Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inositol polyphosphate phosphatase-like 1
Synonyms:
SHIP2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Inppl1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Inppl1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Opsismodysplasia
Depressed nasal bridge, Short nose ORPHA:2746
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Hypophosphatemia, Short nose OMIM:258480
Schneckenbecken Dysplasia
Disproportionate short-limb short stature ORPHA:3144

The table below shows human diseases predicted to be associated to Inppl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... ORPHA:314802
Acid-Labile Subunit Deficiency
Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postna... OMIM:615961
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... ORPHA:314811
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Lethargy, Short stature, Growth delay, Reduced TSH respon... OMIM:618573
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Transient n... ORPHA:99886
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Lethargy, Ketotic hypoglycemia ORPHA:26792
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy, Hypoglycemia OMIM:610006
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoketotic hypoglycemia, Hyperin... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... ORPHA:453533
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Apnea, Cyanosis, Adrenal hypoplasia OMIM:240200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Lethargy, Ketotic hypoglycemia, Short stature ORPHA:2089
Riboflavin Deficiency
Lethargy, Hypoglycemia OMIM:615026
Body Mass Index Quantitative Trait Locus 19
Anosmia, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia,... OMIM:617885
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia ORPHA:446
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Apnea, Lethargy, Dyspnea, Hyperventilation OMIM:229700
Non-Acquired Isolated Growth Hormone Deficiency
Premature skin wrinkling, Prolonged neonatal jaundice, Delayed puberty, Short stature, Neonatal h... ORPHA:631
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose, Wide nose OMIM:125700
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Diabetes mellitus, Hypoxemia ORPHA:140896
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
17Q21.31 Microduplication Syndrome
Anteverted nares, Delayed puberty, Failure to thrive, Short nose ORPHA:217340
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Infantile Liver Failure Syndrome 2
Jaundice, Lethargy, Hypoglycemia OMIM:616483
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Lethargy, Hypoglycemia OMIM:618120
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:246900
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis OMIM:302000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Central apnea, Cyanosis ORPHA:71277
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Postnatal growth retardation, Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Apnea, Cyanosis, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Peroxisome Biogenesis Disorder 3B
Depressed nasal ridge, Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid... OMIM:266510
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Prominent nasal tip, Hypothyroidism, Small for gestationa... OMIM:610883
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Lethargy, Diabetes mellitus, Abnormality of endocrine pancreas physiology ORPHA:79230
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Lethargy, Diabetes mellitus ORPHA:49827
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Apnea, Hypoglycemia OMIM:619048
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Lethargy, Tachypnea, Increased circulating procalcitonin concentration, Dys... ORPHA:36238
Intellectual Developmental Disorder, X-Linked 91
Obesity, Short nose OMIM:300577
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Lethargy OMIM:617065
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Lethargy, Hypoglycemia OMIM:619386
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Rhiny
Anteverted nares, Short nose OMIM:180360
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration... ORPHA:99832
Evans Syndrome
Bruising susceptibility, Petechiae, Lethargy, Dyspnea, Jaundice ORPHA:1959
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Hemochromatosis, Neonatal
Prolonged neonatal jaundice, Intrauterine growth retardation, Hypoglycemia OMIM:231100
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia OMIM:600649
Carnitine Deficiency, Systemic Primary
Respiratory distress, Lethargy, Impaired gluconeogenesis, Recurrent hypoglycemia OMIM:212140
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp... OMIM:616113
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Lethargy, Growth delay OMIM:613561
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Birth len... OMIM:300148
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell hyperplasia, Lethar... ORPHA:263455
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Apnea, Hypoglycemia OMIM:210200
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia,... OMIM:201400
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Growth delay OMIM:274270
Glycogen Storage Disease Ixb
Short stature, Growth delay, Hypoglycemia OMIM:261750
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia, Depression, Apathy ORPHA:240085
Classic Galactosemia
Depression, Hypoglycemia, Lethargy, Decreased serum insulin-like growth factor 1, Delayed puberty... ORPHA:79239
Squalene Synthase Deficiency
Depressed nasal bridge, Failure to thrive in infancy, Hypocholesterolemia, Decreased LDL choleste... OMIM:618156
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Depressed nasal bridge, Failure to thrive, Hypocholesterolemia, Short nose OMIM:608776
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Cyanosis, Lethargy, Fasting hypoglycemia, Sudden episodic apnea ORPHA:159
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Failure to thrive, Short nose OMIM:618379
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Hereditary Central Diabetes Insipidus
Lethargy, Diabetes insipidus, Growth delay ORPHA:30925
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypobetalipoproteinemia, Familial, 1
Hypocholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Decreased HDL... OMIM:615558
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Lethargy, Elevated circulati... ORPHA:95717
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Broad nasal tip, Short nose OMIM:613670
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Short nose OMIM:245570
Propionic Acidemia
Hypoglycemia, Apnea, Lethargy, Tachypnea, Short stature OMIM:606054
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
2P21 Microdeletion Syndrome
Hypogonadism, Growth delay, Hypoglycemia ORPHA:163693
Hyperlysinuria With Hyperammonemia
Lethargy, Growth delay OMIM:238750
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis OMIM:263000
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Hypoventilation, Neonatal death OMIM:618232
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Intrauterine growth retardation, Stillbirth OMIM:619751
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus ORPHA:2596
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Elevated circulating thyroid-stimu... OMIM:617872
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Hypoglycemia ORPHA:2394
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:607765
Bardet-Biedl Syndrome 16
Respiratory distress, Short stature, Hypogonadism OMIM:615993
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Growth delay, Goiter OMIM:274400
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia ORPHA:156
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Exertional dyspnea, Hypoglycemia ORPHA:42
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone... OMIM:613038
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Dyspnea ORPHA:1832
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Propionic Acidemia
Hypoglycemia ORPHA:35
Burn-Mckeown Syndrome
Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose ORPHA:1200
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Premature skin wrinkling OMIM:617950
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Prolonged neonatal jaundice, Decreased circu... ORPHA:199296
Glycogen Storage Disease Ixc
Postnatal growth retardation, Hypoglycemia, Growth delay, Fasting hypoglycemia OMIM:613027
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Lethargy, Short stature, Jaundice, Growth delay OMIM:250940
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Postnatal growth retardation, Hypoglycemia ORPHA:231137
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea, Hypoglycemia OMIM:615160
Necrotizing Enterocolitis
Hyperglycemia, Apnea, Cyanosis, Abnormal glucose homeostasis, Lethargy ORPHA:391673
Glycogen Storage Disease Iii
Short stature, Hypoglycemia OMIM:232400
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Laron Syndrome
Severe short stature, Hypoglycemia, Delayed puberty, Abnormality of the endocrine system, Prematu... ORPHA:633
High Altitude Pulmonary Edema
Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Glycine Encephalopathy 1
Lethargy OMIM:605899
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Intrauterine growth retardation, Proportionat... ORPHA:71212
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Hypoglycemia ORPHA:48431
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Apnea OMIM:618225
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy, Growth delay ORPHA:289916
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:369
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Intrauterine growth... ORPHA:73272
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Neonatal death OMIM:610498
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:618905
Muscular Hypertonia, Lethal
Respiratory distress OMIM:254120
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Hypoglycemia OMIM:201450
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Growth delay, Cyanosis ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia OMIM:618838
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose OMIM:155050
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH level, Abnor... OMIM:202200
Maple Syrup Urine Disease, Type Ia
Lethargy, Hypoglycemia OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Apnea, Growth delay OMIM:618226
Meconium Aspiration Syndrome
Respiratory distress, Intrauterine growth retardation, Hypoxemia, Maternal diabetes ORPHA:70588
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Hypocholesterolemia, Anteverted nares OMIM:618810
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Recurrent upper respiratory tract infections, Decreased serum leptin OMIM:614962
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic epi... ORPHA:348
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hypertriglyceridemia, Increased C-peptide level, Decreased serum lep... OMIM:615238
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia OMIM:306000
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Succinic Acidemia
Respiratory distress OMIM:600335
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Apnea OMIM:618228
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, S... ORPHA:95496
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Tachypnea, Nonketotic hypoglycemia OMIM:201475
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased proinsulin:insulin ratio, Elevated circulating ... ORPHA:94086
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature OMIM:300580
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Prominent nasal tip, Short nose ORPHA:502430
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Primary gonadal insufficiency, Decreased circulating progesterone OMIM:603896
Holocarboxylase Synthetase Deficiency
Respiratory distress, Lethargy, Tachypnea, Growth delay ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Lethargy, Hypoglycemia OMIM:251000
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618835
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618839
Pyruvate Dehydrogenase Deficiency
Intrauterine growth retardation, Lethargy, Tachypnea, Dyspnea, Growth delay ORPHA:765
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Multifocal Atrial Tachycardia
Dyspnea, Lethargy, Tachypnea, Hypothyroidism ORPHA:3282
Pontocerebellar Hypoplasia, Type 6
Lethargy, Apnea OMIM:611523
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Glucose intolerance, Growth delay, Impaired glucose tolerance OMIM:614407
Severe Canavan Disease
Lethargy ORPHA:314911
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Decreased response to growth hormone stimulation test, Severe short stature OMIM:245590
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Neuralgic Amyotrophy
Short stature, Acrocyanosis ORPHA:2901
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Hypoketotic hypoglycemia, Tachypnea, Lethargy, Jaundice ORPHA:26793
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Immunodeficiency 95
Respiratory distress OMIM:619773
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Respiratory distress, Intrauterine growth retardation, Lethargy, Jaundice OMIM:617156
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n... ORPHA:226307
Tenorio Syndrome
Hypoinsulinemia, Apnea, Hypoglycemia OMIM:616260
Isolated Atp Synthase Deficiency
Respiratory distress, Hypogonadism, Lethargy, Hypothyroidism, Short stature ORPHA:254913
Breath-Holding Spells
Cyanosis OMIM:607578
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Lethargy OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Growth delay, Hypoglycemia, Neonatal death OMIM:245400
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... ORPHA:96180
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Central Diabetes Insipidus
Lethargy, Depression, Diabetes insipidus ORPHA:178029
Non-Distal Duplication 10Q
Depressed nasal bridge, Convex nasal ridge, Short nose ORPHA:1695
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy, Hypoglycemia OMIM:251110
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Intrauterine growth retardation, Dorsocervical fat pad, Proportionate short stature... ORPHA:391408
Clark-Baraitser Syndrome
Depressed nasal bridge, Obesity, Anteverted nares, Low hanging columella, Short nose OMIM:617752
Foxp1 Syndrome
Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Broad nas... ORPHA:391372
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Growth delay OMIM:250800
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Short nose OMIM:611936
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Tachypnea, Jaundice, Hypoglycemia OMIM:615751
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Lethargy ORPHA:79312
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Solitary Fibrous Tumor
Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia ORPHA:2126
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Short nose ORPHA:2429
Pierpont Syndrome
Broad nasal tip, Failure to thrive, Decreased body weight, Short nose, Wide nose OMIM:602342
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:1302
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Apnea, Hypoglycemia OMIM:618253
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Lethargy OMIM:602390
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Apnea, Cyanosis, Lethargy OMIM:620423
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Cyclic Vomiting Syndrome
Lethargy, Growth delay OMIM:500007
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Lethargy, Rhizomelia, Hypoglycemia OMIM:607143
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation OMIM:616733
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Cholera
Hypoglycemia, Palmoplantar cutis laxa, Tachypnea, Lethargy, Hyperventilation ORPHA:173
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Hyperoxemia ORPHA:70589
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr... ORPHA:79085
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Hypogonadotropic hypogonadism, Letharg... ORPHA:465508
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Hypoglycemia OMIM:614702
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Lethargy, Tachypnea OMIM:614299
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Apnea, Lethargy, Apathy, Tachypnea, Nonketotic hypoglycemia, Jaundice ORPHA:20
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... ORPHA:1248
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Postnatal growth... OMIM:246200
Congenital Laryngeal Web
Respiratory distress, Short stature ORPHA:2374
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Intrauterine growth retardation, Hypothyroidism, Delayed puberty, Promine... OMIM:616817
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Respiratory distress, Neonatal death, Jaundice OMIM:231680
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Hypercalcemia, Infantile, 1
Lethargy, Decreased circulating parathyroid hormone level OMIM:143880
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Hypogonadism, Decreased serum testosterone concentration, Lethargy, Short stat... OMIM:201100
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia OMIM:255120
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Apnea, Cyanosis, Tachypnea, Hypoxemia ORPHA:2257
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Short nose ORPHA:261120
Hereditary Fructose Intolerance
Jaundice, Lethargy, Growth delay, Reactive hypoglycemia ORPHA:469
Aromatic L-Amino Acid Decarboxylase Deficiency
Short stature, Increased circulating prolactin concentration, Hypoglycemia ORPHA:35708
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia, Intrauterine growth retardation, Hypoventilation OMIM:620275
Potocki-Shaffer Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Short nose OMIM:601224
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Tachypnea OMIM:237310
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Short nose ORPHA:1529
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Neonatal death, Tachypnea, Exertional dyspnea, Dyspnea, Hy... OMIM:610921
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy ORPHA:927
Citrullinemia Type I
Lethargy, Tachypnea ORPHA:247525
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 59
Apathy, Ketotic hypoglycemia, Apnea OMIM:620646
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Tachypnea, Growth delay OMIM:614857
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Acrocephalopolydactyly
Depressed nasal ridge, Short nose ORPHA:221054
Laryngomalacia
Respiratory distress OMIM:150280
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Congenital hypothyroidism, Obesity, Anteverted nares, Diabetes mellitus, ... OMIM:614613
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia ORPHA:240103
Smith-Magenis Syndrome
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Failure to thrive in infancy, Obes... ORPHA:819
Malaria
Respiratory distress ORPHA:673
Chung-Jansen Syndrome
Obesity, Anteverted nares, Short nose OMIM:617991
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Increased circulating p... ORPHA:90674
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short nose OMIM:302950
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:2302
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Lethargy, Irregular respiration OMIM:604377
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short nose ORPHA:1389
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Apnea, Reduced subcutaneous adipose tissue, Severe intrauterine grow... OMIM:609069
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Neonatal hyp... OMIM:606407
Peho-Like Syndrome
Short nose OMIM:617507
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Hypoketotic hypoglycemia OMIM:609015
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Depressed nasal bridge, Failure to thrive, Hypocholesterolemia, Hypothyroidism, ... OMIM:212065
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay OMIM:231530
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Short nose, Elevated circulating parathyroid hormone level OMIM:618618
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Hypothyroidism, Hypoglycemia ORPHA:397590
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
Perlman Syndrome
Wide nasal bridge, Hyperinsulinemia, Anteverted nares, Short nose ORPHA:2849
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia ORPHA:79237
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Prominent nasal bridge, Chronic rhinitis... ORPHA:79324
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dyspnea ORPHA:97285
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Maternal diabetes ORPHA:860
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Anteverted nares, Short nose OMIM:619854
Isolated Complex I Deficiency
Intrauterine growth retardation, Lethargy, Diabetes mellitus, Hypoglycemia ORPHA:2609
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec... ORPHA:226313
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous lipoma, In... OMIM:131100
Cog8-Cdg
Spontaneous hematomas, Hypoglycemia ORPHA:95428
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Failure to thrive, Hypocholesterolemia, Anteverted nares, Short nose OMIM:244450
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Short nose ORPHA:2598
17P13.3 Microduplication Syndrome
Short nose, Wide nose ORPHA:217385
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Edinburgh Malformation Syndrome
Choanal atresia, Anteverted nares, Failure to thrive, Short nose ORPHA:1895
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Type I diabetes mellitus OMIM:620166
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr... ORPHA:435651
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Meningococcal Meningitis
Increased circulating procalcitonin concentration, Lethargy, Purpura, Petechiae ORPHA:33475
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis ORPHA:2004
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Obesity, Anteverted nares, Short columella, Short nose ORPHA:171839
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Growth delay, Hypoglycemia OMIM:615453
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Anteverted nares, Reduced circulati... OMIM:616430
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Susac Syndrome
Lethargy, Apathy ORPHA:838
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Hyperammonemia, Hypoglutaminemia, Sh... OMIM:610015
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia ORPHA:264675
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis OMIM:610910
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Miller-Dieker Syndrome
Anteverted nares, Short nose ORPHA:531
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Apnea, Nonketotic hypoglycemia, Hypoglycemia OMIM:608836
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Tachypnea OMIM:615838
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Hypoglycemia OMIM:210210
Pterygium Colli, Isolated
Short nose OMIM:177990
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
Renal Hypoplasia, Bilateral
Short stature, Lethargy, Growth delay, Glycosuria ORPHA:97362
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Short nose OMIM:618506
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short nose ORPHA:289266
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Lethargy OMIM:611590
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Oxygen desa... OMIM:610978
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose OMIM:137550
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Tricuspid Atresia
Cyanosis ORPHA:1209
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Intrauterine growth retardation, Jaundice, Hypoglycemia OMIM:617093
Beta-Ketothiolase Deficiency
Hyperglycemia, Tachypnea, Apathy, Hypoglycemia ORPHA:134
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Lethargy, Intrauterine growth retardation ORPHA:2169
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:614732
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Hypoglycemia OMIM:617049
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea ORPHA:2032
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogona... ORPHA:398079
Scrub Typhus
Dyspnea, Lethargy ORPHA:83317
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Elevated circulating creatine k... ORPHA:435660
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Goiter, Glucose intolerance, Bipolar affective disorder, Lethargy, Hypothyroidism, Ex... ORPHA:254892
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Lethargy, Hypoketotic hypoglycemia ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia, Apnea, Cyanosis, Lethargy, Growth delay OMIM:252010
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:261304
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Fasting h... OMIM:180860
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Anteverted nares, Short nose OMIM:618577
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Congenital Heart Block
Intrauterine growth retardation, Cyanosis ORPHA:60041
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Thyroid carcinoma, Hurthle cell thyroid adenoma, Short nose ORPHA:210548
Periventricular Nodular Heterotopia 7
Anteverted nares, Failure to thrive, Short nose OMIM:617201
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia OMIM:616638
Histiocytoid Cardiomyopathy
Lethargy, Tachypnea, Cyanosis, Hypoglycemia ORPHA:137675
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Failure to thrive, Short nose OMIM:616420
Choanal Atresia
Respiratory distress, Cyanosis ORPHA:137914
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Respiratory distress, Intrauterine growth retardation, Lethargy, Jaundice, Growth d... ORPHA:79282
Tetrasomy 5P
Respiratory distress, Postnatal growth retardation, Cyanosis ORPHA:3309
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Hypoxemia, Cyanosis ORPHA:79126
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress ORPHA:254875
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Neonatal death OMIM:620300
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Congenital Disorder Of Glycosylation, Type It
Growth delay, Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Dyspne... OMIM:614921
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Short nose OMIM:613604
Anaplastic Thyroid Carcinoma
Dyspnea, Goiter, Respiratory distress, Nodular goiter, Anaplastic thyroid carcinoma ORPHA:142
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short nose OMIM:300558
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Verheij Syndrome
Wide nasal bridge, Broad nasal tip, Anteverted nares, Small for gestational age, Short nose OMIM:615583
Isovaleric Acidemia
Lethargy OMIM:243500
Ogden Syndrome
Postnatal growth retardation, Lethargy ORPHA:276432
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose OMIM:618774
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Dengue Fever
Petechiae, Lethargy, Bruising susceptibility ORPHA:99828
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose ORPHA:1495
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Short nose, Prominent nasal bridge OMIM:613544
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Neonatal hypoglycemia, Hypoglycemia, Neonatal death OMIM:619055
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Lethargy, Short stature, Growth d... OMIM:307030
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoglycemia OMIM:617575
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Growth delay, Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Im... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Stillbirth, Neonatal death OMIM:614922
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea ORPHA:444013
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Hypoparathyroidism, Cyanosis, Tachypnea, Short stature ORPHA:3426
Diamond-Blackfan Anemia 8