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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Pendred Syndrome
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... OMIM:274600
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Fetal Iodine Syndrome
Hypothyroidism, Sensorineural hearing impairment ORPHA:1910
Wolfram-Like Syndrome
Optic atrophy, Male hypogonadism, Congenital sensorineural hearing impairment, Central diabetes i... ORPHA:411590
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... OMIM:620198
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... OMIM:609698
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, CNS hypomyelination, Abnormal motor evoked potentials, Abnor... ORPHA:320401
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism, Hearing impairment OMIM:228355
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... ORPHA:705
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hearing impairment, Transient neonatal diabetes mellitus, H... ORPHA:99886
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Allan-Herndon-Dudley Syndrome
Prominent antihelix, Stahl ear, Elevated circulating thyroid-stimulating hormone concentration, L... OMIM:300523
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... OMIM:274300
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hearing impairment ORPHA:401830
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism 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
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Progressive hearing impairment, Decreased serum testosterone concentratio... ORPHA:453533
Gne Myopathy
Hypothyroidism, Mildly elevated creatine kinase, Facial palsy ORPHA:602
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia, Sensorineural hearing impairment, Elevated circulating phytanic... OMIM:266510
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Male hypogonadism, Hypothyroidism OMIM:618625
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Potocki-Lupski Syndrome
Hearing impairment, Hypocholesterolemia, Hypothyroidism, EEG abnormality, Delayed myelination OMIM:610883
Chromosome 1P35 Deletion Syndrome
Hearing impairment, Congenital hypothyroidism, Anterior creases of earlobe, Sensorineural hearing... OMIM:617930
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Conductive hearing impairment ORPHA:85179
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Sensorineural hearing impairment, Increased circulating renin level OMIM:619406
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Congenital hypothyroidism ORPHA:96183
Congenital Disorder Of Glycosylation, Type Ii
Low-set ears, Sensorineural hearing impairment, Hypothyroidism, Hypsarrhythmia, Delayed CNS myeli... OMIM:607906
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hearing impairment, Sensorineural hearing impairment, Hypothyroidism, Delayed puberty, Delayed my... OMIM:616817
Squalene Synthase Deficiency
Low-set ears, Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating ... OMIM:618156
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Foxp1 Syndrome
Hypoplastic helices, Decreased circulating iron concentration, Recurrent otitis media, Hypothyroi... ORPHA:391372
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase ORPHA:663
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Progressive hearing impairment, Hypogonadotropi... OMIM:616113
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Neonatal hyperbilirubinemia, Hypothyroidis... ORPHA:3363
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Hypothyroidism, Delayed puberty, Microtia ORPHA:2994
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Hearing impairment, Delayed CNS myelination, Hypothyroidism, Posteriorly rotated ears OMIM:617763
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Increased circulating free T4 concentration, Impaired sens... OMIM:188570
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Type II lissencephaly, Dysgyria, Gray matter heterotopia, Abnormal myelination ORPHA:352682
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Li-Campeau Syndrome
Low-set ears, Hypothyroidism OMIM:619189
Isolated Atp Synthase Deficiency
Optic atrophy, Hypogonadism, Hyperammonemia, Sensorineural hearing impairment, Hypothyroidism, Hy... ORPHA:254913
Wolfram Syndrome 1
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Hypothyroidism, Testicular a... OMIM:222300
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Low-set ears, Hypothyroidism, Elevated circulating amyloid A concentration, Elevated circulating ... OMIM:619750
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Delayed CNS myelinatio... OMIM:616881
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, CNS hypomyelination, Sensorineural hearing impairment, Delay... OMIM:619260
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Abnormal pinna morphology, Large fleshy ears ORPHA:352530
Reni Syndrome
Hypoalbuminemia, Hypogonadism, Adrenal insufficiency, Sensorineural hearing impairment, Hypothyro... OMIM:617575
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Severe demyelination of the white matter, Sensorineural hearing impairment, Hypothyroidism, Delay... ORPHA:391408
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Low-set ears OMIM:608776
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Per... OMIM:609136
Atelis Syndrome 1
Hypothyroidism, Glue ear, Microtia OMIM:620184
Intellectual Disability-Strabismus Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Decreased response to growth hormone st... ORPHA:363528
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Hypoalbuminemia, Decreased circulating T4 concentration, Elevated circulating creat... OMIM:608104
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
CNS hypomyelination, Hearing impairment, Decreased response to growth hormone stimulation test, P... OMIM:618922
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism OMIM:616784
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
B4Galt1-Cdg
Low-set ears, Decreased LDL cholesterol concentration, Hypothyroidism, Elevated circulating creat... ORPHA:79332
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Hypothyroidism, Hypsarrhythmia OMIM:301058
Morgagni-Stewart-Morel Syndrome
Vertigo, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Hypogonadism, Sensorineural hearing impairment, Hypothyroidism, Diabetes mellitus,... ORPHA:98673
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abetalipoproteinemia, Sensorineural hearing impairment, Elevated circulating... ORPHA:96180
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hearing impairment, Abnormal motor evoked potentials, Hypogonadism, Del... ORPHA:412057
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hashimoto thyroiditis, Hyponatremia, Hypothyroidism, Abnormal autonomic nervous system ph... ORPHA:83601
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Hypothyroidism, Decreased thyroid-stimulating hormone level OMIM:275100
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Asymmetry of the ears, Sensorineural hearing impairment, Hypothyroidism, Delayed CN... OMIM:617796
Combined Oxidative Phosphorylation Deficiency 33
EEG with burst suppression, Elevated circulating creatine kinase concentration, Hypothyroidism, S... OMIM:617713
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
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
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cowden Syndrome 5
Thyroid adenoma, Hearing impairment, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615108
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Reduced radioactive io... ORPHA:95715
Hawkinsinuria
Abnormal circulating tyrosine concentration, Hypothyroidism ORPHA:2118
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hypothyroidism, Hy... OMIM:619147
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... OMIM:240300
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Sensorineural hearing impairment OMIM:600430
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Exocrine pancreatic insufficiency, Sensorineural heari... ORPHA:456312
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased nerve ... ORPHA:101085
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
19P13.12 Microdeletion Syndrome
Low-set ears, Precocious puberty, Conductive hearing impairment, Hyperlipidemia, Sensorineural he... ORPHA:254346
Cowden Syndrome 6
Thyroid adenoma, Hearing impairment, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615109
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Incr... ORPHA:90673
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... OMIM:613038
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Hearing impairment, Increased circula... OMIM:174800
Nabais Sa-De Vries Syndrome, Type 2
Low-set ears, Protruding ear, Hypothyroidism, Posteriorly rotated ears, Microtia OMIM:618829
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Laron Syndrome
Hypercholesterolemia ORPHA:633
Smith-Magenis Syndrome
Precocious puberty, Conductive hearing impairment, Hypothyroidism, Delayed puberty, Hypercholeste... ORPHA:819
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Monosomy 18P
Protruding ear, Hypothyroidism, Abnormal antihelix morphology, Macrotia ORPHA:1598
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, Hypothyroidism, Hypercholesterolemia, EEG abnor... ORPHA:2479
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, CNS hypomyelination, Hypomagnesemia OMIM:619908
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypothyroidism, Hypoalbuminemia OMIM:618347
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone OMIM:614450
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Elevated circulating acylcarnitine concentration, Hyperammonemia, Sensorineural he... OMIM:616878
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, CNS demyeli... ORPHA:206448
4H Leukodystrophy
Optic atrophy, Decreased response to growth hormone stimulation test, Abnormality of thyroid phys... ORPHA:289494
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Hypothyroidism, Sensorineural hearing impairment ORPHA:85321
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Hypothyroidism, Absent brainstem auditory respon... ORPHA:79330
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Hearing impairment OMIM:300623
Oculoskeletodental Syndrome
Hypothyroidism, Hypercalcemia, Hearing impairment, Hypocalcemia OMIM:618440
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Ohdo Syndrome, Sbbys Variant
Low-set ears, Hypothyroidism, Posteriorly rotated ears, Hearing impairment OMIM:603736
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Hypothyroidism, Conductive hearing impairm... OMIM:609053
Fucosidosis
Hypothyroidism, Hyperhidrosis, Hearing impairment ORPHA:349
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Neonatal hyperbilirubinemia, Microtia, Absent antihelix ORPHA:293939
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis OMIM:241850
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypoalbuminemia, Hypothyroidism, Hypertriglyceridemia OMIM:619013
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Mildly elevated creatine kinase, Elevat... ORPHA:95433
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Decreased response to growth hormone stimulation test, Hypothyroidism, Delayed puberty, Progressi... OMIM:619234
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Cowden Syndrome 1
Thyroid adenoma, Hearing impairment, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:158350
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Recurrent otitis media, Type I diabetes mellitus, Hypothyroidism OMIM:620430
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Dilated Cardiomyopathy With Ataxia
Bilateral sensorineural hearing impairment, Optic atrophy, Hypothyroidism, Elevated circulating g... ORPHA:66634
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:618183
Seckel Syndrome 7
Central hypothyroidism, Microtia OMIM:614851
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Optic atrophy, 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
Hypothyroidism, Hearing impairment, Transient hyperphenylalaninemia ORPHA:98808
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Delayed CNS myelination, Simplified gyral pattern OMIM:619609
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Cenani-Lenz Syndrome
Protruding ear, Hypothyroidism, Hearing impairment ORPHA:3258
Rabson-Mendenhall Syndrome
Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypokalemia, H... ORPHA:769
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Hypothyroidism, Hyperthyroidism, Diabetes mellitus, Macrotia ORPHA:449291
Alstrom Syndrome
Progressive sensorineural hearing impairment, Insulin-resistant diabetes mellitus, Decreased HDL ... OMIM:203800
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Hypocalcemia, Hashimoto thyroiditis, Hypothyroidism, Th... ORPHA:64744
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Bilateral Polymicrogyria
Low-set ears, Central hypothyroidism, Facial diplegia, Abnormal glossopharyngeal nerve morphology... ORPHA:268940
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
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
Congenital hypothyroidism, Bilateral sensorineural hearing impairment, Delayed myelination, Thyro... ORPHA:521445
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, Diabetes insipi... ORPHA:95496
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hypocholesterolemia, Macrotia, Hypoalbuminemia OMIM:212065
Silver-Russell Syndrome Due To A Point Mutation
Low-set ears, Hypothyroidism ORPHA:397590
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Low-set ears, Type I diabetes mellitus, Hashimoto thyroiditis, Hypothyroidism, Posteriorly rotate... OMIM:613385
Melas
Optic atrophy, Type I diabetes mellitus, Mixed demyelinating and axonal polyneuropathy, Type II d... ORPHA:550
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Optic atrophy, Hyperammonemia, Elevated circula... ORPHA:480864
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimu... OMIM:101800
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hypokalemia, Increased circulating T4 concentration, Increased circulating free T4 concen... OMIM:613239
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia OMIM:256300
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... OMIM:103580
Mosaic Variegated Aneuploidy Syndrome 2
Low-set ears, Hearing impairment, Decreased response to growth hormone stimulation test, Hypothyr... OMIM:614114
Monosomy 18Q
Secondary growth hormone deficiency, Bilateral conductive hearing impairment, Sensorineural heari... ORPHA:1600
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Sensorineural hearing impairment, Hyponatremia, Abnormal pi... ORPHA:79324
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Sensorineural hearing impairment, Hypothyroidism, Diabe... OMIM:616541
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:612885
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Hypothyroidism, Delayed pube... OMIM:616263
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Abnormal cortical gyration, Congenital hypothyroidism, Palmoplantar ... OMIM:617527
Ddost-Cdg
CNS hypomyelination, Primary hypothyroidism ORPHA:300536
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Elevated circulating creatine kinase concentration, Hypothyroidism, Highly elevate... OMIM:251900
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... ORPHA:300298
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Tbck-Related Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Abnormal circulating lipid concentration, Decreased... ORPHA:488632
Neuhauser Syndrome
Cupped ear, Large fleshy ears, Primary hypothyroidism, Delayed CNS myelination, Hypercholesterolemia OMIM:249310
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Hearing impairment, Abnormality of peripheral nerve conduction,... ORPHA:90321
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Stenosis of the external auditory canal, C... OMIM:601427
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine p... ORPHA:1667
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Goiter, Facial diplegia, Elevated circulating creatine kinase concentration, ... ORPHA:254892
Cystinosis
Type I diabetes mellitus, Hypokalemia, Hypophosphatemia, Hypothyroidism, Delayed puberty, Nephrog... ORPHA:213
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulati... OMIM:610199
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... ORPHA:209905
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypogon... ORPHA:465508
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 42
EEG with generalized epileptiform discharges, EEG with occipital slowing, Polymicrogyria, EEG wit... OMIM:616973
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Progressive sensorineural hearing impairme... OMIM:620186
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hearing impairment, Abnormality of exocrine pancreas physiology, Hyperuricemia, Hypothyroidism, A... ORPHA:93111
Martin-Probst Syndrome
Low-set ears, Hypothyroidism, Sensorineural hearing impairment OMIM:300519
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Ring Chromosome 12 Syndrome
Low-set ears, Hypothyroidism, Microtia ORPHA:1439
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Hypocholesterolemia, Abnormal pinna morphology OMIM:244450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Hypothyroidism, Hypohidrosis ORPHA:1812
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulating thyroid-s... ORPHA:226313
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia, Hypohidrosis ORPHA:1563
Lymphatic Malformation 6
Abnormal pinna morphology, Hypothyroidism, Cupped ear, Hearing impairment OMIM:616843
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... ORPHA:2905
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Delayed CNS myelination, Hypothyroidism, Acute pancreatitis OMIM:619487
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Hypothyroidism, Abnormal autonomic nervous system ... ORPHA:453499
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Hypogonadism, Decreased nerve conduction velo... OMIM:216400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:614700
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Hypothyroidism, Chronic otitis media, Thyroiditis ORPHA:83471
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration OMIM:603373
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Low-set, posteriorly rotated ears, Type I diabetes mellitus, Hypothyroidism, Thyroiditis ORPHA:228426
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Koolen-De Vries Syndrome
Protruding ear, Overfolded helix, Hypothyroidism ORPHA:96169
Secondary Short Bowel Syndrome
Central hypothyroidism, Primary hypothyroidism, Aganglionic megacolon, Low plasma citrulline, Abn... ORPHA:95427
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hearing impairment, Increased circulating prolactin concentration, Hyperthyroidism, Optic disc pa... ORPHA:502423
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Trichohepatoneurodevelopmental Syndrome
Low-set ears, Recurrent otitis media, Exocrine pancreatic insufficiency, Increased serum bile aci... OMIM:618268
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:133540
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Protruding ear, Central hypothyroidism, Hearing impairment, Absent antihelix OMIM:300998
Immunodeficiency 102
Hypothyroidism OMIM:301082
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Dubowitz Syndrome
Low-set ears, Hypocholesterolemia, Protruding ear, Otitis media OMIM:223370
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Hearing impairment, Increased circulating prolactin concentration, Elevated circ... OMIM:617675
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Abnormal myelination OMIM:617333
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypothyroidism, Hypoproteinemia OMIM:226300
Aicardi-Goutieres Syndrome 1
Hypothyroidism, CNS demyelination, Diabetes insipidus OMIM:225750
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Beta-Thalassemia Intermedia
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Elevated hepatic iron concentration, Hypopar... ORPHA:231222
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland ORPHA:1923
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Hearing impairment, Increased circulati... ORPHA:562
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr... ORPHA:37042
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Myasthenia Gravis
Hearing impairment, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnorm... ORPHA:589
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Abnormal myelination, Hypsarrhythmia, EEG with multifocal slow activity ORPHA:442835
Pearson Syndrome
Hearing impairment, Hypomagnesemia, Decreased response to growth hormone stimulation test, Exocri... ORPHA:699
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
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Polymicrogyria, Decreased circulating ACTH c... OMIM:620305
Alexander Disease
Precocious puberty, Hypothyroidism, Hyperhidrosis, Abnormal autonomic nervous system physiology, ... ORPHA:58
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology, Delayed myelination ORPHA:59
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Dominant Beta-Thalassemia
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Abno... ORPHA:231226
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism, Hearing impairment OMIM:613254
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Optic atrophy, Hearing impairment, Recurrent otitis media, Decreased response... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Optic atrophy, Hearing impairment, Recurrent otitis media, Decreased response... ORPHA:363958
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Type I diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:615952
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Hypothyroidism, Abnormal pineal melatonin secretion, Increased serum bile aci... ORPHA:69665
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Recurrent otitis media, Hypothyroidism OMIM:607944
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Abnormal antihelix morphology, Posteriorly rotated ears, Hypothyroidism, Thyroid ag... ORPHA:3047
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism, Macrotia ORPHA:457212
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cupped ear, Hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears,... ORPHA:444077
Adiposis Dolorosa
Hypothyroidism, Xerostomia ORPHA:36397
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Sensorineural hearing impairment, Protruding ear, Hypothyroidism, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, Protruding ear, Hypothyroidism, ... ORPHA:352665
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Central hypothyroidism, Macrotia OMIM:300912
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Optic disc colobo... OMIM:607872
45,X/46,Xy Mixed Gonadal Dysgenesis
Hearing impairment, Recurrent otitis media, Low-set, posteriorly rotated ears, Decreased serum te... ORPHA:1772
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Mend Syndrome
Low-set ears, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal auditory evoked ... ORPHA:401973
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Abnormal cortical gyration, Hearing impairment, Abnormality of thyroid physiology, ... OMIM:300968
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Low-set ears, Hearing impairment, Recurrent otitis media, Hypocholesterolemia, E... OMIM:270400
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
White-Kernohan Syndrome
Low-set ears, Recurrent otitis media, Simple ear, Hypothyroidism, Macrotia OMIM:619426
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
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
22Q11.2 Deletion Syndrome
Low-set ears, Small earlobe, Optic atrophy, Conductive hearing impairment, Hearing impairment, Hy... ORPHA:567
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism OMIM:304790
Beta-Thalassemia Major
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Abno... ORPHA:231214
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Elevated amniotic fluid alpha-fetoprotein,... ORPHA:96179
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus OMIM:606593
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
CNS hypomyelination, Hearing impairment, Decreased response to growth hormone stimulation test, P... ORPHA:268261
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Microphthalmia, Syndromic 6
Low-set ears, Hearing impairment, Anterior hypopituitarism, Protruding ear, Hypothyroidism, Delay... OMIM:607932
Whipple Disease
Hyponatremia, Hypothyroidism ORPHA:3452
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hearing impairment, Mixed demyelinating and axonal polyneuropathy, Abnormal motor nerve conductio... ORPHA:466768
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Hearing impairment, Hypercal... ORPHA:249
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Xerostomia, Central hypothyroidi... ORPHA:398079
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Aicardi-Goutières Syndrome
Low-set ears, Leukodystrophy, Hypothyroidism, Demyelinating peripheral neuropathy, Diabetes mellitus ORPHA:51
Beckwith-Wiedemann Syndrome
Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Exocrine pancreatic insufficiency,... ORPHA:116
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Down Syndrome
Aganglionic megacolon, Hypothyroidism, Conductive hearing impairment, Microtia OMIM:190685
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hypothyroidism, Reduced haptoglobin level OMIM:613673
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Microform Holoprosencephaly
Panhypopituitarism, Hypothyroidism, Maternal diabetes ORPHA:280200
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Low-set ears, Hypothyroidism, Exocrine pancreatic insufficiency, Microtia OMIM:620005
Coffin-Siris Syndrome 12
Low-set ears, Prominent antihelix, Large earlobe, Sensorineural hearing impairment, Protruding ea... OMIM:619325
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Phace Association
Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Horner syndrome, Optic nerve hypoplasia OMIM:606519
Bardet-Biedl Syndrome
Hearing impairment, Low-set, posteriorly rotated ears, Hypogonadism, Type II diabetes mellitus, O... ORPHA:110
Charge Syndrome
Low-set ears, Cupped ear, Aplasia/Hypoplasia of the thymus, Parathyroid hypoplasia, Decreased res... OMIM:214800
1P36 Deletion Syndrome
Optic atrophy, Conductive hearing impairment, Low-set, posteriorly rotated ears, Hypogonadism, Se... ORPHA:1606
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Abnormal autonomic nervous system physiology ORPHA:93256
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Central hypothyroidism, La... ORPHA:798
Gabriele-De Vries Syndrome
Low-set ears, Decreased response to growth hormone stimulation test, Posteriorly rotated ears, Hy... ORPHA:506358
Leprechaunism
Low-set ears, Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Protruding ear, Hypok... ORPHA:508
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:1855
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Graves disease, Hypomagnesemia, Transient hypophosphatemia, Hyperhidrosis, ... ORPHA:79102
Microphthalmia, Syndromic 2
Cupped ear, Adrenal insufficiency, Asymmetry of the ears, Sensorineural hearing impairment, Hypot... OMIM:300166
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Xerostomia, Central hypothyroidism, Hypogonadism, Abse... ORPHA:398069
Interstitial Lung And Liver Disease
Hypothyroidism, Intraalveolar phospholipid accumulation, Hyperammonemia OMIM:615486
Isolated Biliary Atresia
Hypopituitarism, Hypothyroidism, Conjugated hyperbilirubinemia ORPHA:30391
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Delayed myelination, Increased circulating ferritin concentration OMIM:615846
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Semilobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93924
Pelizaeus-Merzbacher Disease, Connatal Form
Pachygyria, Cerebral hypomyelination, Abnormal myelination 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
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Digeorge Syndrome
Low-set ears, Parathyroid hypoplasia, Recurrent otitis media, Hypocalcemia, Parathyroid agenesis,... OMIM:188400
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Abnormality of thyroid physiology, Pancreatitis ORPHA:1830
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Abnormality of the thyroid gland, Hypothyroidism, Pancreatitis, Papill... ORPHA:733
Stüve-Wiedemann Syndrome
Hypothyroidism, Hypohidrosis, Hyperhidrosis, Abnormal autonomic nervous system physiology, Ectopi... ORPHA:3206
Cockayne Syndrome Type 3
Conductive hearing impairment, Abnormality of peripheral nerve conduction, Demyelinating peripher... ORPHA:90324
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Townes-Brocks Syndrome 1
Stahl ear, Lop ear, Satyr ear, Sensorineural hearing impairment, Hypothyroidism, Overfolding of t... OMIM:107480
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Decreased circulating iron concentration, Increased circulating prolactin con... ORPHA:438213
Down Syndrome
Conductive hearing impairment, Type II diabetes mellitus, Aganglionic megacolon, Delayed puberty,... ORPHA:870
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism ORPHA:2519
Alkaptonuria
Prostatitis, Hypothyroidism, Hearing abnormality ORPHA:56
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Hypothyroidism, Calcinosis ORPHA:221008
Kabuki Syndrome 1
Low-set ears, Hearing impairment, Recurrent otitis media, Congenital hypothyroidism, Protruding e... OMIM:147920
Williams Syndrome
Precocious puberty, Abnormal circulating lipid concentration, Low-set, posteriorly rotated ears, ... ORPHA:904
Syndromic Diarrhea
Hypoplasia of the thymus, Hypothyroidism, Abnormality of iron homeostasis ORPHA:84064
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus OMIM:614162
Primrose Syndrome
Hearing impairment, Hypothyroidism, Delayed puberty, Hypergonadotropic hypogonadism, Superiorly d... OMIM:259050
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Hyperthyroidism, Hypokalemia OMIM:170390
Genitopatellar Syndrome
Pachygyria, Hypothyroidism, Periventricular heterotopia, Hearing impairment OMIM:606170
Townes-Brocks Syndrome
Hearing impairment, Abnormal tragus morphology, Hypothyroidism, Delayed puberty, Overfolded helix... ORPHA:857
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Hypomagnesemia, Exocrine pancre... OMIM:219800
Phace Syndrome
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Polymicrogyria, Pancreatitis, Hypsarrhythmia, Abnormal CNS myelination, Abnormal myelination, Pos... OMIM:620371
Hallermann-Streiff Syndrome
Hypothyroidism ORPHA:2108
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Acrocardiofacial Syndrome
Low-set ears, Hyperthyroidism ORPHA:2008
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Doors Syndrome
Low-set ears, Optic atrophy, Atresia of the external auditory canal, Polymicrogyria, Congenital h... ORPHA:79500
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism OMIM:191100
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hypocalcemia, Primary hypothyroidism, Sensorineural hearing im... OMIM:243800
Ring Chromosome 13 Syndrome
Posteriorly rotated ears, Macrotia, Primary hypothyroidism ORPHA:96176
Williams-Beuren Syndrome
Recurrent otitis media, Large earlobe, Hypercalcemia, Early onset of sexual maturation, Sensorine... OMIM:194050
Sotos Syndrome
Conductive hearing impairment, Hearing impairment, Cholesteatoma, Aganglionic megacolon, Hypothyr... ORPHA:821
Sarcoidosis
Parotitis, Abnormality of the adrenal glands, Hypothyroidism, Facial palsy, Hyperthyroidism, Diab... ORPHA:797
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Hypotriglyceridemia, Decreased LDL cholesterol concentration, EEG abnormality, Opt... ORPHA:404454
Peters Plus Syndrome
Optic atrophy, Microtia, second degree, Conductive hearing impairment, Low-set, posteriorly rotat... ORPHA:709
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism ORPHA:1556
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Primary hypothyroidism, Delayed puberty, Abnormality of the endocrine s... ORPHA:391487
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Abnormality of thyroid physiology, Hypophosphatemia ORPHA:411629
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Optic atrophy, CNS hypomyelination, Increased circulating prolactin concentration, ... ORPHA:3455
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... ORPHA:309854
Viss Syndrome
Low-set ears, Cupped ear, Exostosis of the external auditory canal, Hypothyroidism, Posteriorly r... OMIM:619472
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Degcags Syndrome
Low-set ears, Hearing impairment, Hyperbilirubinemia, Unilateral conductive hearing impairment, S... OMIM:619488
Alström Syndrome
Abnormal vestibular function, Precocious puberty in females, Progressive sensorineural hearing im... 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, Congenital hypot... ORPHA:2255