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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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Pendred Syndrome
Thyroid carcinoma, Increased circulating thyroglobulin concentration, Abnormal vestibular functio... OMIM:274600
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Thyroid Hormone Metabolism, Abnormal, 3
Decreased circulating selenium concentration, Increased circulating free T3, Abnormal thyroid-sti... OMIM:620198
Fetal Iodine Syndrome
Hypothyroidism, Sensorineural hearing impairment ORPHA:1910
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Central diabetes insipidus, Male hypogonadism, Abnormal pinna mor... ORPHA:411590
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Fetal Iodine Deficiency Disorder
Hearing impairment, Congenital goiter, Congenital hypothyroidism OMIM:228355
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pendred Syndrome
Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot... ORPHA:705
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Demyelinating motor neuropathy, Sensorineural hearing impairment, Demyelinating peripheral neurop... OMIM:617519
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hearing impairment, Hyp... ORPHA:99886
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Underfolded superior helices, Sta... OMIM:300523
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Autosomal Recessive Spastic Paraplegia Type 69
Hearing impairment, Abnormal myelination ORPHA:401830
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,... ORPHA:95716
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency OMIM:262700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Gne Myopathy
Hypothyroidism, Facial palsy, Mildly elevated creatine kinase ORPHA:602
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:607453
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Sensorineural hearing impairment, Steatorrhea, ... OMIM:266510
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Demyelinating peripheral neurop... ORPHA:453533
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Recurrent otitis media, Male hypogonadism OMIM:618625
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Potocki-Lupski Syndrome
Hypocholesterolemia, Hearing impairment, Hypothyroidism, Delayed myelination, EEG abnormality OMIM:610883
Chromosome 1P35 Deletion Syndrome
Sensorineural hearing impairment, Congenital hypothyroidism, Hearing impairment, Posteriorly rota... OMIM:617930
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Goiter, Hypothyroidism OMIM:617577
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Abnormal myelination ORPHA:85179
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Congenital hypothyroidism ORPHA:96183
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Congenital Disorder Of Glycosylation, Type Ii
Hypsarrhythmia, Sensorineural hearing impairment, Low-set ears, Hypothyroidism, Delayed CNS myeli... OMIM:607906
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Sensorineural hearing impairment, Hearing impairment, Macrotia, Delayed myelinat... OMIM:616817
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase ORPHA:663
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Low-set ears, Elevated circulating methylsuccinic a... OMIM:618156
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Foxp1 Syndrome
Hypoplastic helices, Recurrent otitis media, Hypothyroidism, Decreased circulating iron concentra... ORPHA:391372
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Anterior pituitary hypoplasia, Central hypothyroidism, Elevated h... OMIM:616113
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Neonatal hyperbilirubinemi... ORPHA:3363
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating thyroglobulin concentration, Goiter, Increas... OMIM:188570
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Microtia, Hypothyroidism, Low-set, posteriorly rotated ears ORPHA:2994
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Hearing impairment, Hypothyroidism, Posteriorly rotated ears, Delayed CNS myelination OMIM:617763
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Dysgyria, Type II lissencephaly, Gray matter heterotopia, Abnormal myelination ORPHA:352682
Isolated Atp Synthase Deficiency
Optic atrophy, Sensorineural hearing impairment, Hyperalaninemia, Hypothyroidism, Hyperammonemia,... ORPHA:254913
Li-Campeau Syndrome
Hypothyroidism, Low-set ears OMIM:619189
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Low-set ears, Hypothyroidism, Posteriorly ... OMIM:619750
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Hearing impairment, Hypothyr... OMIM:222300
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Leukodystrophy, Delaye... OMIM:616881
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Delayed CNS myelination, C... OMIM:619260
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Reni Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment, Hypothyroidism, Hypogonadism, Hypoalbumin... OMIM:617575
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Abnormal pinna morphology, Large fleshy ears, Congenital hypothyroidism ORPHA:352530
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Sensorineural hearing impairment, Delayed myelination, Macrotia, Hypothyroidism,... ORPHA:391408
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral hypomyelination, Cerebral dysmyelination, Decreased nerve conduction velocity, Agangli... OMIM:609136
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Low-set ears OMIM:608776
Atelis Syndrome 1
Hypothyroidism, Microtia, Glue ear OMIM:620184
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Hypothyroidism, Decreased circulating T4 concentration, Hypoalbuminemia, Elevated c... OMIM:608104
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Low-set ears, Diff... ORPHA:363528
B4Galt1-Cdg
Hypothyroidism, Decreased LDL cholesterol concentration, Low-set ears, Elevated circulating creat... ORPHA:79332
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Interictal epileptiform activity, Panhypop... OMIM:618922
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Vertigo, Hypothyroidism, Abnormality of the t... ORPHA:77296
Developmental And Epileptic Encephalopathy 90
Hypsarrhythmia, Hypothyroidism, EEG with burst suppression OMIM:301058
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Hypothyroidism, Hypo... ORPHA:98673
Maternal Uniparental Disomy Of Chromosome 4
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Abetalipopr... ORPHA:96180
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Delayed menarche, Hearing impairment, Hypothyroidism, Type II diabetes mellitus, Hy... ORPHA:412057
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased circu... OMIM:144650
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Type I diabetes mellitus, Primary gonadal insufficiency, Abnorm... ORPHA:1227
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration OMIM:275100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, Hyponatremia... ORPHA:83601
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Sensorineural hearing impairment, EEG with burst suppression, Elevated circulatin... OMIM:617713
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Low-set ears, Hypothyroidism, Delayed CNS myelination, Asymmetr... OMIM:617796
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Abnormal circulat... ORPHA:95715
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, EEG abnormality OMIM:613970
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
Thyroiditis, Hearing impairment, Hypothyroidism, Thyroid adenoma, Hyperthyroidism, Goiter OMIM:615108
Hawkinsinuria
Hypothyroidism, Abnormal circulating tyrosine concentration ORPHA:2118
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Sensorineural hearing impairment, Increased serum pyruvate, Hyperalaninemia, Hypothyroidism, Cong... OMIM:619147
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Hypothyroidism, Primary adrenal insufficiency, Decreased... OMIM:240300
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Sensorineural hearing impairment OMIM:600430
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Decreased sensory nerve conduction velocity, Sensorineural hearing impairment, F... ORPHA:456312
Charcot-Marie-Tooth Disease Type 1F
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:101085
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Hyperlipidemia, Hypoth... ORPHA:254346
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Cowden Syndrome 6
Thyroiditis, Hearing impairment, Hypothyroidism, Thyroid adenoma, Hyperthyroidism, Goiter OMIM:615109
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Potocki-Shaffer Syndrome
Delayed puberty, Hypothyroidism ORPHA:52022
Mccune-Albright Syndrome
Hearing impairment, Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating ... OMIM:174800
Nabais Sa-De Vries Syndrome, Type 2
Microtia, Low-set ears, Hypothyroidism, Posteriorly rotated ears, Protruding ear OMIM:618829
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Laron Syndrome
Hypercholesterolemia ORPHA:633
Smith-Magenis Syndrome
Chronic otitis media, Delayed puberty, Hypertriglyceridemia, Hypothyroidism, Conductive hearing i... ORPHA:819
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Monosomy 18P
Protruding ear, Macrotia, Hypothyroidism, Abnormal antihelix morphology ORPHA:1598
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Hypothyroidism, Protruding ear, EEG abnormality, Hypercholester... ORPHA:2479
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Galloway-Mowat Syndrome 6
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test OMIM:618347
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Premature pubarche, Sensorineural hearing impairment, Elevated circulating creatin... OMIM:616878
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, CNS hypomyelination, Hypomagnesemia OMIM:619908
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism OMIM:614450
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Adult Krabbe Disease
CNS demyelination, Delayed brainstem auditory evoked response conduction time, EEG abnormality, P... ORPHA:206448
4H Leukodystrophy
Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit... ORPHA:289494
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism, Sensorineural hearing impairment, Low-set ears ORPHA:85321
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Inappropriate antidiuretic hormone secretion, Ab... ORPHA:79330
Oculoskeletodental Syndrome
Hearing impairment, Hypercalcemia, Hypothyroidism, Hypocalcemia OMIM:618440
Fragile X Tremor/Ataxia Syndrome
Hearing impairment, Hypothyroidism OMIM:300623
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Ohdo Syndrome, Sbbys Variant
Hearing impairment, Hypothyroidism, Posteriorly rotated ears, Low-set ears OMIM:603736
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Fanconi Anemia, Complementation Group I
Hypothyroidism, Conductive hearing impairment, Optic nerve hypoplasia, Decreased response to grow... OMIM:609053
Fucosidosis
Hearing impairment, Hyperhidrosis, Hypothyroidism ORPHA:349
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypoalbuminemia, Hypothyroidism, Hypertriglyceridemia OMIM:619013
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Absent antihelix, Microtia, Neonatal hyperbilirubinemia ORPHA:293939
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Elevated circulating alpha-fetoprotein concentration, Mildly e... ORPHA:95433
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr... OMIM:614736
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Delayed puberty, Progressive hearing impairment, Hypothyroidism, Decreased response to growth hor... OMIM:619234
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Cowden Syndrome 1
Thyroiditis, Hearing impairment, Hypothyroidism, Thyroid adenoma, Hyperthyroidism, Goiter OMIM:158350
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Hypothyroidism, Type I diabetes mellitus, Recurrent otitis media OMIM:620430
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Hypothyroidism, Bilateral sensorineural hearing impairment, Elevated circulating g... ORPHA:66634
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Seckel Syndrome 7
Central hypothyroidism, Microtia OMIM:614851
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:324737
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Autosomal Dominant Dopa-Responsive Dystonia
Hearing impairment, Hypothyroidism, Transient hyperphenylalaninemia ORPHA:98808
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Hypokalemia, CNS demyelination, Macrotia, Hypothyroidism, Pre... ORPHA:769
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Simplified gyral pattern, Delayed CNS myelination OMIM:619609
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Cenani-Lenz Syndrome
Hearing impairment, Protruding ear, Hypothyroidism ORPHA:3258
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Hypothyroidism, Macrotia, Hyperthyroidism, Diabetes mellitus ORPHA:449291
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Dystonia 28
Hypothyroidism, Precocious puberty ORPHA:589618
Igg4-Related Thyroid Disease
Euthyroid goiter, Hypocalcemia, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Bilateral Polymicrogyria
Abnormal glossopharyngeal nerve morphology, Sensorineural hearing impairment, Facial diplegia, Lo... ORPHA:268940
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Bilater... ORPHA:3464
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Progressive hearing impairment ORPHA:514
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Bilateral sensorineural hearing impairment, Thyroid hypoplasia, Congenital hypothyroidism, Delaye... ORPHA:521445
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Septo-optic dysplasia, Abnormality of th... ORPHA:95496
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Sensorineural hearing impairment, Elevated circulating creatine kinase concentrati... ORPHA:480864
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Low-set ears ORPHA:397590
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Macrotia, Hypocholesterolemia OMIM:212065
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Low-set ears, Hypothyroidism, Hashimoto thyroiditis, Posteriorly rotated ears, Type I diabetes me... OMIM:613385
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Melas
Optic atrophy, Hypoparathyroidism, Sensorineural hearing impairment, Hypothyroidism, Mixed demyel... ORPHA:550
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Elevated circulating thyroid-stimulating hormone concentration, Elevated circulati... OMIM:101800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,... OMIM:613239
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Hypocal... OMIM:103580
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Low-set ears, Round ear, Hearing impairmen... OMIM:614114
Monosomy 18Q
Sensorineural hearing impairment, Bilateral conductive hearing impairment, Hypothyroidism, Macrot... ORPHA:1600
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Sensorineural hearing impairment, Hypothyroidism, Simpl... OMIM:616541
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated... OMIM:612885
Alg12-Cdg
Sensorineural hearing impairment, Abnormal pinna morphology, Hyponatremia, Hypoalbuminemia, Hypoc... ORPHA:79324
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Sensorineural hearing impairment, Demyelinating peripheral neuropathy, Hypothyro... OMIM:616263
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Hypothyroidism, Highly elevated creatine kinase, Elevated circulating creatine kin... OMIM:251900
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... ORPHA:909
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism,... ORPHA:300298
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Increased circu... OMIM:218700
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Abnormal cortical gyration, Low-set ears, Congenital hypothyroidism, Delayed myeli... OMIM:617527
Ddost-Cdg
Primary hypothyroidism, CNS hypomyelination ORPHA:300536
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Central hypothyroidism, Hyperammonemia, Hypothyroidism, Hyponatremia, Exocrin... ORPHA:1667
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Neuhauser Syndrome
Primary hypothyroidism, Large fleshy ears, Delayed CNS myelination, Hypercholesterolemia, Cupped ear OMIM:249310
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Hypohidrosis, I... ORPHA:90321
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
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
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Facial palsy, Elevated circulating creatine kinase concentration, Hearing impair... ORPHA:254892
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating thyroglobul... OMIM:610199
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Cystinosis
Delayed puberty, Hypokalemia, Nephrogenic diabetes insipidus, Hypothyroidism, Hypophosphatemia, T... ORPHA:213
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Sensorineural... ORPHA:209905
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Aplasia of the thymus, Microtia, Bilateral conductive hearing impairmen... OMIM:620186
Intellectual Developmental Disorder, Autosomal Dominant 42
EEG with temporal sharp slow waves, EEG with burst suppression, Hypsarrhythmia, Sensorineural hea... OMIM:616973
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Testicular atrophy... ORPHA:465508
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Hyperuricemia, Abnormality of exocrine pancreas phy... ORPHA:93111
Martin-Probst Syndrome
Hypothyroidism, Sensorineural hearing impairment, Low-set ears OMIM:300519
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Ring Chromosome 12 Syndrome
Hypothyroidism, Microtia, Low-set ears ORPHA:1439
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypohidrosis, Hypothyroidism, Low-set ears ORPHA:1812
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypoparathyroidism, Hypocalcemia, Hypohidrosis ORPHA:1563
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Abnormal pinna morphology, Low-set ears OMIM:244450
Lymphatic Malformation 6
Hearing impairment, Abnormal pinna morphology, Hypothyroidism, Cupped ear OMIM:616843
Poems Syndrome
Abnormality of the endocrine system, Hypothyroidism, Papilledema, Primary adrenal insufficiency, ... ORPHA:2905
Aicardi-Goutieres Syndrome 9
Optic atrophy, Acute pancreatitis, Hypothyroidism, Delayed CNS myelination, Hypoalbuminemia OMIM:619487
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Gray matter heterotopia, Abnormal autonomic nervous system physiology,... ORPHA:453499
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Hyperthyroidism, Familial Gestational
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Recurrent otitis media OMIM:614700
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Thyroiditis, Hypothyroidism, Hypocalcemic tetany, Aplasia of the thymus ORPHA:83471
Secondary Short Bowel Syndrome
Aganglionic megacolon, Primary hypothyroidism, Central hypothyroidism, Abnormal blood ion concent... ORPHA:95427
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hearing impairment, Hyperthyroidism, Mildly elevated creatine kinase, Increased circulating prola... ORPHA:502423
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Low-set, posteriorly rotated ears ORPHA:228426
Koolen-De Vries Syndrome
Protruding ear, Hypothyroidism, Overfolded helix ORPHA:96169
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Familial Glucocorticoid Deficiency
Hyperkalemia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidi... ORPHA:361
Trichohepatoneurodevelopmental Syndrome
Recurrent otitis media, Increased serum bile acid concentration, Low-set ears, Simple ear, Hypoth... OMIM:618268
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Hearing impairment, Absent antihelix, Protruding ear, Central hypothyroidism OMIM:300998
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Myopathy, Mitochondrial, And Ataxia
Hearing impairment, Increased circulating prolactin concentration, Hyperthyroidism, Elevated circ... OMIM:617675
Immunodeficiency 102
Hypothyroidism OMIM:301082
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Dubowitz Syndrome
Protruding ear, Hypocholesterolemia, Low-set ears, Otitis media OMIM:223370
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism, Hypoalbuminemia, Hypoproteinemia OMIM:226300
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Abnormal myelination ORPHA:289266
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Abnormal myelination OMIM:617333
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating thyroglobul... ORPHA:226316
Aicardi-Goutieres Syndrome 1
CNS demyelination, Hypothyroidism, Diabetes insipidus OMIM:225750
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Hypogonadotropic hypogonadism ORPHA:752
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hypoparathyroidism, Hypothyroidism, Elevated hepatic iron concen... ORPHA:231222
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland ORPHA:1923
Mccune-Albright Syndrome
Pancreatitis, Increased serum testosterone level, Hearing impairment, Precocious puberty, Hyperth... ORPHA:562
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Hypocalcemia, Thyroiditis, Decreased circulating prealbumin ... ORPHA:37042
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
Myasthenia Gravis
Hearing impairment, Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Abnorm... ORPHA:589
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypokalemia, Hypocalce... ORPHA:699
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Abnormal myelination ORPHA:442835
Neurooculorenal Syndrome
Mixed hearing impairment, Decreased circulating ACTH concentration, Sensorineural hearing impairm... OMIM:620305
Jung Syndrome
Hypothyroidism ORPHA:2321
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Omenn Syndrome
Hypothyroidism, Thyroiditis ORPHA:39041
Alexander Disease
Facial palsy, Abnormal autonomic nervous system physiology, Hypothyroidism, Precocious puberty, H... ORPHA:58
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Dominant Beta-Thalassemia
Delayed puberty, Abnormality of iron homeostasis, Hypoparathyroidism, Hypothyroidism, Hypopituita... ORPHA:231226
Allan-Herndon-Dudley Syndrome
Delayed myelination, Abnormality of thyroid physiology ORPHA:59
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion, Hyperbilirubinemia, Increased serum bile aci... ORPHA:69665
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Tuberous Sclerosis 2
Hearing impairment, Precocious puberty, Hypothyroidism OMIM:613254
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media, Int... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media, Int... ORPHA:363958
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:615952
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Recurrent otitis media, Low-set ears OMIM:607944
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Abnormal antihelix morphology, Thyroid hypoplasia, Low-set ears, Hypothyroidism... ORPHA:3047
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism, Macrotia ORPHA:457212
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Mixed hearing impairment, Decreased response to growth hormone stimulation test, Low-set, posteri... ORPHA:444077
Adiposis Dolorosa
Hypothyroidism, Xerostomia ORPHA:36397
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Sensorineural hearing impairment, Optic nerve hypoplasia, Gray matter heterotopia, Hypothyroidism... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Sensorineural hearing impairment, Optic nerve hypoplasia, Gray matter heterotopia, Hypothyroidism... ORPHA:352665
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Central hypothyroidism OMIM:300912
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Hypsarrhythmia, Polymicrogyria, Microtia, Sensorineural hearing impairment, Low-se... OMIM:607872
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Mend Syndrome
Low-set ears, Elevated 8(9)-cholestenol, Abnormal auditory evoked potentials, Elevated 8-dehydroc... ORPHA:401973
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Abnormal cortical gyration, Low-set ears, Hearing impairment, ... OMIM:300968
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Recurrent otitis media, Low-set, posteriorly rotated ears, Hearing impairment, H... ORPHA:1772
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Low-set ears, Elevated circulating 7-dehydrocholesterol concentration, He... OMIM:270400
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Mosaic Variegated Aneuploidy Syndrome
Hearing impairment, Hypothyroidism, Low-set, posteriorly rotated ears ORPHA:1052
White-Kernohan Syndrome
Recurrent otitis media, Low-set ears, Hypothyroidism, Macrotia, Simple ear OMIM:619426
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Elevated amniotic fluid al... ORPHA:96179
22Q11.2 Deletion Syndrome
Chronic otitis media, Optic atrophy, Aganglionic megacolon, Hypoparathyroidism, Hypocalcemia, Sma... ORPHA:567
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus OMIM:606367
Autoimmune Polyendocrine Syndrome, Type Ii
Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Hyperthyroidism... OMIM:269200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Beta-Thalassemia Major
Delayed puberty, Abnormality of iron homeostasis, Hypoparathyroidism, Hypothyroidism, Hypopituita... ORPHA:231214
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Type I diabetes mellitus OMIM:304790
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus OMIM:606593
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Posterior pituitary hypoplasia, Abnormalit... ORPHA:268261
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Whipple Disease
Hypothyroidism, Hyponatremia ORPHA:3452
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Adrenal hypoplasia, Low-set ears, Female hypogonadism, Hearing impairme... OMIM:607932
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Decreased distal sensory nerve action potential, Hearing impairment, Abnormality of peripheral so... ORPHA:466768
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Hyperpitui... ORPHA:249
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Abnormality of th... ORPHA:95712
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398079
Beckwith-Wiedemann Syndrome
Abnormal earlobe morphology, Otosclerosis, Hearing impairment, Pseudohypoparathyroidism, Posterio... ORPHA:116
Aicardi-Goutières Syndrome
Demyelinating peripheral neuropathy, Low-set ears, Hypothyroidism, Diabetes mellitus, Leukodystrophy ORPHA:51
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Vertigo, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insuf... ORPHA:91347
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Down Syndrome
Hypothyroidism, Conductive hearing impairment, Microtia, Aganglionic megacolon OMIM:190685
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal my... ORPHA:67045
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Microform Holoprosencephaly
Hypothyroidism, Maternal diabetes, Panhypopituitarism ORPHA:280200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Microtia, Low-set ears, Exocrine pancreatic insufficiency OMIM:620005
Coffin-Siris Syndrome 12
Protruding ear, Sensorineural hearing impairment, Low-set ears, Facial palsy, Hypothyroidism, Pos... OMIM:619325
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Hypokalemia OMIM:188580
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Aganglionic megacolon, Low-set, po... ORPHA:110
Phace Association
Optic atrophy, Optic nerve hypoplasia, Congenital hypothyroidism, Lingual thyroid, Horner syndrome OMIM:606519
Charge Syndrome
Delayed puberty, Mixed hearing impairment, Decreased response to growth hormone stimulation test,... OMIM:214800
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Hyp... ORPHA:1606
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Abnormal autonomic nervous system physiology ORPHA:93256
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, Abnormal helix morphology, Lo... ORPHA:798
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Low-set ears, Hypothyroidism, Delayed myel... ORPHA:506358
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Hypophosphatemia, Hypocalc... ORPHA:411634
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Leprechaunism
Hyperinsulinemia, Hypokalemia, Low-set ears, Increased circulating renin level, Central hypothyro... ORPHA:508
Microphthalmia, Syndromic 2
Sensorineural hearing impairment, Anteverted ears, Hypothyroidism, Posteriorly rotated ears, Adre... OMIM:300166
Interstitial Lung And Liver Disease
Hypothyroidism, Hyperammonemia, Intraalveolar phospholipid accumulation OMIM:615486
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398069
Isolated Biliary Atresia
Hypopituitarism, Hypothyroidism, Conjugated hyperbilirubinemia ORPHA:30391
Aicardi-Goutieres Syndrome 7
Delayed myelination, Increased circulating ferritin concentration, Hypothyroidism OMIM:615846
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia ORPHA:534
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:424
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... ORPHA:93924
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Pachygyria, Cerebral hypomyelination ORPHA:280210
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism OMIM:618005
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Compensated hypothyroidism ORPHA:247691
Digeorge Syndrome
Recurrent otitis media, Hypocalcemia, Low-set ears, Abnormality of the middle ear, Hypoplasia of ... OMIM:188400
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Abnormality of thyroid physiology, Pancreatitis ORPHA:1830
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Familial Adenomatous Polyposis
Pancreatitis, Thyroiditis, Neoplasm of the adrenal gland, Papillary thyroid carcinoma, Hypothyroi... ORPHA:733
Stüve-Wiedemann Syndrome
Abnormal autonomic nervous system physiology, Hypohidrosis, Hypothyroidism, Hyperhidrosis, Ectopi... ORPHA:3206
Cockayne Syndrome Type 3
Demyelinating peripheral neuropathy, Adult onset sensorineural hearing impairment, Macrotia, Cond... ORPHA:90324
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Delayed myelination, Hypothyroidism, Precocious puberty, Dec... ORPHA:438213
Townes-Brocks Syndrome 1
Sensorineural hearing impairment, Microtia, Stahl ear, Macrotia, Hypothyroidism, Lop ear, Satyr e... OMIM:107480
Down Syndrome
Delayed puberty, Aganglionic megacolon, Round ear, Conductive hearing impairment, Hyperthyroidism... ORPHA:870
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism ORPHA:2519
Alkaptonuria
Hypothyroidism, Hearing abnormality, Prostatitis ORPHA:56
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Calcinosis, Hypogonadism ORPHA:221008
Kabuki Syndrome 1
Recurrent otitis media, Low-set ears, Premature thelarche, Hearing impairment, Macrotia, Congenit... OMIM:147920
Williams Syndrome
Chronic otitis media, Abnormal circulating lipid concentration, Low-set, posteriorly rotated ears... ORPHA:904
Syndromic Diarrhea
Hypothyroidism, Abnormality of iron homeostasis, Hypoplasia of the thymus ORPHA:84064
Primrose Syndrome
Superiorly displaced ears, Delayed puberty, Calcification of the auricular cartilage, Hypergonado... OMIM:259050
Immunodeficiency 31C
Delayed puberty, Diabetes mellitus, Hypothyroidism OMIM:614162
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Hyperthyroidism, Hypokalemia OMIM:170390
Genitopatellar Syndrome
Hearing impairment, Periventricular heterotopia, Hypothyroidism, Pachygyria OMIM:606170
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Cystinosis, Nephropathic
Delayed puberty, Male hypogonadism, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nit... OMIM:219800
Townes-Brocks Syndrome
Delayed puberty, Abnormal tragus morphology, Abnormal pinna morphology, Microtia, Hearing impairm... ORPHA:857
Phace Syndrome
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Pancreatitis, Hypsarrhythmia, Polymicrogyria, Posteriorly rotated ears,... OMIM:620371
Hallermann-Streiff Syndrome
Hypothyroidism ORPHA:2108
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Acrocardiofacial Syndrome
Low-set ears, Hyperthyroidism ORPHA:2008
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Doors Syndrome
Optic atrophy, Polymicrogyria, Low-set ears, Congenital hypothyroidism, Atresia of the external a... ORPHA:79500
Tuberous Sclerosis 1
Hypothyroidism, Precocious puberty OMIM:191100
Johanson-Blizzard Syndrome
Primary hypothyroidism, Sensorineural hearing impairment, Hypocalcemia, Increased VLDL cholestero... OMIM:243800
Ring Chromosome 13 Syndrome
Primary hypothyroidism, Macrotia, Posteriorly rotated ears ORPHA:96176
Williams-Beuren Syndrome
Recurrent otitis media, Sensorineural hearing impairment, Hypothyroidism, Early onset of sexual m... OMIM:194050
Sotos Syndrome
Chronic otitis media, Aganglionic megacolon, Hearing impairment, Conductive hearing impairment, H... ORPHA:821
Sarcoidosis
Abnormality of the adrenal glands, Diabetes insipidus, Parotitis, Facial palsy, Hypothyroidism, H... ORPHA:797
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Hypotriglyceridemia, Delayed myelination, Decreased LDL cholesterol concentration,... ORPHA:404454
Peters Plus Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Anterior hypopituitarism, Microtia, second degr... ORPHA:709
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism ORPHA:1556
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Thyroiditis, Type I... ORPHA:391487
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... ORPHA:309854
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Abnormality of thyroid physiology, Hypophosphatemia, Hypokalemia ORPHA:411629
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Recur... ORPHA:3455
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Viss Syndrome
Exostosis of the external auditory canal, Low-set ears, Hypothyroidism, Macrotia, Posteriorly rot... OMIM:619472
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Degcags Syndrome
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Hyperbilirubinemia, L... OMIM:619488
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased r... ORPHA:64
Sponastrime Dysplasia
Hypothyroidism, Precocious puberty ORPHA:93357
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Low-set, posteriorly rotated ears, Abnormal myelination ORPHA:434179
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, 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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