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Gene: Lrpap1 MGI:96829

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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:
low density lipoprotein receptor-related protein associated protein 1
Synonyms:
RAP

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 Lrpap1 mutations

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

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

The table below shows human diseases associated to Lrpap1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopia 23, Autosomal Recessive
OMIM:615431

The table below shows human diseases predicted to be associated to Lrpap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Attention deficit hyperactivity disorder, Goiter, Increased circul... OMIM:188570
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T3, Abnormal thyroid-stimulating hormone level, Abnormal circulating f... OMIM:620198
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Perineal hypospadias, Microphallus, Corpus cavernosum hypoplas... OMIM:615542
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Nephroblastoma, Goiter OMIM:180295
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Papillary thyroid carcinoma, Papillary renal cell carcinoma, Nodular goit... ORPHA:97290
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Diminished ability to concentrate, Cent... OMIM:301033
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Abnormality of the upper urinary ... ORPHA:411590
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Papillary renal cell carcinoma, Nodular goiter, Follicular thyroid c... ORPHA:319487
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nephritis, Renal insufficiency ORPHA:3327
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency OMIM:262700
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Nephropathy, Hyperparathyroidism ORPHA:705
Glutaric Aciduria Iii
Goiter, Glutaric aciduria, Hyperthyroidism OMIM:231690
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Blepharochalasis And Double Lip
Goiter OMIM:109900
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Hyper... OMIM:275000
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Thyrocerebroretinal Syndrome
Goiter, Nephritis OMIM:274240
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreased circulating T4... OMIM:618573
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:424
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Confusion, Goiter ORPHA:83601
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Hyperthyroidism, Familial Gestational
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hypothyroidism, Nephrotic syndro... ORPHA:85445
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Hypothyroidism, Nephrotic s... OMIM:617575
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Hawkinsinuria
Hypothyroidism, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated ur... OMIM:171400
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem... ORPHA:99886
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi... ORPHA:226316
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... OMIM:616784
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Pituitary ad... ORPHA:163634
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Hypogonadism, Cryptorchidi... ORPHA:3363
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism OMIM:619927
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat... OMIM:620211
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Cryptorchidism, Hypogonadotropic hypogonadism, Abnormality of the urethra ORPHA:752
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Cognitive impairment ORPHA:2349
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Reduced radioacti... ORPHA:95715
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Mccune-Albright Syndrome
Pancreatitis, Increased serum testosterone level, Renal phosphate wasting, Renal tubular dysfunct... ORPHA:562
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Congenital nephrotic syndrome, Hypothyroidism, Renal tubular atrophy, Prote... OMIM:256300
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Potocki-Shaffer Syndrome
Delayed puberty, Nephroblastoma, Hypothyroidism, Micropenis ORPHA:52022
Thyroid Hemiagenesis
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating free T3, Th... ORPHA:95719
4H Leukodystrophy
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph... ORPHA:289494
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:218700
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615109
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Thyrotoxicosis with diffus... ORPHA:525731
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Focal segmental glomerulosclerosis, Hypoth... OMIM:618347
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration OMIM:275100
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism OMIM:614450
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Memory impairment, Cognitive impairment, Hypothyroidism, Abn... ORPHA:77296
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, De... OMIM:614736
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Decreased testicular size, Elevated circulating follicle... OMIM:612885
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Nephropathy, Hypothyroidism, Hypohidrosis, Renal insufficiency ORPHA:1563
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Congenital hypothyroidism, Proteinuria, Diffuse mesangial scler... OMIM:619609
Cowden Syndrome 7
Ductal carcinoma in situ, Goiter, Papillary thyroid carcinoma, Hashimoto thyroiditis OMIM:616858
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Dystonia 28
Attention deficit hyperactivity disorder, Precocious puberty, Hypothyroidism ORPHA:589618
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Ovarian carc... OMIM:158350
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism OMIM:618625
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Nephrotic syndrome, Membranous nephropathy OMIM:618999
Gne Myopathy
Hypothyroidism ORPHA:602
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Adrenal hypop... OMIM:146510
Cystinosis
Delayed puberty, Nephropathy, Nephrogenic diabetes insipidus, Hypothyroidism, Proteinuria, Type I... ORPHA:213
Neurodevelopmental Disorder With Language Delay And Seizures
Attention deficit hyperactivity disorder, Cryptorchidism, Hypothyroidism OMIM:619908
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Fetal pyelectasis OMIM:301058
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Abnormality of th... ORPHA:95712
Foxp1 Syndrome
Abnormality of the kidney, Short attention span, Hypothyroidism, Attention deficit hyperactivity ... ORPHA:391372
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Familial Multinodular Goiter
Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Renal cell carcinoma, Multinodular goit... ORPHA:276399
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Cognitive impairment, Glycos... ORPHA:411629
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Abnormality of endocrine pancreas physiology, Aplasia/Hypopl... ORPHA:93111
Li-Campeau Syndrome
Hypothyroidism, Cryptorchidism, Micropenis OMIM:619189
Fragile X Tremor/Ataxia Syndrome
Urinary incontinence, Memory impairment, Hypothyroidism, Dementia, Mental deterioration OMIM:300623
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Hypoplasia of penis ORPHA:2491
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism ORPHA:96183
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis, Diabetes mellitus ORPHA:3198
Methimazole Embryofetopathy
Hypothyroidism, Hypospadias, Abnormality of the thyroid gland ORPHA:1923
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Thyroid hypoplasia, Hypothyroidism, Cryptorchidism, Thyroid dysgenesis, Ectopic... ORPHA:3047
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel... OMIM:222300
Atelis Syndrome 1
Attention deficit hyperactivity disorder, Hypothyroidism OMIM:620184
Autosomal Dominant Progressive External Ophthalmoplegia
Cognitive impairment, Hypothyroidism, Nocturia, Hyperthyroidism, Goiter, Diabetes mellitus ORPHA:254892
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Female hypogonadism, Hypothyroidism, Primary adrenal insuffic... OMIM:240300
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Hypothyroidism, Renal hypoplasia, Renal dysplasia, Cryptorchidism, Renal ins... ORPHA:85321
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur... ORPHA:653
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Minimal change glomerulonephritis, Nephrotic ran... ORPHA:1830
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormality of the kidney, Renal cell carcinoma,... ORPHA:201
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Hypothyroidism ORPHA:2994
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Memory impairment, Delayed menarche, Cognitive impairment, Hypothyroidism, Type II ... ORPHA:412057
Autosomal Dominant Optic Atrophy, Classic Form
Cognitive impairment, Hypothyroidism, Hypogonadism, Dementia, Diabetes mellitus ORPHA:98673
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Hypospadias, Bilateral cryptorchidism, Hyp... ORPHA:96179
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Hypothyroidism, ... ORPHA:411634
Familial Glucocorticoid Deficiency
Renal salt wasting, Recurrent urinary tract infections, Decreased circulating dehydroepiandroster... ORPHA:361
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated urinary epinephrine level, Elevated circulating calcitonin concentrati... OMIM:162300
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Thyroid hypoplasia, Nephrolithiasis, Congenital hypothyroidism ORPHA:521445
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Renal hypoplasia, Cryptorchidism, Hypothyroidism OMIM:616817
Potocki-Lupski Syndrome
Hypothyroidism, Abnormal renal morphology OMIM:610883
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Isolated Atp Synthase Deficiency
Hypothyroidism, 3-Methylglutaconic aciduria, Renal hypoplasia, Hypogonadism ORPHA:254913
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology, Cryptorchidism ORPHA:59
Adiposis Dolorosa
Hypothyroidism, Xerostomia, Memory impairment ORPHA:36397
Familial Adenomatous Polyposis
Pancreatitis, Thyroiditis, Neoplasm of the adrenal gland, Papillary thyroid carcinoma, Hypothyroi... ORPHA:733
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Microphallus, Hypothyroidism, Attention deficit hyperactivity disorder, Cryptorchidism ORPHA:397590
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Vesicoureteral ... OMIM:609053
Omenn Syndrome
Hypothyroidism, Thyroiditis, Nephrotic syndrome ORPHA:39041
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Cognitive impairment, Hypothyroidism, Progressive neurologic deterioration, Hy... ORPHA:90065
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Exocrine pancreatic insufficiency, Chronic kidney disease... ORPHA:1667
Ddost-Cdg
Primary hypothyroidism, Nephrotic range proteinuria ORPHA:300536
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Hypothyroidism, Nephrocalcinosis, Renal insufficiency ORPHA:445038
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Polycystic ovaries, Premature thelarche ORPHA:371428
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hypothyroidism, Hyperthyroidism, Attention deficit hyperactivity disorder, ... ORPHA:449291
Smith-Magenis Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Precocious puberty, Hypothy... ORPHA:819
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Congenital hypothyroi... OMIM:601427
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Diabetes mellitus, Hypospadias, Congenital hypothyroidism OMIM:614613
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Decreased testicular size, Type I diabetes... OMIM:616113
Jung Syndrome
Hypothyroidism ORPHA:2321
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Mild proteinuria, Renal insufficiency OMIM:619147
Melas
Hypoparathyroidism, Memory impairment, Proximal tubulopathy, Recurrent pancreatitis, Short attent... ORPHA:550
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Acute pancreatitis... OMIM:619487
Beta-Thalassemia Intermedia
Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Hypothyroidism, Hypogonadism, Diabetes ... ORPHA:231222
Short Stature, Microcephaly, And Endocrine Dysfunction
Ectopic kidney, Unilateral renal agenesis, Cognitive impairment, Hypothyroidism, Renal hypoplasia... OMIM:616541
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Memory impairment, Cognitive impairment, Proteinuria, Progressive neurologi... ORPHA:247691
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Cryptorchidism, Decreased circulating T4 concentration OMIM:608104
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Multicystic kidney dysplasia OMIM:618829
Myasthenia Gravis
Glycosuria, Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Abnormal thymu... ORPHA:589
Martin-Probst Syndrome
Renal insufficiency, Hypoplastic nipples, Hypothyroidism, Chordee, Proteinuria, Cryptorchidism, M... OMIM:300519
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Medullary nephrocalcinosis, H... ORPHA:363528
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Oculoskeletodental Syndrome
Hypercalciuria, Hypothyroidism, Mucopolysacchariduria, Renal agenesis, Cryptorchidism OMIM:618440
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Fragile X-Associated Tremor/Ataxia Syndrome
Memory impairment, Pollakisuria, Urinary bladder sphincter dysfunction, Hypothyroidism, Dementia ORPHA:93256
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Urinary retention, Thyrotoxicosis with diffuse g... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism OMIM:607906
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome OMIM:617713
Autoimmune Polyendocrine Syndrome, Type Ii
Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Type II diabete... OMIM:269200
Tuberous Sclerosis 1
Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Hypothyroidism, Precocious puberty, Attention... OMIM:191100
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Diabetes mellitus, Hypothyroidism ORPHA:391408
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism OMIM:600430
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Renal d... ORPHA:96169
Fucosidosis
Hypothyroidism, Mucopolysacchariduria, Hyperhidrosis ORPHA:349
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, 3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Stage 5 chronic kidney diseas... OMIM:219800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Lig4 Syndrome
Hypothyroidism, Cryptorchidism, Micropenis, Type II diabetes mellitus OMIM:606593
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:293939
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasi... ORPHA:2166
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Type I diabetes mellitus, Glomerulonephritis OMIM:304790
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:615952
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Hypothyroidism, Type I diabetes mellitus OMIM:620430
Lig4 Syndrome
Hypothyroidism, Cryptorchidism, Type II diabetes mellitus, Hypoplasia of penis ORPHA:99812
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Delayed puberty, Recurrent urinary tract infections, Decreased response to growth hormone stimula... OMIM:619234
Immunodeficiency 102
Hypothyroidism OMIM:301082
Monosomy 18P
Hypothyroidism ORPHA:1598
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism, Cryptorchidism, Bilateral cryptorchidism OMIM:617796
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Tuberous Sclerosis 2
Adenoma sebaceum, Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal ... OMIM:613254
19P13.12 Microdeletion Syndrome
Hypothyroidism, Cryptorchidism, Precocious puberty, Hypospadias ORPHA:254346
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Hypoplasia of penis, Bilateral cryptorchidism, Hypothyroidism, Perin... ORPHA:66634
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Abnormality of thyroid physiology, Unilateral breast hypoplasia, Hydronephrosis OMIM:300968
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Thyroiditis, Xerostomia, Abnormalit... ORPHA:79078
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Oliguria ORPHA:514
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Cenani-Lenz Syndrome
Hypothyroidism, Renal hypoplasia/aplasia, Crossed fused renal ectopia ORPHA:3258
Microform Holoprosencephaly
Maternal diabetes, Hypoplasia of penis, Panhypopituitarism, Hypothyroidism, Renal agenesis ORPHA:280200
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Timothy Syndrome
Hypothyroidism OMIM:601005
Dysbetalipoproteinemia
Hypothyroidism, Renal steatosis, Diabetes mellitus, Acute pancreatitis ORPHA:412
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Enlarged kidney, Pancreatitis, Tubulointerstitial fibrosis, Thyroiditis, Nephrol... ORPHA:79259
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Neurogenic bladder, Cognitive impairment, ... ORPHA:488632
Stüve-Wiedemann Syndrome
Hypothyroidism, Hyperhidrosis, Ectopic thyroid, Hypohidrosis ORPHA:3206
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hypothyroidism, Hypohidrosis, Cryptorchidism, Supernumerary nipple ORPHA:1812
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Hematuria, Hypothyroidism, Proteinuria, Ch... ORPHA:1855
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Hypothyroidism, Renal d... OMIM:618183
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism, Hypothyroidism, Nephrotic syndr... OMIM:212065
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Thyroiditis, Hypothyroidism, Nephrotic syndrome, Hyperthyroi... ORPHA:37042
Ring Chromosome 12 Syndrome
Hypothyroidism, Breast hypoplasia, Cryptorchidism, Glandular hypospadias ORPHA:1439
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Myoglobinuria, Premature thelarche, Hypothyroidism, Ketonuria OMIM:616878
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas, Hypothyroidism, Exo... ORPHA:456312
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Hashimoto thyroiditis, Type I diabetes mellitus OMIM:613385
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Cryptorchidism, Hypospadias OMIM:603736
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Long penis, Hypothyroidism, Precocious puberty, Nephrocalcino... ORPHA:769
Poems Syndrome
Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency, Hypogonadism,... ORPHA:2905
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
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Supernumerary nipple, Micropenis, Congenital hypothyroidism ORPHA:2519
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased s... ORPHA:465508
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Cognitive impairment, Central hypothyroidism, Absence ... ORPHA:398069
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
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism, Displacement of the urethral meatus, Multicystic kidney dysplasia, Cognitive impa... ORPHA:1556
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
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus OMIM:606367
Isolated Biliary Atresia
Bile duct proliferation, Hypothyroidism, Atretic gallbladder, Hypopituitarism, Dark yellow urine ORPHA:30391
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism, Duplication of renal pelvis, Ureteral duplication ORPHA:457212
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Nephrocalcinosis OMIM:618005
Dominant Beta-Thalassemia
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231226
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Abnormality of the kidney, Epispadias, Increased circulating gonadotropin level,... ORPHA:1772
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:618922
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Thyroid hypoplasia, Unilateral renal agenesis, Hydronephrosis OMIM:308050
T-Cell Immunodeficiency With Thymic Aplasia
Hypothyroidism, Thyroiditis, Recurrent urinary tract infections, Aplasia of the thymus ORPHA:83471
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Neurooculorenal Syndrome
Unilateral renal agenesis, Decreased circulating ACTH concentration, Bilateral renal agenesis, Ce... OMIM:620305
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus OMIM:614700
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Hyperthyroidism OMIM:617675
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Polycystic kidney dysplasia, Panc... OMIM:610199
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Thyroiditis, Type I diabetes mellitus ORPHA:228426
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Lacticaciduria, Pancre... ORPHA:699
Bardet-Biedl Syndrome
Abnormality of the endocrine system, Hypoplasia of the ovary, Hypoplasia of penis, Neurogenic bla... ORPHA:110
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism ORPHA:95427
White-Kernohan Syndrome
Hydroureter, Hypothyroidism, Hydronephrosis, Attention deficit hyperactivity disorder, Horseshoe ... OMIM:619426
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Hyperthyroidism ORPHA:502423
Acrocardiofacial Syndrome
Cryptorchidism, Hypospadias, Hyperthyroidism, Hypoplasia of penis ORPHA:2008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Cryptorchidism ORPHA:453499
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Beta-Thalassemia Major
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231214
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... OMIM:620186
Pseudoxanthoma Elasticum
Hypothyroidism, Nephrocalcinosis ORPHA:758
Bilateral Polymicrogyria
Central hypothyroidism, Mental deterioration, Cognitive impairment ORPHA:268940
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Hypoplasia of penis, Thyroid hypoplasia, Hypoplasia of the thy... ORPHA:861
Pallister-Hall Syndrome
Hypospadias, Ectopic kidney, Unilateral renal agenesis, Pituitary hypothyroidism, Adrenal hypopla... ORPHA:672
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Abnormal pancreas morphology, Congenital megaureter, Hyper... ORPHA:116
Monosomy 18Q
Hypothyroidism, Micropenis, Secondary growth hormone deficiency, Bilateral cryptorchidism ORPHA:1600
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Recurren... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Recurren... ORPHA:363958
Mogs-Cdg
Hypothyroidism, Inappropriate antidiuretic hormone secretion, Hydrocele testis ORPHA:79330
Whipple Disease
Hypothyroidism ORPHA:3452
Interstitial Lung And Liver Disease
Hypothyroidism, Aminoaciduria OMIM:615486
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Micropenis, Hypospadias OMIM:613673
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Pancreatic fibrosis, Hypothyroidism, Exocrine pancreatic insufficiency, Diabetes... OMIM:616263
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Hypoplastic nipples, Hypothyroidism, Exocrine pancreatic insufficiency, Recurrent... OMIM:618268
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Down Syndrome
Delayed puberty, Type II diabetes mellitus, Hyperthyroidism, Renal hypoplasia/aplasia ORPHA:870
Alkaptonuria
Prostatitis, Black pigment gallstones, Nephrolithiasis, Hypothyroidism, Dark urine, Elevated urin... ORPHA:56
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Renal dysplasia, Hypoplasia of th... OMIM:188400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Hypospadias, Unilateral renal agenesis, Br... ORPHA:268261
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Tubulointerstitial fibrosis OMIM:607944
Cerebrotendinous Xanthomatosis
Progressive psychomotor deterioration, Cholelithiasis, Short attention span, Cognitive impairment... ORPHA:909
Alexander Disease
Hypothyroidism, Hyperhidrosis, Diabetes mellitus, Precocious puberty ORPHA:58
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Polycystic kidney dysplasia, Vesicoureteral refl... ORPHA:567
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Thyroiditis, Renal ... ORPHA:391487
Andersen Cardiodysrhythmic Periodic Paralysis
Hyperthyroidism OMIM:170390
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Hyperhidrosis, Cryptorchidism, Supernumera... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Hyperhidrosis, Cryptorchidism, Supernumera... ORPHA:352665
Syndromic Diarrhea
Hypothyroidism, Polycystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the thymus ORPHA:84064
Williams-Beuren Syndrome
Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recurrent urinary tract infection... OMIM:194050
Gabriele-De Vries Syndrome
Breast hypoplasia, Decreased response to growth hormone stimulation test, Hypothyroidism, Hydrone... ORPHA:506358
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Renal hypoplasia, Cryptorchidism, Exocrine pancreatic insufficiency OMIM:620005
Williams Syndrome
Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, Abnormal tubuloin... ORPHA:904
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Nephroblastoma, Multicystic kidney dysplasia ORPHA:1052
Rothmund-Thomson Syndrome Type 1
Attention deficit hyperactivity disorder, Cryptorchidism, Hypothyroidism, Hypogonadism ORPHA:221008
Lymphatic Malformation 6
Hypothyroidism, Hydrocele testis OMIM:616843
Immunodeficiency 31C
Delayed puberty, Diabetes mellitus, Hypothyroidism OMIM:614162
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the adrenal glands, Diabetes insipidus, Hypercalciuria, ... ORPHA:797
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Nephrotic syndrome OMIM:615846
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Vesicoureteral reflux, Hypoth... ORPHA:444077
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Small pituitary... OMIM:619503
Townes-Brocks Syndrome
Delayed puberty, Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Ves... ORPHA:857
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Hallermann-Streiff Syndrome
Hypothyroidism, Cryptorchidism ORPHA:2108
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Long penis, Hypercalciuria, Increased circulating renin level,... ORPHA:508
1P36 Deletion Syndrome
Abnormality of the kidney, Annular pancreas, Hypospadias, Hypoplasia of penis, Renal cyst, Hypoth... ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Vesicoureteral reflux, Nephrolithiasis, Hypothyroidism, Prec... ORPHA:438213
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Increased serum testosterone level, Hyposp... ORPHA:3455
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Primary hypothyroidism, Urogenital sinus anomaly, Abn... ORPHA:96176
Abetalipoproteinemia
Hypothyroidism ORPHA:14
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Hypothyroidism, Renal hypoplasia, Urethr... OMIM:107480
Sotos Syndrome
Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Hy... ORPHA:821
Aicardi-Goutières Syndrome
Hypothyroidism, Diabetes mellitus, Micropenis ORPHA:51
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Ureteral duplication, Anterior pituitary agenesis, ... ORPHA:2255
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Horse... OMIM:214800
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93924
Coffin-Siris Syndrome 12
Hypothyroidism, Cryptorchidism, Horseshoe kidney, Hypospadias OMIM:619325
Microphthalmia, Syndromic 2
Hypothyroidism, Cryptorchidism, Hypospadias, Adrenal insufficiency OMIM:300166
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Hyp... OMIM:607932
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Hypospadias, Congenital hypothyroidism, Hypothyroidism, Cryptorchidism OMIM:607872
Down Syndrome
Hypothyroidism OMIM:190685
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hypothyroidism, Hydronephrosis, Cryptorchidism, Micropenis OMIM:606170
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... ORPHA:64
Johanson-Blizzard Syndrome
Hypospadias, Primary hypothyroidism, Hypoplastic nipples, Cryptorchidism, Hypothyroidism, Urethro... OMIM:243800
Sponastrime Dysplasia
Hypothyroidism, Precocious puberty, Hypospadias ORPHA:93357
Primrose Syndrome
Delayed puberty, Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Hypergonadotropic hypo... OMIM:259050
Viss Syndrome
Hypothyroidism, Hydronephrosis OMIM:619472
Myopia 23, Autosomal Recessive
OMIM:615431

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 Lrpap1

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 Lrpap1.

No publications found that use IMPC mice or data for Lrpap1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lrpap1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrpap1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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