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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 Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp... OMIM:188570
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
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
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
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, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Nephroblastoma, Thyroid nodule, Goiter OMIM:180295
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary renal cell carcinoma, Papillary thyroid carcinoma, Nodular goiter, Renal oncocy... ORPHA:97290
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Wolfram-Like Syndrome
Diabetes mellitus, Abnormality of the upper urinary tract, Primary gonadal insufficiency, Dementi... ORPHA:411590
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary renal cell carcinoma, Papillary thyroid carcinoma, Nodula... ORPHA:319487
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter ORPHA:705
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Blepharochalasis And Double Lip
Goiter OMIM:109900
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Thyrocerebroretinal Syndrome
Nephritis, Goiter OMIM:274240
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Hawkinsinuria
Hypothyroidism, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Hypothyroidism, Cryptorchid... OMIM:617575
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Joubert Syndrome 26
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... OMIM:616784
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Confusion, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism, Attention deficit hyperactivity disorder OMIM:619927
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short attention span, Hypospadias, ... ORPHA:209905
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Pheochromocytoma, Elevated circulating calcitonin con... ORPHA:1332
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,... OMIM:620211
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Cognitive impairment ORPHA:2349
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Hyperthyroidism, Macroorchidism, Elevated cir... ORPHA:562
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty ORPHA:52022
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... ORPHA:525731
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Cogniti... ORPHA:77296
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism OMIM:614450
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Renal cell carcinoma, Thyroid carcinoma, ... ORPHA:276399
Pallister-Hall Syndrome
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... OMIM:146510
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypohidrosis, Nephropathy, Hypothyroidism ORPHA:1563
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... ORPHA:652
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Inc... OMIM:614736
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Dystonia 28
Precocious puberty, Hypothyroidism, Attention deficit hyperactivity disorder ORPHA:589618
Cystinosis
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Amin... ORPHA:213
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Gne Myopathy
Hypothyroidism ORPHA:602
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hypothyroidism, Membranous nephropathy OMIM:618999
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism, Attention deficit hyperactivity disorder OMIM:619908
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
14Q11.2 Microduplication Syndrome
Hypothyroidism, Attention deficit hyperactivity disorder ORPHA:261229
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Hypothyroidism OMIM:301058
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Diabetes mellitus, Abnormality of the kidney, Attention deficit hyperactivi... ORPHA:391372
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... ORPHA:93111
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Alstrom Syndrome
Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... OMIM:203800
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:619189
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism ORPHA:2491
Fragile X Tremor/Ataxia Syndrome
Urinary incontinence, Dementia, Mental deterioration, Memory impairment, Hypothyroidism OMIM:300623
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Low urina... OMIM:103580
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism ORPHA:96183
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:95717
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism, Hypospadias ORPHA:1923
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Hydroneph... OMIM:222300
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Atelis Syndrome 1
Hypothyroidism, Attention deficit hyperactivity disorder OMIM:620184
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Cognitive impairment, Hypothyroidism, Nocturia, Goiter ORPHA:254892
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... OMIM:240300
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Elevated urinary catecholamine level, Thyroid C cell hyperplasia,... ORPHA:653
Cowden Syndrome
Abnormal penis morphology, Abnormality of the kidney, Follicular thyroid carcinoma, Enlarged poly... ORPHA:201
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Hypothyroidism, Renal... ORPHA:85321
Schimke Immuno-Osseous Dysplasia
Proteinuria, Abnormality of thyroid physiology, Minimal change glomerulonephritis, Stage 5 chroni... ORPHA:1830
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty ORPHA:2994
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Cognitive impairment, Type I diabetes mellitus, Memory i... ORPHA:412057
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Autosomal Dominant Optic Atrophy, Classic Form
Diabetes mellitus, Dementia, Hypogonadism, Cognitive impairment, Hypothyroidism ORPHA:98673
Multiple Endocrine Neoplasia, Type Iib
Elevated urinary epinephrine level, Pheochromocytoma, Elevated circulating calcitonin concentrati... OMIM:162300
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... ORPHA:96179
Potocki-Lupski Syndrome
Abnormal renal morphology, Hypothyroidism OMIM:610883
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Delayed puberty OMIM:616817
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Hypopituitarism, H... ORPHA:90065
Adiposis Dolorosa
Memory impairment, Hypothyroidism, Xerostomia ORPHA:36397
Isolated Atp Synthase Deficiency
Hypogonadism, 3-Methylglutaconic aciduria, Hypothyroidism, Renal hypoplasia ORPHA:254913
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi... OMIM:609053
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Abnormality of thyroid physiology ORPHA:59
Omenn Syndrome
Nephrotic syndrome, Hypothyroidism, Thyroiditis ORPHA:39041
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Cryptorchidism, Microphallus, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:397590
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract infections, D... ORPHA:361
Wolcott-Rallison Syndrome
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Centra... ORPHA:1667
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Ddost-Cdg
Nephrotic range proteinuria, Primary hypothyroidism ORPHA:300536
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Hypothyroidism ORPHA:445038
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Diabetes mellitus, Hyperthyroidism, Attention deficit hyperactivity disorde... ORPHA:449291
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal localization of... ORPHA:819
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Melas
Hypoparathyroidism, Short attention span, Diabetes mellitus, Proteinuria, Hypogonadotropic hypogo... ORPHA:550
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hypothyroidism, Mild proteinuria OMIM:619147
Jung Syndrome
Hypothyroidism ORPHA:2321
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Acute pancreatitis, Stage 5... OMIM:619487
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Proximal tubulopathy, Adrenal insufficiency, Hypogonadism,... ORPHA:231222
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Glycosuria, Hashimoto... ORPHA:589
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Diabetes mellitus, Hypospadias, Congenital hypothyroidism OMIM:614613
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Progressive neurologic deterioration, Memory impairment, Cognitive impairment, Glome... ORPHA:247691
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, C... OMIM:616541
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Dementia, Memory impairment, Urinary bladder sphincter dysfunction, Hypothyroidism ORPHA:93256
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypot... OMIM:300519
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Hypothyroidism OMIM:608104
Scleromyxedema
Abnormality of thyroid physiology, Abnormality of the kidney ORPHA:167635
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism OMIM:607906
Oculoskeletodental Syndrome
Renal agenesis, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism OMIM:618440
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Cystinosis, Nephropathic
Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight... OMIM:219800
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty OMIM:615952
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Attention deficit hyperac... OMIM:191100
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hypothyroidism OMIM:617713
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism OMIM:600430
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypothyroidism, Delayed puberty ORPHA:391408
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hypothyroidism OMIM:251900
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hypothyroidism, Hydrone... ORPHA:96169
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism, Glomerulonephritis OMIM:304790
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Attention deficit hyperactivity disorder ORPHA:293939
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Cryptorchidism, A... ORPHA:2166
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Fucosidosis
Mucopolysacchariduria, Hypothyroidism, Hyperhidrosis ORPHA:349
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Hypothyroidism, Decreased response to growth hormone stimulat... OMIM:619234
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Immunodeficiency 102
Hypothyroidism OMIM:301082
Lig4 Syndrome
Cryptorchidism, Micropenis, Hypothyroidism, Type II diabetes mellitus OMIM:606593
Lig4 Syndrome
Cryptorchidism, Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Monosomy 18P
Hypothyroidism ORPHA:1598
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Enlargement of parotid gland, Tubulointerstiti... ORPHA:79078
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Abnormality of thyroid physiology, Unilateral breast hypoplasia, Renal dysplasia OMIM:300968
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism OMIM:617796
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, 3-Methylglutaconic aciduria,... ORPHA:66634
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia ORPHA:3258
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism ORPHA:514
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Hypospadias, Cryptorchidism ORPHA:254346
Microform Holoprosencephaly
Hypoplasia of penis, Renal agenesis, Maternal diabetes, Panhypopituitarism, Hypothyroidism ORPHA:280200
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, Nephrocalcinosi... ORPHA:79259
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hemat... ORPHA:1855
Dysbetalipoproteinemia
Hypothyroidism, Acute pancreatitis, Diabetes mellitus, Renal steatosis ORPHA:412
Timothy Syndrome
Hypothyroidism OMIM:601005
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... ORPHA:488632
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypothyroidism ORPHA:1812
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Hypergonadotropic hypogonadism, Renal cyst, Nephrotic syndrome, Proximal tubulopathy... OMIM:212065
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism ORPHA:263297
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Premature thelarche, Myoglobinuria, Hypothyroidism, Premature pubarche OMIM:616878
Ring Chromosome 12 Syndrome
Cryptorchidism, Hypothyroidism, Glandular hypospadias, Breast hypoplasia ORPHA:1439
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... OMIM:618183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Thyroiditis, Tubulointerstitial nephritis, ... ORPHA:37042
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Hypothyroidism, D... ORPHA:456312
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Hypospadias, Cryptorchidism OMIM:603736
Down Syndrome
Hypothyroidism, Type II diabetes mellitus, Renal hypoplasia/aplasia ORPHA:870
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis OMIM:613385
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased serum testosterone concentration, Hyp... ORPHA:465508
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Hypothyroidism, Cognitive impa... ORPHA:1556
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Hypothyroidism ORPHA:457212
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Xerostomia, Absence of pubertal developme... ORPHA:398069
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Hypothyroidism OMIM:618005
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:606367
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Isolated Biliary Atresia
Dark yellow urine, Atretic gallbladder, Bile duct proliferation, Hypopituitarism, Hypothyroidism ORPHA:30391
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231226
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia, Hydronephrosis, Unilateral renal agenesis OMIM:308050
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618922
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypospadias, Abnormality of the kidney,... ORPHA:1772
Steinert Myotonic Dystrophy
Short attention span, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to gr... ORPHA:273
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Increased circulating prolactin concentration OMIM:617675
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Pancreatic cysts, Elevated circulating thyroid-stimulating hormone concentrati... OMIM:610199
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... OMIM:620305
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:614700
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... ORPHA:699
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Attention deficit hyperactivity disorder, Hypothyroidism, Hydronep... OMIM:619426
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Increased circulating prolactin concentration ORPHA:502423
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis ORPHA:228426
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231214
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Cryptorchidism, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis ORPHA:453499
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Bilateral Polymicrogyria
Mental deterioration, Cognitive impairment, Central hypothyroidism ORPHA:268940
Pseudoxanthoma Elasticum
Nephrocalcinosis, Hypothyroidism ORPHA:758
Acrocardiofacial Syndrome
Cryptorchidism, Hypoplasia of penis, Hyperthyroidism, Hypospadias ORPHA:2008
Pallister-Hall Syndrome
Decreased testicular size, Thyroid hypoplasia, Hypopituitarism, Hypospadias, Unilateral renal age... ORPHA:672
Treacher-Collins Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus,... ORPHA:861
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Abnorm... ORPHA:116
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
Monosomy 18Q
Bilateral cryptorchidism, Micropenis, Hypothyroidism, Secondary growth hormone deficiency ORPHA:1600
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Whipple Disease
Hypothyroidism ORPHA:3452
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Micropenis, Hypospadias OMIM:613673
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, Hypothyroidism, Hydrocele testis ORPHA:79330
Interstitial Lung And Liver Disease
Aminoaciduria, Hypothyroidism OMIM:615486
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Delayed puberty, Hypothyroidism, Exocrine pancreatic insu... OMIM:616263
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Hypoplastic nipples, Cholelithiasis, Hypothyroidism, Exocrine pancreatic ... OMIM:618268
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Tubulointerstitial fibrosis OMIM:607944
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:268261
Alexander Disease
Precocious puberty, Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:58
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased circulating parat... OMIM:188400
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Renal hypoplasia, Multiple rena... ORPHA:567
Cerebrotendinous Xanthomatosis
Short attention span, Progressive psychomotor deterioration, Cognitive impairment, Attention defi... ORPHA:909
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Functional abnormality of the bladder, Thyroiditis, Renovasc... ORPHA:391487
Andersen Cardiodysrhythmic Periodic Paralysis
Hyperthyroidism OMIM:170390
Williams-Beuren Syndrome
Short attention span, Recurrent urinary tract infections, Renal insufficiency, Diabetes mellitus,... OMIM:194050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Vesicoureteral reflux, Hypothyroidism, Hydro... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Vesicoureteral reflux, Hypothyroidism, Hydro... ORPHA:352665
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Cryptorchidism, Hypothyroidism, Attention deficit hyperactivity disorder ORPHA:221008
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Attenti... ORPHA:506358
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Hypothyroidism, Nephroblastoma ORPHA:1052
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Exocrine pancreatic insufficiency OMIM:620005
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Lymphatic Malformation 6
Hydrocele testis, Hypothyroidism OMIM:616843
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Enlarged lacrimal glands, Nephrolithias... ORPHA:797
Immunodeficiency 31C
Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe kidney, Vesicourete... ORPHA:444077
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Hypothyroidism OMIM:615846
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Leprechaunism
Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocal... ORPHA:508
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Abnormality of the anter... ORPHA:438213
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogona... ORPHA:1606
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Primary hypothyroidism, Abnormal renal physiology, Mi... ORPHA:96176
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism ORPHA:2108
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, ... ORPHA:3455
Abetalipoproteinemia
Hypothyroidism ORPHA:14
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Cryptorchidism, R... OMIM:107480
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffici... ORPHA:2255
Aicardi-Goutières Syndrome
Micropenis, Diabetes mellitus, Hypothyroidism ORPHA:51
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Charge Syndrome
Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h... OMIM:214800
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Coffin-Siris Syndrome 12
Cryptorchidism, Hypospadias, Hypothyroidism, Horseshoe kidney OMIM:619325
Microphthalmia, Syndromic 2
Hypothyroidism, Adrenal insufficiency, Hypospadias, Cryptorchidism OMIM:300166
Microphthalmia, Syndromic 6
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Anterior hypopituitari... OMIM:607932
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Ectopic kidney, Cryptorchidism, Congenital hypothyroidism, Hypothyroidism OMIM:607872
Down Syndrome
Hypothyroidism OMIM:190685
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Hypothyroidism, Hydronephrosis OMIM:606170
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Cryptorchidism, Hypoplastic nipples, Prim... OMIM:243800
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Hypospadias ORPHA:93357
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Atte... 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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