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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, A430106J12Rik, C130096N06Rik

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 (445 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	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Chudley-Mccullough Syndrome	Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heterotopia, Partial agene...	OMIM:604213
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia, Failure to thrive	OMIM:608097
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy...	OMIM:611603
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Band Heterotopia	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Gray ma...	OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus	OMIM:618709
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Pulmonary Blastoma	Weight loss	ORPHA:64741
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter het...	OMIM:604317
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Periventricular heterotopia, Retinopathy, Macular atrophy, Optic disc pallor, Part...	OMIM:616171
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Failure to thrive	ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte...	ORPHA:300573
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration, Failure to thrive	OMIM:236795
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Lissencephaly 5	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic...	OMIM:615191
Subependymal Nodular Heterotopia	Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men...	ORPHA:101030
Idiopathic Achalasia	Weight loss	ORPHA:930
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Lissencephaly 6 With Microcephaly	Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ...	OMIM:616212
Lissencephaly Syndrome, Norman-Roberts Type	Agenesis of corpus callosum, Abnormality of neuronal migration, Microlissencephaly, Abnormal reti...	ORPHA:89844
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Retinal dystrophy, Agenesis of corpus callosum	OMIM:617622
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Chorioretinal coloboma, Agenesis of corpus callosum, Macular hypoplasia, Colpoceph...	OMIM:615219
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Hemimegalencephaly	Optic atrophy, Polymicrogyria, Abnormal neuron morphology, Pachygyria, Gray matter heterotopia	ORPHA:99802
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Chronic Hiccup	Weight loss	ORPHA:396
Walker-Warburg Syndrome	Lissencephaly, Optic atrophy, Abnormal cortical gyration, Abnormal optic nerve morphology, Polymi...	ORPHA:899
Isaacs Syndrome	Weight loss	ORPHA:84142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Retinal dysplasia, Polymicrogyria, Type II lissencephaly, Encephalocele,...	OMIM:614643
Alexander Disease Type I	Cachexia, Hydrocephalus, Failure to thrive	ORPHA:363717
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum	OMIM:164180
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mulibrey Nanism	Cachexia	ORPHA:2576
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Eales Disease	Macular edema, Myelopathy, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epi...	ORPHA:40923
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agenesis of corpus...	ORPHA:370959
Pyruvate Dehydrogenase E1-Beta Deficiency	Decreased body weight, Periventricular heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:255138
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Retinal neovascularization	OMIM:619074
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus, Failure to thrive	ORPHA:1895
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Desmosterolosis	Abnormal cortical gyration, Failure to thrive, Polymicrogyria, Agenesis of corpus callosum, Abnor...	ORPHA:35107
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Failure to thrive, Periventricular heterotopia, Colpocephaly, Retinal detachment, ...	OMIM:619833
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Moynahan Syndrome	Cachexia	ORPHA:2574
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Patent ductus arteriosus, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Huntington Disease-Like 2	Weight loss	OMIM:606438
Vici Syndrome	Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Agenesis of corp...	ORPHA:1493
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Focal Myositis	Weight loss	ORPHA:48918
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration, Small for gestational age, Truncal obesity, Increased body mas...	OMIM:300957
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Central Diabetes Insipidus	Weight loss, Failure to thrive	ORPHA:178029
Periventricular Nodular Heterotopia 7	Failure to thrive, Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia, ...	OMIM:617201
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Follicular Lymphoma	Weight loss	ORPHA:545
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Pleural Mesothelioma	Weight loss	ORPHA:50251
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Aicardi-Goutieres Syndrome 9	Optic atrophy, Lateral ventricle dilatation, Failure to thrive, Chorioretinal atrophy, Weight loss	OMIM:619487
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Retinal coloboma	OMIM:619775
Perry Syndrome	Weight loss	ORPHA:178509
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa...	ORPHA:157
Peho-Like Syndrome	Pachygyria, Lissencephaly, Polymicrogyria	OMIM:617507
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia	ORPHA:370980
Pfapa Syndrome	Weight loss	ORPHA:42642
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Riboflavin Transporter Deficiency	Optic disc pallor, Cachexia, Abnormality of macular pigmentation	ORPHA:97229
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Retinal atrophy, Retinal dystrophy, Retinal thinning	OMIM:615960
6Q Terminal Deletion Syndrome	Failure to thrive, Polymicrogyria, Obesity, Periventricular heterotopia, Abnormality of neuronal ...	ORPHA:75857
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Weight loss, Failure to thrive	ORPHA:1842
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Weight loss, Rod-cone dystrophy	ORPHA:216866
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss	ORPHA:3208
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:261236
Thanatophoric Dysplasia	Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus	ORPHA:2655
Radio-Tartaglia Syndrome	Gray matter heterotopia, Obesity, Agenesis of corpus callosum	OMIM:619312
Liposarcoma	Weight loss	ORPHA:69078
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Cap Polyposis	Weight loss	ORPHA:160148
Mcdonough Syndrome	Cachexia	ORPHA:2471
Takayasu Arteritis	Weight loss, Retinopathy	ORPHA:3287
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa...	ORPHA:228308
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Non-Functioning Paraganglioma	Hypertensive retinopathy, Weight loss	ORPHA:94080
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Meningocele, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:2481
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Huntington Disease	Weight loss, Decreased body mass index	ORPHA:399
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Simplified gyral pattern, Attenuation of retinal blood vessels, Periventricular h...	ORPHA:468631
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Joubert Syndrome	Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Polymicrogyria	ORPHA:475
Holoprosencephaly 14	Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Aq...	OMIM:619895
Kaposi Sarcoma	Weight loss, Abnormal retinal morphology	ORPHA:33276
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Thymic Carcinoma	Weight loss	ORPHA:99868
Osteosarcoma	Weight loss	ORPHA:668
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Graves Disease	Weight loss	OMIM:275000
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Rhabdoid Tumor	Weight loss	ORPHA:69077
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Chorioretinal lacunae, Retinal pigment epithelial mottling, Agenesis...	OMIM:618733
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria	ORPHA:2065
Gm1 Gangliosidosis	Optic atrophy, Failure to thrive, Cherry red spot of the macula, Weight loss, Abnormal retinal va...	ORPHA:354
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Chronic Beryllium Disease	Weight loss	ORPHA:133
Joubert Syndrome With Oculorenal Defect	Chorioretinal coloboma, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Retinal ...	ORPHA:2318
Christianson Syndrome	Cachexia	ORPHA:85278
Aicardi Syndrome	Optic atrophy, Lateral ventricle dilatation, Optic disc coloboma, Polymicrogyria, Retinal detachm...	OMIM:304050
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Immunodeficiency 27A	Weight loss	OMIM:209950
Bohring-Opitz Syndrome	Gray matter heterotopia, Abnormal optic nerve morphology, Failure to thrive, Agenesis of corpus c...	OMIM:605039
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Occipital encephalocele, Type II lissencephaly, Optic nerve dysplasia, Agenesi...	OMIM:615287
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Obesity, Abnormal neuron morphology	ORPHA:163681
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Flynn-Aird Syndrome	Cachexia, Rod-cone dystrophy	ORPHA:2047
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Abnormal optic nerve morphology	ORPHA:3226
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Osteootohepatoenteric Syndrome	Weight loss, Hydrocephalus, Failure to thrive	OMIM:619377
Renpenning Syndrome	Cachexia	ORPHA:3242
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus callosum	OMIM:608836
3C Syndrome	Abnormality of neuronal migration, Optic atrophy, Hydrocephalus, Chorioretinal coloboma	ORPHA:7
Bullous Pemphigoid	Weight loss	ORPHA:703
X-Linked Agammaglobulinemia	Weight loss, Failure to thrive	ORPHA:47
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Leishmaniasis	Weight loss	ORPHA:507
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Nephroblastoma	Weight loss	ORPHA:654
Wilson Disease	Increased body weight, Weight loss, Failure to thrive	ORPHA:905
Majeed Syndrome	Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Polyarteritis Nodosa	Weight loss	ORPHA:767
Vici Syndrome	Failure to thrive, Hypopigmentation of the fundus, Ocular albinism, Agenesis of corpus callosum, ...	OMIM:242840
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Weight loss	ORPHA:2902
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Holocarboxylase Synthetase Deficiency	Weight loss	ORPHA:79242
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Spina bifida, Pach...	ORPHA:2671
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus	ORPHA:1860
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Hydrocephalus, Lissencephaly	OMIM:617822
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Optic atrophy, Cachexia	ORPHA:702
Eosinophilic Gastroenteritis	Eosinophilia, Weight loss	ORPHA:2070
Tetrasomy 12P	Cachexia	ORPHA:884
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte...	OMIM:618820
Congenital Tufting Enteropathy	Weight loss, Failure to thrive, Optic disc coloboma	ORPHA:92050
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Igg4-Related Aortitis	Hypereosinophilia, Weight loss	ORPHA:449400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Secondary Short Bowel Syndrome	Weight loss, Failure to thrive	ORPHA:95427
Amyotrophic Lateral Sclerosis	Cachexia, Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Yao Syndrome	Weight loss	OMIM:617321
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Cachexia, Retinopathy, Hydrocephalus	ORPHA:220295
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Optic disc coloboma, Chorioretinal coloboma, Abnormality of neuronal mig...	ORPHA:1454
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Rheumatoid Arthritis	Weight loss	OMIM:180300
Fatal Familial Insomnia	Weight loss	OMIM:600072
Perry Syndrome	Weight loss	OMIM:168605
Oromandibular Dystonia	Weight loss	ORPHA:93958
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Amyotrophic lateral sclerosis	ORPHA:300605
Alg11-Cdg	Gray matter heterotopia, Failure to thrive	ORPHA:280071
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
8P23.1 Microdeletion Syndrome	Obesity, Weight loss, Patent ductus arteriosus	ORPHA:251071
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Polymicrogyria, Periventricular h...	OMIM:615948
Wolman Disease	Cachexia	ORPHA:75233
Neuroblastoma, Susceptibility To, 1	Weight loss, Failure to thrive	OMIM:256700
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Failure to thrive, Frontal polymicrogyria, Pachygyria, Gray matter het...	OMIM:620024
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Ménétrier Disease	Weight loss	ORPHA:2494
Holoprosencephaly	Optic atrophy, Spinal dysraphism, Chorioretinal coloboma, Failure to thrive in infancy, Encephalo...	ORPHA:2162
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Infantile Krabbe Disease	Optic atrophy, Cachexia, Failure to thrive, Cherry red spot of the macula	ORPHA:206436
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Weight loss	ORPHA:276621
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero...	OMIM:601390
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w...	ORPHA:247691
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pigmentary retinopathy, Failure to thrive, Polymicrogyria, Gray matter heterotopia, Optic disc pa...	OMIM:214100
Aredyld Syndrome	Cachexia	ORPHA:1133
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Whipple Disease	Cachexia, Hydrocephalus	ORPHA:3452
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Klatskin Tumor	Weight loss	ORPHA:99978
Pneumocystosis	Weight loss	ORPHA:723
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Pachygyria, Gray matter heterotopia, Agyria, Lissencephaly	OMIM:247200
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Encephalocele, Agenesis of corpus callosum, Remnants of the ...	OMIM:603671
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Gray ma...	OMIM:311200
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Failure to thrive, Abnormality of neuronal migration, Retinal detachme...	ORPHA:464311
Pemphigus Vulgaris	Weight loss	ORPHA:704
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Lateral ventricle dilatation, Failure to thrive, Polymicrogyria, Pach...	OMIM:210710
Felty Syndrome	Weight loss	ORPHA:47612
Polymyositis	Weight loss	ORPHA:732
Short Syndrome	Weight loss	ORPHA:3163
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Refractory Celiac Disease	Weight loss	ORPHA:398063
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Weight loss	ORPHA:139402
Trisomy 18	Abnormality of retinal pigmentation, Cachexia, Spina bifida, Holoprosencephaly, Anencephaly	ORPHA:3380
Giant Cell Arteritis	Optic atrophy, Weight loss	ORPHA:397
Imerslund-Gräsbeck Syndrome	Weight loss, Failure to thrive	ORPHA:35858
Xfe Progeroid Syndrome	Optic atrophy, Cachexia, Attenuation of retinal blood vessels, Failure to thrive	OMIM:610965
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Optic atrophy, Small for gestational age, Pachygyria	OMIM:251300
Primary Myelofibrosis	Cachexia	ORPHA:824
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Hypertensive retinopathy, Weight loss	ORPHA:29072
Lymphoid Interstitial Pneumonia	Weight loss, Failure to thrive	ORPHA:79128
Koolen-De Vries Syndrome	Gray matter heterotopia, Patent ductus arteriosus, Small for gestational age, Failure to thrive	OMIM:610443
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Celiac Disease, Susceptibility To, 1	Weight loss, Failure to thrive	OMIM:212750
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity	ORPHA:813
Late-Onset Isolated Acth Deficiency	Eosinophilia, Weight loss, Failure to thrive	ORPHA:199299
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Familial Glucocorticoid Deficiency	Weight loss, Failure to thrive	ORPHA:361
Cystic Echinococcosis	Eosinophilia, Weight loss	ORPHA:400
Acrodermatitis Enteropathica	Weight loss, Failure to thrive	ORPHA:37
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia, Obesity, Patent ductus arteriosus, Retinal coloboma	OMIM:620654
Poems Syndrome	Papilledema, Weight loss	ORPHA:2905
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia, Patent ductus arteriosus	OMIM:620475
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Beta-Ketothiolase Deficiency	Weight loss	ORPHA:134
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Malignant Atrophic Papulosis	Weight loss, Abnormal optic nerve morphology	ORPHA:679
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Weight loss	OMIM:301310
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Retinal pigment epithelial mottling	OMIM:607459
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Rett Syndrome	Cachexia	OMIM:312750
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Pancreatoblastoma	Weight loss	ORPHA:677
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Retinopathy	OMIM:617563
Systemic Mastocytosis With Associated Hematologic Neoplasm	Eosinophilia, Weight loss	ORPHA:98849
Thymoma	Weight loss	ORPHA:99867
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Failure to thrive	ORPHA:2754
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity	ORPHA:85293
Adult-Onset Still Disease	Weight loss	ORPHA:829
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Granulomatosis With Polyangiitis	Retinal hemorrhage, Weight loss	OMIM:608710
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss	ORPHA:20
Peripheral Primitive Neuroectodermal Tumor	Weight loss	ORPHA:370348
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Optic nerve hypoplasia, Abnormal optic nerve morphology, Agenesis of cor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Optic nerve hypoplasia, Abnormal optic nerve morphology, Agenesis of cor...	ORPHA:352665
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Hermansky-Pudlak Syndrome	Weight loss, Abnormal optic nerve morphology, Ocular albinism	ORPHA:79430
Neuroblastoma	Weight loss	ORPHA:635
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Al Amyloidosis	Weight loss	ORPHA:85443
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Agenesis of corpus callosum, Gray matter heterotopia, Anencephaly, Se...	OMIM:236680
Insulin-Resistance Syndrome Type B	Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight	ORPHA:2298
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Fanconi Anemia	Hydrocephalus, Patent ductus arteriosus, Weight loss, Spina bifida	ORPHA:84
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly	ORPHA:3186
Isolated Permanent Neonatal Diabetes Mellitus	Retinopathy, Weight loss, Failure to thrive	ORPHA:99885
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Choreoacanthocytosis	Weight loss, Lateral ventricle dilatation	ORPHA:2388
Pagod Syndrome	Abnormality of neuronal migration, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Alveolar Echinococcosis	Eosinophilia, Weight loss	ORPHA:284
Lysosomal Acid Lipase Deficiency	Cachexia, Weight loss, Failure to thrive	ORPHA:275761
Riddle Syndrome	Conjunctival telangiectasia, Weight loss	ORPHA:420741
Pyomyositis	Weight loss	ORPHA:764
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Abnormal optic nerve morphology	ORPHA:109
Cystinosis, Nephropathic	Pigmentary retinopathy, Failure to thrive, Retinal pigment epithelial mottling, Failure to thrive...	OMIM:219800
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of retinal pi...	ORPHA:191
Familial Thrombocytosis	Weight loss	ORPHA:71493
Polycythemia Vera	Weight loss	ORPHA:729
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
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Caroli Disease	Weight loss	ORPHA:53035
Acute Adrenal Insufficiency	Weight loss, Failure to thrive	ORPHA:95409
Q Fever	Weight loss	ORPHA:781
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Cachexia	ORPHA:647
Arima Syndrome	Optic atrophy, Chorioretinal coloboma, Gray matter heterotopia, Occipital meningocele, Retinal dy...	OMIM:243910
Castleman Disease	Weight loss	ORPHA:160
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ...	ORPHA:98889
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Abnormality of retinal pigmentation	ORPHA:1969
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Fontaine Progeroid Syndrome	Small for gestational age, Failure to thrive, Periventricular heterotopia, Hydrocephalus, Gray ma...	OMIM:612289
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Mucolipidosis Type Ii	Weight loss	ORPHA:576
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Behçet Disease	Optic neuritis, Weight loss, Retrobulbar optic neuritis, Retinopathy	ORPHA:117
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Granulomatosis With Polyangiitis	Weight loss, Retinopathy	ORPHA:900
Brucellosis	Weight loss, Chorioretinitis, Small for gestational age, Failure to thrive	ORPHA:1304
Malt Lymphoma	Weight loss	ORPHA:52417
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight	ORPHA:800
Immunodeficiency 31C	Weight loss	OMIM:614162
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Aicardi-Goutieres Syndrome 7	Weight loss	OMIM:615846
Seckel Syndrome	Cachexia	ORPHA:808
Postinfectious Vasculitis	Weight loss, Retinal vasculitis	ORPHA:48435
Multiple Myeloma	Weight loss	ORPHA:29073
Rat-Bite Fever	Weight loss	ORPHA:31205
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Papilledema, Hydrocephalus	ORPHA:2072
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive	ORPHA:2020
Marfan Syndrome	Slender build, Meningocele, Cachexia, Retinal detachment	ORPHA:558
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Addison Disease	Weight loss, Failure to thrive	ORPHA:85138
Juvenile Polyposis Of Infancy	Cachexia, Patent ductus arteriosus	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
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Sarcoidosis, Susceptibility To, 1	Weight loss, Optic neuropathy, Chorioretinitis	OMIM:181000
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Weight loss, Abnormal optic nerve morphology	ORPHA:79078
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Nocardiosis	Weight loss, Chorioretinitis	ORPHA:31204
Ppoma	Weight loss	ORPHA:97278
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Igg4-Related Kidney Disease	Eosinophilia, Weight loss	ORPHA:449395
Stickler Syndrome	Slender build, Abnormal vitreous humor morphology, Cachexia, Retinal detachment, Retinal hole, La...	ORPHA:828
Somatostatinoma	Weight loss	ORPHA:97283
Vipoma	Weight loss	ORPHA:97282
Parathyroid Carcinoma	Weight loss	ORPHA:143
Camurati-Engelmann Disease	Slender build, Cachexia, Optic nerve compression, Optic atrophy	ORPHA:1328
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Grfoma	Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
African Trypanosomiasis	Optic neuritis, Papilledema, Weight loss, Myelopathy	ORPHA:3385
Lynch Syndrome	Weight loss	ORPHA:144
Systemic Lupus Erythematosus	Weight loss, Retinopathy	ORPHA:536
Glucagonoma	Weight loss	ORPHA:97280
Dermatomyositis	Abnormal eosinophil morphology, Weight loss	ORPHA:221
Norrie Disease	Optic atrophy, Failure to thrive, Abnormal vitreous humor morphology, Cachexia, Abnormal retinal ...	ORPHA:649
Proteus Syndrome	Retinal nonattachment, Chorioretinal coloboma, Abnormality of retinal pigmentation, Cachexia, Gra...	ORPHA:744
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive	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
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Sarcoidosis	Eosinophilia, Weight loss	ORPHA:797
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Goodpasture Syndrome	Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Eosinophilia, 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 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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