Gene Summary

Name:
sorting nexin 5
Synonyms:
1810032P22Rik,  D2Ertd52e,  0910001N05Rik

IMPC Data Collections

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 iron level Snx5Snx5 HOM Early adult 5.54×10-07
preweaning lethality, complete penetrance Snx5Snx5 HOM   Early adult 0.00
decreased hematocrit Snx5Snx5 HOM   Early adult 4.46×10-05
decreased mean corpuscular volume Snx5Snx5 HOM Early adult 5.03×10-06
decreased circulating potassium level Snx5tm1a(KOMP)Wtsi HOM Early adult 6.33×10-05
decreased circulating glucose level Snx5tm1a(KOMP)Wtsi HOM Early adult 2.70×10-06
increased hemoglobin content Snx5Snx5 HOM Early adult 2.43×10-06
abnormal vertebrae morphology Snx5Snx5 HOM Early adult 7.31×10-08
decreased circulating glucose level Snx5Snx5 HOM Early adult 7.84×10-05
decreased blood urea nitrogen level Snx5Snx5 HOM   Early adult 6.58×10-05

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 N/A heterozygote 100% (1 of 1)
Adrenal gland N/A homozygote 100% (1 of 1)
Aorta N/A heterozygote Not available
Aorta N/A homozygote Not available
Blood vessel N/A heterozygote 100% (1 of 1)
Blood vessel N/A homozygote 100% (1 of 1)
Bone N/A heterozygote Ambiguous
Bone N/A homozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Brainstem N/A heterozygote Not available
Brainstem N/A homozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A homozygote Ambiguous
Cartilage tissue N/A heterozygote 100% (1 of 1)
Cartilage tissue N/A homozygote 100% (1 of 1)
Cerebellum N/A heterozygote Not available
Cerebellum N/A homozygote Not available
Cerebral cortex N/A heterozygote Not available
Cerebral cortex N/A homozygote Not available
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 100% (1 of 1)
Gall bladder N/A heterozygote Not available
Gall bladder N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote 100% (1 of 1)
Hippocampus N/A heterozygote Not available
Hippocampus N/A homozygote Not available
Hypothalamus N/A heterozygote Not available
Hypothalamus N/A homozygote Not available
Kidney N/A heterozygote 100% (1 of 1)
Kidney N/A homozygote 100% (1 of 1)
Large intestine N/A heterozygote 100% (1 of 1)
Large intestine N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 100% (1 of 1)
Lower urinary tract N/A heterozygote 100% (1 of 1)
Lower urinary tract N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 100% (1 of 1)
Lymph node N/A heterozygote 100% (1 of 1)
Lymph node N/A homozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A homozygote 100% (1 of 1)
Esophagus N/A heterozygote 100% (1 of 1)
Esophagus N/A homozygote 100% (1 of 1)
Olfactory lobe N/A heterozygote Not available
Olfactory lobe N/A homozygote Not available
Ovary N/A heterozygote Not available
Ovary N/A homozygote 100% (1 of 1)
Oviduct N/A heterozygote Not available
Oviduct N/A homozygote 100% (1 of 1)
Pancreas N/A heterozygote 100% (1 of 1)
Pancreas N/A homozygote 100% (1 of 1)
Parathyroid gland N/A heterozygote Not available
Parathyroid gland N/A homozygote 100% (1 of 1)
Peripheral nervous system N/A heterozygote 100% (1 of 1)
Peripheral nervous system N/A homozygote 100% (1 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A homozygote 100% (1 of 1)
Pituitary gland N/A heterozygote Not available
Pituitary gland N/A homozygote 100% (1 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A homozygote Not available
Skeletal muscle tissue N/A heterozygote 100% (1 of 1)
Skeletal muscle tissue N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote 100% (1 of 1)
Small intestine N/A heterozygote 100% (1 of 1)
Small intestine N/A homozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote 100% (1 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Spleen N/A homozygote 100% (1 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Stomach N/A homozygote 100% (1 of 1)
Striatum N/A heterozygote Not available
Striatum N/A homozygote Not available
Testis N/A heterozygote 100% (1 of 1)
Testis N/A homozygote Not available
Thymus N/A heterozygote 100% (1 of 1)
Thymus N/A homozygote 100% (1 of 1)
Thyroid gland N/A heterozygote Not available
Thyroid gland N/A homozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Trachea N/A homozygote 100% (1 of 1)
Uterus N/A heterozygote Not available
Uterus N/A homozygote 100% (1 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A homozygote 0.0% (0 of 1)
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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

Legacy Phenotype Associated Images

View all 79 images

Human diseases caused by Snx5 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 Snx5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Short neck, Thrombocytopenia, Anemia,... ORPHA:3319
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Death in childhood, Hyperpigmentation of the skin, Acrocy... OMIM:302000
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration, Small for... ORPHA:70589
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Neonatal respiratory distress, Aspiration pneumonia, Intrauterine growth re... OMIM:619057
Immunodeficiency 95
Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in... OMIM:619773
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Failure to thrive, Cyanosis, Type II pneumocyte hyp... OMIM:263000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Meconium Aspiration Syndrome
Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Intrauteri... ORPHA:70588
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia, Respir... ORPHA:70587
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Short stature, Partial albinism ORPHA:90023
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Immunodeficiency 54
Failure to thrive, Respiratory insufficiency, Postnatal growth retardation, Intrauterine growth r... OMIM:609981
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Failure to thrive, Death in childhood, Respiratory insufficiency OMIM:616081
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Parenchymal consolidation, Weight... ORPHA:2902
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti... ORPHA:723
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacif... OMIM:610978
Waardenburg Syndrome Type 3
White hair, Acrocyanosis, Thick eyebrow, Atelectasis ORPHA:896
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Emphysema, Abnormal fingernail morphology, Weight loss, Bronchiectasis ORPHA:1164
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... OMIM:620321
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... ORPHA:3348
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Failure to thrive, Intrauter... ORPHA:2257
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Nasal polyposis, Recurrent sinusitis, Chronic... OMIM:608647
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Death in childhood, Death in infancy, Neonatal death, Pulmonary hypoplasia OMIM:614096
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Failure to thrive, Respiratory insufficiency, Intrauterine growth ... OMIM:245400
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Failure to thrive in infancy, Respiratory insuffi... ORPHA:254875
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Atelectasis, Neonatal death OMIM:300219
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia OMIM:245650
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Ground-glass... ORPHA:99931
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the ... ORPHA:1867
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Weight loss, Hypox... ORPHA:1302
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Abnormality of the pulmona... ORPHA:895
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... OMIM:607624
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Recurrent... ORPHA:33445
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respirator... ORPHA:244
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration ORPHA:446
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure OMIM:620326
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypoxemia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumot... ORPHA:36238
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Respiratory failure OMIM:600561
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... OMIM:618042
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... ORPHA:178320
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Hepatic Veno-Occlusive Disease
Increased body weight, Jaundice, Respiratory failure ORPHA:890
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Short stature, Respiratory insufficiency ORPHA:436
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Respirato... ORPHA:70578
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Abnormality of the nail, Respiratory failure, Respiratory insufficiency OMIM:313420
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Ataxia-Telangiectasia
Failure to thrive, Premature graying of hair, Telangiectasia of the skin, Delayed puberty, Multip... ORPHA:100
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Anemia, Elevated transferrin s... OMIM:606069
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:614399
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Neuralgic Amyotrophy
Short stature, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i... OMIM:612387
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Weight loss, Hypoxemia ORPHA:747
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Ground-glass opac... ORPHA:60025
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Atelectasis, Generalized abnormality of skin, Abnormal hair morphology, Dystrophic fingernails, R... ORPHA:2314
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Pulmonary fibrosis, Honeycomb lung, Premature graying of hair OMIM:616371
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity ORPHA:330012
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration, Abnormality of retinal pigmentation ORPHA:122
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... OMIM:620121
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Emphysema, Abnormal hair morphology, Tric... ORPHA:634
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure ORPHA:1832
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Avian Influenza
Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Hyp... ORPHA:454836
Perching Syndrome
Cyanosis OMIM:617055
Hemochromatosis, Type 2B
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:613313
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis, Growth delay ORPHA:2414
Liddle Syndrome
Hypokalemia ORPHA:526
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive ORPHA:91130
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress ORPHA:2004
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... OMIM:244400
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Ground-glass opacific... OMIM:620233
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Scedosporiosis
Pneumonia, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis, Pleuritis, Respiratory failu... ORPHA:449280
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Leigh Syndrome, Nuclear
Pigmentary retinopathy, Failure to thrive, Hypertrichosis, Respiratory insufficiency, Respiratory... OMIM:256000
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Farber Disease
Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Respiratory insuffi... ORPHA:333
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Respiratory failure, Failure to thrive ORPHA:70472
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Intrauterine growth retardation, Cyanosis, Hypoxemia, Respiratory fail... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Aceruloplasminemia
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... OMIM:604290
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency ORPHA:370968
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Weight loss, Respiratory failure, Bruising susceptibility ORPHA:3226
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Tetrasomy 5P
Failure to thrive, Postnatal growth retardation, Cyanosis, Recurrent respiratory infections, Depi... ORPHA:3309
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... OMIM:256710
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Cachexia, Respiratory failure, Neonatal death OMIM:618186
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure OMIM:605711
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respirat... OMIM:618278
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Chronic Pneumonitis Of Infancy
Failure to thrive, Ground-glass opacification, Cyanosis, Diffuse reticular or finely nodular infi... ORPHA:91359
Lymphatic Malformation 12
Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren... OMIM:620014
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne... ORPHA:95430
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Short stature, Jaundice, Growth delay, Respiratory failure OMIM:250940
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Short-Rib Thoracic Dysplasia 12
Atelectasis, Respiratory insufficiency, Intrauterine growth retardation, Neonatal death, Hypoplas... OMIM:269860
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... OMIM:231100
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Delaye... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Delaye... ORPHA:71526
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel... ORPHA:420741
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis ORPHA:60041
Hereditary Methemoglobinemia
Cyanosis, Abnormality of the nail, Small for gestational age ORPHA:621
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Respiratory insufficiency, Decreased body weight, Intercostal muscle weakness, Recur... ORPHA:258
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Hyperekplexia 4
Respiratory failure OMIM:618011
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Hypog... OMIM:617872
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Small for gestational age, Pulmona... OMIM:616733
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, I... OMIM:614370
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Nail dystrophy, Premature graying of hair OMIM:620365
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Bloom Syndrome
Pneumonia, Hypopigmentation of the skin, Paronychia, Bronchitis, Intrauterine growth retardation,... ORPHA:125
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Failure to thrive, Intrauterine growth retardation, Ventilator depende... OMIM:604320
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Small for gestational age, Sparse medial eyebrow, Intrauterine growth reta... OMIM:618804
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Reduced circulating cortisol-binding globulin concentration OMIM:611489
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... ORPHA:79230
Meier-Gorlin Syndrome 4
Failure to thrive, Emphysema, Breast hypoplasia, Intrauterine growth retardation, Birth length le... OMIM:613804
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Ungual fibroma, Pulmonary lymphangiomyomatosis, Pulmonary in... ORPHA:538
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Small for gestational age OMIM:312170
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Hypopigmented skin patches, Respiratory insufficiency, Abnormal pleura morpholog... ORPHA:183
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia OMIM:617895
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... OMIM:227810
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Respiratory insufficiency, Respiratory tract infection, Respiratory insufficie... ORPHA:308552
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Severe postnatal growth retardation, Recurrent respiratory infections, Respiratory fai... ORPHA:98905
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Failure to thrive, Death in infancy OMIM:602473
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:2759
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Short stature, Hypopigmentation of ... ORPHA:177910
Breath-Holding Spells
Cyanosis OMIM:607578
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Atelectasis, Respiratory insufficiency, Long eyelashes, Decreased body wei... OMIM:620371
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Failure to thrive ORPHA:2254
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Growth delay, Respiratory failure, Death in infancy ORPHA:1194
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618838
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... ORPHA:217563
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Vitili... ORPHA:51636
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Intraalveolar phospholipid accumulation, Failure to thrive OMIM:300770
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Intrauterine growth retardation, Absent toenail, Absent... ORPHA:158687
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure ORPHA:542323
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Failure to thrive ORPHA:444013
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Disproportionate short-limb short stature, Respiratory insufficiency, Neona... OMIM:224410
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Failure to thrive, Emphysema, Recurrent bronchopulmonary infections, Bronchi... OMIM:242700
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Failure to thrive, Death in childhood OMIM:615838
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory insufficiency, Postnatal growth retardation, Re... ORPHA:536467
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Failure to thrive, Death in childhood, Death in infancy, Cyanosis,... OMIM:618426
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Petechiae, Pulmonary infiltra... ORPHA:79477
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Cystinosis
Hypokalemia, Type I diabetes mellitus, Hypophosphatemia ORPHA:213
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Triosephosphate Isomerase Deficiency
Failure to thrive, Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory... OMIM:615512
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Failure to thrive, Short stature, Abnormal pu... ORPHA:209905
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Bruising susceptibility, Ocular albinism, Melanocytic nevus, Freckl... OMIM:203300
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Respiratory failure ORPHA:98913
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Respiratory failure, Small for gestational age, Death in childhood OMIM:619847
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Double Outlet Right Ventricle
Short stature, Pulmonary artery atresia, Failure to thrive, Cyanosis ORPHA:3426
Nijmegen Breakage Syndrome
Recurrent pneumonia, Abnormal hair morphology, Low anterior hairline, Cachexia, Recurrent sinopul... ORPHA:647
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Acrocyanosis, Growth delay, Failure to thrive OMIM:614407
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Respiratory failure OMIM:620249
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Metatropic Dysplasia
Severe short stature, Disproportionate short-limb short stature, Respiratory insufficiency, Dispr... OMIM:156530
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Growth delay, Respiratory failure ORPHA:445038
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Neonatal death, Palmoplantar cu... OMIM:616482
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618835
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respirato... ORPHA:365
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618839
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice, Bronchiectasis, Bronchitis ORPHA:60
Achondrogenesis Type 2
Short stature, Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Maternal Uniparental Disomy Of Chromosome 2
Pulmonary hypoplasia, Neonatal respiratory distress, Postnatal growth retardation, Intrauterine g... ORPHA:96179
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory failure, Chylothorax, Death in childhood, Death in infancy OMIM:620278
Chand Syndrome
Nail dysplasia, Atelectasis, Curly hair ORPHA:1401
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Sparse eyebrow, Recurrent pneumonia, Hirsutism, Growth delay, Respiratory failure, Respiratory fa... ORPHA:496641
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes... ORPHA:70
Abcd Syndrome
Large for gestational age, Neonatal death, White eyebrow, White eyelashes, Albinism OMIM:600501
Meckel Syndrome 14
Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia OMIM:619879
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Malignant Atrophic Papulosis
Telangiectasia of the skin, Weight loss, Pleural effusion, Respiratory failure ORPHA:679
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Mitochondrial Phosphate Carrier Deficiency