Gene Summary

Name:
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4
Synonyms:
0910001L09Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thyroid gland morphology Lamtor4em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thyroid gland Lamtor4em1(IMPC)Ccpcz HET Early adult 0.00
abnormal embryo size Lamtor4em1(IMPC)Ccpcz HOM E9.5 0.00
hypoactivity Lamtor4em1(IMPC)Ccpcz HET   Early adult 3.62×10-05
decreased thigmotaxis Lamtor4em1(IMPC)Ccpcz HET Early adult 8.21×10-05
preweaning lethality, complete penetrance Lamtor4em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal rib morphology Lamtor4em1(IMPC)Ccpcz HET   Early adult 1.24×10-05
abnormal behavior Lamtor4em1(IMPC)Ccpcz HET Early adult 8.22×10-05
embryonic lethality prior to tooth bud stage Lamtor4em1(IMPC)Ccpcz HOM   E12.5 0.00
increased neutrophil cell number Lamtor4em1(IMPC)Ccpcz HET Early adult 5.22×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

Human diseases caused by Lamtor4 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 Lamtor4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Attention deficit hyperactivity disorder, Increa... OMIM:188570
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Graves Disease, Susceptibility To, 1
Irritability, Graves disease, Goiter, Hyperactivity OMIM:275000
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Dyshormonogenesis 1
Hypothyroidism, Lethargy, Goiter OMIM:274400
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter, Ataxia OMIM:274240
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Pancytopenia, Progressive cerebellar ataxia, Primary... OMIM:210740
Myxedema
Hypothyroidism, Lethargy, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia, Hyperactivity OMIM:609152
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Depression, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Anxiety ORPHA:83601
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter, Nonprogressive cerebellar ataxia ORPHA:3327
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter OMIM:180295
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter, Nodular goiter ORPHA:319487
Blepharochalasis And Double Lip
Goiter OMIM:109900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Nodular goiter ORPHA:97290
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Lethargy, Decreased circulating T4 level, Elevated c... ORPHA:95716
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Pendred Syndrome
Goiter, Hypothyroidism, Ataxia, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Mood swing... ORPHA:525731
Genetic Transient Congenital Hypothyroidism
Lethargy, Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result,... ORPHA:226316
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Neoplasm of the adrenal cortex, Para... ORPHA:163634
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Depression, Decre... ORPHA:90674
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Pectus excavatum, Thyroid ad... OMIM:615108
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 level, Congenital hypothyroidism, Goiter, Elevated circulating thyroid-s... ORPHA:226313
Congenital Hypothyroidism
Goiter, Depression, Hypothyroidism, Abnormality of the thyroid gland, Anxiety, Hypogonadism, Thyr... ORPHA:442
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circula... ORPHA:99832
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Primary hyperparathyroidism, Nodular goiter, Medullary thy... ORPHA:1332
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Pectus excavatum, Thyroid ad... OMIM:615109
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Lymphopenia, Hypothyroidism, Pectus excavatu... OMIM:158350
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Lethargy, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating horm... OMIM:218700
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the ribs ORPHA:3268
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Neoplasm... ORPHA:457059
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Lethargy, Goiter, Gait ataxia, Depression, Hypothyroidism, Gait distu... ORPHA:254892
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Thyroid C cell hyperplasia, Parathyroid a... OMIM:171400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Superior rib anomalies, Male hypogonadism OMIM:307500
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoraci... OMIM:615633
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas... OMIM:160980
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Dystonia, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:209905
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Undulate ribs, Missing ribs ORPHA:1801
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Abnormality of the pituitary gland, Male hypogonadism, Elevated circ... ORPHA:91347
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter, Hashimoto thyroiditis OMIM:616858
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Elevated calcitonin, Pheochromocytoma, Pectus excavatum, Nodular goiter,... OMIM:162300
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Lethargy, Decreased circulating ... ORPHA:90673
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter, Premature thelarche ORPHA:371428
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Septopreoptic Holoprosencephaly
Anterior hypopituitarism, Impulsivity, Abnormality of the ribs, Central diabetes insipidus, Preco... ORPHA:280195
Cowden Syndrome
Goiter, Neoplasm of the thyroid gland, Pectus excavatum, Ataxia, Adenoma sebaceum, Abnormality of... ORPHA:201
Familial Multinodular Goiter
Ovarian neoplasm, Multinodular goiter, Sertoli cell neoplasm, Testicular seminoma, Thyroid carcinoma ORPHA:276399
Craniodiaphyseal Dysplasia
Abnormality of the ribs ORPHA:1513
Endosteal Hyperostosis, Worth Type
Abnormality of the ribs, Clavicular sclerosis ORPHA:2790
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Abnormality of the ribs, Decreased t... ORPHA:2234
Pten Hamartoma Tumor Syndrome
Thyroid adenoma, Thyroid carcinoma, Multinodular goiter ORPHA:306498
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest ORPHA:1354
Mosaic Trisomy 14
Abnormality of the ribs, Cryptorchidism, Narrow chest ORPHA:1703
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Neutropenia ORPHA:2643
Familial Adenomatous Polyposis
Goiter, Neoplasm of the adrenal gland, Thyroiditis, Hypothyroidism, Abnormality of the thyroid gl... ORPHA:733
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Pheochromocytoma, Thyroid nodule, Primary hyperparathyroidism, Elevated ... ORPHA:653
Hypophosphatasia
Abnormality of the ribs, Narrow chest, Irritability, Anemia ORPHA:436
Carney Complex
Pituitary growth hormone cell adenoma, Ovarian cyst, Increased urinary cortisol level, Elevated c... ORPHA:1359
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Broad ribs, Abnormal sternum morphology, Short ribs, Congenital hypothyroidism, A... ORPHA:2519
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Adrenal hypoplasia, Decreased circulating cortisol level, Rib... OMIM:146510
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the ribs, Short thorax, Missing ribs, Rib fusion OMIM:613686
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Elevated circulating parathyroid hormone level OMIM:122860
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Grant Syndrome
Abnormality of the ribs, Sprengel anomaly, Abnormality of the glenoid fossa, Narrow chest ORPHA:2097
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Autosomal Dominant Spondylocostal Dysostosis
Abnormality of the ribs, Short thorax, Posterior rib fusion, Missing ribs ORPHA:1797
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility, Anxiety OMIM:266265
Becker Nevus Syndrome
Pectus carinatum, Supernumerary ribs, Pectus excavatum, Rib fusion, Supernumerary nipple ORPHA:64755
Metatropic Dysplasia
Abnormality of the ribs, Narrow chest, Long thorax ORPHA:2635
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Cryptorchidism, Hypothyroidism, Ectopic thyroid, Thyroid hypoplasia, Thyroid dy... ORPHA:3047
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of the ribs, Narrow chest, Abnormal clavicle morphology ORPHA:93267
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Irregular chondrocostal junctions, Horizontal ribs, Short ribs OMIM:187760
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormality of the ribs, Decreased testicular size, Diabetes ... ORPHA:3242
Achondrogenesis Type 1B
Abnormality of the ribs, Short thorax, Narrow chest ORPHA:93298
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ribs, Abnormal clavicle morphology, Pectus excavatum, Abnormal reticulocyte mo... ORPHA:2522
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs OMIM:152800
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Cryptorchidism ORPHA:2772
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Narrow chest OMIM:618188
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Femoral-Facial Syndrome
Cryptorchidism, Maternal diabetes, Sprengel anomaly, Rib fusion, Abnormality of the ribs ORPHA:1988
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Thickened ribs, Splenomegaly OMIM:252920
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the ribs, Gait disturbance, Pectus carinatum ORPHA:93351
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Cryptorchidism, Abnormality of the ribs, Anemia OMIM:611209
Kenny-Caffey Syndrome, Type 1
Thin ribs, Congenital hypoparathyroidism, Anemia, Long clavicles, Thin clavicles OMIM:244460
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Isolated Klippel-Feil Syndrome
Abnormality of the ribs, Abnormal shoulder morphology, Sprengel anomaly ORPHA:2345
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Pectus excavatum, Beaded ribs OMIM:259440
Achondrogenesis Type 1A
Short thorax, Multiple rib fractures, Narrow chest ORPHA:93299
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion OMIM:609813
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Cupped ribs ORPHA:168549
Lethal Congenital Contracture Syndrome 10
Broad ribs, Narrow chest, Hypoplasia of the thymus, Torticollis, Thoracic scoliosis OMIM:617022
White Forelock With Malformations
Abnormality of the ribs, Sprengel anomaly ORPHA:2475
Diastrophic Dwarfism
Abnormality of the ribs, Cryptorchidism, Abnormal clavicle morphology ORPHA:628
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs OMIM:617895
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the ribs, Cryptorchidism, Pectus carinatum ORPHA:3082
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Hypoplastic scapulae, Short ribs, Thyroid hypoplasia, Short clavicles OMIM:308050
Fibrochondrogenesis
Broad ribs, Narrow chest, Hypoplastic scapulae, Bell-shaped thorax, Short ribs, Abnormality of th... ORPHA:2021
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Cupped ribs, Short ribs ORPHA:1145
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Thickened ribs, Splenomegaly OMIM:252900
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Ovarian cyst, Elevated circulating growth hormone concentration, In... ORPHA:249
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Congenital hypoparathyroidism, Thin clavicles ORPHA:93324
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs ORPHA:2578
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs ORPHA:2145
Kbg Syndrome
Cryptorchidism, Thoracic kyphosis, Rib fusion, Cervical ribs OMIM:148050
Achondrogenesis, Type Ia
Hypoplastic scapulae, Beaded ribs, Short ribs, Broad clavicles, Short clavicles, Barrel-shaped chest OMIM:200600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Abnormality of the ribs, Pectus carinatum ORPHA:3068
Prune Belly Syndrome
Abnormality of the ribs, Cryptorchidism, Decreased testicular size, Pectus excavatum ORPHA:2970
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormality of the spleen ORPHA:93941
Holt-Oram Syndrome
Abnormal clavicle morphology, Pectus excavatum, Sprengel anomaly, Down-sloping shoulders, Abnorma... ORPHA:392
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of the ribs, Sprengel anomaly ORPHA:2180
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Short thorax, Rib segmentation abnormalities, Rib fusion, Abnormality of the ribs ORPHA:2311
Phace Syndrome
Hypothyroidism, Ectopic thyroid, Abnormal sternum morphology ORPHA:42775
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the ribs, Missing ribs ORPHA:2759
Trisomy 13
Abnormality of the ribs, Cryptorchidism, Narrow chest ORPHA:3378
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly OMIM:601076
Staphylococcal Necrotizing Pneumonia
Lethargy, Leukocytosis, Increased circulating procalcitonin concentration, Leukopenia, Neutrophil... ORPHA:36238
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Splenomegaly, Neutrophilia, Abscess OMIM:612852
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Nestor-Guillermo Progeria Syndrome
Abnormality of the ribs, Progressive clavicular acroosteolysis OMIM:614008
Fibrochondrogenesis 1
Anterior rib cupping, Thoracic hypoplasia, Hypoplastic scapulae, Short ribs, Thin ribs, Posterior... OMIM:228520
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Cryptorchidism ORPHA:456328
Dyggve-Melchior-Clausen Disease
Inability to walk, Short thorax, Broad ribs, Difficulty walking, Pectus carinatum, Horizontal inf... ORPHA:239
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Short ribs, Narrow chest OMIM:151210
Cooper-Jabs Syndrome
Abnormality of the ribs, Missing ribs ORPHA:1488
Aspergillosis
Abnormality of the ribs, Neutropenia, Eosinophilia ORPHA:1163
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ribs ORPHA:1836
Oculocerebrocutaneous Syndrome
Abnormality of the ribs, Cryptorchidism, Missing ribs ORPHA:1647
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the ribs ORPHA:1486
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Thickened ribs, Splenomegaly OMIM:252930
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion OMIM:277300
Achondrogenesis, Type Ii
Barrel-shaped chest, Horizontal ribs, Short ribs OMIM:200610
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Asymmetry of the thorax OMIM:604922
Acrocapitofemoral Dysplasia
Narrow chest, Pectus carinatum, Pectus excavatum, Short ribs, Cupped ribs OMIM:607778
Craniofaciofrontodigital Syndrome
Abnormality of the ribs, Abnormal shoulder morphology, Narrow chest ORPHA:363705
Campomelia, Cumming Type
Abnormality of the ribs, Pancreatic cysts, Abnormal thorax morphology ORPHA:1318
Microphthalmia, Syndromic 3
Cryptorchidism, Rib fusion, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Supernu... OMIM:206900
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Cenani-Lenz Syndrome
Abnormality of the ribs, Hypothyroidism ORPHA:3258
Mucopolysaccharidosis Type 4
Abnormality of the ribs, Gait disturbance, Short thorax, Pectus carinatum ORPHA:582
Trisomy 1Q
Abnormality of the ribs, Cryptorchidism, Short thorax ORPHA:261344
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Beaded ribs, Short ribs, Multiple rib fractures OMIM:616897
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Thickened ribs, Splenomegaly OMIM:252940
Melnick-Needles Syndrome
Abnormality of the ribs, Short thorax, Narrow chest, Short clavicles ORPHA:2484
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ribs, Abnormality of the spleen, Missing ribs ORPHA:1834
Juberg-Hayward Syndrome
Abnormality of the ribs ORPHA:2319
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, 11 pairs of ribs OMIM:300863
Three M Syndrome 2
Pectus carinatum, Thin ribs, Short thorax, Scapular winging OMIM:612921
Autosomal Dominant Centronuclear Myopathy
Difficulty walking, Cryptorchidism, Thin ribs ORPHA:169189
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
3M Syndrome
Short thorax, Scapular winging, Enlarged thorax, Horizontal ribs, Thin ribs ORPHA:2616
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Thoracic kyphosis, Thin ribs, Prominent sternum OMIM:300232
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the ribs, Sprengel anomaly OMIM:118100
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Self-mutilation, Narrow chest, Decreased response to growth hormone stimuation test, Rib fusion, ... OMIM:213980
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Broad ribs, Short ribs, Short clavicles OMIM:610319
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Self-injurious behavior, Bilateral cryptorchidism, Rib fusion, Attention def... ORPHA:544488
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Pectus carinatum, Gait disturbance, Pectus excavatum, Blepharospasm... ORPHA:800
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Akinesia OMIM:253290
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Cryptorchidism, Missing ribs ORPHA:3301
Poland Syndrome
Cryptorchidism, Pectus carinatum, Abnormal sternum morphology, Sprengel anomaly, Short ribs, Asym... ORPHA:2911
Ellis-Van Creveld Syndrome
Cryptorchidism, Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs OMIM:225500
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs OMIM:618265
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the ribs, Cryptorchidism, Unilateral chest hypoplasia OMIM:308205
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:3206
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Narrow chest, Abnormal response to hu... ORPHA:95699
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Disinhibition, Aggressive behavior, Hypersexuality, Gait disturbanc... ORPHA:581
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Pancreatic cysts, Horizontal ribs, Pancreatic fibrosis, Shor... OMIM:208500
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormality of the ribs, Cryptorchidism, Pectus excavatum ORPHA:2215
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Long clavicles, Splenomegaly OMIM:608149
Hallermann-Streiff Syndrome
Cryptorchidism, Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Hyperactivity, Decreas... OMIM:234100
Treacher-Collins Syndrome
Cryptorchidism, Blepharospasm, Hypoplasia of the thymus, Thyroid hypoplasia, Abnormality of the a... ORPHA:861
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Splenomegaly ORPHA:3035
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Dextrocardia
Abnormality of the ribs, Abnormality of the spleen, Pancreatic hypoplasia ORPHA:1666
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Lateral clavicle hook, Breast hypoplasia, Pectus carinatum,... OMIM:224690
Microcephaly-Micromelia Syndrome
Abnormality of the ribs, Narrow chest OMIM:251230
Cartilage-Hair Hypoplasia
Short thorax, Narrow chest, Pectus carinatum, Neutropenia, Anemia, Abnormality of the ribs, Flari... ORPHA:175
Osteogenesis Imperfecta, Type Ii
Beaded ribs OMIM:166210
Dysosteosclerosis
Broad ribs, Narrow chest, Short sternum, Short ribs, Clavicular sclerosis, Sclerotic scapulae OMIM:224300
Alagille Syndrome
Abnormality of the ribs, Cryptorchidism, Delayed puberty ORPHA:52
Cleidocranial Dysplasia
Narrow chest, Hypoplastic scapulae, Down-sloping shoulders, Short clavicles, Abnormality of the ribs ORPHA:1452
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs OMIM:609616
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Pectus carinatum, Horizontal ribs, Pancreatic fibrosis, Shor... OMIM:263520
Mosaic Trisomy 8
Abnormality of the ribs, Cryptorchidism, Decreased testicular size, Narrow chest ORPHA:96061
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs ORPHA:1394
Antley-Bixler Syndrome
Abnormality of the ribs, Narrow chest ORPHA:83
Microcephaly, Short Stature, And Limb Abnormalities
Abnormality of the ribs OMIM:617604
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Rib fusion OMIM:157800
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Pectus carinatum, Sprengel anomaly, Hypoplastic scapulae, Thin ribs ORPHA:958
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Basal Cell Nevus Syndrome
Abnormal sternum morphology, Sprengel anomaly, Down-sloping shoulders, Short ribs, Ovarian carcin... OMIM:109400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Thyroid hypop... ORPHA:2166
Autosomal Recessive Multiple Pterygium Syndrome
Cryptorchidism, Abnormal sternum morphology, Gait disturbance, Pectus excavatum, Rib fusion, Hypo... ORPHA:2990
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology ORPHA:171430
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Narrow chest, Bell-shaped thorax, Horizontal ribs, Short ribs OMIM:616300
Campomelic Dysplasia
Thoracic hypoplasia, Hypoplastic scapulae, Thin ribs, 11 pairs of ribs, Absent sternal ossification OMIM:114290
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Rib fusion, Attention deficit hyperactivity disorder ORPHA:261197
Cole-Carpenter Syndrome 2
Thin ribs, Pectus excavatum OMIM:616294
Monosomy 9Q22.3
Abnormality of the ribs, Ovarian fibroma, Pectus excavatum, Hyperactivity ORPHA:77301
Phaver Syndrome
Abnormality of the ribs ORPHA:2876
Vacterl/Vater Association
Abnormality of the ribs, Cryptorchidism ORPHA:887
Osteogenesis Imperfecta, Type Xvi
Beaded ribs OMIM:616229
Pontine Tegmental Cap Dysplasia
Dysmetria, Rib fusion, Ataxia OMIM:614688
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Hurler Syndrome
Abnormality of the ribs, Abnormal clavicle morphology, Depression, Splenomegaly ORPHA:93473
Gm1-Gangliosidosis, Type I
Thickened ribs, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Short-Rib Thoracic Dysplasia 12
Short thorax, Narrow chest, Hypoplastic scapulae, Horizontal ribs, Short ribs, Hypoplastic nipple... OMIM:269860
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Adrenal hypoplasia, Primary adrenal insufficiency, Pituitary ... ORPHA:672
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Lateral clavicle hook, Pectus carinatum, Pectus excavatum, Thin ribs, Supernumera... OMIM:182212
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs OMIM:608940
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Abnormal calcium-phosphate regulating hormone level, Depression, Self-injurious b... ORPHA:534
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Depression, Pectus carinatum, Pectus excavatum, Ataxia, Pancytopenia, Anxiety, He... ORPHA:309282
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs ORPHA:1120
Osteogenesis Imperfecta, Type X
Thin ribs, Broad ribs, Narrow chest OMIM:613848
Mucolipidosis Iii Alpha/Beta
Broad ribs, Short ribs OMIM:252600
Sclerosteosis 1
Broad clavicles, Broad ribs, Sclerotic scapulae OMIM:269500
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormality of the ribs, Cryptorchidism ORPHA:1300
Multiple Pterygium Syndrome, X-Linked
Thin ribs OMIM:312150
Holzgreve Syndrome
Abnormality of the ribs ORPHA:2167
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Abnormal thorax morphology, Narrow chest ORPHA:73230
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs OMIM:618395
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Coat hanger sign of ribs, Thoracic hypoplasia, Pectus excavatum, Prominent sternum ORPHA:254528
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Short ribs, Long thorax, Absent gallbladder OMIM:617925
Kniest-Like Dysplasia, Lethal
Short ribs, Broad ribs, Narrow chest OMIM:245190
Osteogenesis Imperfecta, Type Iii
Thin ribs OMIM:259420
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Missing ribs, Rib fusion, Short ribs OMIM:271520
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Flat glenoid fossa, Irregular chondrocostal junctions, Cupped ribs, Short ribs OMIM:250420
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Pectus excavatum, Abnormality of the thymus ORPHA:2463
Mucopolysaccharidosis Type 6
Broad ribs, Splenomegaly ORPHA:583
Lethal Congenital Contracture Syndrome 5
Thin ribs OMIM:615368
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Maternal diabetes, Short sternum, Short ribs, Thin ribs OMIM:266910
Mucopolysaccharidosis, Type Iva
Flaring of rib cage, Prominent sternum OMIM:253000
Cole-Carpenter Syndrome
Abnormality of the ribs ORPHA:2050
Mucopolysaccharidosis, Type Ivb
Flaring of rib cage, Prominent sternum OMIM:253010
Osteogenesis Imperfecta
Narrow chest, Pectus carinatum, Thoracic hypoplasia, Gait disturbance, Loss of ability to walk, P... ORPHA:666
Aicardi Syndrome
Rib fusion, Delayed puberty, Supernumerary ribs, Missing ribs, Precocious puberty, Bifid ribs ORPHA:50
Van Den Ende-Gupta Syndrome
Thin ribs, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus excavatum OMIM:600920
Gracile Bone Dysplasia
Thin ribs, Hypoplastic spleen, Asplenia OMIM:602361
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Short ribs OMIM:613091
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
11 pairs of ribs, Cryptorchidism, Rib fusion, Narrow chest ORPHA:94095
Xylt1-Cdg
Broad ribs, Short clavicles ORPHA:370930
Familial Osteodysplasia, Anderson Type
Abnormality of the ribs, Aplastic clavicle, Missing ribs ORPHA:2769
Craniofaciofrontodigital Syndrome
Pectus excavatum, Broad ribs OMIM:114620
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of the ribs ORPHA:85167
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia, Sterile abscess, Neutro... ORPHA:3243
Frontometaphyseal Dysplasia 1
Coat hanger sign of ribs, Scapular winging OMIM:305620
Mucopolysaccharidosis, Type Vi
Prominent sternum, Broad ribs, Splenomegaly OMIM:253200
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Myhre Syndrome
Abnormality of the ribs, Cryptorchidism, Hypogonadism, Precocious puberty ORPHA:2588
Pagod Syndrome
Abnormality of the ribs, Abnormal clavicle morphology, Abnormality of the spleen, Abnormal testis... ORPHA:991
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Anterior rib cupping, Cryptorchidism, Absent glenoid fossa, Prominent sternum, Narrow chest, Thor... ORPHA:96334
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Horizontal ribs, Short ribs, Short clavicles, Splenomegaly OMIM:617088
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormality of the ribs, Abnormal scapula morphology, Narrow chest ORPHA:93317
Trisomy 18
Abnormality of the ribs, Cryptorchidism ORPHA:3380
Occipital Horn Syndrome
Broad ribs, Narrow chest, Pectus carinatum, Pectus excavatum, Broad clavicles, Short clavicles OMIM:304150
Short Rib-Polydactyly Syndrome
Narrow chest, Thoracic hypoplasia, Hypoplastic scapulae, Horizontal ribs, Short ribs ORPHA:1505
Acrorenal-Mandibular Syndrome
Absent nipple, Narrow chest, Hypoplastic scapulae, Thin ribs, Missing ribs OMIM:200980
Otopalatodigital Syndrome Type 2
Abnormality of the ribs, Narrow chest ORPHA:90652
Multiple Pterygium Syndrome, Escobar Variant
Hypoplastic nipples, Cryptorchidism, Long clavicles, Rib fusion OMIM:265000
Osteogenesis Imperfecta, Type Xviii
Thin ribs OMIM:617952
Aicardi Syndrome
Rib fusion, Supernumerary ribs, Missing ribs, Precocious puberty, Bifid ribs OMIM:304050
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs ORPHA:85184
Hypertrichotic Osteochondrodysplasia, Cantu Type
Broad ribs, Narrow chest ORPHA:1517
1P36 Deletion Syndrome
Cryptorchidism, Hypothyroidism, Abnormality of the spleen, Gait disturbance, Self-injurious behav... ORPHA:1606
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Ataxia, Impaired tandem gait, Anemia, Neutrophilia ORPHA:99843
Japanese Encephalitis
Neutrophilia, Dystonia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Kyphomelic Dysplasia
Undulate ribs, Thoracic hypoplasia, Lateral clavicle hook, Anterior rib cupping OMIM:211350
Pyknoachondrogenesis
Short thorax, Horizontal ribs, Short ribs, Enlarged thorax ORPHA:3003
Ear-Patella-Short Stature Syndrome
Abnormality of the ribs, Cryptorchidism, Aplastic clavicle, Breast aplasia ORPHA:2554
Smith-Lemli-Opitz Syndrome
Abnormality of the ribs, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity... ORPHA:818
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Bell-shaped thorax, Anomalous rib insertion to vertebrae, Rib gap, 11 pairs ... OMIM:117650
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Polysplenia, Pectus excavatum, Splenomegaly, Abnormality of the ribs, Supernumera... ORPHA:373
Craniometadiaphyseal Dysplasia
Broad ribs OMIM:269300
Stuve-Wiedemann Syndrome
Thin ribs OMIM:601559
Schinzel-Giedion Midface Retraction Syndrome
Broad ribs, Short sternum, Splenopancreatic fusion, Hypoplastic nipples, Long clavicles, Hypoplas... OMIM:269150
Cranioectodermal Dysplasia 2
Narrow chest, Polysplenia, Pectus excavatum, Horizontal ribs, Short ribs, Splenomegaly, Bile duct... OMIM:613610
Charge Syndrome
Cryptorchidism, Abnormality of the ribs, Hypothyroidism, Lymphopenia, Down-sloping shoulders, Apl... OMIM:214800
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Pectus excavatum, Missing ribs, Rib fusion OMIM:268310
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Thoracic hypoplasia, Bell-shaped thorax ORPHA:254519
Coccidioidomycosis
Broad ribs, Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Abnormality of the endoc... ORPHA:228123
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Cholelithiasis, Biliary hyperplasia, Thin ribs, Pancrea... ORPHA:83617
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Broad ribs, Broad clavicles OMIM:151050
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Pectus excavatum, Broad ribs, Straight clavicles OMIM:300373
Charge Syndrome
Cryptorchidism, Abnormality of the ribs, Delayed puberty, Hypogonadotropic hypogonadism, Anterior... ORPHA:138
Eiken Syndrome
Broad ribs OMIM:600002
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Radio-Renal Syndrome
Abnormality of the ribs ORPHA:3015
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abnormal thorax morphology, Rib fusion, Ataxia, Rib segmentation abnormalities ORPHA:280
X-Linked Hypophosphatemia
Rachitic rosary, Tooth abscess, Beaded ribs, Enlargement of the costochondral junction ORPHA:89936
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Hepatosplenomegaly, Leukocytosis OMIM:260920
Schinzel-Giedion Syndrome
Myeloid leukemia, Abnormal clavicle morphology, Broad ribs, Central hypothyroidism, Abnormal thor... ORPHA:798
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Orchitis, Leukocytosis OMIM:249100
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Horizontal inferior border of scapula, Short ribs, 11 pairs of ribs, Cupped ribs OMIM:250220
Fryns Syndrome
Cryptorchidism, Broad ribs, Thoracic hypoplasia, Polysplenia, Ectopic pancreatic tissue, Thin ribs OMIM:229850
Ulbright-Hodes Syndrome
Cryptorchidism, Maternal diabetes, Short sternum, Short ribs, Thin ribs, Abnormality of the ribs ORPHA:3404
Monosomy 9P
Abnormality of the ribs, Cryptorchidism ORPHA:261112
Alagille Syndrome 1
Abnormality of the ribs, Papillary thyroid carcinoma OMIM:118450
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction ORPHA:79345
Osteogenesis Imperfecta, Type Viii
Thin ribs, Barrel-shaped chest OMIM:610915
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Abnormal rib cage morphology, Flaring of rib cage, Cupped ribs, 11 pairs of ribs OMIM:271640
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Pectus excavatum, Torticollis, Short clavicles, Undulate ribs OMIM:609945
Hereditary Acrokeratotic Poikiloderma
Abnormality of the ribs ORPHA:2907
Autosomal Recessive Malignant Osteopetrosis
Abnormality of the ribs, Narrow chest, Anemia, Splenomegaly ORPHA:667
Weill-Marchesani Syndrome 1
Broad ribs OMIM:277600
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin ribs, Congenital adrenal hypop... ORPHA:1662
Myhre Syndrome
Cryptorchidism, Broad ribs, Ataxia OMIM:139210
Kindler Epidermolysis Bullosa
Abnormality of the ribs, Anemia ORPHA:2908
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Anemia, Splenomegaly OMIM:612301
Robinow Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Missing ribs, Rib fusion ORPHA:97360
Femoral-Facial Syndrome
Cryptorchidism, Maternal diabetes, Sprengel anomaly, Rib fusion, Missing ribs OMIM:134780
Autosomal Recessive Robinow Syndrome
Pectus carinatum, Cryptorchidism, Pectus excavatum, Rib fusion ORPHA:1507
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Elevated hemoglobin A1c, Pectus excavatum, Supernumerary ribs OMIM:619127
Zttk Syndrome
Rib fusion, Absent gallbladder, Cervical ribs OMIM:617140
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Prominent sternum, Broad ribs, Pectus carinatum, Broad clavicles, Hypoplastic nip... OMIM:276820
Weill-Marchesani Syndrome 2
Broad ribs OMIM:608328
Fetal Akinesia Deformation Sequence 1
Thin ribs, Cryptorchidism, Thoracic hypoplasia OMIM:208150
Chromosome 1P36 Deletion Syndrome
Self-mutilation, Cryptorchidism, Aggressive behavior, Hypothyroidism, Rib fusion, Congenital hypo... OMIM:607872
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Cryptorchidism, Truncal ataxia, Increased serum testosterone level OMIM:264090
Camptodactyly Syndrome, Guadalajara Type 3
Abnormality of the ribs ORPHA:488434
Townes-Brocks Syndrome
Abnormality of the ribs, Cryptorchidism, Delayed puberty, Hypothyroidism ORPHA:857
Wolf-Hirschhorn Syndrome
Cryptorchidism, Accessory spleen, Abnormal sternal ossification, Rib fusion, Rib segmentation abn... OMIM:194190
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Multiple rib fractures, Narrow chest OMIM:610682
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Hepatosplenomegaly, Splenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Hepatosplenomegaly, Splenomegaly ORPHA:217093
Cog1-Cdg
Posterior rib gap, Hepatosplenomegaly, Rib fusion ORPHA:263508
Baller-Gerold Syndrome
Rib fusion OMIM:218600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cervical ribs, Absent gallbladder, Rib fusion ORPHA:500150
Vater/Vacterl Association
Abnormality of the ribs, Abnormal sternum morphology OMIM:192350

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 Lamtor4

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 Lamtor4.

No publications found that use IMPC mice or data for Lamtor4.

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MGI Allele Allele Type Produced
Lamtor4em1(IMPC)Ccpcz Exon Deletion Mice
Lamtor4tm1e(KOMP)Wtsi Targeted, non-conditional allele Targeting vectors, ES Cells

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