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Gene: Id4 MGI:99414

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

inhibitor of DNA binding 4

Synonyms:

Id4, bHLHb27, Idb4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Id4 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.

Human diseases associated with Id4 (0 diseases)
Human diseases predicted to be associated with Id4 (499 diseases)

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

The table below shows human diseases predicted to be associated to Id4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Failure to thrive, Ventriculomegaly, Colpocephaly	OMIM:616034
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Short stature	OMIM:146350
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Short stature	OMIM:193100
Pulmonary Blastoma	Weight loss	ORPHA:64741
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Short Stature, Dauber-Argente Type	Osteopenia, Postnatal growth retardation, Short stature, Reduced bone mineral density	OMIM:619489
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:618736
Martsolf Syndrome 2	Lateral ventricle dilatation, Decreased body weight	OMIM:619420
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Failure to thrive, Rickets	OMIM:602722
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Lateral ventricle dilatation, Basal ganglia gliosis	OMIM:607596
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Partial agenesis of the corpus callosum, Cerebellar gliosis, Lateral v...	ORPHA:79243
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Failure to thrive, Ventriculomegaly, Colpocephaly	OMIM:619833
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue ...	ORPHA:93160
Tuberculosis	Weight loss	ORPHA:3389
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gliosis	OMIM:221770
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue, Osteom...	ORPHA:1901
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Halperin-Birk Syndrome	Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopro...	OMIM:618651
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine grow...	OMIM:608747
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:600081
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets, Short stature	OMIM:211600
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Idiopathic Achalasia	Weight loss	ORPHA:930
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal...	OMIM:613154
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Rickets, Short stature	OMIM:611590
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke...	ORPHA:289157
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Fanconi Renotubular Syndrome 3	Growth delay, Rickets, Short stature	OMIM:615605
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:241530
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Short stature, Osteomalacia, Reduced bone mineral density, Growth delay, Hypophosphatemic rickets...	ORPHA:157215
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Hypophosphatemic Rickets, X-Linked Recessive	Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300554
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Failure to thrive in infancy	ORPHA:284417
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ...	OMIM:620366
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly	OMIM:618291
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Camptodactyly of finger, Osteomalacia, Recurrent fractures, Joi...	ORPHA:2176
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Glutamine Deficiency, Congenital	Neonatal death, Subependymal cysts, Lateral ventricle dilatation	OMIM:610015
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:264700
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Rickets, Osteomalacia	ORPHA:89937
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:277440
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation	OMIM:618606
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Dandy-Walker m...	ORPHA:3078
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Acute Myelomonocytic Leukemia	Eosinophilia, Weight loss	ORPHA:517
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Dilated third ventricle, Meningocele, Lateral ventricl...	ORPHA:397715
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic...	OMIM:307800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Juvenile Huntington Disease	Ventriculomegaly, Weight loss	ORPHA:248111
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Lateral ventricle dilatation, Gliosis	OMIM:619847
Chronic Hiccup	Weight loss	ORPHA:396
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum, Decreased body weight	OMIM:609053
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Celiac Disease, Susceptibility To, 1	Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Delayed puberty,...	OMIM:212750
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Cystinosis	Failure to thrive, Rickets, Short stature, Delayed puberty	ORPHA:213
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Dent Disease 1	Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300009
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Short stature	OMIM:134600
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Failure to thrive, Rickets	ORPHA:79303
Isaacs Syndrome	Weight loss	ORPHA:84142
Huntington Disease-Like 1	Gliosis, Ventriculomegaly, Weight loss	ORPHA:157941
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Overweight, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle	OMIM:619575
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Cach Syndrome	Lateral ventricle dilatation	ORPHA:135
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Short stature, Large for gestational age	OMIM:616026
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Obesity, Lateral ventricle dila...	OMIM:617296
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Rickets	OMIM:607765
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Osteomalacia, Postnatal growth retardation, Rickets, Failure...	OMIM:227810
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul...	ORPHA:488627
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly	OMIM:301043
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Short stature	OMIM:612089
Slc35A2-Cdg	Lateral ventricle dilatation, Failure to thrive in infancy, Dandy-Walker malformation	ORPHA:356961
Mulibrey Nanism	Cachexia	ORPHA:2576
Huntington Disease-Like 2	Weight loss	OMIM:606438
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Fanconi-Bickel Syndrome	Osteopenia, Failure to thrive, Growth delay, Rickets	ORPHA:2088
Distal Deletion 10Q	Failure to thrive, Lateral ventricle dilatation, Spina bifida occulta	ORPHA:96148
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay	ORPHA:309031
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Ri...	ORPHA:89936
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Christianson Syndrome	Ventriculomegaly, Cachexia	ORPHA:85278
Moynahan Syndrome	Cachexia	ORPHA:2574
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Short stature, Osteomalacia, Fibrous dysplasia of the bo...	ORPHA:249
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:618820
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly	ORPHA:261250
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Ventriculomegaly	OMIM:619229
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation, Failure to thrive in infancy	OMIM:611209
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Large for gest...	ORPHA:544488
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Failure to thrive, Weight loss	OMIM:619487
Pleural Mesothelioma	Weight loss	ORPHA:50251
Follicular Lymphoma	Weight loss	ORPHA:545
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Osteomalacia, Chondrocalcinosis	OMIM:600740
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation	ORPHA:565624
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth delay, Increased susce...	ORPHA:18
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Mcdonough Syndrome	Cachexia	ORPHA:2471
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Short stature, Small for gestational age, Rickets, Red...	OMIM:613658
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation, Obesity, Overweight	ORPHA:2822
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:572798
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Colpocephaly, Failure to thrive, Agenesis of corpus callosum	OMIM:614866
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Cachexia	ORPHA:220295
Aicardi Syndrome	Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil...	OMIM:304050
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly, Cachexia	ORPHA:1933
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Whipple Disease	Hydrocephalus, Cachexia	ORPHA:3452
Pfapa Syndrome	Weight loss	ORPHA:42642
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Khan-Khan-Katsanis Syndrome	Colpocephaly, Failure to thrive, Ventriculomegaly	OMIM:618460
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation, Failure to thrive	OMIM:615485
Rhabdoid Tumor	Weight loss	ORPHA:69077
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Perry Syndrome	Weight loss	ORPHA:178509
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Focal Myositis	Weight loss	ORPHA:48918
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retarda...	OMIM:309000
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,...	ORPHA:562
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio...	OMIM:210710
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Takayasu Arteritis	Weight loss	ORPHA:3287
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Renpenning Syndrome	Cachexia	ORPHA:3242
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly, Failure to thrive	OMIM:620083
Immunodeficiency 27A	Weight loss	OMIM:209950
Smith-Lemli-Opitz Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Holoprosencephaly, Failure ...	OMIM:270400
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia	OMIM:618186
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Weight loss	ORPHA:2902
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,...	ORPHA:198
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Eosinophilic Gastroenteritis	Eosinophilia, Weight loss	ORPHA:2070
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Infantile Nephropathic Cystinosis	Growth delay, Failure to thrive, Rickets	ORPHA:411629
Weaver Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:277590
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Igg4-Related Aortitis	Hypereosinophilia, Weight loss	ORPHA:449400
Thymic Carcinoma	Weight loss	ORPHA:99868
Leishmaniasis	Weight loss	ORPHA:507
Kaposi Sarcoma	Weight loss	ORPHA:33276
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Osteosarcoma	Weight loss	ORPHA:668
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Chronic Beryllium Disease	Weight loss	ORPHA:133
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Primary Fanconi Renotubular Syndrome	Osteomalacia, Weight loss, Growth delay, Increased susceptibility to fractures, Hypophosphatemic ...	ORPHA:3337
Cap Polyposis	Weight loss	ORPHA:160148
Trisomy 18	Cachexia, Anencephaly, Holoprosencephaly, Spina bifida	ORPHA:3380
Bullous Pemphigoid	Weight loss	ORPHA:703
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Helsmoortel-Van Der Aa Syndrome	Obesity, Truncal obesity, Lateral ventricle dilatation, Gliosis, Failure to thrive, Ventriculomegaly	OMIM:615873
Tetrasomy 12P	Cachexia	ORPHA:884
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Polyarteritis Nodosa	Weight loss	ORPHA:767
6Q Terminal Deletion Syndrome	Colpocephaly, Failure to thrive, Obesity	ORPHA:75857
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Obesity	ORPHA:177907
Gm1 Gangliosidosis	Failure to thrive, Weight loss	ORPHA:354
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Liposarcoma	Weight loss	ORPHA:69078
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation, Failure to thrive, Small for gestational age	OMIM:619869
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Gliosis, Large for gestational age	OMIM:300868
Holocarboxylase Synthetase Deficiency	Weight loss	ORPHA:79242
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Familial Hypocalciuric Hypercalcemia	Lipoma, Osteomalacia, Chondrocalcinosis	ORPHA:405
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Yao Syndrome	Weight loss	OMIM:617321
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Failure to thrive	OMIM:614098
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Cachexia	ORPHA:300605
Perry Syndrome	Weight loss	OMIM:168605
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Weight loss	ORPHA:139402
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Nephroblastoma	Weight loss	ORPHA:654
Wilson Disease	Osteomalacia, Osteoarthritis, Osteoporosis, Chondrocalcinosis, Joint hypermobility	OMIM:277900
Felty Syndrome	Weight loss	ORPHA:47612
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Oromandibular Dystonia	Weight loss	ORPHA:93958
Aredyld Syndrome	Cachexia	ORPHA:1133
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Oculocerebrorenal Syndrome Of Lowe	Inguinal hernia, Short stature, Abnormal dental enamel morphology, Osteomalacia, Recurrent fractu...	ORPHA:534
Polymyositis	Weight loss	ORPHA:732
Short Syndrome	Weight loss	ORPHA:3163
Cystinosis, Nephropathic	Short stature, Failure to thrive in infancy, Rickets, Weight loss, Growth delay, Delayed puberty,...	OMIM:219800
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Cystic Echinococcosis	Eosinophilia, Weight loss	ORPHA:400
Ménétrier Disease	Weight loss	ORPHA:2494
Late-Onset Isolated Acth Deficiency	Failure to thrive, Eosinophilia, Weight loss	ORPHA:199299
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Pemphigus Vulgaris	Weight loss	ORPHA:704
Rheumatoid Arthritis	Weight loss	OMIM:180300
Fatal Familial Insomnia	Weight loss	OMIM:600072
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Wolman Disease	Cachexia	ORPHA:75233
Fanconi Anemia	Hydrocephalus, Ventriculomegaly, Spina bifida, Weight loss	ORPHA:84
Refractory Celiac Disease	Weight loss	ORPHA:398063
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Failure to thrive, Obesity	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Failure to thrive, Obesity	ORPHA:353277
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Xfe Progeroid Syndrome	Ventriculomegaly, Failure to thrive, Cachexia	OMIM:610965
Hereditary Late-Onset Parkinson Disease	Gliosis, Weight loss	ORPHA:411602
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Osteoporosis, Rick...	ORPHA:2636
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Pneumocystosis	Weight loss	ORPHA:723
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Agenesis of corpus callosum, Obesity, Lateral ventricle dilatation	OMIM:607872
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Primary Myelofibrosis	Cachexia	ORPHA:824
Systemic Mastocytosis With Associated Hematologic Neoplasm	Eosinophilia, Weight loss	ORPHA:98849
Giant Cell Arteritis	Weight loss	ORPHA:397
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Beta-Ketothiolase Deficiency	Weight loss	ORPHA:134
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Peripheral Primitive Neuroectodermal Tumor	Weight loss	ORPHA:370348
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly, Cachexia	ORPHA:2072
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Thymoma	Weight loss	ORPHA:99867
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Neonatal death, Failure to thrive	OMIM:619534
Rett Syndrome	Cachexia	OMIM:312750
Poems Syndrome	Weight loss	ORPHA:2905
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss	ORPHA:20
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Al Amyloidosis	Weight loss	ORPHA:85443
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Progressi...	ORPHA:500150
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Alveolar Echinococcosis	Eosinophilia, Weight loss	ORPHA:284
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Lynch Syndrome	Weight loss	ORPHA:144
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Polycythemia Vera	Weight loss	ORPHA:729
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Klatskin Tumor	Weight loss	ORPHA:99978
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Choreoacanthocytosis	Lateral ventricle dilatation, Weight loss	ORPHA:2388
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomyelitis, Osteomalacia, Weight loss	OMIM:619381
Marfan Syndrome	Meningocele, Slender build, Cachexia	ORPHA:558
Acute Adrenal Insufficiency	Failure to thrive, Weight loss	ORPHA:95409
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Q Fever	Weight loss	ORPHA:781
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Caroli Disease	Weight loss	ORPHA:53035
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Weight loss	ORPHA:171
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
African Trypanosomiasis	Myelopathy, Ventriculomegaly, Weight loss	ORPHA:3385
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Mucolipidosis Type Ii	Weight loss	ORPHA:576
Riddle Syndrome	Weight loss	ORPHA:420741
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight	ORPHA:800
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Familial Thrombocytosis	Weight loss	ORPHA:71493
Castleman Disease	Weight loss	ORPHA:160
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Dermatomyositis	Abnormal eosinophil morphology, Weight loss	ORPHA:221
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Addison Disease	Failure to thrive, Weight loss	ORPHA:85138
Aicardi-Goutieres Syndrome 7	Weight loss	OMIM:615846
Immunodeficiency 31C	Weight loss	OMIM:614162
Generalized Arterial Calcification Of Infancy	Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer...	ORPHA:51608
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Multiple Myeloma	Weight loss	ORPHA:29073
Brucellosis	Failure to thrive, Small for gestational age, Weight loss	ORPHA:1304
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Rat-Bite Fever	Weight loss	ORPHA:31205
Seckel Syndrome	Cachexia	ORPHA:808
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Granulomatosis With Polyangiitis	Weight loss	ORPHA:900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Pyomyositis	Weight loss	ORPHA:764
Pancreatoblastoma	Weight loss	ORPHA:677
Reactive Arthritis	Weight loss	ORPHA:29207
Tropical Pancreatitis	Weight loss	ORPHA:103918
Cockayne Syndrome	Gliosis, Cachexia	ORPHA:191
Ppoma	Weight loss	ORPHA:97278
Somatostatinoma	Weight loss	ORPHA:97283
Parathyroid Carcinoma	Weight loss	ORPHA:143
Grfoma	Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Vipoma	Weight loss	ORPHA:97282
Malt Lymphoma	Weight loss	ORPHA:52417
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Postinfectious Vasculitis	Weight loss	ORPHA:48435
Glucagonoma	Weight loss	ORPHA:97280
Igg4-Related Kidney Disease	Eosinophilia, Weight loss	ORPHA:449395
Behçet Disease	Weight loss	ORPHA:117
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	ORPHA:261537
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Nocardiosis	Weight loss	ORPHA:31204
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	ORPHA:261552
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased eosinophil count	ORPHA:99889
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Sarcoidosis	Eosinophilia, Weight loss	ORPHA:797
Sarcoidosis, Susceptibility To, 1	Weight loss	OMIM:181000
Kikuchi-Fujimoto Disease	Weight loss	ORPHA:50918
Camurati-Engelmann Disease	Slender build, Cachexia	ORPHA:1328
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss	ORPHA:91500
Proteus Syndrome	Cachexia	ORPHA:744
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia	ORPHA:75565
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Goodpasture Syndrome	Weight loss	OMIM:233450

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 Id4

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 Id4.

No publications found that use IMPC mice or data for Id4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Id4^{tm413877(Ifitm2_intron_L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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