaciduria, Hypokalemia, Type I diabetes mellitus, Failure to thrive, Portal... ORPHA:213
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly, Hypoglycemia OMIM:618838
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Glutamine Deficiency, Congenital
Hypoglutaminemia, Camptodactyly, Flexion contracture, Hyperammonemia, Bradycardia OMIM:610015
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL chol... ORPHA:14
Hepatocellular Carcinoma
Thrombocytosis, Internal hemorrhage, Hypotension, Polycythemia, Hyperbilirubinemia, Hyponatremia,... ORPHA:88673
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Hypocalcemia OMIM:618476
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Intestinal bleeding, Atrial septal defect, Gastrointestinal hemorrhage, Hema... ORPHA:79076
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic ane... ORPHA:486
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceride... OMIM:232700
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria OMIM:134600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomega... OMIM:618278
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Hypophosphatasia, Infantile
Platyspondyly, Elevated plasma pyrophosphate, Intracranial hemorrhage, Hypercalcemia, Anemia, Fai... OMIM:241500
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Hypocalcemia, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia, Hypokale... ORPHA:173
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Sanjad-Sakati Syndrome
Hypocalcemia, Cryptorchidism, Abnormal dental enamel morphology, Spinal canal stenosis, Hypoplasi... ORPHA:2323
Sepsis In Premature Infants
Hypotension, Leukocytosis, Neutropenia, Decreased body weight, Thrombocytopenia, Hepatomegaly, Ta... ORPHA:90051
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Carnosinuria, Cardiomyopathy OMIM:309930
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Impaired glucose tolerance, Joint contracture of the 5th finger, Atrioventri... OMIM:614407
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Hypocalcemia, Reduced proportion of CD4-negative, CD8-negative, alpha-bet... ORPHA:37042
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortene... OMIM:261740
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Cryptorchidism, Micropenis, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Cryptorchidism, Hematochezia, Pericardial effusion, Hyponatremia, Hypertriglyceride... OMIM:618183
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium mo... ORPHA:563
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Umbilical hernia ORPHA:95716
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Arrhythmia, Azoospermia, Hepatomegaly, Congestive h... OMIM:602390
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Palpitations, Reduced ejection fraction, Arrh... ORPHA:217607
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Cardiac conduction abnormality, Abnormal heart morphology, Reticu... ORPHA:699
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypoglycemia, Hyperalaninemia, Small for gestational age, Failure to thrive, Hypertro... OMIM:614702
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Atypical scarring of skin, Flexion contracture, Decreased body weight... ORPHA:89842
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets, Spinal canal stenosis, Enamel hypomineralization OMIM:307800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Congestive heart failure, Ca... OMIM:269920
Rajab Interstitial Lung Disease With Brain Calcifications 1
Scoliosis, Hypocalcemia, Slender build, Small scrotum, Pancytopenia, Inguinal hernia, Hypoalbumin... OMIM:613658
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Thyrotoxic Periodic Paralysis
Palpitations, Postprandial hyperglycemia, Mildly elevated creatine kinase, Transient hypophosphat... ORPHA:79102
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Aortic regurgitation, Ventricular septal defect,... OMIM:222470
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Abnormal heart morphology, Septate vagina, Vaginal atresia, Uterus didelphys, Diabe... ORPHA:2237
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia OMIM:174900
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Hyperten... OMIM:618886
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Calcinosis,... ORPHA:79444
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Bradycardia OMIM:614498
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Decreased plasma total carnitine, Hypoglycemia, Hepatomegaly, Distal arthrogryposis, ... ORPHA:42
Orotic Aciduria
Hypochromia, Atrial septal defect, Ventricular septal defect, Folate-unresponsive megaloblastic a... OMIM:258900
Avian Influenza
Lymphopenia, Thrombocytopenia, Congestive heart failure, Hypoalbuminemia, Leukopenia, Elevated ci... ORPHA:454836
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hepatomegaly, Myoc... ORPHA:330001
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormal vertebral morphology ORPHA:352540
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Arrhythmia, Abnormality of iron homeostasis, Elevat... ORPHA:465508
Danon Disease
Arrhythmia, Dilated cardiomyopathy, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-Whi... OMIM:300257
Scoliosis, Hypophosphatemia, Severe platyspondyly, Short neck, Hypoplastic vertebral bodies OMIM:258480
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Enamel hypoplasia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic s... OMIM:264700
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Insulin resistance, Hyperinsulinemia, Ele... ORPHA:230
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine, Elevated systolic bl... OMIM:300539
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypovolemia, Hypouricemia, Elevated circulating creatinine concen... ORPHA:411634
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Enamel hypoplasia, Thrombocytosis, Weight loss, Type I diab... OMIM:212750
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Camptodactyly, Perica... OMIM:235510
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypocalcemic tetany, Hypogonadism, Short neck, Hyperphosphatemia, Obesity OMIM:612462
Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia ORPHA:3299
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Intracranial hemor... ORPHA:163979
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Cryptorchidism, Ambiguous genitalia, male, Testicular dy... OMIM:608800
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Small for gestational age, Anemia, Hyperphosphatemia OMIM:127000
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enamel hypoplasia, Generalized aminoaciduria, Failure to thrive, ... ORPHA:289157
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Nonketotic hypoglycemia, Sudden cardiac de... OMIM:201475
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Pulmonary e... ORPHA:567548
Hypercalcemia, Anemia, Failure to thrive in infancy ORPHA:436
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Failure to thrive, Enamel hypoplasia, Hypocalcemic seizures OMIM:277440
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemi... ORPHA:199299
Fibrous Dysplasia Of Bone
Scoliosis, Hypophosphatemia, Ovarian cyst, Precocious puberty in females, Abnormal lumbar spine m... ORPHA:249
Hypercalcemia ORPHA:55881
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Supr... ORPHA:423
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Hypocalcemia, Cryptorchidism, Narrow vertebral interpedicular distance, Spinal canal s... ORPHA:280651
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Parathyroid Carcinoma
Hypophosphatemia, Chondrocalcinosis, Shortened QT interval, Uterine leiomyoma, Weight loss, Hyper... ORPHA:143
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypercalcemia OMIM:600740
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Hypotension, Congestive heart failure, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Congestive heart failure, Cardiomegaly OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hypocalcemic tetany, Hypogonadism, Short neck, Hyperphosphatemia, Obesity OMIM:103580
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Hepatomegaly, Reactive hypoglycemia ORPHA:469
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Thr... ORPHA:466650
Mccune-Albright Syndrome
Scoliosis, Hypophosphatemia, Ovarian cyst, Hyperplasia of the Leydig cells, Abnormal testis morph... ORPHA:562
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Hypertensio... ORPHA:79443
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Failure to thrive OMIM:600081
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Fructose Intolerance, Hereditary
Hypophosphatemia, Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperbilirubinemia, Bicar... OMIM:229600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets, Failure to thrive OMIM:241530
Gracile Bone Dysplasia
Hypocalcemia, Asplenia, Failure to thrive, Hypoplastic spleen, Micropenis OMIM:602361
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Atrial septal defect, Elevated circulating sebacic acid concentration, Increased ... OMIM:615160
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... ORPHA:31826
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine ORPHA:289601
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Chondrocalcinosis, Shortened QT interval, Uterine leiomyoma, Hypercalcemia, Tes... ORPHA:99880
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171420
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Familial Parathyroid Adenoma
Hypophosphatemia, Mitral valve calcification, Hypercalcemia, Left ventricular hypertrophy, Aortic... ORPHA:99877
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Abnormal EKG, Arrhythmia, Dilated cardiomyopathy, Flexion contracture, ... OMIM:310200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hip contracture, Hypercalcemia, Knee flexion contracture OMIM:156400
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... ORPHA:45452
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Bradycardia, Hepatomegaly OMIM:617397
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Atrioventricular canal defect, Bra... ORPHA:40366
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the ski... ORPHA:98292
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Elevated circulating creatine kinase con... OMIM:616812
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Pericardial effusion, Hypocalcemic tetany, Sudden cardiac d... ORPHA:73224
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Enla... ORPHA:251004
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Combined Oxidative Phosphorylation Defect Type 39
Scoliosis, Cryptorchidism, Congenital foot contractures, Neonatal hypoglycemia, Bradycardia ORPHA:565624
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concent... OMIM:232400
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Hydroxyprolinuria, Kyphosis, Hyperuricemia, Hyperphosphatemia OMIM:239000
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Generalized aminoaciduria, Hypophosph... ORPHA:3337
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Reduced ejection fraction, Spinal rigidity, Right ventricular hypertrophy, Cardiom... ORPHA:268
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Myotonic Dystrophy 2
Palpitations, Oligospermia, Tachycardia, Insulin insensitivity, Elevated circulating creatine kin... OMIM:602668
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulmo... OMIM:619064
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Hypercalcemia, Infantile, 1
Weight loss, Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Infantile hypercalcemia OMIM:143880
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy, Hypertension ORPHA:329918
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hyponatremia, Hypoglycemia, Normochromic anemia, Bradycard... ORPHA:91355
Primary Parathyroid Hyperplasia
Hypophosphatemia, Shortened QT interval, Hypercalcemia, Chondrocalcinosis ORPHA:99878
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Sp... ORPHA:90037
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hypertensive crisis, Hyponatremia, Hypertension, Th... ORPHA:544482
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Scoliosis, Abnormal testis morphology, Abnormal penis morphology, Polycystic ovaries, Obesity, Te... ORPHA:457059
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Elevated circulating creatinine... OMIM:602088
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Hypoglycemia, Hyperalaninemia, Elevated circulat... OMIM:619386
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Increased ... ORPHA:79277
Long Qt Syndrome 14