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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
Increased circulating free T4 concentration, Euthyroid hyperthyroxinemia OMIM:615999
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... OMIM:609698
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Congenital Atransferrinemia
Hypothyroidism, Arthritis ORPHA:1195
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... OMIM:300888
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... OMIM:274300
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Craniosynostosis ORPHA:88643
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism, Osteoporosis OMIM:618625
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... OMIM:225250
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Hypophosphatasia, Adult
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Pathologic fra... OMIM:146300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism OMIM:616113
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Autoimmune Polyendocrinopathy Type 2
Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ... ORPHA:3143
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... OMIM:613239
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Decreased skull ossification ORPHA:52022
Gne Myopathy
Hypothyroidism, Limited wrist extension, Limited shoulder movement ORPHA:602
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Delayed pube... ORPHA:411590
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hyperostosis frontalis interna, Diabetes mellitus, Abnormality of the thyroid gla... ORPHA:77296
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... OMIM:610755
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Congenital hypothyroidism, Elbow ankylosis ORPHA:96183
Hypercholanemia, Familial 1
Rickets OMIM:607748
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism, Rheumatoid arthritis ORPHA:48377
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Flexion contracture OMIM:619851
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism OMIM:614450
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone level, Hyperparathyroi... OMIM:612089
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration OMIM:275100
Idiopathic Congenital Hypothyroidism
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95717
Hawkinsinuria
Hypothyroidism ORPHA:2118
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Fanconi Renotubular Syndrome 2
Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone level, Osteo... OMIM:613388
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization, Osteolysis, Hyperparathy... ORPHA:93160
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Hypophosphatemic rickets, Decreased circulating parathyroid hormone level, Patholog... ORPHA:157215
Bone Marrow Failure Syndrome 6
Hypothyroidism, Osteopenia OMIM:618849
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Premature Ovarian Failure 10
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary,... OMIM:612885
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Hypothyroidism, Delayed puberty, Limitation of joint mobility ORPHA:2994
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
4H Leukodystrophy
Hypogonadotropic hypogonadism, Delayed puberty, Decreased response to growth hormone stimulation ... ORPHA:289494
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:226313
Pendred Syndrome
Goiter, Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma ORPHA:705
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... OMIM:613038
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... ORPHA:99819
Mccune-Albright Syndrome
Monostotic fibrous dysplasia, Increased circulating prolactin concentration, Precocious puberty, ... ORPHA:562
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... ORPHA:424
Fibrous Dysplasia Of Bone
Precocious puberty in females, Thin bony cortex, Hyperthyroidism, Increased circulating cortisol ... ORPHA:249
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Igg4-Related Thyroid Disease
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... ORPHA:64744
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophospha... OMIM:300554
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyro... OMIM:103580
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... OMIM:609152
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypogonadism, Ele... OMIM:612462
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Beta-Thalassemia Intermedia
Hypothyroidism, Increased susceptibility to fractures, Hypogonadism, Adrenal insufficiency, Diabe... ORPHA:231222
Cystinosis
Hypothyroidism, Type I diabetes mellitus, Rickets, Delayed puberty, Nephrogenic diabetes insipidus ORPHA:213
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... OMIM:241530
Ddost-Cdg
Osteopenia, Primary hypothyroidism ORPHA:300536
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Joint hypermobility OMIM:619013
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... ORPHA:226316
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis, Type I diabetes mellitus OMIM:560000
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... ORPHA:2176
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Secondary hyperparathyroidism, Ric... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Sparse bone trabeculae, Se... ORPHA:289157
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Secondary hyperparathyroidism, Ric... OMIM:277440
Allan-Herndon-Dudley Syndrome
Flexion contracture, Abnormality of thyroid physiology ORPHA:59
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... OMIM:614736
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, ... OMIM:307800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Diabetes insipidus, Ectopic posterior pituitary, Delayed puberty, Abnormality of ... ORPHA:95496
Dystonia 28
Hypothyroidism, Precocious puberty ORPHA:589618
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism OMIM:613970
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism OMIM:617713
Hypophosphatemic Rickets
Precocious puberty, Hyperthyroidism, Osteomalacia, Enthesitis, Parathyroid hyperplasia, Rickets, ... ORPHA:437
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Flexion contracture, Diabetes mellitus ORPHA:391372
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Osteopenia OMIM:211600
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... ORPHA:91347
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Poems Syndrome
Hypothyroidism, Increased circulating prolactin concentration, Hypogonadism, Sclerosis of foot bo... ORPHA:2905
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Stiff interphalangeal joints, Arthritis, Testicular atrophy, Diabetes mellitus, D... ORPHA:465508
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Joint laxity OMIM:607906
Li-Campeau Syndrome
Hypothyroidism OMIM:619189
Dermatosparaxis Ehlers-Danlos Syndrome
Osteomalacia, Rickets, Joint hyperflexibility, Osteopenia, Joint stiffness, Osteoporosis ORPHA:1901
Dent Disease 1
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... OMIM:300009
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Hypothyroidism, Hypohidrosis, Hyperhidrosis, Flexion contracture, Recurr... ORPHA:3206
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Advanced ossification of carpal bones, Congenital hypothyroidism OMIM:614613
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Hyperthyroidism, Recurrent fractures, Neoplasm of the thyroid gland, Abnormal... ORPHA:457059
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Adrenal insufficien... OMIM:240300
Pediatric-Onset Graves Disease
Hyperhidrosis, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... ORPHA:525731
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland ORPHA:1923
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Camptodactyly, Decreased circulating T4 concentration OMIM:608104
Adiposis Dolorosa
Hypothyroidism, Xerostomia, Arthritis ORPHA:36397
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Thyroid adenoma, Goiter OMIM:615108
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Hypothyroidism, Delayed puberty, Diabetes mellitus ORPHA:391408
Myasthenia Gravis
Hyperthyroidism, Rheumatoid arthritis, Primary adrenal insufficiency, Abnormality of the thymus, ... ORPHA:589
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Hypohidrosis, Congenital finger flexion contractures, Decreased response to growt... ORPHA:363528
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypohidrosis, Hypoparathyroidism ORPHA:1563
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Bilateral camptodactyly, Decreased response to growth hormone stimulation test, J... OMIM:619234
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Thyroid adenoma, Goiter OMIM:615109
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:218700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Hypothyroidism, Hyperthyroidism, Diabetes mellitus ORPHA:449291
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Pancreatitis, ... ORPHA:412057
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Diabetes mellitus OMIM:616026
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty OMIM:616817
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis, Osteomalacia OMIM:600740
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Joint hyperflexibility, Osteopenia ORPHA:2479
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Timothy Syndrome
Hypothyroidism OMIM:601005
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hypothyroidism, Hyperthyroidism, Type II diabetes mellitus, Primary adrenal insufficienc... OMIM:269200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Jung Syndrome
Hypothyroidism ORPHA:2321
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... ORPHA:398079
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Craniosynostosis, Arthrogryposis multiplex congenita ORPHA:254346
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Joint contracture, Osteopenia OMIM:618005
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Potocki-Lupski Syndrome
Hypothyroidism OMIM:610883
Congenital Hypothyroidism
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Abnormality of the thyroid gland, Thyroid... ORPHA:442
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism OMIM:619908
Cenani-Lenz Syndrome
Hypothyroidism, Synostosis of carpal bones, Radioulnar synostosis, Synostosis of joints ORPHA:3258
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98793
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Type I diabetes mellitus, Arthritis OMIM:304790
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test, Fused cervical vertebrae OMIM:609053
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177904
Dominant Beta-Thalassemia
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... ORPHA:231226
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177901
Celiac Disease, Susceptibility To, 1
Thyroiditis, Type I diabetes mellitus, Rickets, Delayed puberty, Osteoporosis OMIM:212750
Wolfram Syndrome 1
Hypothyroidism, Testicular atrophy, Diabetes mellitus, Diabetes insipidus OMIM:222300
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Camptodactyly, Type I diabetes mellitus, Hashimoto thyroiditis, Limited elbow ext... OMIM:613385
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypothyroidism, Foot joint contracture, Joint contracture of the hand, Achilles tendon contractur... ORPHA:456312
Smith-Magenis Syndrome
Hypothyroidism, Delayed puberty, Precocious puberty, Joint stiffness ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism, Cervical C2/C3 vertebral fusion OMIM:617796
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:398073
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypogonadism OMIM:617575
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Type I diabetes mellitus OMIM:615952
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... ORPHA:90674
Fanconi-Bickel Syndrome
Rickets, Diabetes mellitus, Osteopenia ORPHA:2088
Infantile Nephropathic Cystinosis
Rickets, Abnormality of thyroid physiology ORPHA:411629
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Thyroiditis, Thyroid adenoma, Goiter OMIM:158350
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Immunodeficiency 102
Hypothyroidism OMIM:301082
Dysbetalipoproteinemia
Gout, Hypothyroidism, Acute pancreatitis, Diabetes mellitus ORPHA:412
Lig4 Syndrome
Hypothyroidism OMIM:606593
Monosomy 18P
Hypothyroidism ORPHA:1598
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism ORPHA:300298
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Prader-Willi Syndrome
Central hypothyroidism, Increased susceptibility to fractures, Precocious puberty, Decreased resp... ORPHA:739
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism OMIM:618999
Neu-Laxova Syndrome
Flexion contracture, Hypogonadism, Osteomalacia, Rickets, Osteoporosis, Osteopenia, Arthrogryposi... ORPHA:2671
Beta-Thalassemia Major
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... ORPHA:231214
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Abnormality of thyroid physiology ORPHA:1830
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Congenital hypothyroidism, Decreased response to growth hormone stimulation test OMIM:601427
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Omenn Syndrome
Hypothyroidism, Thyroiditis ORPHA:39041
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Contractures of the large joints, Decreased response to growth hormone stimulatio... ORPHA:96179
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Abnormality of thyroid physiology OMIM:300968
Dent Disease
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... ORPHA:1652
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Hypothyroidism, Rheumatoid arthritis ORPHA:98808
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Hyperthyroidism, Generalized joint laxity ORPHA:502423
X-Linked Hypophosphatemia
Vertebral hyperostosis, Enthesitis, Arthritis, Limitation of joint mobility, Generalized osteoscl... ORPHA:89936
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Exocrine pa... ORPHA:1667
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Arthritis OMIM:614700
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Hypogonadism, Epiphyseal stipplin... OMIM:101800
Thyroid Ectopia
Hypothyroidism, Ectopic thyroid, Abnormality of the thyroid gland ORPHA:95712
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma ORPHA:276399
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Hyperthyroidism, Decreased response to growth hormone stimulation test, Osteoporo... ORPHA:488632
Nephrotic Syndrome, Type 1
Hypothyroidism OMIM:256300
Down Syndrome
Hypothyroidism, Joint laxity, Type II diabetes mellitus ORPHA:870
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Scleromyxedema
Abnormality of thyroid physiology ORPHA:167635
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Koolen-De Vries Syndrome
Hypothyroidism, Vertebral fusion, Joint hyperflexibility ORPHA:96169
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Flexion contracture, Hypogonadism, Hypothalamic lutei... ORPHA:398069
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Abnormality of endocrine pancreas physiology, Arthritis, Abnormality of exocrine ... ORPHA:93111
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Acute pancreatitis, Osteoporosis OMIM:619487
Megalocornea-Mental Retardation Syndrome
Osteopenia, Primary hypothyroidism OMIM:249310
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Thyroiditis, Camptodactyly, Type I diabetes mellitus ORPHA:228426
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Hypothyroidism, Diabetes mellitus ORPHA:263297
Familial Glucocorticoid Deficiency
Precocious puberty, Decreased circulating aldosterone level, Decreased circulating dehydroepiandr... ORPHA:361
Thyrotoxic Periodic Paralysis
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... ORPHA:79102
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Immunodeficiency 31C
Hypothyroidism, Osteomyelitis, Diabetes mellitus, Delayed puberty, Osteopenia OMIM:614162
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hypothyroidism, Flexion contracture, Hypergonadotropic hypogonadism OMIM:212065
Oculoskeletodental Syndrome
Hypothyroidism, Elbow flexion contracture OMIM:618440
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Gonadotropin deficiency, Decrease... OMIM:610978
Whipple Disease
Hypothyroidism, Arthritis ORPHA:3452
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism, Joint hypermobility OMIM:617930
Spondyloenchondrodysplasia
Arthritis, Hypothyroidism, Decreased response to growth hormone stimulation test, Juvenile rheuma... ORPHA:1855
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Distal Xq28 Microduplication Syndrome
Hypothyroidism ORPHA:293939
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism ORPHA:85321
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Sagittal craniosynostosis, Elevated circulating thyroid-stimulating hormone concentration, Diabet... OMIM:610199
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus OMIM:606367
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism ORPHA:397590
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism ORPHA:90065
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Rheumatoid arthritis, Sclerosis of skull base, Juvenile rheumatoid arthritis OMIM:607944
Ring Chromosome 12 Syndrome
Hypothyroidism, Symphalangism of the thumb ORPHA:1439
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Alexander Disease
Hypothyroidism, Hyperhidrosis, Precocious puberty, Diabetes mellitus, Osteopenia ORPHA:58
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Hyperthyroidism, Diabetes mellitus, Osteoporosis, Goiter ORPHA:254892
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Hyperthyroidism, Osteomyelitis, Thyroiditis, Type I diabetes mellitus, Abnormalit... ORPHA:37042
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:618922
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Increased susceptibility to fractures, Thyroiditis, Gout, Osteoporosis, Delayed p... ORPHA:79259
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Hyperthyroidism OMIM:617675
Brain-Lung-Thyroid Syndrome
Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentration, Compensated... ORPHA:209905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Craniosynostosis, Osteopenia ORPHA:453499
Monosomy 18Q
Hypothyroidism, Secondary growth hormone deficiency, Joint hypermobility ORPHA:1600
Microform Holoprosencephaly
Hypothyroidism, Maternal diabetes, Panhypopituitarism ORPHA:280200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1812
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Achilles tendon contracture, Diabetes mellitus, Delayed puberty, Exocrine pancrea... OMIM:616263
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Hypothyroidism, Thyroid hypoplasia, Joint hyperflexibility, Thyroid agen... ORPHA:3047
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Secondary Short Bowel Syndrome
Central hypothyroidism, Primary hypothyroidism ORPHA:95427
Pseudoxanthoma Elasticum
Hypothyroidism, Joint hyperflexibility ORPHA:758
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Hypogonadism, Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia ORPHA:221008
Trichohepatoneurodevelopmental Syndrome
Hypothyroidism, Recurrent pancreatitis, Distal arthrogryposis, Joint laxity, Exocrine pancreatic ... OMIM:618268
Andersen Cardiodysrhythmic Periodic Paralysis
Hyperthyroidism, Joint laxity OMIM:170390
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism, Reduced bone mineral density ORPHA:1556
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism OMIM:619147
Hallermann-Streiff Syndrome
Tracheomalacia, Hypothyroidism, Recurrent fractures, Reduced bone mineral density ORPHA:2108
Distal Renal Tubular Acidosis
Rickets, Increased susceptibility to fractures, Osteomalacia, Reduced bone mineral density ORPHA:18
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, In... ORPHA:769
Melas
Hypothyroidism, Recurrent pancreatitis, Type II diabetes mellitus, Type I diabetes mellitus, Diab... ORPHA:550
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hyperhidrosis, Hypothyroidism, Sagittal craniosynostosis, Lambdoidal craniosynostosis, Joint laxi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hyperhidrosis, Hypothyroidism, Sagittal craniosynostosis, Lambdoidal craniosynostosis, Joint laxi... ORPHA:352665
Wilson Disease
Osteomalacia, Joint hypermobility, Hypoparathyroidism, Osteoporosis, Osteoarthritis OMIM:277900
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Dilated Cardiomyopathy With Ataxia
Hypothyroidism ORPHA:66634
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Diabetes mellitus OMIM:616541
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Delayed ossification of carpal bones, Laryngotracheomalacia, Osteopenia, Limited elbow extension,... OMIM:271510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Type I diabetes mellitus, Delayed puberty, Generalized osteoporosis, Osteopenia, Abn... ORPHA:391487
Acrocardiofacial Syndrome
Camptodactyly of finger, Hyperthyroidism ORPHA:2008
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Diabetes mellitus, Delayed puberty, Hypophosphatemic rickets, Ri... OMIM:219800
Occipital Horn Syndrome
Osteomalacia, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint hyperflexibility, Oste... ORPHA:198
Mogs-Cdg
Hypothyroidism, Inappropriate antidiuretic hormone secretion ORPHA:79330
Familial Adenomatous Polyposis
Hypothyroidism, Thyroiditis, Pituitary adenoma, Neoplasm of the adrenal gland, Abnormality of the... ORPHA:733
Steinert Myotonic Dystrophy
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... ORPHA:273
Thymic Aplasia
Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Osteomalacia ORPHA:405
Ohdo Syndrome, Sbbys Variant
Hypothyroidism OMIM:603736
Abetalipoproteinemia
Hypothyroidism, Osteopenia ORPHA:14
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Joint laxity, Rickets, Osteopenia, Reduced bone mineral density OMIM:613658
Cerebrotendinous Xanthomatosis
Osteoporosis, Hypothyroidism, Osteopenia, Increased susceptibility to fractures ORPHA:909
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... ORPHA:363958
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Osteolysis ORPHA:1052
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Hyperaldosteronism, Recurrent fractures, Osteomalacia, Arthritis, Delayed pub... ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Rickets, Osteopenia, Abnormal calcium-phosphate regulating hormone level, Abnormall... ORPHA:2636
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Craniosynostosis OMIM:620005
Isolated Biliary Atresia
Hypothyroidism, Hypopituitarism ORPHA:30391
White-Kernohan Syndrome
Hypothyroidism, Joint laxity OMIM:619426
Martin-Probst Syndrome
Hypothyroidism OMIM:300519
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:618183
22Q11.2 Deletion Syndrome
Hypothyroidism, Hyperthyroidism, Hypoplasia of the thymus, Arthritis, Hypoparathyroidism, Joint h... ORPHA:567
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Hypophosphatemic rickets, Osteomalacia ORPHA:3337
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism OMIM:613673
Pearson Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Dia... ORPHA:699
Aicardi-Goutières Syndrome
Hypothyroidism, Multiple joint contractures, Diabetes mellitus, Arthritis ORPHA:51
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Joint contracture of the hand, Osteomalacia, Joint hypermobility, Ricket... OMIM:309000
Interstitial Lung And Liver Disease
Hypothyroidism OMIM:615486
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Arthritis OMIM:615846
Tuberous Sclerosis 1
Hypothyroidism, Precocious puberty OMIM:191100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Hypothyroidism, Increased circulating prolactin concentrat... ORPHA:438213
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Lymphatic Malformation 6
Hypothyroidism OMIM:616843
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
Gabriele-De Vries Syndrome
Hypothyroidism, Distal arthrogryposis, Decreased response to growth hormone stimulation test, Fin... ORPHA:506358
Sponastrime Dysplasia
Hypothyroidism, Precocious puberty, Generalized joint laxity, Ivory epiphyses of the phalanges of... ORPHA:93357
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Cervical C2/C3 vertebral f... ORPHA:444077
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
Hypothyroidism, Premature thelarche, Decreased response to growth hormone stimulation test, Poste... ORPHA:268261
Down Syndrome
Hypothyroidism, Joint laxity OMIM:190685
Tuberous Sclerosis 2
Hypothyroidism, Precocious puberty OMIM:613254
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus ORPHA:84064
Primrose Syndrome
Knee flexion contracture, Hypothyroidism, Flexion contracture, Hip contracture, Joint hypermobili... OMIM:259050
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Increased circulating gonadotropin level, Delayed puberty, Decreased serum testos... ORPHA:1772
Microphthalmia, Syndromic 2
Hypothyroidism, Flexion contracture, Adrenal insufficiency, Radioulnar synostosis, Contracture of... OMIM:300166
Wiedemann-Rautenstrauch Syndrome
Increased serum estradiol, Camptodactyly of finger, Increased circulating prolactin concentration... ORPHA:3455
Williams Syndrome
Hypothyroidism, Precocious puberty, Type II diabetes mellitus, Increased bone mineral density, Ra... ORPHA:904
Acrodysostosis With Multiple Hormone Resistance
Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calcitonin, Diabete... ORPHA:280651
Sarcoidosis
Hypothyroidism, Diabetes insipidus, Hyperthyroidism, Abnormality of the adrenal glands, Parotitis... ORPHA:797
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hypohidrosis, Increased circulating prolactin concentration, Gonadotropin... ORPHA:293987
Juvenile Nephropathic Cystinosis
Hypothyroidism ORPHA:411634
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Joint stiffness, Hypogonadism ORPHA:1606
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Williams-Beuren Syndrome
Hypothyroidism, Flexion contracture, Early onset of sexual maturation, Radioulnar synostosis, Joi... OMIM:194050
Coffin-Siris Syndrome 12
Hypothyroidism, Radioulnar synostosis, Joint laxity OMIM:619325
Microphthalmia, Syndromic 6
Female hypogonadism, Hypothyroidism, Anterior hypopituitarism, Lambdoidal craniosynostosis, Abnor... OMIM:607932
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia OMIM:619381
Beckwith-Wiedemann Syndrome
Hypothyroidism, Adrenocortical carcinoma, Pseudohypoparathyroidism, Exocrine pancreatic insuffici... ORPHA:116
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Congenital hypothyroidism, Hypothyroidism, Camptodactyly OMIM:607872
Generalized Arterial Calcification Of Infancy
Osteomalacia, Fused cervical vertebrae, Abnormal calcification of the carpal bones, Hypophosphate... ORPHA:51608
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Abnormality of the thymus, Parathyroid hypoplasia, Decr... OMIM:188400
Charge Syndrome
Hypothyroidism, Gonadotropin deficiency, Decreased response to growth hormone stimulation test, A... OMIM:214800
Genitopatellar Syndrome
Knee flexion contracture, Hypothyroidism, Radioulnar synostosis, Hip contracture OMIM:606170
Viss Syndrome
Hypothyroidism, Generalized joint laxity, Joint laxity, Joint hypermobility, Contracture of the p... OMIM:619472
Sotos Syndrome
Hypothyroidism, Bilateral camptodactyly, Flexion contracture, Hip contracture, Joint laxity, Ankl... ORPHA:821
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Joint laxity, Diabetes mellitus 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.

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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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