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Gene: Hpn MGI:1196620

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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:
hepsin
Synonyms:
Hlb320

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 Hpn 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 Hpn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Pendred Syndrome
Abnormal vestibular function, Increased circulating thyroglobulin level, Congenital sensorineural... OMIM:274600
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Decre... OMIM:620198
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Fetal Iodine Syndrome
Sensorineural hearing impairment, Hypothyroidism ORPHA:1910
Wolfram-Like Syndrome
Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineural hearing impairment, Optic ... ORPHA:411590
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Fetal Iodine Deficiency Disorder
Congenital goiter, Hearing impairment, Congenital hypothyroidism OMIM:228355
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pendred Syndrome
Hyperparathyroidism, Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo, Hyp... ORPHA:705
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, CNS hypomyelination, Abnor... ORPHA:320401
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Elevated circulating thyroid-stimulating hormone concentration, Underfol... OMIM:300523
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hearing impairment ORPHA:401830
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Hearing impairment, Elevated circ... OMIM:274300
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... ORPHA:95716
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steatorrhea, ... OMIM:266510
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Gne Myopathy
Facial palsy, Hypothyroidism, Mildly elevated creatine kinase ORPHA:602
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... ORPHA:453533
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Potocki-Lupski Syndrome
Delayed myelination, EEG abnormality, Hypocholesterolemia, Hypothyroidism, Hearing impairment OMIM:610883
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Hypothyroidism, Leukodystrophy OMIM:619851
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Abnormal myelination ORPHA:85179
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Squalene Synthase Deficiency
Posteriorly rotated ears, Increased circulating farnesol concentration, Decreased LDL cholesterol... OMIM:618156
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Congenital hypothyroidism ORPHA:96183
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Congenital Disorder Of Glycosylation, Type Ii
Delayed CNS myelination, Sensorineural hearing impairment, Hypsarrhythmia, Low-set ears, Hypothyr... OMIM:607906
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sensorineural hearing impairment, Delayed myelination, Delayed puberty, Macrotia, Hypothyroidism,... OMIM:616817
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula... OMIM:600791
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Decreased serum iron, Abnormality of the ear, EEG abnormality, Recurrent otiti... ORPHA:391372
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Male hypogonadism, Hypothyroidism OMIM:618625
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Central hy... OMIM:616113
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Hypothyroidism, Neonatal hyperbilirubinemia, Decreased response to growth hormone s... ORPHA:3363
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... OMIM:188570
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microtia, Hypothyroidism, Delayed puberty ORPHA:2994
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Delayed CNS myelination, Posteriorly rotated ears, Low-set ears, Hypothyroidism, Hearing impairment OMIM:617763
Srd5A3-Cdg
Optic atrophy, Hypothyroidism, Decreased response to growth hormone stimulation test, Hearing imp... ORPHA:324737
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Gray matter heterotopia, Dysgyria, Abnormal myelination, Type II lissencephaly ORPHA:352682
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Isolated Atp Synthase Deficiency
Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Hypogonadism, Hyperalaninemia, H... ORPHA:254913
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Li-Campeau Syndrome
Hypothyroidism, Low-set ears OMIM:619189
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Posteriorly rotated ears, Elevated circulating C-reactive protein concentration, Low-set ears, El... OMIM:619750
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Delayed CNS myelination, Optic atrophy, Leukodyst... OMIM:616881
Reni Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment, Hypogonadism, Hypoalbuminemia, Adrenal in... OMIM:617575
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Large fleshy ears, Abnormal pinna morphology, Congenital hypothyroidism ORPHA:352530
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Delayed CNS myelination, Abnormal auditory evoked potentials, Sensorineural he... OMIM:619260
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Severe demyelination of the white matter, Sensorineural hearing impairment, De... ORPHA:391408
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Atelis Syndrome 1
Glue ear, Hypothyroidism, Microtia OMIM:620184
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
B4Galt1-Cdg
Hypothyroidism, Decreased LDL cholesterol concentration, Elevated circulating creatine kinase con... ORPHA:79332
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Hypothyroidism, CNS hypomyelination, Inter... OMIM:618922
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Vertigo... ORPHA:77296
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia, Low-set ears, Decreased circulati... OMIM:608104
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sensorineural hearing i... ORPHA:96180
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Hypothyroidism, Hypsarrhythmia OMIM:301058
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Hypothyro... OMIM:222300
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Hawkinsinuria
Abnormal circulating tyrosine concentration, Hypothyroidism ORPHA:2118
Autosomal Dominant Optic Atrophy, Classic Form
Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Hypogonadism, Temporal optic ... ORPHA:98673
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, EEG abnormality, Increased circulating co... ORPHA:1227
Intellectual Developmental Disorder, Autosomal Dominant 52
Delayed CNS myelination, Asymmetry of the ears, Sensorineural hearing impairment, Low-set ears, H... OMIM:617796
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Abnormal motor evoked potentials, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellit... ORPHA:412057
Combined Oxidative Phosphorylation Deficiency 33
EEG with burst suppression, Sensorineural hearing impairment, Hypothyroidism, Elevated circulatin... OMIM:617713
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
EEG abnormality, Hypothyroidism OMIM:613970
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Congenital sensorineural hearing impairment, Sensorineural hearing impa... OMIM:619147
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Cowden Syndrome 5
Hyperthyroidism, Hearing impairment, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615108
Chromosome 1P35 Deletion Syndrome
Posteriorly rotated ears, Elevated maternal serum alpha-fetoprotein, Sensorineural hearing impair... OMIM:617930
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Hypothyroidism OMIM:600430
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase ORPHA:663
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Diabetes mellitus, Facial palsy, Sensorineural hearing... ORPHA:456312
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... ORPHA:90673
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Cowden Syndrome 6
Hyperthyroidism, Hearing impairment, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615109
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Protruding ear, Microtia, Low-set ears, Hypothyroidism OMIM:618829
19P13.12 Microdeletion Syndrome
Precocious puberty, External ear malformation, Hyperlipidemia, Sensorineural hearing impairment, ... ORPHA:254346
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Laron Syndrome
Hypercholesterolemia ORPHA:633
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia, Hypothyr... ORPHA:2479
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, EEG abnormality, Delayed puberty, Conductive hearing im... ORPHA:819
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Monosomy 18P
Abnormal antihelix morphology, Macrotia, Hypothyroidism, Protruding ear ORPHA:1598
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating creatine kinase concentration, Premature thelarche, Elevated circulating acy... OMIM:616878
Galloway-Mowat Syndrome 6
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test OMIM:618347
Neurodevelopmental Disorder With Language Delay And Seizures
CNS hypomyelination, Hypothyroidism, Hypomagnesemia OMIM:619908
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormal CNS... ORPHA:206443
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism OMIM:614450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Ohdo Syndrome, Sbbys Variant
Posteriorly rotated ears, Hypothyroidism, Low-set ears, Hearing impairment OMIM:603736
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Sensorineural hearing impairment, Hypothyroidism, Low-set ears ORPHA:85321
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia, Hypothyroidism, Decreased response to grow... OMIM:609053
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Hearing impairment OMIM:300623
Distal Xq28 Microduplication Syndrome
Absent antihelix, Microtia, Hypothyroidism, Neonatal hyperbilirubinemia ORPHA:293939
Oculoskeletodental Syndrome
Hypercalcemia, Hypothyroidism, Hypocalcemia, Hearing impairment OMIM:618440
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis... ORPHA:83601
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Fucosidosis
Hypothyroidism, Hearing impairment, Hyperhidrosis ORPHA:349
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Cowden Syndrome 1
Hyperthyroidism, Hearing impairment, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:158350
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Progressive hearing impairment, Hypothyroidism, Decreased response to growth hormone stimulation ... OMIM:619234
Dilated Cardiomyopathy With Ataxia
Elevated circulating glutaric acid concentration, Optic atrophy, Hypothyroidism, Bilateral sensor... ORPHA:66634
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Hyperkalemia, Increased c... OMIM:614736
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, CNS demyelination, Peripheral demyelination, EEG ... ORPHA:206448
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Inappropria... ORPHA:79330
Seckel Syndrome 7
Microtia, Central hypothyroidism OMIM:614851
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Vertigo, Abnormal circulating creatine kinase concentration, Hypothyroidism ORPHA:263297
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Transient hyperphenylalaninemia, Hearing impairment ORPHA:98808
Mpi-Cdg
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... ORPHA:769
Galloway-Mowat Syndrome 10
Delayed CNS myelination, Simplified gyral pattern, Congenital hypothyroidism OMIM:619609
Cenani-Lenz Syndrome
Hypothyroidism, Hearing impairment, Protruding ear ORPHA:3258
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Mildly elevated creatine kin... ORPHA:95433
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Recurrent otitis media, Macrotia, Hypothyroidism ORPHA:449291
Down Syndrome
Aganglionic megacolon, Type II diabetes mellitus, Round ear, Conductive hearing impairment, Hypot... ORPHA:870
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Neuhauser Syndrome
Delayed CNS myelination, Cupped ear, Large fleshy ears, Primary hypothyroidism, Hypercholesterolemia OMIM:249310
Bilateral Polymicrogyria
4-layered lissencephaly, Sensorineural hearing impairment, Perisylvian polymicrogyria, Central hy... ORPHA:268940
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Igg4-Related Thyroid Disease
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... ORPHA:64744
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Delayed myelination, Congenital hypothyroidism, Bilateral sensorineural hearing impairment, Macro... ORPHA:521445
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Central hypothyroidism ORPHA:514
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Septo-optic dysplasia, Adrenal hypoplasia, Hypothyroidism, Delayed p... ORPHA:95496
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Sensorineural hearing impai... ORPHA:550
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Congenital Disorder Of Glycosylation, Type Ia
Macrotia, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Low-set ears ORPHA:397590
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:480864
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... OMIM:612885
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Optic atrophy, Congenital hypothy... OMIM:101800
Monosomy 18Q
Sensorineural hearing impairment, Bilateral conductive hearing impairment, Abnormal myelination, ... ORPHA:1600
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Low-set ears, Round ear, Hypothyroidism, H... OMIM:614114
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... OMIM:103580
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Sensorineural hearing impairment, Simplified gyral pattern, Abnormal circulati... OMIM:616541
Alg12-Cdg
Hyponatremia, Abnormal pinna morphology, Sensorineural hearing impairment, Hypoalbuminemia, Hypoc... ORPHA:79324
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Posteriorly rotated ears, Low-set ears, Type I diabetes mellitus, Hypothyroidism, Hashimoto thyro... OMIM:613385
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Increased serum iron, Hypogonadism, Adrenal insuffi... ORPHA:300298
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Highly elevated creatine kinase, Optic atrophy, Hypothyroidism, Elevated circulating creatine kin... OMIM:251900
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Sensorineural hearing impairment, Delayed puberty, Hypothyroidism, Demyelinati... OMIM:616263
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Abnormal cortical gyration, Delayed myelination, Optic atrophy, Congeni... OMIM:617527
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis... ORPHA:1667
Ddost-Cdg
Primary hypothyroidism, CNS hypomyelination ORPHA:300536
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Sensorineural hearing imp... ORPHA:488632
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Stenosis of the external auditory canal, Decreased response to growth hormone stimulation test, C... OMIM:601427
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Increased circulating thyroglobulin level, Sensorineural hearing impairment, E... OMIM:610199
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Hypohidrosis, Increased blood urea nitrogen, ... ORPHA:90321
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Hearing i... ORPHA:254892
Cystinosis
Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I diabetes m... ORPHA:213
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatose... ORPHA:99027
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, S... ORPHA:209905
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas... ORPHA:93111
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Optic disc coloboma, Severe sensor... OMIM:620186
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Intellectual Developmental Disorder, Autosomal Dominant 42
Posteriorly rotated ears, EEG with burst suppression, Sensorineural hearing impairment, EEG with ... OMIM:616973
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Martin-Probst Syndrome
Sensorineural hearing impairment, Hypothyroidism, Low-set ears OMIM:300519
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Ring Chromosome 12 Syndrome
Microtia, Hypothyroidism, Low-set ears ORPHA:1439
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia, Hypohidrosis ORPHA:1563
Kaufman Oculocerebrofacial Syndrome
Abnormal pinna morphology, Low-set ears, Hypocholesterolemia OMIM:244450
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Low-set ears, Hypohidrosis ORPHA:1812
Lymphatic Malformation 6
Abnormal pinna morphology, Cupped ear, Hypothyroidism, Hearing impairment OMIM:616843
Aicardi-Goutieres Syndrome 9
Delayed CNS myelination, Acute pancreatitis, Optic atrophy, Hypoalbuminemia, Hypothyroidism OMIM:619487
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Abnormal autonomic nervous system physiology, Abnormal helix morphology,... ORPHA:453499
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Hyperthyroidism, Mildly elevated creatine kinase, Increased circulating prolac... ORPHA:502423
Koolen-De Vries Syndrome
Overfolded helix, Hypothyroidism, Protruding ear ORPHA:96169
Secondary Short Bowel Syndrome
Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Central hypothyro... ORPHA:95427
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Trichohepatoneurodevelopmental Syndrome
Exocrine pancreatic insufficiency, EEG abnormality, Recurrent pancreatitis, Increased serum bile ... OMIM:618268
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Low-set, posteriorly rotated ears ORPHA:228426
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... OMIM:609152
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Elevated circulating creatine kinase concentration, Increased circulating prolac... OMIM:617675
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Immunodeficiency 102
Hypothyroidism OMIM:301082
Cockayne Syndrome A
Anhidrosis, Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory evoked ... OMIM:216400
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Abnormal myelination OMIM:617333
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Absent antihelix, Protruding ear, Hearing impairment, Central hypothyroidism OMIM:300998
Dubowitz Syndrome
Low-set ears, Protruding ear, Otitis media, Hypocholesterolemia OMIM:223370
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Aicardi-Goutieres Syndrome 1
CNS demyelination, Hypothyroidism, Diabetes insipidus OMIM:225750
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Poems Syndrome
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficienc... ORPHA:2905
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Hypogonadotropic hypogonadism ORPHA:752
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Hypogonadism, Abnormality of iron h... ORPHA:231222
Cockayne Syndrome B
Anhidrosis, Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory evoked ... OMIM:133540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypothyroidism, Hypoalbuminemia OMIM:226300
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism ORPHA:1923
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Hearing impairment, Precociou... ORPHA:562
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Hashimoto thyroiditis... ORPHA:589
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination, EEG with multifocal slow activity, Optic atrophy, Hypsarrhythmia ORPHA:442835
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentration, Thyroidit... ORPHA:37042
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Hea... ORPHA:699
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Recurrent otitis media, Hypothyroidism, Thyroiditis OMIM:614700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Jung Syndrome
Hypothyroidism ORPHA:2321
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Thyroiditis, Hypocalcemic tetany, Hypothyroidism, Chronic otitis media ORPHA:83471
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Mixed hearing impairment, Conj... OMIM:620305
Alexander Disease
Diabetes mellitus, Facial palsy, Precocious puberty, Hyperhidrosis, EEG abnormality, Abnormal aut... ORPHA:58
Omenn Syndrome
Hypothyroidism, Thyroiditis ORPHA:39041
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty OMIM:615952
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism, Hearing impairment OMIM:613254
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363958
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Allan-Herndon-Dudley Syndrome
Delayed myelination, Abnormality of thyroid physiology ORPHA:59
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Abnormality of iron homeostasis, De... ORPHA:231226
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Posteriorly rotated ears, Thyroid agenesis, Abnormal antihelix morphology, Ec... ORPHA:3047
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Macrotia, Hypothyroidism ORPHA:457212
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Hypothyroidism, Low-set ears OMIM:607944
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Abnormal pineal melatonin secretion, Hypothyroidism, Hyp... ORPHA:69665
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Delayed CNS myelination, Posteriorly rotated ears, Thickened helices, Asymmetr... OMIM:607872
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Sensorineural hearing impairment, Protruding ear, Hyperhidrosis, Gray mat... ORPHA:453504
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Hypsarrhythmia, Central hypothyroidism OMIM:300912
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Sensorineural hearing impairment, Protruding ear, Hyperhidrosis, Gray mat... ORPHA:352665
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Adiposis Dolorosa
Hypothyroidism, Xerostomia ORPHA:36397
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Decreased response to growth hormone... ORPHA:444077
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Posteriorly rotated ears, Abnormal cortical gyration, Abnormality of thyroid physiology, Low-set ... OMIM:300968
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Streak ovary, Increased circulating gonadotropin level, Delaye... ORPHA:1772
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Smith-Lemli-Opitz Syndrome
Posteriorly rotated ears, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentratio... OMIM:270400
White-Kernohan Syndrome
Low-set ears, Recurrent otitis media, Macrotia, Hypothyroidism, Simple ear OMIM:619426
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Aganglionic megacolon, Optic atrophy, Overfolded helix, Hypo... ORPHA:567
Scleromyxedema
Abnormality of thyroid physiology, Abnormality of central nervous system electrophysiology, Eleva... ORPHA:167635
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Hypothyroidism, Hearing impairment ORPHA:1052
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:606367
Maternal Uniparental Disomy Of Chromosome 2
Elevated amniotic fluid alpha-fetoprotein, Hypothyroidism, Decreased response to growth hormone s... ORPHA:96179
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Abnormality of iron homeostasis, De... ORPHA:231214
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
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
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus OMIM:606593
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism OMIM:304790
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Microphthalmia, Syndromic 6
Delayed CNS myelination, Female hypogonadism, Posteriorly rotated ears, Adrenal hypoplasia, Uplif... OMIM:607932
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... ORPHA:466768
Whipple Disease
Hyponatremia, Hypothyroidism ORPHA:3452
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... ORPHA:249
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Absence of pub... ORPHA:398079
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Aicardi-Goutières Syndrome
Diabetes mellitus, Low-set ears, Leukodystrophy, Hypothyroidism, Demyelinating peripheral neuropathy ORPHA:51
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hypothyroidism, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Microtia, Hypothyroidism OMIM:190685
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Maternal diabetes ORPHA:280200
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... OMIM:619325
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microtia, Hypothyroidism, Low-set ears, Exocrine pancreatic insufficiency OMIM:620005
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Charge Syndrome
Hypoparathyroidism, Mixed hearing impairment, Hypogonadotropic hypogonadism, Decreased response t... OMIM:214800
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Lingual thyroid OMIM:606519
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Abnormal autonomic nervous system physiology ORPHA:93256
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, EEG abnormali... ORPHA:1606
Schinzel-Giedion Syndrome
Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Central hypothyroidism, Hypsarrhy... ORPHA:798
Gabriele-De Vries Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Delayed myelinat... ORPHA:506358
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Leprechaunism
Hyperinsulinemia, Central hypothyroidism, Protruding ear, Hypokalemia, Hyperaldosteronism, Increa... ORPHA:508
Beckwith-Wiedemann Syndrome
Otosclerosis, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ad... ORPHA:116
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Xerostomia, Ab... ORPHA:398069
Microphthalmia, Syndromic 2
Posteriorly rotated ears, Asymmetry of the ears, Anteverted ears, Sensorineural hearing impairmen... OMIM:300166
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Interstitial Lung And Liver Disease
Hypothyroidism, Intraalveolar phospholipid accumulation, Hyperammonemia OMIM:615486
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Macrogyria, Abnormal myelination ORPHA:280210
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Hypopituitarism, Hypothyroidism ORPHA:30391
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Delayed myelination, Hypothyroidism OMIM:615846
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
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism OMIM:618005
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Elevated circulating creatinine concentration ORPHA:247691
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Ab... OMIM:188400
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Hyperlipidemia, Abnormality of thyroid physiology ORPHA:1830
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Familial Adenomatous Polyposis
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... ORPHA:733
Rothmund-Thomson Syndrome Type 1
Calcinosis, Hypogonadism, Hypothyroidism ORPHA:221008
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Stüve-Wiedemann Syndrome
Hypohidrosis, Hyperhidrosis, Abnormal autonomic nervous system physiology, Ectopic thyroid, Hypot... ORPHA:3206
Cockayne Syndrome Type 3
Optic disc pallor, Demyelinating peripheral neuropathy, Adult onset sensorineural hearing impairm... ORPHA:90324
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr... OMIM:107480
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Decreased serum iron, Abnormality of the endocrine system, Precocious puberty,... ORPHA:438213
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism ORPHA:2519
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Calcification of the auricular cartilage, Elev... OMIM:259050
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus, Abnormality of iron homeostasis ORPHA:84064
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Hyperthyroidism, Low-set ears OMIM:170390
Williams Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circula... ORPHA:904
Townes-Brocks Syndrome
External ear malformation, Abnormal tragus morphology, Microtia, Delayed puberty, Overfolded heli... ORPHA:857
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria, Hypothyroidism, Hearing impairment OMIM:606170
Kabuki Syndrome 1
Posteriorly rotated ears, Premature thelarche, Protruding ear, Congenital hypothyroidism, Low-set... OMIM:147920
Immunodeficiency 31C
Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Phace Syndrome
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Reduced blood urea nitrogen, Hypophosphatemia, Hypohidrosis, Hyp... OMIM:219800
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Doors Syndrome
Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, EEG abnormality, Atresia of the ex... ORPHA:79500
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Acrocardiofacial Syndrome
Hyperthyroidism, Low-set ears ORPHA:2008
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism OMIM:191100
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Hallermann-Streiff Syndrome
Hypothyroidism ORPHA:2108
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Sensorineural hearing impairment, Early onset of sexual maturat... OMIM:194050
Johanson-Blizzard Syndrome
Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Senso... OMIM:243800
Ring Chromosome 13 Syndrome
Macrotia, Posteriorly rotated ears, Primary hypothyroidism ORPHA:96176
Sotos Syndrome
Aganglionic megacolon, Hypercalcemia, Conductive hearing impairment, Hypothyroidism, Chronic otit... ORPHA:821
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Delayed myelination, Optic atrophy, Decreased LDL cholesterol concentration, E... ORPHA:404454
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Facial palsy, Abnormality of the adrenal glan... ORPHA:797
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism ORPHA:1556
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Congenital hypothyroidism, Conductive hearing i... ORPHA:709
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Thyroiditis, Primary hypothyroidism, Delayed puberty, Type I... ORPHA:391487
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:3455
Viss Syndrome
Exostosis of the external auditory canal, Posteriorly rotated ears, Cupped ear, Low-set ears, Mac... OMIM:619472
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Degcags Syndrome
Abnormal myelination, Posteriorly rotated ears, Hearing impairment, Sensorineural hearing impairm... OMIM:619488
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma ORPHA:276399
Alström Syndrome
Abnormal vestibular function, Optic disc pallor, Hypertriglyceridemia, Precocious puberty in fema... ORPHA:64
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism ORPHA:93357
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Abnormal myelination, Periventricular heterotopia ORPHA:434179
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Anterior pituita... ORPHA:2255

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 Hpn

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 Hpn.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A conditional knockout resource for the genome-wide study of mouse gene function. Nature (June 2011) Hpntm1a(KOMP)Wtsi PMC3572410

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hpntm199258(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hpntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hpntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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