Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
diencephalon/mesencephalon homeobox 1
Synonyms:
Otx3,  Dmbx1,  Mbx,  Atx,  Cdmx

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dmbx1 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 Dmbx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hereditary Central Diabetes Insipidus
Weight loss, Diabetes insipidus, Polydipsia, Lethargy ORPHA:30925
Carcinoma Of Esophagus
Weight loss, Dysphagia, Obesity ORPHA:70482
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Small for gestational age ORPHA:85288
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Graves Disease, Susceptibility To, 1
Goiter, Polyphagia, Weight loss, Hyperactivity, Graves disease OMIM:275000
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Pulmonary Blastoma
Weight loss ORPHA:64741
Immunodeficiency 8
Hyperactivity OMIM:615401
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Child... ORPHA:71529
Tuberculosis
Weight loss ORPHA:3389
Huntington Disease-Like 2
Dystonia, Gait disturbance, Weight loss ORPHA:98934
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Postnatal growth retardation, Short stature OMIM:616113
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Juvenile Huntington Disease
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... ORPHA:248111
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Failure to thrive, Weight loss, Lethargy ORPHA:178029
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus, Polydipsia ORPHA:95626
Spinocerebellar Ataxia 48
Dystonia, Dysphagia, Cachexia, Dysmetria, Ataxia, Gait ataxia OMIM:618093
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Oromandibular Dystonia
Dysphagia, Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Generalized dystonia, ... ORPHA:93958
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Weight loss ORPHA:411593
Huntington Disease-Like 2
Dystonia, Weight loss, Bradykinesia OMIM:606438
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Slender build, Weight loss OMIM:613662
Obesity Due To Sim1 Deficiency
Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia, Polyphagia ORPHA:369873
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Polyphagia, Decreased body mass index, Choking episod... ORPHA:399
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dysphagia, Weight loss, Inability to walk, Generalized dystonia, Tip-toe gait, ... ORPHA:216866
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Medullary Thyroid Carcinoma
Dysphagia, Weight loss, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism,... ORPHA:1332
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Loss of ability to walk, Oral-pharyngeal dy... ORPHA:98897
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age OMIM:609425
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Lethargy OMIM:274270
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipodystrophy,... ORPHA:435660
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Christianson Syndrome
Dystonia, Dysphagia, Cachexia, Arthrogryposis multiplex congenita, Truncal ataxia, Gait ataxia ORPHA:85278
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Isaac Syndrome
Weight loss ORPHA:84142
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Lipodystrophy, Reduced subcutaneous adipose tissue, Lipoatrophy, Type I di... ORPHA:1979
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipodystrophy,... ORPHA:435651
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Riboflavin Transporter Deficiency
Dysphagia, Cachexia, Diabetes insipidus, Hypogonadism, Ataxia ORPHA:97229
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Lipodystrophy, Decreased adiponectin level, Increased intraa... ORPHA:79085
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Mulibrey Nanism
Cachexia ORPHA:2576
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia, Flexion contracture ORPHA:157973
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss, Hyperactivity, Hyperthyroidi... ORPHA:424
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Rett Syndrome
Dystonia, Gait disturbance, Failure to thrive, Bradykinesia, Inability to walk, Increased serum l... ORPHA:778
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight OMIM:618342
Autism Spectrum Disorder Due To Auts2 Deficiency
Umbilical hernia, Small for gestational age, Arthrogryposis multiplex congenita, Joint contractur... ORPHA:352490
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Dystonia, Dysphagia, Arm dystonia, Cachexia, Axial... ORPHA:300605
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Weight loss, Increased circulating cortisol leve... ORPHA:97289
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized lipodystr... ORPHA:363400
Anaplastic Thyroid Carcinoma
Dysphagia, Goiter, Weight loss, Anaplastic thyroid carcinoma, Nodular goiter ORPHA:142
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Weight loss, Hyperactivity, Hyperthyroidism, Activating thyroid-stim... ORPHA:99819
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Fatal Familial Insomnia
Ataxia, Dysphagia, Weight loss OMIM:600072
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Reticular Dysgenesis
Failure to thrive, Weight loss, Aplasia/Hypoplasia of the thymus ORPHA:33355
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615286
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Pseudomyxoma Peritonei
Weight loss, Hernia ORPHA:26790
Inflammatory Pseudotumor Of The Liver
Weight loss, Diabetes mellitus ORPHA:90003
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus ORPHA:317
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Lethargy OMIM:143880
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Elbow flexion contracture OMIM:619470
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive OMIM:617865
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Neoplasm of the thyroid gland ORPHA:388
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Small for gestational age, Hyperactivity, Hyperthyroidism OMIM:609152
Carney-Stratakis Syndrome
Weight loss, Dysphagia, Paraganglioma ORPHA:97286
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hypergonadotropic hypogonadism ORPHA:298
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormality of body weight, Type II diabetes mellitus, Abnorm... ORPHA:2298
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Huntington Disease-Like 1
Gait disturbance, Dysmetria, Weight loss, Bradykinesia, Gait ataxia ORPHA:157941
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Perry Syndrome
Dystonia, Weight loss, Bradykinesia, Short stepped shuffling gait, Akinesia OMIM:168605
Eosinophilic Fasciitis
Cellulitis, Fasciitis, Weight loss ORPHA:3165
Flynn-Aird Syndrome
Cachexia, Type II diabetes mellitus, Primary adrenal insufficiency, Ataxia, Abnormality of the th... ORPHA:2047
Ck Syndrome
Hyperactivity, Slender build ORPHA:251383
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Enamel hypoplasia, Cachexia OMIM:610965
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Focal Myositis
Weight loss ORPHA:48918
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hyperactivity, Hypothyroidism, Oral-pharyngeal dysp... OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Precocious puberty, Broad-based gait OMIM:300958
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Inc... ORPHA:280365
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hyperthyroidism, Goiter OMIM:613239
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Dysphagia, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Mast Cell Sarcoma
Weight loss ORPHA:66661
Ck Syndrome
Hyperactivity, Slender build OMIM:300831
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Gm1 Gangliosidosis
Dystonia, Dysphagia, Gait disturbance, Failure to thrive, Weight loss, Ataxia, Oral aversion, Cam... ORPHA:354
Pediatric-Onset Graves Disease
Increased circulating T4 level, Polydipsia, Polyphagia, Failure to thrive, Goiter, Puberty and go... ORPHA:525731
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Limb joint contracture, Cachexia, Arthrogryposis multiplex congenita, Flexion contracture OMIM:618186
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism ORPHA:95427
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Weight loss, Shuffling gait, Bradykinesia, Akinesia ORPHA:411602
Follicular Lymphoma
Weight loss ORPHA:545
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Abnormal eating behavior ORPHA:101039
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Hernia ORPHA:1842
Aredyld Syndrome
Cachexia, Type II diabetes mellitus, Abnormal dental enamel morphology, Lipoatrophy, Type I diabe... ORPHA:1133
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss, Lethargy ORPHA:79242
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait, Obesity ORPHA:3077
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Hyperactivity, Ataxia ORPHA:52503
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue,... OMIM:608594
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Thymic Carcinoma
Weight loss, Neoplasm of the thymus ORPHA:99868
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Pemphigus Vulgaris
Weight loss, Atypical scarring of skin ORPHA:704
Perry Syndrome
Weight loss ORPHA:178509
Pfapa Syndrome
Weight loss ORPHA:42642
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue,... OMIM:269700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Truncal obesity, Hypogonadism, Hyperactivity, Atten... ORPHA:73272
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss, Abnormal circulating aldosterone, Glucocortocoid-insen... ORPHA:171876
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Failure to thrive in infancy, Cachexia, Ataxia ORPHA:702
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia OMIM:614104
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Gait imbalance, Abnormal eating behavior, Hyperactivity, Ataxia, Broad-based gait, Obe... ORPHA:98794
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Congenital hypothyroidism, Failur... ORPHA:361
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Inability to walk, Hip contracture, Cachexia OMIM:616801
Eosinophilic Gastroenteritis
Weight loss, Dysphagia ORPHA:2070
Isolated Succinate-Coq Reductase Deficiency
Loss of ability to walk, Ataxia, Weight loss, Knee flexion contracture ORPHA:3208
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity ORPHA:412035
Short Syndrome
Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Diabetes mellitus, Inguinal hernia ORPHA:3163
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Weight loss, Decreas... ORPHA:199299
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Choking episodes, Hyperactivity, Ataxia, Flexion contracture, Unstead... ORPHA:35069
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis ORPHA:86884
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia, Camptodactyly of finger ORPHA:2774
Gerstmann-Straussler Disease
Weight loss, Bradykinesia, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:137440
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysphagia, Dysmetria, Hamstring contractures, Primary adrenal insufficiency, Hy... ORPHA:139396
Brain-Lung-Thyroid Syndrome
Dystonia, Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Failure to t... ORPHA:209905
Mcdonough Syndrome
Cachexia ORPHA:2471
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Ataxia, Lethargy ORPHA:42
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Androgen insufficiency, Failure to thrive, Weight loss, ... ORPHA:95409
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Weight loss, Increased circulating cortisol level, Pulmonary carcinoid... ORPHA:97287
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Testicular atrophy, Hypogonadotropic hypogonadism, Weight loss, Diabetes mellitus, Hypo... ORPHA:465508
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Liposarcoma
Weight loss ORPHA:69078
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Hyperactivity, Dysphagia, Congenital finger flexio... ORPHA:166108
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Osteosarcoma
Weight loss ORPHA:668
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia ORPHA:228402
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Hyperactivity, Abdominal obesity, Gait ataxia, Delayed puberty OMIM:300354
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hashimoto th... ORPHA:85138
Wilson Disease
Failure to thrive, Weight loss, Difficulty walking, Increased body weight ORPHA:905
Rhabdoid Tumor
Weight loss ORPHA:69077
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Inguina... OMIM:614294
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Dysphagia, Thyroid carcinoma, Chondrocalcinosis, ... ORPHA:143
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Paraganglioma ORPHA:94080
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Renpenning Syndrome
Cachexia, Diabetes mellitus ORPHA:3242
Cap Polyposis
Weight loss ORPHA:160148
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Cellulitis ORPHA:47
Rett Syndrome
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Gait apraxia OMIM:312750
Vipoma
Adrenocortical adenoma, Weight loss, Increased circulating cortisol level, Increased circulating ... ORPHA:97282
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100080
Immunodeficiency 27A
Weight loss OMIM:209950
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Poems Syndrome
Weight loss, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficiency, H... ORPHA:2905
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Hypogonadism, Hyperactivity, Broad-based gait, Camptodactyly of finger, Obesity, Inguin... ORPHA:85293
Nodular Non-Suppurative Panniculitis
Weight loss, Panniculitis ORPHA:33577
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia, Flexion contracture ORPHA:77297
Familial Colorectal Cancer Type X
Gait disturbance, Weight loss, Neoplasm of the thyroid gland, Pituitary adenoma, Flexion contract... ORPHA:440437
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Takayasu Arteritis
Weight loss ORPHA:3287
Wolman Disease
Cachexia, Adrenal insufficiency, Adrenal calcification ORPHA:75233
Ppoma
Adrenocortical adenoma, Weight loss, Increased circulating cortisol level, Increased circulating ... ORPHA:97278
Beta-Ketothiolase Deficiency
Ataxia, Weight loss, Oral aversion ORPHA:134
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:603041
Lynch Syndrome
Gait disturbance, Weight loss, Neoplasm of the thyroid gland, Pituitary adenoma, Flexion contract... ORPHA:144
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Decreased serum insulin-like growth factor 1, Congenital finger flexion contrac... ORPHA:363528
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dysphagia, Hernia OMIM:252930
Somatostatinoma
Adrenocortical adenoma, Weight loss, Increased circulating cortisol level, Medullary thyroid carc... ORPHA:97283
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Kaposi Sarcoma
Weight loss ORPHA:33276
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Weight loss, Obesity ORPHA:251071
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Citrullinemia Type Ii
Decreased body mass index, Abnormal eating behavior, Hyperactivity, Delayed menarche, Lethargy ORPHA:247585
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Weight loss ORPHA:221098
Polymyositis
Gait disturbance, Weight loss, Chondrocalcinosis ORPHA:732
X-Linked Adrenoleukodystrophy
Gait disturbance, Adrenal insufficiency, Hyperactivity, Abnormality of adrenal physiology, Attent... ORPHA:43
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Chronic Beryllium Disease
Weight loss ORPHA:133
Polyarteritis Nodosa
Weight loss ORPHA:767
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100082
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Neoplasm of the thymus, Weight loss, Increased circulat... ORPHA:97261
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss, Ataxia, Enamel hypoplasia, Thyroiditis, Type I diabetes mellitus,... OMIM:212750
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Hyperactivity, Precocious puberty, Hernia ORPHA:3306
Leishmaniasis
Weight loss ORPHA:507
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Hyperactivity, Attention deficit hyperactivity disorder, Decreased response to... ORPHA:485405
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Obesity OMIM:600430
Nephroblastoma
Weight loss ORPHA:654
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Dysphagia, Weight loss ORPHA:183
Whipple Disease
Ataxia, Cachexia, Polydipsia, Hypothyroidism ORPHA:3452
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Hip contracture, Knee flexion contracture, Severe failure to thrive, Elbow flexion cont... ORPHA:371364
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Angelman Syndrome
Dysphagia, Precocious puberty in females, Polyphagia, Hyperactivity, Inability to walk, Ataxia, B... ORPHA:72
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Contractures of the joints of the lower limbs, Weight loss, Arthrogryposis mul... ORPHA:99885
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Dysphagia, Flexion contracture OMIM:252940
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Yao Syndrome
Weight loss OMIM:617321
Tetrasomy 12P
Cachexia ORPHA:884
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Hypoinsulinemia ORPHA:2126
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Atypical Werner Syndrome
Chondrocalcinosis, Type II diabetes mellitus, Abnormality of circulating leptin level, Failure to... ORPHA:79474
Felty Syndrome
Weight loss, Cellulitis ORPHA:47612
Rheumatoid Arthritis
Weight loss OMIM:180300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Increased serum test... ORPHA:90794
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Shuffling gait, Hyperactivity, Flexion contracture, Decreased body weight OMIM:300534
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Glucagonoma
Adrenocortical adenoma, Weight loss, Increased circulating cortisol level, Increased circulating ... ORPHA:97280
Neuroendocrine Tumor Of Stomach
Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Paraganglioma, Carcin... ORPHA:100075
Aicardi-Goutieres Syndrome 9
Failure to thrive, Dystonia, Weight loss, Hypothyroidism OMIM:619487
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Neuroendocrine neoplasm, Weight loss, Carcinoid tumor ORPHA:100085
Erdheim-Chester Disease
Diabetes insipidus, Polydipsia, Hypogonadotropic hypogonadism, Weight loss, Ataxia ORPHA:35687
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Obesity OMIM:615873
Lymphoid Interstitial Pneumonia
Abnormality of connective tissue, Weight loss, Failure to thrive ORPHA:79128
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Paraganglioma, Paragangliom... ORPHA:276621
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Tropical Pancreatitis
Weight loss, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes ORPHA:103918
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Failure to thrive, Bulimia, Hyperactivity, Ataxia OMIM:300912
Loeffler Endocarditis
Weight loss ORPHA:75566
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Ménétrier Disease
Weight loss ORPHA:2494
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Igg4-Related Aortitis
Weight loss ORPHA:449400
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Increased serum testosterone level, Incr... ORPHA:8
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Paraganglioma, Elevated cal... ORPHA:29072
Klatskin Tumor
Weight loss ORPHA:99978
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Oculopharyngodistal Myopathy 1
Ataxia, Dysphagia, Weight loss, Difficulty walking OMIM:164310
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss, Dysphagia ORPHA:1018
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Premature adrenarche, Obesity, Precocious puberty ORPHA:813
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Dysphagia, Hip contracture, Failure to thrive, Weight loss, Knee flexi... ORPHA:2020
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Weight loss, Precocious puberty ORPHA:370348
Angelman Syndrome
Hyperactivity, Obesity, Progressive gait ataxia, Broad-based gait OMIM:105830
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Giant Cell Arteritis
Ataxia, Weight loss, Diabetes insipidus ORPHA:397
Hyperlysinemia
Dysphagia, Dysmetria, Failure to thrive, Hyperactivity, Tip-toe gait ORPHA:2203
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Obesity, Precocious puberty ORPHA:163681
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Al Amyloidosis
Weight loss, Dysphagia ORPHA:85443
Bone Marrow Failure Syndrome 3
Failure to thrive, Hernia, Amelogenesis imperfecta, Hyperactivity, Enamel hypoplasia OMIM:617052
Thymoma
Weight loss, Neoplasm of the thyroid gland ORPHA:99867
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Pneumocystosis
Weight loss ORPHA:723
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Attention deficit hyperactivit... ORPHA:449291
Refractory Celiac Disease
Weight loss ORPHA:398063
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss, Thyroiditis ORPHA:139402
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Weight loss, Lethargy ORPHA:20
Toxic Epidermal Necrolysis
Weight loss, Dysphagia, Polydipsia ORPHA:537
Budd-Chiari Syndrome
Weight loss ORPHA:131
Juvenile Dermatomyositis
Weight loss, Dysphagia ORPHA:93672
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... ORPHA:99889
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Primary Myelofibrosis
Cachexia ORPHA:824
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Hiatus hernia OMIM:609727
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss ORPHA:85450
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Wiedemann-Steiner Syndrome
Failure to thrive, Hyperactivity, Dysphagia, Decreased response to growth hormone stimulation test ORPHA:319182
7Q11.23 Microduplication Syndrome
Polyphagia, Dysmetria, Congenital diaphragmatic hernia, Hyperactivity, Unsteady gait, Obesity, In... ORPHA:96121
Dyggve-Melchior-Clausen Disease
Failure to thrive, Hyperactivity, Inability to walk, Difficulty walking ORPHA:239
Familial Pancreatic Carcinoma
Weight loss, Diabetes mellitus ORPHA:1333
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Weight loss, Thyrotoxicosis with toxic multinodu... ORPHA:79102
Alveolar Echinococcosis
Ataxia, Weight loss, Abnormality of adrenal morphology ORPHA:284
Ileal Neuroendocrine Tumor
Increased serum serotonin, Weight loss, Small intestine carcinoid ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Weight loss, Small intestine carcinoid ORPHA:100077
Stevens-Johnson Syndrome
Weight loss, Dysphagia ORPHA:36426
Mucolipidosis Type Ii
Hip contracture, Weight loss, Inguinal hernia, Knee flexion contracture, Inability to walk, Umbil... ORPHA:576
Hutchinson-Gilford Progeria Syndrome
Weight loss, Absence of subcutaneous fat, Shuffling gait, Severe failure to thrive, Decreased ser... ORPHA:740
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Thyroid carcinoma, Neoplasm of the adrenal cortex, Lipoma, Hashimoto thyroiditis ORPHA:109
Schwartz-Jampel Syndrome
Gait disturbance, Cachexia, Shoulder flexion contracture, Flexion contracture of toe, Hip contrac... ORPHA:800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... ORPHA:280651
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Dysphagia, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Choreoacanthocytosis
Dysphagia, Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Weight loss, Falls, Brad... ORPHA:2388
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Cystic Echinococcosis
Weight loss ORPHA:400
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Flexion contracture, Enthesitis ORPHA:85408
Polycythemia Vera
Weight loss ORPHA:729
Riddle Syndrome
Gait disturbance, Weight loss, Ataxia ORPHA:420741
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia ORPHA:220295
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Lysosomal Acid Lipase Deficiency
Cachexia, Failure to thrive, Weight loss, Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Hyperthyroidism, Thy... ORPHA:37042
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Malt Lymphoma
Weight loss, Abnormality of the thyroid gland ORPHA:52417
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Large for gestational age, Hyperactivity, Attention deficit hyperactivity diso... OMIM:607721
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Multiple lipomas ORPHA:137605
Pancreatoblastoma
Weight loss ORPHA:677
Camurati-Engelmann Disease
Cachexia, Slender build, Abnormal subcutaneous fat tissue distribution, Hypogonadism, Ataxia, Wad... ORPHA:1328
Trisomy 18
Omphalocele, Cachexia, Congenital diaphragmatic hernia, Hernia, Camptodactyly of finger ORPHA:3380
Brooks-Wisniewski-Brown syndrome
Hyperactivity, Small for gestational age, Flexion contracture OMIM:300612
Reactive Arthritis
Weight loss, Enthesitis ORPHA:29207
Pyomyositis
Weight loss ORPHA:764
Familial Thrombocytosis
Weight loss ORPHA:71493
Hermansky-Pudlak Syndrome
Weight loss, Abnormal dental enamel morphology ORPHA:79430
Seckel Syndrome
Cachexia, Abnormal dental enamel morphology ORPHA:808
Cockayne Syndrome
Gait disturbance, Cachexia, Absence of pubertal development, Reduced subcutaneous adipose tissue,... ORPHA:191
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland ORPHA:1969
Caroli Disease
Weight loss ORPHA:53035
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Small for gestational age, Failure to thrive, Hyperactivity, Anterior pituitary... ORPHA:464306
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss ORPHA:49041
Microsporidiosis
Adrenocortical abnormality, Cachexia, Weight loss, Thyroiditis, Abnormality of the parathyroid gland ORPHA:2552
Early Infantile Epileptic Encephalopathy
Dystonia, Failure to thrive, Hyperactivity, Episodic ataxia, Precocious puberty, Umbilical hernia ORPHA:1934
Distal Monosomy 12Q
Failure to thrive in infancy, Maturity-onset diabetes of the young, Pituitary adenoma, Hyperactiv... ORPHA:96149
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Hyperactivity OMIM:256800
Q Fever
Weight loss ORPHA:781
African Trypanosomiasis
Abnormal prolactin level, Gait disturbance, Abnormality of renin-angiotensin system, Weight loss,... ORPHA:3385
Coffin-Siris Syndrome
Hyperactivity, Papillary thyroid carcinoma, Oral aversion, Hernia ORPHA:1465
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Nocardiosis
Abnormality of the adrenal glands, Weight loss, Cellulitis, Thyroiditis ORPHA:31204
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Castleman Disease
Weight loss ORPHA:160
Primary Sclerosing Cholangitis
Weight loss, Thyroiditis, Type I diabetes mellitus ORPHA:171
Fanconi Anemia
Hypogonadism, Weight loss, Abnormality of the hypothalamus-pituitary axis, Umbilical hernia ORPHA:84
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Cachexia ORPHA:647
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Hyperactivity, Dysphagia ORPHA:447997
Marfan Syndrome
Attention deficit hyperactivity disorder, Slender build, Inguinal hernia, Cachexia ORPHA:558
Rat-Bite Fever
Weight loss ORPHA:31205
Dermatomyositis
Weight loss, Cellulitis, Chondrocalcinosis ORPHA:221
Behçet Disease
Gait disturbance, Weight loss, Ataxia ORPHA:117
Granulomatosis With Polyangiitis
Weight loss, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus ORPHA:900
Hepatocellular Carcinoma
Weight loss, Type II diabetes mellitus ORPHA:88673
Multiple Myeloma
Weight loss ORPHA:29073
Juvenile Polyposis Of Infancy
Cachexia, Subcutaneous lipoma ORPHA:79076
Chronic Graft Versus Host Disease
Weight loss, Dysphagia, Flexion contracture, Fasciitis ORPHA:99921
Brucellosis
Failure to thrive, Weight loss, Small for gestational age ORPHA:1304
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Shagreen patch, Pheochromocytoma, Pituitary adenoma, Hyperactivity, C... ORPHA:805
Igg4-Related Kidney Disease
Weight loss, Thyroiditis, Abnormality of the anterior pituitary ORPHA:449395
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Cachexia, Broad-based gait, Delayed puberty ORPHA:2072
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss, Thyroiditis, Nodular goiter ORPHA:79078
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Hereditary Sensory And Autonomic Neuropathy Type 4
Dysphagia, Corneal scarring, Fasciitis, Hyperactivity, Atypical scarring of skin, Difficulty walking ORPHA:642
Histidinemia
Hyperactivity ORPHA:2157
Postinfectious Vasculitis
Weight loss ORPHA:48435
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Sarcoidosis
Scarring, Diabetes insipidus, Weight loss, Abnormality of the adrenal glands, Hyperthyroidism, Hy... ORPHA:797
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Proteus Syndrome
Cachexia, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Abnormal subcutaneous f... ORPHA:744
Norrie Disease
Cachexia, Failure to thrive, Diabetes mellitus, Attention deficit hyperactivity disorder, Delayed... ORPHA:649
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Stickler Syndrome
Cachexia, Slender build, Abnormal dental enamel morphology ORPHA:828
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Chorioretinal scar ORPHA:91500
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Goodpasture Syndrome
Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Dmbx1

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 Dmbx1.

No publications found that use IMPC mice or data for Dmbx1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dmbx1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dmbx1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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