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Gene: Insm1 MGI:1859980

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
insulinoma-associated 1
Synonyms:
IA-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Insm1 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 Insm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Isolated Growth Hormone Deficiency, Type Ib
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... OMIM:612781
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:616950
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:108420
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... OMIM:620103
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:610021
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure ORPHA:132
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308700
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating calcitonin co... ORPHA:100083
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Cog2-Cdg
Small pituitary gland ORPHA:435934
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Ovarian Dysgenesis 1
Increased circulating gonadotropin level OMIM:233300
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Spermatogenic Failure 75
Elevated circulating follicle stimulating hormone level OMIM:619949
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618096
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Respiratory failure ORPHA:890
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test ORPHA:1261
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Orthostatic Hypotension 1
Reduced circulating prolactin concentration OMIM:223360
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, High palat... OMIM:611890
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... OMIM:615849
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... ORPHA:178320
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough,... ORPHA:2414
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis ORPHA:70578
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... OMIM:618187
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Respiratory failure requiring assisted ventilation, Respiratory insufficiency, ... OMIM:620265
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenocorticotropic hormone excess, Respir... OMIM:609981
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Breath-Holding Spells
Cyanosis OMIM:607578
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Pituitary Gigantism
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... ORPHA:99725
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp... ORPHA:52901
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Rhyns Syndrome
Anterior hypopituitarism, Reduced circulating growth hormone concentration, Decreased response to... OMIM:602152
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Hyper... OMIM:614299
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cryptorchidism, Respiratory failure, Respiratory insufficiency ORPHA:370968
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Oliver-Mcfarlane Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation t... OMIM:275400
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:276608
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Ovarian Dysgenesis 3
Aplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:614324
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Death in infancy OMIM:610678
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Xerostomia, Absence of pubertal developme... ORPHA:398069
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating gonadotropin concentration, ... OMIM:614841
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:614129
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Respiratory failure, Cirrhosis, Hepatic steatosis ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal dea... OMIM:614922
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Cryptorchidism, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:3363
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Hypohidrosis, Abnormality of th... ORPHA:3157
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis, Hypopitu... ORPHA:449285
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemi... ORPHA:276575
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level OMIM:617442
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis ORPHA:181
Fg Syndrome Type 1
Cryptorchidism, Small pituitary gland ORPHA:93932
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Neonatal respiratory distress, Splenomegaly, Jaundice, Respirator... OMIM:607625
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... OMIM:615512
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Death in infancy OMIM:614862
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test OMIM:245590
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Hyperekplexia 4
Respiratory failure OMIM:618011
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Respiratory failure, Death in infancy, Cryptorchidism ORPHA:1194
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Hepatic steatosis ORPHA:70472
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Apnea, Increased hepatic echogenicity, Hepatic steatosis OMIM:261680
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory ... ORPHA:99931
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellit... ORPHA:276580
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, High, narrow palate, Cryptorchidism ORPHA:2849
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Bruising susceptibility, Decreased... ORPHA:335
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:619004
Complete Androgen Insensitivity Syndrome
Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, In... ORPHA:99429
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Respiratory failure, Bruising susceptibility ORPHA:3226
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemic hypoglycemia, Excessive insulin response t... ORPHA:276556
Pulmonary Arteriovenous Malformation
Liver abscess, Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, P... ORPHA:2038
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:300148
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Anterior hypopituitarism ORPHA:2863
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cle... ORPHA:3426
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Intestinal malrotation, Productive cough, Asplenia, Wheezing, Bron... ORPHA:244
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defe... ORPHA:26791
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland OMIM:619479
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test ORPHA:79323
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Buerger Disease
Acrocyanosis ORPHA:36258
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia,... ORPHA:555874
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Tricuspid Atresia
Cyanosis ORPHA:1209
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Abnormal mucociliary clearance, Splenomegaly, Jaundice, Dyspnea, Nasal fl... ORPHA:90051
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... ORPHA:347
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Ta... ORPHA:60025
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Cyanosis, Patent ductus arteriosus, Tachypnea, Hyperhidrosis, Hypoxemia ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Death in infancy, Neonatal respiratory distress, Apnea, Lipid accumulation in hepat... OMIM:608836
Congenital Heart Block
Cyanosis, Crackles, Patent ductus arteriosus, Hyperhidrosis, Pleural effusion ORPHA:60041
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test OMIM:615286
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... ORPHA:672
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Breathing dysregulation OMIM:618232
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Patent ductus arteriosus, Jaundice, Hypopnea, Respiratory failure, Neona... OMIM:617248
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test OMIM:216100
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Temple Syndrome
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... ORPHA:254516
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Intestinal obstruction, Peritonitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory insufficiency, Cholestasis, Respiratory failure, Diffuse hepatic ... ORPHA:746
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of e... ORPHA:93111
Afibrinogenemia, Congenital
Death in infancy, Epistaxis, Splenic rupture, Death in adolescence, Death in childhood, Neonatal ... OMIM:202400
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato... ORPHA:308552
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumon... ORPHA:1329
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency, Cholestasis OMIM:609015
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Patent ductus arteriosus, Cyanosis, High palate ORPHA:3304
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Respiratory distress, Neonatal respiratory distress, Asth... ORPHA:209905
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Respiratory failure, Death in childhood OMIM:619847
4H Leukodystrophy
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:289494
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Malignant Atrophic Papulosis
Intestinal fistula, Telangiectasia of the skin, Intestinal perforation, Peritonitis, Respiratory ... ORPHA:679
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Mednik Syndrome
Death in infancy, Jejunal atresia, Erythema, Cholestasis, Hepatic fibrosis, Cirrhosis, Death in c... OMIM:609313
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:614732
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... ORPHA:210122
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Cryptorchidism, Abnormal respiratory system physiology, Respiratory failure, High palate ORPHA:98905
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... ORPHA:755
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio... ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Bile duct proliferation, Macrovesicular hepatic steatosis, Respiratory insuf... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Dyspnea, Patent ductus arteriosus, Respiratory insufficiency, Res... OMIM:610505
Alg1-Cdg
Respiratory failure, Protein-losing enteropathy ORPHA:79327
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Respiratory failure, Hepatocellular carcinoma ORPHA:88618
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Respiratory failure, Pneumothorax, Hepatic steatosis ORPHA:445038
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Splenomegaly, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acroc... OMIM:225750
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothalamu... ORPHA:264200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Congenital hypoparathyroidism, Decreased response to growth hormone stimulation t... OMIM:241410
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Esophageal varix, Periportal f... OMIM:263200
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Feingold Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden... ORPHA:1305
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemi... ORPHA:263455
Shwachman-Diamond Syndrome 2
Hepatomegaly, Death in infancy, Steatorrhea, High palate, Death in childhood, Hyperechogenic panc... OMIM:617941
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test ORPHA:436174
Fucosidosis
Hepatomegaly, Hypothyroidism, Abnormality of the gallbladder, Hyperhidrosis, Acrocyanosis, Vascul... ORPHA:349
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:280679
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Acrocyanosis, Decreased testicular size ORPHA:1867
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Microphthalmia, Syndromic 3
Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... OMIM:246200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Respiratory failure OMIM:620327
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palate OMIM:620249
Meckel Syndrome 14
Pneumothorax, Cyanosis, Hepatic fibrosis, Cardiorespiratory arrest OMIM:619879
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... ORPHA:478
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficiency, Hepatosplen... OMIM:618278
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ... ORPHA:94089
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Splenomegaly, Respiratory insufficiency, Respira... OMIM:252010
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimulation test OMIM:147250
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Narrow palate OMIM:616505
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Myasthenia Gravis
Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Hepatitis, Acrocyanosis, Hashimoto thyro... ORPHA:589
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth OMIM:259720
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Resp... OMIM:208500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Anterior pituitary hypoplasia, Breast hypoplasia ORPHA:464306
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Primary adrenal insufficiency, Restrictive vent... ORPHA:2905
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Decreased response to growth hormone stimulation test ORPHA:457240
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Sandestig-Stefanova Syndrome
Respiratory failure, High palate OMIM:618804
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Anterior pituitary hypoplasia OMIM:151050
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test OMIM:606407
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Decreased testicular size ORPHA:2326
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Trichothiodystrophy 5, Nonphotosensitive
Panhypopituitarism, Decreased testicular size OMIM:300953
Listeriosis
Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, Hepatic granu... ORPHA:533
Pai Syndrome
Encephalocele, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose ORPHA:1993
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cryptorchidism, Small pituitary gland, Decreased response to growth hormone stimulation test, Thy... OMIM:619503
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, Portal hypertension, Tachypnea, Esophageal varix, Cholestasis, Respirator... OMIM:613658
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test OMIM:609757
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test OMIM:617784
Dravet Syndrome
Cyanotic episode ORPHA:33069
Silver-Russell Syndrome 1
Testicular seminoma, Decreased response to growth hormone stimulation test OMIM:180860
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Hypohidrosis ORPHA:98813
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Patent ductus art... ORPHA:141127
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Delayed puberty OMIM:600462
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Respiratory failure, Hypoplasia of the thymus, Anal atresia OMIM:617666
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... ORPHA:31204
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Patent ductus arteriosus, Respi... OMIM:300868
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:618695
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:220210
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618922
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:101800
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Hiatus hernia, Dys... ORPHA:3342
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H... OMIM:181450
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Tachypnea, Cleft palate, Polycystic ovaries, Cough ORPHA:137675
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Abetalipoproteinemia
Hepatomegaly, Hypothyroidism, Respiratory failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Fat ... ORPHA:14
Esophageal Atresia
Respiratory distress, Cyanosis, Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Epis... ORPHA:1199
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation, Polysplenia OMIM:616749
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory insufficiency due to muscle weakness, ... ORPHA:365
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... ORPHA:293987
Double Outlet Left Ventricle
Cryptorchidism, Patent ductus arteriosus, Cyanosis, Tachypnea ORPHA:3427
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test OMIM:601853
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Hyperhidrosis OMIM:615280
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Tarp Syndrome
Cyanosis, Apnea, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue... ORPHA:2886
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... ORPHA:449432
Tuberous Sclerosis Complex
Respiratory distress, Pituitary adenoma, Parathyroid hyperplasia, Respiratory failure, Pheochromo... ORPHA:805
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... ORPHA:466791
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... ORPHA:456312
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Cyanosis, Asplenia, Posteriorly placed anus, Patent ductus ar... OMIM:306955
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:485405
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cryptorchidism, Dyspnea, High, narrow palate, Submucous cleft hard palate, ... ORPHA:2554
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis,... ORPHA:31826
Aceruloplasminemia
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration ORPHA:48818
Joubert Syndrome 21
Apnea, Dyspnea, Splenomegaly, Respiratory failure, Chronic sinusitis OMIM:615636
15Q24 Microdeletion Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:94065
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Cohen Syndrome
Decreased response to growth hormone stimulation test, Delayed puberty OMIM:216550
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Congenital adren... OMIM:618336
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cryptorchidism, Anterior pituitary hypoplasia OMIM:619841
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Familial Dysautonomia
Abnormal peritoneum morphology, Hypohidrosis, Acrocyanosis, Hyperhidrosis ORPHA:1764
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Maternal diabetes ORPHA:280200
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:619234
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test ORPHA:763
Bloom Syndrome
Pneumonia, Esophageal neoplasm, Chronic pulmonary obstruction, Telangiectasia, Respiratory failur... ORPHA:125
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Intestinal pseudo-obstruction, Decreased resp... ORPHA:273
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Esophagitis, Acrocyan... ORPHA:2896
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:609053
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Poliomyelitis
Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Niemann-Pick Disease Type C
Hepatomegaly, Splenomegaly, Jaundice, Respiratory insufficiency, Hepatosplenomegaly, Abnormality ... ORPHA:646
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells ORPHA:99885
Frontorhiny
Hypopituitarism, Diabetes insipidus ORPHA:391474
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Cyanosis, Increased pulmonary vascular resistance, Patent duc... ORPHA:97214
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Chronic rhinitis OMIM:617092
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
Ciliary Dyskinesia, Primary, 30
Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:96179
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231226
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test ORPHA:2980
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Delayed p... OMIM:616263
Myhre Syndrome
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Respiratory insufficiency, Respiratory fa... OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Respiratory failure, Abnormal rectum morphology, Abnorma... ORPHA:2556
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Miscarriage, Cryptorchidism, Hepatosplenomegaly, Restrictive ventilatory defect, Re... ORPHA:96334
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Pneumothorax, Renal tubular epith... ORPHA:79404
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinoma OMIM:276700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Respiratory failure ORPHA:254528
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Pancreatic islet-cell hyperp... OMIM:215140
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent pneumonia, Cleft palate, Respiratory failure, Cutaneous photosensitivity... ORPHA:647
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:307200
Isolated Biliary Atresia
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism ORPHA:30391
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Hepatic calcification, Pulmonary arterial hypertension, Pancreati... ORPHA:51608
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231214
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... ORPHA:93325
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Hepatocellular carcinoma, Pancr... OMIM:232220
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Truncus Arteriosus
Tachypnea, Patent ductus arteriosus, Cyanosis, Hypoplasia of the thymus ORPHA:3384
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia OMIM:200995
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Biliary, Renal, Neurologic, And Skeletal Syndrome
Bile duct proliferation, Diabetes insipidus, Anterior pituitary hypoplasia OMIM:619534
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Vasculitis in the skin, ... ORPHA:48435
Eec Syndrome
Decreased response to growth hormone stimulation test, Xerostomia, Hypohidrosis, Hypoplasia of th... ORPHA:1896
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis,... ORPHA:99125
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test OMIM:601808
Fanconi Anemia, Complementation Group F
Cryptorchidism, Decreased response to growth hormone stimulation test OMIM:603467
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Holoprosencephaly
Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Anterior hypopituitarism, Diabetes insipidus ORPHA:2162
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Respiratory failure, Bifid uvula ORPHA:2636
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Patent ductus arteriosus after birth at term, Cleft palate, Respiratory failu... ORPHA:500150
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test OMIM:617260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hyperh... ORPHA:96182
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Cleft palate, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism OMIM:603671
Lipoid Proteinosis
Nasal polyposis ORPHA:530
Costello Syndrome
Pyloric stenosis, Pneumothorax, Respiratory insufficiency, Macroglossia, Respiratory failure, Hig... OMIM:218040
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Supernumerary nipple, Cryptorchidism, Splenomegaly, Pancreatic islet-cell hyperplas... ORPHA:373
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Abnormality of the nose ORPHA:2869
Aicardi-Goutières Syndrome
Cutis marmorata, Hepatosplenomegaly, Prolonged neonatal jaundice, Acrocyanosis, Hypothyroidism ORPHA:51
Meier-Gorlin Syndrome 6
Cryptorchidism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:616835
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, High palate, Pulmonary a... ORPHA:740
Shwachman-Diamond Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Hypopituitarism, Pancre... ORPHA:811
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Diabetes insipidus OMIM:615465
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Hypergonadotropic hypogonadism, Decreased respon... OMIM:602782
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Ulbright-Hodes Syndrome
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, High palate ORPHA:3404
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst ORPHA:529962
Wiedemann-Steiner Syndrome
Decreased response to growth hormone stimulation test ORPHA:319182
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Supernumerary nipple OMIM:213980
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Abnormality of the en... ORPHA:268261
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Cryptorchidism, Splenomegaly, Adrenocortical carcinoma, ... ORPHA:116
Charge Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the adrenal glands, Delayed puberty... ORPHA:138
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363958
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:604292
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Hiatus hernia, Rectal prolapse, Ecchymosis, Acro... ORPHA:287
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Pineal cyst OMIM:615873
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:129900
Microphthalmia, Syndromic 6
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism, Abnormality of... OMIM:607932
Gabriele-De Vries Syndrome
Cryptorchidism, Hypothyroidism, Decreased response to growth hormone stimulation test, Breast hyp... ORPHA:506358
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test OMIM:180500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Granulomatosis With Polyangiitis
Concave nasal ridge, Nasal mucosa vasculitis OMIM:608710
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-cell hyperplas... OMIM:312870
Congenitally Corrected Transposition Of The Great Arteries
Patent ductus arteriosus, Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Cutis marmorata, Rectal prolapse, Narrow palate, High palate, Acrocyanosis OMIM:303600
Peters Plus Syndrome
Cryptorchidism, Anterior hypopituitarism, Congenital hypothyroidism ORPHA:709
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Lysinuric Protein Intolerance
Pancreatitis, Decreased response to growth hormone stimulation test ORPHA:470
Peutz-Jeghers Syndrome
Nasal polyposis OMIM:175200
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea, Malabsorption ORPHA:285
Witteveen-Kolk Syndrome
Type II diabetes mellitus, Unilateral cryptorchidism, Decreased response to growth hormone stimul... OMIM:613406
Benign Schwannoma
Nasal polyposis ORPHA:252164
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Sarcoidosis
Abnormal nasal mucosa morphology, Eosinophilia ORPHA:797
Cystic Fibrosis
Nasal polyposis OMIM:219700
Cystic Fibrosis
Nasal polyposis ORPHA:586

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Insm1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Insm1.

No publications found that use IMPC mice or data for Insm1.

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MGI Allele Allele Type Produced
Insm1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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