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Gene: Gfra4 MGI:1341873

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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:
glial cell line derived neurotrophic factor family receptor alpha 4
Synonyms:
G630015H18Rik,  GFR alpha-4

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 Gfra4 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gfra4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... OMIM:620198
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... OMIM:609698
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Congenital Atransferrinemia
Hypothyroidism, Arthritis ORPHA:1195
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism OMIM:262700
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Epiphyseal stippling, Typ... OMIM:274300
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration OMIM:603373
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Congenital hypothyroidism ORPHA:88643
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Mccune-Albright Syndrome
Precocious puberty, Craniofacial hyperostosis, Hyperparathyroidism, Pituitary adenoma, Increased ... OMIM:174800
Wolfram-Like Syndrome
Male hypogonadism, Central diabetes insipidus, Hypothyroidism, Delayed puberty, Primary gonadal i... ORPHA:411590
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Male hypogonadism, Hypothyroidism OMIM:618625
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... OMIM:600785
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Gne Myopathy
Limited shoulder movement, Limited wrist extension, Hypothyroidism ORPHA:602
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Decreased skull ossification ORPHA:52022
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis OMIM:241850
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hypothyroidism, Osteoarthritis, Osteoporosis, Abnormality of th... ORPHA:77296
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Decreased thyroid-stim... ORPHA:95715
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism, Hamstring contractures, Elbow ankylosis ORPHA:96183
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism OMIM:616784
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Hypercholanemia, Familial 1
Rickets OMIM:607748
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Hypothyroidism, Mater... ORPHA:99886
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, Hypothyroidism OMIM:619851
Subcorneal Pustular Dermatosis
Hypothyroidism, Rheumatoid arthritis, Hyperthyroidism ORPHA:48377
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Hypogonadism ORPHA:3363
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Hypothyroidism, Decreased thyroid-stimulating hormone level OMIM:275100
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone OMIM:614450
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri... OMIM:612089
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Recurrent frac... OMIM:613388
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Bone Marrow Failure Syndrome 6
Osteopenia, Hypothyroidism OMIM:618849
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Osteomalacia, Pathologic fracture, Hypophosphate... ORPHA:157215
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bon... ORPHA:93160
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Hawkinsinuria
Hypothyroidism ORPHA:2118
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Hypothyroidism, Limitation of joint mobility, Camptodactyly of finger ORPHA:2994
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:612885
Allan-Herndon-Dudley Syndrome
Flexion contracture, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Abnormality... ORPHA:289494
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... OMIM:613038
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperinsulinemia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:620211
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Mccune-Albright Syndrome
Precocious puberty, Aneurysmal bone cyst, Increased circulating cortisol level, Increased circula... ORPHA:562
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ... ORPHA:226313
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Hashimoto thyroiditis, Hypothyroidism, Thyrotoxicosis w... ORPHA:64744
Fibrous Dysplasia Of Bone
Precocious puberty in females, Rickets, Increased circulating cortisol level, Osteomalacia, Corti... ORPHA:249
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Pseudohypoparathyroidism, Hypothyro... OMIM:103580
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism, Joint hypermobility OMIM:619013
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Ddost-Cdg
Osteopenia, Primary hypothyroidism ORPHA:300536
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism, Joint hypermobility OMIM:617930
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... OMIM:241530
Cystinosis
Type I diabetes mellitus, Rickets, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insipidus ORPHA:213
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Beta-Thalassemia Intermedia
Osteopenia, Hypogonadism, Adrenal insufficiency, Increased susceptibility to fractures, Hypothyro... ORPHA:231222
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Type I diabetes mellitus, Rickets OMIM:560000
Infantile Systemic Hyalinosis
Osteopenia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Osteomalacia, Joint stiffn... ORPHA:2176
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:600081
Allan-Herndon-Dudley Syndrome
Flexion contracture, Abnormality of thyroid physiology ORPHA:59
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Seconda... OMIM:264700
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Seconda... OMIM:277440
Foxp1 Syndrome
Flexion contracture, Hypothyroidism, Diabetes mellitus ORPHA:391372
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, Diabetes insipi... ORPHA:95496
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism OMIM:613970
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:618347
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Li-Campeau Syndrome
Hypothyroidism OMIM:619189
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Poems Syndrome
Increased circulating prolactin concentration, Sclerosis of foot bone, Sclerosis of hand bone, Hy... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Joint hypermobility OMIM:607906
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn... ORPHA:3206
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hypophosphatemic rickets, ... OMIM:307800
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Advanced ossification of carpal bones, Diabetes mellitus OMIM:614613
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Joint stiffness, Hypogonadotropic hypogonadism, Hypot... ORPHA:465508
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Osteoma... ORPHA:289157
Adiposis Dolorosa
Hypothyroidism, Xerostomia, Arthritis ORPHA:36397
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Decreased circulating T4 concentration, Hypothyroidism OMIM:608104
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... OMIM:240300
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland ORPHA:1923
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Delayed puberty, Diabetes mellitus, Joint hypermobility ORPHA:391408
Pediatric-Onset Graves Disease
Graves disease, Goiter, Puberty and gonadal disorders, Increased circulating free T3, Hyperhidros... ORPHA:525731
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy... ORPHA:453533
Cowden Syndrome 5
Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615108
Myasthenia Gravis
Rheumatoid arthritis, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abno... ORPHA:589
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Limitation of joint mobility, Decreased response to growth hormone... ORPHA:363528
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Decreased response to growth hormone stimulation test, Joint hypermobility, Bilateral camptodacty... OMIM:619234
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypohidrosis ORPHA:1563
Cowden Syndrome 6
Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:615109
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Diabetes mellitus OMIM:616026
Potocki-Lupski Syndrome
Hypothyroidism OMIM:610883
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Diabetes mellitus, Hyperthyroidism, Joint hypermobility ORPHA:449291
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism OMIM:619908
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:324737
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty OMIM:616817
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... ORPHA:412057
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis, Osteomalacia OMIM:600740
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypothyroidism, Joint hypermobility ORPHA:2479
19P13.12 Microdeletion Syndrome
Precocious puberty, Craniosynostosis, Hypothyroidism, Arthrogryposis multiplex congenita ORPHA:254346
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Osteopenia, Precocious puberty, Small pituitary gland, Xerostomia, Central ... ORPHA:398079
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Osteopenia, Precocious puberty, Decreased circulating gonadotropin concentr... ORPHA:98754
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypothyroidism, Joint contracture OMIM:618005
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism, Arthritis OMIM:304790
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Jung Syndrome
Hypothyroidism ORPHA:2321
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Limited elbow extension, Hashimoto thyroiditis, Hypothyroidism, Camptod... OMIM:613385
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Rickets, Delayed puberty, Osteoporosis, Thyroiditis OMIM:212750
Dominant Beta-Thalassemia
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Oste... ORPHA:231226
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Osteopenia, Precocious puberty, Decreased circulating gonadotropin concentr... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Hypothyroidism OMIM:617796
Cenani-Lenz Syndrome
Synostosis of joints, Radioulnar synostosis, Hypothyroidism, Synostosis of carpal bones ORPHA:3258
Smith-Magenis Syndrome
Precocious puberty, Joint stiffness, Hypothyroidism, Delayed puberty ORPHA:819
Isolated Atp Synthase Deficiency
Hypogonadism, Hypothyroidism ORPHA:254913
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Osteopenia, Precocious puberty, Decreased circulating gonadotropin concentr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Osteopenia, Precocious puberty, Decreased circulating gonadotropin concentr... ORPHA:177901
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism OMIM:600430
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Hypothyroidism, Fused cervical vertebrae OMIM:609053
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Foot joint contracture, Exocrine pancreatic insufficiency, Hypothy... ORPHA:456312
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypogonadotropic hypogonadism, Abnormal thyroid... OMIM:616113
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Hypothyroidism, Diabetes mellitus ORPHA:98673
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Rickets ORPHA:411629
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Type I diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:615952
Fanconi-Bickel Syndrome
Osteopenia, Rickets, Diabetes mellitus ORPHA:2088
Dysbetalipoproteinemia
Acute pancreatitis, Hypothyroidism, Gout, Diabetes mellitus ORPHA:412
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Prader-Willi Syndrome
Premature adrenarche, Osteopenia, Precocious puberty, Small pituitary gland, Xerostomia, Decrease... ORPHA:739
Cowden Syndrome 1
Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis OMIM:158350
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Immunodeficiency 102
Hypothyroidism OMIM:301082
Monosomy 18P
Hypothyroidism ORPHA:1598
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Type I diabetes mellitus, Hypothyroidism OMIM:620430
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Hypogonadism, Osteoporosis, Flexion contracture, Arthrogryposi... ORPHA:2671
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis ORPHA:1830
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
Beta-Thalassemia Major
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Oste... ORPHA:231214
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Omenn Syndrome
Hypothyroidism, Thyroiditis ORPHA:39041
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Immunodeficiency, Common Variable, 8, With Autoimmunity
Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Arthritis OMIM:614700
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Hypothyroidism, Contractures of the large ... ORPHA:96179
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Joint hypermobility OMIM:300968
Timothy Syndrome
Hypothyroidism OMIM:601005
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Decreased response to... ORPHA:3464
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Increased circulating prolactin concentration, Generalized joint hypermobility ORPHA:502423
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Hypothyroidism, ... ORPHA:1667
Thyrotoxic Periodic Paralysis
Graves disease, Hyperhidrosis, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Thyrotoxicosi... ORPHA:79102
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:101800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Camptodactyly, Type I diabetes mellitus, Hypothyroidism, Thyroiditis ORPHA:228426
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Nephrotic Syndrome, Type 1
Hypothyroidism OMIM:256300
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Hypothyroid... ORPHA:488632
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... ORPHA:89936
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Osteopenia, Small pituitary gland, Xerostomia, Central hypothyroidism, Hypogo... ORPHA:398069
Koolen-De Vries Syndrome
Vertebral fusion, Hypothyroidism, Joint hypermobility ORPHA:96169
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Immunodeficiency 31C
Osteopenia, Osteomyelitis, Hypothyroidism, Delayed puberty, Diabetes mellitus OMIM:614162
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Joint hypermobility, Hypothyroidism, Arthritis, Abno... ORPHA:93111
Oculoskeletodental Syndrome
Elbow flexion contracture, Hypothyroidism OMIM:618440
Aicardi-Goutieres Syndrome 9
Osteoporosis, Hypothyroidism, Acute pancreatitis OMIM:619487
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Flexion contracture, Hypothyroidism, Hypergonadotropic hypogonadism OMIM:212065
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Distal Xq28 Microduplication Syndrome
Hypothyroidism ORPHA:293939
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Craniosynostosis, Hypothyroidism OMIM:614114
Whipple Disease
Hypothyroidism, Arthritis ORPHA:3452
Alexander Disease
Precocious puberty, Osteopenia, Hypothyroidism, Hyperhidrosis, Diabetes mellitus ORPHA:58
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism ORPHA:397590
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating... OMIM:610199
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Hypothyroidism, Decreased response to growth hormone stimulation t... ORPHA:1855
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus OMIM:606593
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:606367
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism ORPHA:85321
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Osteomyelitis, Hypothyroidism, Hyperthyroidism, Abnormality of the endo... ORPHA:37042
Spondyloenchondrodysplasia With Immune Dysregulation
Juvenile rheumatoid arthritis, Hypothyroidism, Sclerosis of skull base, Rheumatoid arthritis OMIM:607944
Ring Chromosome 12 Syndrome
Hypothyroidism, Symphalangism of the thumb ORPHA:1439
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Hypothyroidism, Hyperthyroidism, Osteoporosis, Diabetes mellitus ORPHA:254892
Neuhauser Syndrome
Osteopenia, Primary hypothyroidism OMIM:249310
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:618922
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Gout, Increased susceptibility to fractures, Hypothyroidism, Delayed puberty, Pancrea... ORPHA:79259
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Increased circulating prolactin concentration OMIM:617675
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Hypothyroidism, Craniosynostosis ORPHA:453499
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... ORPHA:209905
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism OMIM:617713
Pseudoxanthoma Elasticum
Hypothyroidism, Joint hypermobility ORPHA:758
Microform Holoprosencephaly
Panhypopituitarism, Hypothyroidism, Maternal diabetes ORPHA:280200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Achilles tendon contracture, ... OMIM:616263
Monosomy 18Q
Secondary growth hormone deficiency, Hypothyroidism, Joint hypermobility ORPHA:1600
Secondary Short Bowel Syndrome
Central hypothyroidism, Primary hypothyroidism ORPHA:95427
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1812
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Joint hypermobility, Thyroid agenesis, Hypothyroidism, Thyroid dysgenesi... ORPHA:3047
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism OMIM:619147
Hallermann-Streiff Syndrome
Hypothyroidism, Recurrent fractures, Reduced bone mineral density, Tracheomalacia ORPHA:2108
Trichohepatoneurodevelopmental Syndrome
Exocrine pancreatic insufficiency, Joint hypermobility, Recurrent pancreatitis, Distal arthrogryp... OMIM:618268
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism, Reduced bone mineral density ORPHA:1556
Alkaptonuria
Joint stiffness, Increased susceptibility to fractures, Prostatitis, Hypothyroidism, Arthritis, O... ORPHA:56
Andersen Cardiodysrhythmic Periodic Paralysis
Hyperthyroidism, Joint hypermobility OMIM:170390
Distal Renal Tubular Acidosis
Reduced bone mineral density, Rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:18
Rabson-Mendenhall Syndrome
Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypothyroidism... ORPHA:769
Melas
Type I diabetes mellitus, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pan... ORPHA:550
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Hypothyroidism, Premature pubarche OMIM:616878
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Hypogonadism, Finger symphalangism, Hypothyroidism ORPHA:221008
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Diabetes mellitus OMIM:616541
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Osteopenia, Joint hypermobility, Hypothyroidism, Sagittal craniosyno... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Osteopenia, Joint hypermobility, Hypothyroidism, Sagittal craniosyno... ORPHA:352665
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Congenital hypothyroidism, Limited elbow extension, Laryngotracheomalacia, Delayed os... OMIM:271510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Type I diabetes mellitus, Primary hypothyroidism, Delayed puberty, Generalized osteop... ORPHA:391487
Acrocardiofacial Syndrome
Hyperthyroidism, Camptodactyly of finger ORPHA:2008
Down Syndrome
Delayed puberty, Type II diabetes mellitus, Hyperthyroidism, Joint hypermobility ORPHA:870
Dilated Cardiomyopathy With Ataxia
Hypothyroidism ORPHA:66634
Cystinosis, Nephropathic
Male hypogonadism, Rickets, Exocrine pancreatic insufficiency, Hypophosphatemic rickets, Primary ... OMIM:219800
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... ORPHA:198
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, Hypothyroidism ORPHA:79330
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Osteomalacia ORPHA:405
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hypothyroidism, Thyroiditis ORPHA:83471
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Abnormality of the thyroid gland, Hypothyroidism, Pancreatitis, Papill... ORPHA:733
Steinert Myotonic Dystrophy
Male hypogonadism, Decreased response to growth hormone stimulation test, Decreased serum testost... ORPHA:273
Abetalipoproteinemia
Osteopenia, Hypothyroidism ORPHA:14
Cerebrotendinous Xanthomatosis
Osteoporosis, Osteopenia, Hypothyroidism, Increased susceptibility to fractures ORPHA:909
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Ohdo Syndrome, Sbbys Variant
Hypothyroidism OMIM:603736
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Joint hypermobility, Thin bony cortex, Reduced bone mineral density OMIM:613658
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Osteolysis ORPHA:1052
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Ost... ORPHA:534
Wilson Disease
Osteomalacia, Joint hypermobility, Osteoarthritis, Hypoparathyroidism, Osteoporosis OMIM:277900
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Tracheomalacia, Decreased response to growth hormone stimulation test, Primar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Tracheomalacia, Decreased response to growth hormone stimulation test, Primar... ORPHA:363958
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Craniosynostosis, Hypothyroidism OMIM:620005
Isolated Biliary Atresia
Hypopituitarism, Hypothyroidism ORPHA:30391
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal circulating calcium-phosphate regulating hormone concentration, Rickets, Ost... ORPHA:2636
Martin-Probst Syndrome
Hypothyroidism OMIM:300519
White-Kernohan Syndrome
Hypothyroidism, Joint hypermobility OMIM:619426
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:618183
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Joint hypermobility, Hypoplasia of the thymus, Hypothyroidism, ... ORPHA:567
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism OMIM:613673
Interstitial Lung And Liver Disease
Hypothyroidism OMIM:615486
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Pearson Syndrome
Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Adrenal... ORPHA:699
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Arthritis OMIM:615846
Aicardi-Goutières Syndrome
Hypothyroidism, Diabetes mellitus, Multiple joint contractures, Arthritis ORPHA:51
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Osteopenia, Increased circulating prolactin concentration, Joint hypermobilit... ORPHA:438213
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fracture, Osteomalaci... OMIM:309000
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism OMIM:191100
Lymphatic Malformation 6
Hypothyroidism OMIM:616843
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Distal arthrogryposis, Hypothyroidism, Fin... ORPHA:506358
Phace Association
Congenital hypothyroidism, Lingual thyroid OMIM:606519
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypothyroidism, Tracheomalacia, Decreased response to growth hor... ORPHA:444077
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Thyroid hypoplasia OMIM:620186
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Hypothyroidism, Abnor... ORPHA:268261
Sponastrime Dysplasia
Delayed epiphyseal ossification, Precocious puberty, Limited elbow extension, Joint hypermobility... ORPHA:93357
Microphthalmia, Syndromic 2
Adrenal insufficiency, Contracture of the proximal interphalangeal joint of the 2nd toe, Radiouln... OMIM:300166
Primrose Syndrome
Knee flexion contracture, Hip contracture, Joint hypermobility, Hypothyroidism, Delayed puberty, ... OMIM:259050
Down Syndrome
Hypothyroidism, Joint hypermobility OMIM:190685
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism OMIM:613254
Syndromic Diarrhea
Hypoplasia of the thymus, Hypothyroidism ORPHA:84064
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypothyroidism, Delayed puberty, Increa... ORPHA:1772
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Increased circulating prolactin concentration, Camptodactyly of finger, Decreased res... ORPHA:3455
Sarcoidosis
Parotitis, Abnormality of the adrenal glands, Hypothyroidism, Hyperthyroidism, Diabetes insipidus... ORPHA:797
Williams Syndrome
Synostosis of joints, Osteopenia, Precocious puberty, Joint stiffness, Type II diabetes mellitus,... ORPHA:904
1P36 Deletion Syndrome
Hypogonadism, Joint stiffness, Hypothyroidism, Camptodactyly of finger ORPHA:1606
Bardet-Biedl Syndrome
Hypogonadism, Type II diabetes mellitus, Joint hypermobility, Hypothyroidism, Hypoplasia of the o... ORPHA:110
Juvenile Nephropathic Cystinosis
Hypothyroidism ORPHA:411634
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Coffin-Siris Syndrome 12
Radioulnar synostosis, Hypothyroidism, Joint hypermobility OMIM:619325
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Arthritis, Osteomalacia OMIM:619381
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Anterior hypopituitarism, Hypothyroidism, Adrenal hypoplasia, Female... OMIM:607932
Hypomagnesemia 3, Renal
Rickets, Elevated circulating parathyroid hormone level OMIM:248250
Williams-Beuren Syndrome
Osteopenia, Early onset of sexual maturation, Joint hypermobility, Radioulnar synostosis, Hypothy... OMIM:194050
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Adrenocortical cytomegaly, Pseudohypoparathyroidism, Adrenocor... ORPHA:116
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Camptodactyly of finger OMIM:607872
Generalized Arterial Calcification Of Infancy
Osteomalacia, Adrenal calcification, Hypophosphatemic rickets, Abnormal calcification of the carp... ORPHA:51608
Digeorge Syndrome
Parathyroid hypoplasia, Parathyroid agenesis, Hypoplasia of the thymus, Hypothyroidism, Abnormal ... OMIM:188400
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Genitopatellar Syndrome
Radioulnar synostosis, Hypothyroidism, Knee flexion contracture, Hip contracture OMIM:606170
Viss Syndrome
Joint hypermobility, Hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd... OMIM:619472
Sotos Syndrome
Ankle flexion contracture, Hip contracture, Joint hypermobility, Bilateral camptodactyly, Hypothy... ORPHA:821
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Primary hypothyroidism, Joint hypermobility, Hypothyroidism, D... OMIM:243800
Townes-Brocks Syndrome 1
Hypothyroidism, Metatarsal synostosis OMIM:107480
Townes-Brocks Syndrome
Hypothyroidism, Delayed puberty ORPHA:857

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 Gfra4

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 Gfra4.

No publications found that use IMPC mice or data for Gfra4.

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
Gfra4tm210367(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gfra4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gfra4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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