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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 level OMIM:615999
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter OMIM:188570
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Myxedema
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Hypohidro... OMIM:255900
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Ovarian thecoma, Thyroid nodule, Nephroblastoma OMIM:180295
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism OMIM:225250
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Renal oncocytoma, Papillary thyroid carcinoma, Nodular goiter, Renal cortical adenoma, Pa... ORPHA:97290
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter, Renal cyst OMIM:138790
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma, Papillary rena... ORPHA:319487
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... OMIM:301035
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nephritis, Renal insufficiency ORPHA:3327
Glutaric Aciduria Iii
Hyperthyroidism, Glutaric aciduria, Goiter OMIM:231690
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Pendred Syndrome
Thyroid carcinoma, Goiter, Hyperparathyroidism, Hypothyroidism, Nephropathy ORPHA:705
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Blepharochalasis And Double Lip
Goiter OMIM:109900
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Thyrocerebroretinal Syndrome
Nephritis, Goiter OMIM:274240
Wolfram-Like Syndrome
Dementia, Male hypogonadism, Diabetes mellitus, Hypothyroidism, Abnormality of the upper urinary ... ORPHA:411590
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... ORPHA:95716
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreased circulating T4... OMIM:618573
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Thyroid Lymphoma
Hashimoto thyroiditis, Hyperthyroidism, Goiter, Hypothyroidism ORPHA:97285
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:99819
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:424
Igg4-Related Thyroid Disease
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotoxicosis with... ORPHA:64744
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level OMIM:603373
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Graves Disease, Susceptibility To, 1
Graves disease, Hyperhidrosis, Goiter OMIM:275000
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:301033
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Aa Amyloidosis
Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypothyroidism, Chro... ORPHA:85445
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Goiter OMIM:613239
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Hypothyroidism OMIM:268040
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, Hypothyroidism, 4-hydroxyphenylacetic aciduria ORPHA:2118
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnormality of th... ORPHA:99886
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic ki... OMIM:617575
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Increased... OMIM:171400
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism OMIM:616113
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... OMIM:610755
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Genetic Transient Congenital Hypothyroidism
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... ORPHA:226316
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Micropenis, Panhyp... OMIM:616784
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Cognitive impairment, Polycystic ovaries, Neoplasm of the thyr... ORPHA:457059
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Pitu... ORPHA:163634
Congenital Hypothyroidism
Goiter, Nephrolithiasis, Hypogonadism, Abnormality of the thyroid gland, Anterior hypopituitarism... ORPHA:442
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... ORPHA:99832
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Medullary Thyroid Carcinoma
Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevated calcitonin, Hy... ORPHA:1332
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, C... ORPHA:226313
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Cognitive impairment, Hypothyroidism ORPHA:2349
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Abnormality of the urethra, Hypothyroidism ORPHA:752
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Decreased thyroid-stimulating hormone level, Abnormality of thyro... ORPHA:95715
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypothyroidism, Diffu... OMIM:256300
Mccune-Albright Syndrome
Hyperphosphaturia, Increased serum testosterone level, Renal tubular dysfunction, Macroorchidism,... ORPHA:562
Brain-Lung-Thyroid Syndrome
Hypospadias, Hypoparathyroidism, Congenital hypothyroidism, Megacystis, Thyroid hemiagenesis, Ele... ORPHA:209905
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Proteinuria, Nephrotic syndrome, Hypothyro... OMIM:618347
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
Cowden Syndrome 5
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... OMIM:615108
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Potocki-Shaffer Syndrome
Micropenis, Nephroblastoma, Delayed puberty, Hypothyroidism ORPHA:52022
Nephropathy, Deafness, And Hyperparathyroidism
Renal insufficiency, Hyperparathyroidism, Nephropathy, Parathyroid hyperplasia OMIM:256120
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Mental deterioration, Decreased... ORPHA:289494
Cowden Syndrome 6
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... OMIM:615109
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Hypothyroidism,... OMIM:612885
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism OMIM:614450
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism, Premature ovarian insufficiency OMIM:618625
Pediatric-Onset Graves Disease
Increased circulating T4 level, Goiter, Thyrotoxicosis with diffuse goiter, Graves disease, Incre... ORPHA:525731
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Elevated circulating thyr... OMIM:218700
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypohidrosis, Nephropathy, Hypothyroidism, Renal insufficiency ORPHA:1563
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abn... ORPHA:77296
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Podocyte foot process effacement, Stage 5 chronic kidney disease, Diff... OMIM:619609
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Pituitary Stalk Interruption Syndrome
Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Hypothyro... ORPHA:95496
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Hydroureter, Renal dysplasia, Renal cyst, Decreased testicular ... OMIM:146510
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hypothyroidism OMIM:617713
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Cryptorchidism, Congenital hypothyroidism, Precocious puberty OMIM:614736
Cystinosis
Renal tubular dysfunction, Nephrogenic diabetes insipidus, Type I diabetes mellitus, Hypothyroidi... ORPHA:213
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Cowden Syndrome 1
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Ovarian carcinoma, Hypothyro... OMIM:158350
Autoinflammation, Immune Dysregulation, And Eosinophilia
Membranous nephropathy, Nephrotic syndrome, Hypothyroidism OMIM:618999
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ OMIM:616858
Immunodeficiency 31C
Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Low urinary c... OMIM:612462
Gne Myopathy
Hypothyroidism ORPHA:602
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Thyroid Ectopia
Ectopic thyroid, Hypothyroidism, Abnormality of the thyroid gland ORPHA:95712
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Cognitive impairment, Abnor... ORPHA:411629
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Renal dysplasia, Euthyroid goiter, Polycystic kidney dysplasia... OMIM:113650
Pten Hamartoma Tumor Syndrome
Thyroid carcinoma, Multinodular goiter, Renal cell carcinoma, Thyroid adenoma, Abnormality of the... ORPHA:306498
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Thyroid Hypoplasia
Thyroid hypoplasia, Hypothyroidism ORPHA:95720
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Abnormality of endocrine pancreas physiology, Horseshoe kidney, Renal agenesis, Rena... ORPHA:93111
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Low urinary c... OMIM:103580
Fragile X Tremor/Ataxia Syndrome
Dementia, Urinary incontinence, Hypothyroidism, Premature ovarian insufficiency, Mental deteriora... OMIM:300623
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism ORPHA:2491
Familial Multinodular Goiter
Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neoplasm, Multinodular goi... ORPHA:276399
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Hypothyroidism OMIM:301058
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... OMIM:160980
Alstrom Syndrome
Tubulointerstitial nephritis, Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodul... OMIM:203800
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism ORPHA:96183
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypohidrosis, Hypothyroidism ORPHA:1882
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Nephrocalcino... OMIM:240300
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:619189
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism OMIM:613038
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Diabetes mellitus, Hypothyroidism, Hydrou... OMIM:222300
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal dysplasia, Hypothyroidism, Cryptorchidism, Hypoplasia of penis, Renal ins... ORPHA:85321
Methimazole Embryofetopathy
Hypospadias, Hypothyroidism, Abnormality of the thyroid gland ORPHA:1923
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ectopic thyroid, Thyroid hypoplasia, Hypothyroidism, Thyroid agenesis, Cryptorchidism, Thyroid dy... ORPHA:3047
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Hypercalciuria, Elevated urinar... ORPHA:653
Lig4 Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:606593
Cowden Syndrome
Abnormal penis morphology, Goiter, Renal cell carcinoma, Cognitive impairment, Adenoma sebaceum, ... ORPHA:201
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Cognitive impairment, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Nocturia ORPHA:254892
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Pancreatitis, Abnormality ... ORPHA:1830
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Hypothyroidism ORPHA:2994
Hypothyroidism, Congenital, Nongoitrous, 4
Congenital hypothyroidism OMIM:275100
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Chordee, Renal dysplasia, Bilateral cryptorchidism, Hypothyroidism, Premature ovaria... ORPHA:96179
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type II diabetes mellitus, Cognitive impairment, Pancreatitis, Hypogonadism, Type I diabetes mell... ORPHA:412057
Autosomal Dominant Optic Atrophy, Classic Form
Dementia, Cognitive impairment, Hypogonadism, Diabetes mellitus, Hypothyroidism ORPHA:98673
Multiple Endocrine Neoplasia, Type Iib
Elevated urinary epinephrine, Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, P... OMIM:162300
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... ORPHA:411634
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the kidney, Diabetes mellitus, Hypothyroidism ORPHA:391372
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Cryptorchidism, Delayed puberty, Hypothyroidism OMIM:616817
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Abnormal renal morphology, Hypothyroidism, Decreased response... OMIM:609053
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Progressive neurologic deterioration, Hypothyroidism, Hypopituitarism, Memo... ORPHA:90065
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Renal salt wasting, Congenital hy... ORPHA:361
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism, Abnormality of the kidney, Nephrolithiasis ORPHA:521445
Adiposis Dolorosa
Xerostomia, Memory impairment, Hypothyroidism ORPHA:36397
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Familial Adenomatous Polyposis
Neoplasm of the adrenal gland, Neoplasm of the gallbladder, Goiter, Papillary thyroid carcinoma, ... ORPHA:733
Omenn Syndrome
Thyroiditis, Nephrotic syndrome, Hypothyroidism ORPHA:39041
Stiff Person Spectrum Disorder
Hyperhidrosis, Diabetes mellitus, Hypothyroidism ORPHA:3198
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Congenital hypothyroi... OMIM:601427
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism OMIM:608104
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal cyst, Hypothyroidism, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... ORPHA:226307
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism OMIM:619013
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Chronic kidney disease, Exocrine pancreatic insufficiency... ORPHA:1667
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hyperthyroidism, Abnormality of the thymus, Hashimoto ... ORPHA:589
Ddost-Cdg
Primary hypothyroidism, Nephrotic range proteinuria ORPHA:300536
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Mild proteinuria, Renal insufficiency, Hypothyroidism OMIM:619147
Potocki-Lupski Syndrome
Abnormal renal morphology, Hypothyroidism OMIM:610883
Jung Syndrome
Hypothyroidism ORPHA:2321
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Micrope... OMIM:619487
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Abnormality of thyroid physiology ORPHA:59
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Cognitive impairment, Micropenis, Diabetes mellitus, Hypothyroidism, Unilateral... OMIM:616541
Martin-Probst Syndrome
Hypoplastic nipples, Chordee, Micropenis, Hypothyroidism, Cryptorchidism, Proteinuria, Renal insu... OMIM:300519
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus ORPHA:371428
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:324737
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Progressive neurologic deterioration, Glomerular sclerosis, Nephropathy, Co... ORPHA:247691
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Primary adrenal insufficiency, Hyperthyroidism, Thymoma, Hypothyroidis... OMIM:269200
Fragile X-Associated Tremor/Ataxia Syndrome
Dementia, Urinary bladder sphincter dysfunction, Pollakisuria, Hypothyroidism, Memory impairment ORPHA:93256
Melas
Hypoparathyroidism, Dementia, Type II diabetes mellitus, Focal segmental glomerulosclerosis, Prox... ORPHA:550
Timothy Syndrome
Hypothyroidism OMIM:601005
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypoparathyroidism, Proximal tubulopathy, Cholelithiasis, Hypogonadism, Di... ORPHA:231222
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Cryptorchidism, Microphallus, Hypothyroidism ORPHA:397590
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Oculoskeletodental Syndrome
Mucopolysacchariduria, Renal agenesis, Hypothyroidism, Cryptorchidism, Hypercalciuria OMIM:618440
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Hypothyroidism, Hypergonadotropic hypogonad... OMIM:212065
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypothyroidism, Delayed puberty ORPHA:391408
Cystinosis, Nephropathic
Renal Fanconi syndrome, Generalized aminoaciduria, Progressive neurologic deterioration, Nephroli... OMIM:219800
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Urinary retention, Thyrotoxicosis with toxic mul... ORPHA:79102
Intellectual Disability-Strabismus Syndrome
Hypospadias, Decreased serum insulin-like growth factor 1, Micropenis, Medullary nephrocalcinosis... ORPHA:363528
Koolen-De Vries Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Renal duplication, Hypothyroidism, Vesicourete... ORPHA:96169
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia, Hypothyroid... ORPHA:819
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Type I diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:615952
Lig4 Syndrome
Cryptorchidism, Hypoplasia of penis, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Monosomy 18P
Hypothyroidism ORPHA:1598
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hypogonadism, Hyper... ORPHA:3464
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Type I diabetes mellitus, Hypothyroidism OMIM:304790
Fucosidosis
Hypothyroidism, Mucopolysacchariduria, Hyperhidrosis ORPHA:349
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Renal agenesis, Thyroid hypoplasia, Renal hypoplasia/aplasia, Adrenal hypoplasia OMIM:308050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Hydronephrosis, Unilateral breast hypoplasia, Abnormality of thyroid physiology OMIM:300968
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism ORPHA:300298
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Hypothyroidism, Perineal hypospadias, 3-Methylglutaconic aciduria, Hypo... ORPHA:66634
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Oliguria ORPHA:514
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypothyroidism OMIM:603736
Microform Holoprosencephaly
Maternal diabetes, Renal agenesis, Panhypopituitarism, Hypothyroidism, Hypoplasia of penis ORPHA:280200
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, Crossed fused renal ectopia, Hypothyroidism ORPHA:3258
Diarrhea 10, Protein-Losing Enteropathy Type
Renal dysplasia, Cryptorchidism, Polyuria, Hypothyroidism OMIM:618183
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Delaye... OMIM:619234
Spondyloenchondrodysplasia
Hematuria, Hypothyroidism, Chronic kidney disease, Decreased response to growth hormone stimulati... ORPHA:1855
19P13.12 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Precocious puberty, Hypothyroidism ORPHA:254346
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Thyroid hypoplasia, Abnormal localization of kidney, Abnormality of the hypothalamus... ORPHA:2166
Hypophosphatemic Rickets
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Nephrocalcinosis, Hypocalciuri... ORPHA:437
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Tubulointerstitial nephritis, Xerostomia, Nodular goiter, Abn... ORPHA:79078
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Cognitive impairment, Hyperthyroidism, Hypothyroidism, Cryptorchid... ORPHA:488632
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Cognitive impairment, Tubulointerstitial fibrosis, Polycystic ovaries, Pancreat... ORPHA:79259
Ring Chromosome 12 Syndrome
Cryptorchidism, Breast hypoplasia, Glandular hypospadias, Hypothyroidism ORPHA:1439
Dysbetalipoproteinemia
Acute pancreatitis, Renal steatosis, Diabetes mellitus, Hypothyroidism ORPHA:412
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Premature adrenarche, Hypogonadotr... ORPHA:398079
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperthyroidism, Diabetes mellitus, Hypothyroidism ORPHA:449291
Stüve-Wiedemann Syndrome
Ectopic thyroid, Hypohidrosis, Hypothyroidism, Hyperhidrosis ORPHA:3206
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis, Cryptorchidism, Hypoplasia of penis, Supernumerary nipple ORPHA:1812
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes mellitus, Hypothyroidism, Decreased s... ORPHA:465508
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Long penis, Nephrocalcinosis, Insulin-resistant diabetes mell... ORPHA:769
Phace Syndrome
Ectopic thyroid, Hypothyroidism ORPHA:42775
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Premature pubarche, Premature thelarche, Hypothyroidism, Ketonuria OMIM:616878
Tuberous Sclerosis 1
Renal cell carcinoma, Adenoma sebaceum, Renal cyst, Renal angiomyolipoma, Hypothyroidism, Precoci... OMIM:191100
Poems Syndrome
Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadism, Diabetes mellit... ORPHA:2905
Distal Xq28 Microduplication Syndrome
Hypothyroidism ORPHA:293939
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Congenital hypothyroidism, Supernumerary nipple ORPHA:2519
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropathy, Abnormality of the endo... ORPHA:37042
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:98754
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Congenital hypothyroidism, Gonadotropin deficiency, Elevated circulating thyroid-stimulating horm... OMIM:610978
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:98793
Down Syndrome
Renal hypoplasia/aplasia, Type II diabetes mellitus, Hypothyroidism ORPHA:870
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Absence of pubertal development, C... ORPHA:398069
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Diabetes mellitus, Hypothyroidism, E... ORPHA:456312
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Cognitive impairment, Hypothyr... ORPHA:1556
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:177904
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Type I diabetes mellitus, Hypothyroidism OMIM:606367
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hashimoto thyroiditis, Type I diabetes mellitus, Hypothyroidism OMIM:613385
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:177901
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis, Hypothyroidism ORPHA:457212
Fibrous Dysplasia Of Bone
Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol level, Abnormali... ORPHA:249
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Nephrocalcinosis OMIM:618005
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... ORPHA:231226
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Isolated Biliary Atresia
Atretic gallbladder, Bile duct proliferation, Dark yellow urine, Hypothyroidism, Hypopituitarism ORPHA:30391
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:398073
Tuberous Sclerosis 2
Renal cell carcinoma, Adenoma sebaceum, Renal cyst, Renal angiomyolipoma, Hypothyroidism, Precoci... OMIM:613254
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Horseshoe kidney, Ovarian serous cystadenoma, Unilateral cryptorchidism, Streak ovar... ORPHA:1772
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:618922
Aicardi-Goutieres Syndrome 1
Diabetes insipidus, Hypothyroidism OMIM:225750
Thymic Aplasia
Aplasia of the thymus, Recurrent urinary tract infections, Thyroiditis, Hypothyroidism ORPHA:83471
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Increased circulating prolactin concentration OMIM:617675
Immunodeficiency, Common Variable, 8, With Autoimmunity
Thyroiditis, Type I diabetes mellitus, Hypothyroidism OMIM:614700
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Type I diabetes mellitus, Hypothyroidism ORPHA:228426
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Cognitive impairment, Secondary hyperparathy... ORPHA:273
Pearson Syndrome
Adrenal insufficiency, Hypoparathyroidism, Lacticaciduria, Renal cyst, Glycosuria, Pancreatic fib... ORPHA:699
Bilateral Polymicrogyria
Mental deterioration, Central hypothyroidism, Cognitive impairment ORPHA:268940
Beta-Thalassemia Major
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... ORPHA:231214
Acrocardiofacial Syndrome
Hypospadias, Hyperthyroidism, Hypoplasia of penis, Cryptorchidism ORPHA:2008
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Decreased growth hormo... OMIM:101800
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Xerostomia, Premature adrenarche, Decrease... ORPHA:739
Down Syndrome
Hypothyroidism OMIM:190685
Carney Complex
Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... ORPHA:1359
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Increased circulating prolactin concentration ORPHA:502423
Secondary Short Bowel Syndrome
Central hypothyroidism, Primary hypothyroidism ORPHA:95427
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Congenital hypothyroidism, Pancreatic cysts, Renal cyst, Polycystic kidney... OMIM:610199
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Ureteral duplication, Congenital megaureter,... ORPHA:116
Pseudoxanthoma Elasticum
Hypothyroidism, Nephrocalcinosis ORPHA:758
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Abnormality of bladder morphology, Hypothyroidism, Vesicoureteral reflux, Cryptor... ORPHA:453499
Whipple Disease
Hypothyroidism ORPHA:3452
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of the thymus, Abnormality of the adrenal glands, Cryptorchidism, ... ORPHA:861
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Pallister-Hall Syndrome
Abnormal prolactin level, Hypospadias, Central adrenal insufficiency, Adrenocorticotropic hormone... ORPHA:672
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Pancreatic fibrosis, Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:616263
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Central hypothyroidism, Bilateral cryptorchidism, Cryptorchidism, Decreased testicul... OMIM:300998
Interstitial Lung And Liver Disease
Aminoaciduria, Hypothyroidism OMIM:615486
Mogs-Cdg
Hypothyroidism, Inappropriate antidiuretic hormone secretion, Hydrocele testis ORPHA:79330
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Hypothyroidism OMIM:607944
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:614114
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Urinary incontinence, Steroid-dependent nephrotic syndrome OMIM:300912
Monosomy 18Q
Micropenis, Bilateral cryptorchidism, Secondary growth hormone deficiency, Hypothyroidism ORPHA:1600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Chordee, Posterior pituitary hypoplasia, Abnormality of the endocrine system, Recurr... ORPHA:268261
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Pineal cyst, Hydronephrosis, Renal duplication, Primary adrenal insufficiency, Recur... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Pineal cyst, Hydronephrosis, Renal duplication, Primary adrenal insufficiency, Recur... ORPHA:363958
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Megalocornea-Mental Retardation Syndrome
Primary hypothyroidism OMIM:249310
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hydroureter, Hypothyroidism OMIM:619426
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Hyp... OMIM:107480
Alexander Disease
Hypothyroidism, Precocious puberty, Diabetes mellitus, Hyperhidrosis ORPHA:58
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Renovascular hypertension, Abnormality of the endocrine system, Primary hypothyroidism, Thyroidit... ORPHA:391487
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Cognitive impairment, Congenital hypothyroidism OMIM:617527
Digeorge Syndrome
Hydronephrosis, Renal dysplasia, Parathyroid agenesis, Cholelithiasis, Decreased circulating para... OMIM:188400
Syndromic Diarrhea
Renal hypoplasia, Hypoplasia of the thymus, Polycystic kidney dysplasia, Hypothyroidism ORPHA:84064
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Hyperhidrosis, Hypothyroidism, Cryptorchidism, Supernumerary nipple, Vesicoureter... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Hyperhidrosis, Hypothyroidism, Cryptorchidism, Supernumerary nipple, Vesicoureter... ORPHA:352665
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Ketonuria ORPHA:480864
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Hypoplasia of the thymus, Cholelithiasis, Hype... ORPHA:567
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Hypospadias, Congenital hypothyroidism, Hypogonad... ORPHA:280651
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Townes-Brocks Syndrome
Hypospadias, Renal hypoplasia, Urethral valve, Abnormality of the kidney, Multiple renal cysts, H... ORPHA:857
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Hypothyroidism ORPHA:1052
Cerebrotendinous Xanthomatosis
Progressive psychomotor deterioration, Cognitive impairment, Cholelithiasis, Hypothyroidism ORPHA:909
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Premature adrenarche, Enuresis, Abnormality of the hypothalamus-pituitary... ORPHA:293987
Sarcoidosis
Tubulointerstitial nephritis, Diabetes insipidus, Nephrocalcinosis, Nephrolithiasis, Parotitis, A... ORPHA:797
Lymphatic Malformation 6
Hypothyroidism, Hydrocele testis OMIM:616843
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Cryptorchidism, Hypothyroidism, Premature ovarian insufficiency ORPHA:221008
Williams Syndrome
Hypercalciuria, Abnormality of the bladder, Type II diabetes mellitus, Renovascular hypertension,... ORPHA:904
Williams-Beuren Syndrome
Renal hypoplasia, Urethral stenosis, Early onset of sexual maturation, Nephrocalcinosis, Pelvic k... OMIM:194050
Leprechaunism
Central hypothyroidism, Long penis, Nephrocalcinosis, Enlarged ovaries, Hyperaldosteronism, Incre... ORPHA:508
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism ORPHA:2108
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Horseshoe kidney, Hypothyroidism, Vesicoureteral reflux, Decreased response to growt... ORPHA:444077
Ring Chromosome 13 Syndrome
Hypospadias, Abnormal renal physiology, Urogenital sinus anomaly, Primary hypothyroidism, Micrope... ORPHA:96176
1P36 Deletion Syndrome
Hypospadias, Hydronephrosis, Annular pancreas, Renal cyst, Hypogonadism, Hypothyroidism, Cryptorc... ORPHA:1606
Abetalipoproteinemia
Hypothyroidism ORPHA:14
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hydronephrosis, Abnormality of the anterior pituitary, Abnormality of the endocrine system, Nephr... ORPHA:438213
Schinzel-Giedion Syndrome
Hypospadias, Central hypothyroidism, Hydronephrosis, Abnormality of the ureter, Streak ovary, Ann... ORPHA:798
Aicardi-Goutières Syndrome
Micropenis, Diabetes mellitus, Hypothyroidism ORPHA:51
Charge Syndrome
Horseshoe kidney, Hypoparathyroidism, Hydronephrosis, Renal agenesis, Renal hypoplasia, Hypogonad... OMIM:214800
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Hypothyroidism, Cryptorchidism, Decreased res... ORPHA:506358
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Thyroid hypoplasia, Pelvic kidney, Small pituitary gland, Micropenis, Cryptorchi... OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Hydronephrosis, Type II diabetes mellitus, Dilat... ORPHA:3455
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Congenital hypothyroidism, Pancreatic hypoplasia, Aplasia/Hypoplasia of the... ORPHA:2255
Sotos Syndrome
Hypospadias, Hydronephrosis, Ureteral duplication, Renal agenesis, Congenital posterior urethral ... ORPHA:821
Microphthalmia, Syndromic 6
Hypospadias, Renal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia... OMIM:607932
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Hypoplastic nipples, Urethrovaginal fistula, Micropenis, Diabetes me... OMIM:243800
Coffin-Siris Syndrome 12
Hypospadias, Horseshoe kidney, Cryptorchidism, Hypothyroidism OMIM:619325
Microphthalmia, Syndromic 2
Hypospadias, Adrenal insufficiency, Cryptorchidism, Hypothyroidism OMIM:300166
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Semilobar Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... ORPHA:93924
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Congenital hypothyroidism, Hypothyroidism, Ectopic kidney, Cryptorchidism OMIM:607872
Sponastrime Dysplasia
Hypospadias, Precocious puberty, Hypothyroidism ORPHA:93357
Peters Plus Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Congenital hypothyroidism, Renal duplication, ... ORPHA:709
Doors Syndrome
Adrenal hyperplasia, Hydronephrosis, Congenital hypothyroidism, Nephrocalcinosis, Abnormality of ... ORPHA:79500
Kabuki Syndrome 1
Congenital hypothyroidism, Micropenis, Crossed fused renal ectopia, Premature thelarche, Ureterop... OMIM:147920
Viss Syndrome
Hydronephrosis, Hypothyroidism OMIM:619472
Primrose Syndrome
Congenital hypothyroidism, Bilateral cryptorchidism, Diabetes mellitus, Hypergonadotropic hypogon... OMIM:259050
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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter