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Gene: Ccdc88a MGI:1925177

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

coiled coil domain containing 88A

Synonyms:

HkRP1, D130005J21Rik, GIV, Girdin, C330012F17Rik, C130096N06Rik, A430106J12Rik

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 Ccdc88a 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 Ccdc88a (1 diseases)
Human diseases predicted to be associated with Ccdc88a (437 diseases)

The table below shows human diseases associated to Ccdc88a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Peho-Like Syndrome		Pachygyria, Lissencephaly, Polymicrogyria	OMIM:617507

The table below shows human diseases predicted to be associated to Ccdc88a by phenotypic similarity.

Disease	Matching phenotypes	Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Failure to thrive, Periventricular heterotopia	OMIM:608097
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Pulmonary Blastoma	Weight loss	ORPHA:64741
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray ...	OMIM:604317
Tuberculosis	Weight loss	ORPHA:3389
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Periventricular heterotopia, Partial agenesis of the corpus c...	OMIM:616171
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Symmetrical Thalamic Calcifications	Failure to thrive, Abnormality of neuronal migration	ORPHA:1314
3-Hydroxyisobutyric Aciduria	Failure to thrive, Abnormality of neuronal migration	OMIM:236795
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty...	OMIM:615191
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Idiopathic Achalasia	Weight loss	ORPHA:930
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M...	OMIM:616212
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormal retinal morphology, Abnormality of neuronal migration, Microlis...	ORPHA:89844
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Walker-Warburg Syndrome	Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Abnormal cortical gyration, Hydro...	ORPHA:899
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Hemimegalencephaly	Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Chronic Hiccup	Weight loss	ORPHA:396
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Gray matter ...	OMIM:615219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Subcortical heterotopia, Remnants of the hyaloid vascular syst...	OMIM:614643
Isaacs Syndrome	Weight loss	ORPHA:84142
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum	OMIM:164180
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mulibrey Nanism	Cachexia	ORPHA:2576
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Pyruvate Dehydrogenase E1-Beta Deficiency	Decreased body weight, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy...	ORPHA:370959
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, Abnormality of neuronal migration	ORPHA:1895
Desmosterolosis	Failure to thrive, Abnormal cortical gyration, Hydrocephalus, Patent ductus arteriosus, Abnormali...	ORPHA:35107
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Retinal neovascularization	OMIM:619074
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Colpocephaly, Fail...	OMIM:619833
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Moynahan Syndrome	Cachexia	ORPHA:2574
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Huntington Disease-Like 2	Weight loss	OMIM:606438
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Gray matter heterotopia, Agenesis of corpus c...	ORPHA:1493
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:93274
Focal Myositis	Weight loss	ORPHA:48918
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Abnormality of neuronal migration, Truncal ...	OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Periventricular Nodular Heterotopia 7	Optic disc pallor, Failure to thrive, Gray matter heterotopia, Periventricular nodular heterotopi...	OMIM:617201
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Follicular Lymphoma	Weight loss	ORPHA:545
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Retinal coloboma	OMIM:619775
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Aicardi-Goutieres Syndrome 9	Optic atrophy, Chorioretinal atrophy, Weight loss, Lateral ventricle dilatation, Failure to thrive	OMIM:619487
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:157
Perry Syndrome	Weight loss	ORPHA:178509
Peho-Like Syndrome	Pachygyria, Lissencephaly, Polymicrogyria	OMIM:617507
Pleural Mesothelioma	Weight loss	ORPHA:50251
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Poretti-Boltshauser Syndrome	Retinal thinning, Gray matter heterotopia, Retinal atrophy, Retinal dystrophy	OMIM:615960
Riboflavin Transporter Deficiency	Optic disc pallor, Abnormality of macular pigmentation, Cachexia	ORPHA:97229
Pfapa Syndrome	Weight loss	ORPHA:42642
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Failure to thrive, Weight loss	ORPHA:1842
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
6Q Terminal Deletion Syndrome	Failure to thrive, Periventricular heterotopia, Abnormality of neuronal migration, Obesity, Gray ...	ORPHA:75857
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss	ORPHA:3208
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Weight loss	ORPHA:216866
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:261236
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Thanatophoric Dysplasia	Patent ductus arteriosus, Gray matter heterotopia, Hydrocephalus	ORPHA:2655
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Obesity	OMIM:619312
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration	ORPHA:44
Liposarcoma	Weight loss	ORPHA:69078
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Mcdonough Syndrome	Cachexia	ORPHA:2471
Cap Polyposis	Weight loss	ORPHA:160148
Takayasu Arteritis	Retinopathy, Weight loss	ORPHA:3287
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Meningocele, Abnormality of neuronal migration, Chorioretina...	ORPHA:2481
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:228308
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Bullous Pemphigoid	Weight loss	ORPHA:703
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Non-Functioning Paraganglioma	Hypertensive retinopathy, Weight loss	ORPHA:94080
Joubert Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Partia...	OMIM:619895
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Simplified gyral pattern,...	ORPHA:468631
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Kaposi Sarcoma	Abnormal retinal morphology, Weight loss	ORPHA:33276
Osteosarcoma	Weight loss	ORPHA:668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Optic nerve dysplasia, Anenc...	OMIM:615287
Rhabdoid Tumor	Weight loss	ORPHA:69077
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Joubert Syndrome With Oculorenal Defect	Encephalocele, Retinal dystrophy, Hydrocephalus, Abnormality of neuronal migration, Chorioretinal...	ORPHA:2318
Gm1 Gangliosidosis	Abnormal retinal vascular morphology, Patent ductus arteriosus, Optic atrophy, Retinopathy of pre...	ORPHA:354
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Aicardi Syndrome	Retinal detachment, Spina bifida, Chorioretinal lacunae, Partial agenesis of the corpus callosum,...	OMIM:304050
Thymic Carcinoma	Weight loss	ORPHA:99868
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Periventricular heterotopia, Agenesis of corpus callosum, Retinal pigment ...	OMIM:618733
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Christianson Syndrome	Cachexia	ORPHA:85278
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Bohring-Opitz Syndrome	Gray matter heterotopia, Failure to thrive, Agenesis of corpus callosum, Abnormal optic nerve mor...	OMIM:605039
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology, Obesity	ORPHA:163681
Flynn-Aird Syndrome	Rod-cone dystrophy, Cachexia	ORPHA:2047
Immunodeficiency 27A	Weight loss	OMIM:209950
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Pemphigus Vulgaris	Weight loss	ORPHA:704
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Deafness-Lymphedema-Leukemia Syndrome	Abnormal optic nerve morphology, Weight loss	ORPHA:3226
Renpenning Syndrome	Cachexia	ORPHA:3242
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration	OMIM:608836
Chronic Beryllium Disease	Weight loss	ORPHA:133
3C Syndrome	Hydrocephalus, Optic atrophy, Abnormality of neuronal migration, Chorioretinal coloboma	ORPHA:7
Acromelic Frontonasal Dysostosis	Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Gray matter heter...	OMIM:603671
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr...	ORPHA:2671
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum	ORPHA:314679
Nephroblastoma	Weight loss	ORPHA:654
Leishmaniasis	Weight loss	ORPHA:507
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Polyarteritis Nodosa	Weight loss	ORPHA:767
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Vici Syndrome	Macular atrophy, Ocular albinism, Gray matter heterotopia, Macular hypoplasia, Failure to thrive,...	OMIM:242840
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration	ORPHA:2518
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Weight loss	ORPHA:2902
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Hydrocephalus, Lissencephaly	OMIM:617822
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Holocarboxylase Synthetase Deficiency	Weight loss	ORPHA:79242
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Pelizaeus-Merzbacher Disease	Optic atrophy, Failure to thrive in infancy, Cachexia	ORPHA:702
Tetrasomy 12P	Cachexia	ORPHA:884
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Eosinophilic Gastroenteritis	Eosinophilia, Weight loss	ORPHA:2070
Yao Syndrome	Weight loss	OMIM:617321
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Polymicrogy...	OMIM:618820
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Igg4-Related Aortitis	Hypereosinophilia, Weight loss	ORPHA:449400
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Hydrocephalus, Optic atrophy, Cachexia	ORPHA:220295
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Rheumatoid Arthritis	Weight loss	OMIM:180300
Perry Syndrome	Weight loss	OMIM:168605
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Oromandibular Dystonia	Weight loss	ORPHA:93958
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Optic disc coloboma, Abnormality of neuronal migration, C...	ORPHA:1454
Alg11-Cdg	Gray matter heterotopia, Failure to thrive	ORPHA:280071
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Retinitis, Periventricular heterotopia, Partial agenesis of the corpus c...	OMIM:615948
Fatal Familial Insomnia	Weight loss	OMIM:600072
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Cachexia	ORPHA:300605
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Obesity, Weight loss	ORPHA:251071
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Failure to thrive, Small for gestational age, Patent ductus arteriosus, G...	OMIM:620024
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Wolman Disease	Cachexia	ORPHA:75233
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul...	ORPHA:247691
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Hydrocephalus, Optic atrophy, Abnormality of neurona...	ORPHA:2162
Ménétrier Disease	Weight loss	ORPHA:2494
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Failure to thrive, Patent ductus arteriosus, Gray matter heterotopia, Pigmenta...	OMIM:214100
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Infantile Krabbe Disease	Cherry red spot of the macula, Failure to thrive, Optic atrophy, Cachexia	ORPHA:206436
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Weight loss	ORPHA:276621
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Aredyld Syndrome	Cachexia	ORPHA:1133
Whipple Disease	Hydrocephalus, Cachexia	ORPHA:3452
Klatskin Tumor	Weight loss	ORPHA:99978
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Miller-Dieker Lissencephaly Syndrome	Pachygyria, Gray matter heterotopia, Lissencephaly, Failure to thrive, Agyria	OMIM:247200
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Abnormal cortical gyration, Partial agenesis of the corpus callosum, Hydroceph...	OMIM:210710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Small for gestational age, Patent ductus arteriosus, Abnor...	ORPHA:464311
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Felty Syndrome	Weight loss	ORPHA:47612
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Agenesis of...	OMIM:311200
Pneumocystosis	Weight loss	ORPHA:723
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Polymyositis	Weight loss	ORPHA:732
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration	ORPHA:192
Short Syndrome	Weight loss	ORPHA:3163
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Trisomy 18	Abnormality of retinal pigmentation, Cachexia, Spina bifida, Anencephaly, Holoprosencephaly	ORPHA:3380
Refractory Celiac Disease	Weight loss	ORPHA:398063
Giant Cell Arteritis	Optic atrophy, Weight loss	ORPHA:397
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Weight loss	ORPHA:139402
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Xfe Progeroid Syndrome	Failure to thrive, Optic atrophy, Cachexia, Attenuation of retinal blood vessels	OMIM:610965
Celiac Disease, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:212750
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Hypertensive retinopathy, Weight loss	ORPHA:29072
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Koolen-De Vries Syndrome	Gray matter heterotopia, Patent ductus arteriosus, Failure to thrive, Small for gestational age	OMIM:610443
Cystic Echinococcosis	Eosinophilia, Weight loss	ORPHA:400
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Late-Onset Isolated Acth Deficiency	Failure to thrive, Eosinophilia, Weight loss	ORPHA:199299
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Poems Syndrome	Papilledema, Weight loss	ORPHA:2905
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Primary Myelofibrosis	Cachexia	ORPHA:824
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Malignant Atrophic Papulosis	Abnormal optic nerve morphology, Weight loss	ORPHA:679
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Beta-Ketothiolase Deficiency	Weight loss	ORPHA:134
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Rett Syndrome	Cachexia	OMIM:312750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Weight loss	OMIM:607459
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Peripheral Primitive Neuroectodermal Tumor	Weight loss	ORPHA:370348
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Retinopathy	OMIM:617563
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Orofaciodigital Syndrome Type 6	Failure to thrive, Abnormality of neuronal migration	ORPHA:2754
Systemic Mastocytosis With Associated Hematologic Neoplasm	Eosinophilia, Weight loss	ORPHA:98849
Thymoma	Weight loss	ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Granulomatosis With Polyangiitis	Retinal hemorrhage, Weight loss	OMIM:608710
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum, Abnormal optic nerv...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum, Abnormal optic nerv...	ORPHA:352665
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss	ORPHA:20
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Agenesis ...	OMIM:236680
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Al Amyloidosis	Weight loss	ORPHA:85443
Hermansky-Pudlak Syndrome	Weight loss, Abnormal optic nerve morphology, Ocular albinism	ORPHA:79430
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Polycythemia Vera	Weight loss	ORPHA:729
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Lynch Syndrome	Weight loss	ORPHA:144
Pancreatoblastoma	Weight loss	ORPHA:677
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Pagod Syndrome	Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida	ORPHA:991
Fanconi Anemia	Patent ductus arteriosus, Hydrocephalus, Spina bifida, Weight loss	ORPHA:84
Alveolar Echinococcosis	Eosinophilia, Weight loss	ORPHA:284
Choreoacanthocytosis	Lateral ventricle dilatation, Weight loss	ORPHA:2388
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Retinopathy, Weight loss	ORPHA:99885
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Riddle Syndrome	Conjunctival telangiectasia, Weight loss	ORPHA:420741
Pyomyositis	Weight loss	ORPHA:764
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal optic nerve morphology, Cachexia	ORPHA:109
Familial Thrombocytosis	Weight loss	ORPHA:71493
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Failure to thrive	ORPHA:453499
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Tropical Pancreatitis	Weight loss	ORPHA:103918
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Acute Adrenal Insufficiency	Failure to thrive, Weight loss	ORPHA:95409
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Cachexia	ORPHA:647
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cache...	ORPHA:191
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Arima Syndrome	Retinal dystrophy, Optic atrophy, Gray matter heterotopia, Chorioretinal coloboma, Occipital meni...	OMIM:243910
Q Fever	Weight loss	ORPHA:781
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Cystinosis, Nephropathic	Failure to thrive in infancy, Retinal pigment epithelial mottling, Weight loss, Pigmentary retino...	OMIM:219800
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Caroli Disease	Weight loss	ORPHA:53035
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia	ORPHA:1969
Fontaine Progeroid Syndrome	Small for gestational age, Periventricular heterotopia, Patent ductus arteriosus, Hydrocephalus, ...	OMIM:612289
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Castleman Disease	Weight loss	ORPHA:160
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Marfan Syndrome	Retinal detachment, Meningocele, Slender build, Cachexia	ORPHA:558
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Mucolipidosis Type Ii	Weight loss	ORPHA:576
Behçet Disease	Retinopathy, Retrobulbar optic neuritis, Optic neuritis, Weight loss	ORPHA:117
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Weight loss	ORPHA:171
Granulomatosis With Polyangiitis	Retinopathy, Weight loss	ORPHA:900
Brucellosis	Chorioretinitis, Failure to thrive, Small for gestational age, Weight loss	ORPHA:1304
Malt Lymphoma	Weight loss	ORPHA:52417
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight	ORPHA:800
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Seckel Syndrome	Cachexia	ORPHA:808
Postinfectious Vasculitis	Retinal vasculitis, Weight loss	ORPHA:48435
Multiple Myeloma	Weight loss	ORPHA:29073
Immunodeficiency 31C	Weight loss	OMIM:614162
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Hydrocephalus, Cachexia	ORPHA:2072
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
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Rat-Bite Fever	Weight loss	ORPHA:31205
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Cachexia	ORPHA:79076
Reactive Arthritis	Weight loss	ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Abnormal optic nerve morphology, Weight loss	ORPHA:79078
Dermatomyositis	Abnormal eosinophil morphology, Weight loss	ORPHA:221
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Sarcoidosis, Susceptibility To, 1	Chorioretinitis, Optic neuropathy, Weight loss	OMIM:181000
Ppoma	Weight loss	ORPHA:97278
Nocardiosis	Chorioretinitis, Weight loss	ORPHA:31204
Somatostatinoma	Weight loss	ORPHA:97283
Parathyroid Carcinoma	Weight loss	ORPHA:143
Camurati-Engelmann Disease	Slender build, Optic nerve compression, Optic atrophy, Cachexia	ORPHA:1328
Grfoma	Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
African Trypanosomiasis	Myelopathy, Papilledema, Optic neuritis, Weight loss	ORPHA:3385
Vipoma	Weight loss	ORPHA:97282
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Glucagonoma	Weight loss	ORPHA:97280
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, C...	ORPHA:649
Proteus Syndrome	Abnormality of retinal pigmentation, Cachexia, Retinal hamartoma, Retinal nonattachment, Gray mat...	ORPHA:744
Stickler Syndrome	Retinal detachment, Slender build, Abnormal vitreous humor morphology, Cachexia	ORPHA:828
Igg4-Related Kidney Disease	Eosinophilia, Weight loss	ORPHA:449395
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Kikuchi-Fujimoto Disease	Weight loss	ORPHA:50918
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased eosinophil count	ORPHA:99889
Sarcoidosis	Eosinophilia, Weight loss	ORPHA:797
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia	ORPHA:75565
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 Ccdc88a

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 Ccdc88a.

No publications found that use IMPC mice or data for Ccdc88a.

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
Ccdc88a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ccdc88a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ccdc88a^{tm33776(L1L2_6XOspnEnh_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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