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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Peho-Like Syndrome
Progressive microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Polymicro... OMIM:617507

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Lissencephaly, Pachy... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Pachygyria, Cortical... OMIM:615412
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Pachygyria, Megalencephaly OMIM:614499
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Gray matter heterotopia, Simplified gyral pa... OMIM:604317
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly OMIM:616080
Lissencephaly 1
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria, Seconda... OMIM:607432
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Micro... OMIM:608097
Microlissencephaly
Cerebral dysmyelination, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral p... ORPHA:1083
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Abno... ORPHA:329228
Band Heterotopia
Agenesis of corpus callosum, Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus... OMIM:600348
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Partial agenesis of the corpu... OMIM:604213
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Lissencephaly, Pachyg... OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Microcephaly, Cortical dysplasia, Hydrocephalus, Abnormality... OMIM:618709
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Lissencephaly, Pachygyria OMIM:300067
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia, Cortical dysplasia, Hypoplasia of t... OMIM:617201
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Huntington Disease-Like 2
Caudate atrophy, Abnormal corpus striatum morphology, Abnormal cerebral morphology, Cerebral cort... ORPHA:98934
Periventricular Nodular Heterotopia 8
Microcephaly, Periventricular nodular heterotopia OMIM:618185
3-Hydroxyisobutyric Aciduria
Microcephaly, Failure to thrive, Abnormality of neuronal migration, Congenital intracerebral calc... OMIM:236795
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Gray matter heterotopia, Dysgyria, Hydrocephalus, Type II lissencephaly,... ORPHA:352682
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Symmetrical Thalamic Calcifications
Cerebral calcification, Microcephaly, Failure to thrive, Abnormality of neuronal migration ORPHA:1314
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Porencephalic cyst, Gray matter heter... OMIM:615191
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1980
Pulmonary Blastoma
Weight loss ORPHA:64741
Tuberculosis
Weight loss ORPHA:3389
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Weight loss, Abnormal cerebral white matter morphology, Slender build OMIM:613662
Acalvaria
Holoprosencephaly, Spina bifida, Abnormality of neuronal migration, Hydrocephalus ORPHA:945
Diencephalic Syndrome
Decreased body weight, Cachexia, Hydrocephalus ORPHA:1672
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Subependymal Nodular Heterotopia
Myelomeningocele, Focal cortical dysplasia, Occipital encephalocele, Nasofrontal encephalocele, G... ORPHA:101030
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
Brain Small Vessel Disease 2
Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Polymicrogyria OMIM:614483
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... ORPHA:2512
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Agenesis of corpus callosum, Abnormal retinal morphology, Primary microce... ORPHA:89844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Anencephaly, Retinal dysplasia, Optic nerve... OMIM:615287
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology ORPHA:370980
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Gray matter heterotopia, Simplified gyral pattern, Lis... OMIM:615219
Intellectual Developmental Disorder, Autosomal Dominant 13
Microcephaly, Pachygyria, Abnormality of neuronal migration, Hypoplasia of the corpus callosum OMIM:614563
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Poretti-Boltshauser Syndrome
Retinal thinning, Gray matter heterotopia, Retinal atrophy, Abnormal periventricular white matter... OMIM:615960
Juvenile Huntington Disease
Weight loss, Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology ORPHA:248111
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Cerebral cortical atrophy ORPHA:1164
Idiopathic Achalasia
Weight loss ORPHA:930
Walker-Warburg Syndrome
Abnormal cortical gyration, Retinal dystrophy, Agenesis of corpus callosum, Chorioretinal dysplas... ORPHA:899
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Decreased body weight, Agenesis of corpus callosum, Periventricular hetero... ORPHA:255138
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microcephaly, Partial agene... OMIM:616212
Moynahan Syndrome
Microcephaly, Cachexia ORPHA:2574
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Microcephaly, Increased body mass index, Abnormality ... OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Abnormal periventricular white matter morphology OMIM:608840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hypoplasia of the corpus callosum, Subcortical heterotopia, Retinal detachment, Optic ner... OMIM:614643
Peho-Like Syndrome
Progressive microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Polymicro... OMIM:617507
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele, Hypoplasia of the co... OMIM:164180
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chronic Hiccup
Weight loss ORPHA:396
Isaacs Syndrome
Weight loss ORPHA:84142
Classic Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Pigmentary retinopathy, Rod-cone dystrophy, Optic di... ORPHA:216866
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Riboflavin Transporter Deficiency
Abnormality of macular pigmentation, Optic disc pallor, Cerebral cortical atrophy, Cachexia ORPHA:97229
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia,... ORPHA:370959
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Desmosterolosis
Abnormal cortical gyration, Agenesis of corpus callosum, Patent ductus arteriosus, Microcephaly, ... ORPHA:35107
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Retinal neovascularization OMIM:619074
Erythrokeratodermia Variabilis
Microcephaly, Weight loss ORPHA:317
Mulibrey Nanism
Cachexia ORPHA:2576
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Huntington Disease
Cerebral atrophy, Caudate atrophy, Degeneration of the striatum, Decreased body mass index, Weigh... ORPHA:399
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Weight loss OMIM:605543
Flynn-Aird Syndrome
Cerebral calcification, Rod-cone dystrophy, Cerebral cortical atrophy, Cachexia ORPHA:2047
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Gray matter heterotopia, Spina bifida, Hydrocephal... OMIM:207950
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Periventricular nodular heterotopia, Hypopituitarism, Gray matter he... OMIM:603671
Edinburgh Malformation Syndrome
Failure to thrive, Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Hypointensity of cerebral white matter on MRI, Cachexia, Leukoencephalopathy, Weig... OMIM:603041
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microcephaly, Cerebral cortical atrophy, Abno... ORPHA:2518
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Periventricular heterotopia, Abnormal periventricular white matter m... OMIM:618476
Christianson Syndrome
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atrophy, Cachexia ORPHA:85278
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Huntington Disease-Like 1
Abnormality of the basal ganglia, Weight loss, Cerebral cortical atrophy ORPHA:157941
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Gray matter heterotopia, Thin corpus callosum OMIM:619694
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Patent ductus arteriosus, Hypoplasia of the corpus callosum OMIM:618974
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Cachexia, Weight loss, Abnormal cerebral white matter morphology ORPHA:298
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Microcephaly, Cerebral calcification, Cachexia ORPHA:1933
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Periventricular leukomalacia, Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Vici Syndrome
Abnormal macular morphology, Agenesis of corpus callosum, Abnormality of retinal pigmentation, Gr... ORPHA:1493
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Huntington Disease-Like 2
Weight loss OMIM:606438
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Microcephaly, Cerebral cortical atrophy, Cachexia, Optic atrophy ORPHA:702
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Retinal dystrop... ORPHA:2318
Alg11-Cdg
Cerebral atrophy, Cerebral white matter atrophy, Gray matter heterotopia, Microcephaly, Failure t... ORPHA:280071
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cerebral atrophy, Failure to thrive in infancy, Microcephaly, Cachexia, Hypoplasia of the corpus ... OMIM:616801
Pseudo-Torch Syndrome 2
Cerebral calcification, Patent ductus arteriosus, Gray matter heterotopia, Microcephaly, Polymicr... OMIM:617397
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Optic atrophy, Diffuse leukoencephalopathy, Basal gangl... OMIM:619487
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Neuropathy, Congenital Hypomyelinating, 3
Microcephaly, Cachexia, Hypoplasia of the corpus callosum OMIM:618186
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Abnormality of neuronal migration, Encephalocele, Hydrocephalus ORPHA:93274
Hodgkin Lymphoma
Weight loss ORPHA:98293
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Gm1 Gangliosidosis
Cherry red spot of the macula, Patent ductus arteriosus, Optic atrophy, Abnormal cerebral white m... ORPHA:354
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:157
Focal Myositis
Weight loss ORPHA:48918
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
6Q Terminal Deletion Syndrome
Colpocephaly, Periventricular heterotopia, Obesity, Gray matter heterotopia, Failure to thrive, A... ORPHA:75857
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Abnormality of neuronal... ORPHA:475
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cerebral calcification, Focal hyperintensity of cerebral white matter on MRI, Abnormal retinal va... ORPHA:247691
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Periventricular heterotopia, Lobar holoprosencepha... ORPHA:468631
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Exencephaly, Pachygyria, Polymicrogyria, A... ORPHA:2211
Mast Cell Sarcoma
Weight loss ORPHA:66661
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary adenom... ORPHA:97289
Renpenning Syndrome
Microcephaly, Cachexia ORPHA:3242
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Miller-Dieker Lissencephaly Syndrome
Agyria, Cavum septum pellucidum, Gray matter heterotopia, Microcephaly, Lissencephaly, Midline br... OMIM:247200
Follicular Lymphoma
Weight loss ORPHA:545
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:228308
Galloway-Mowat Syndrome
Microcephaly, Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Microcephaly, Lissencephaly, Spina bifida, Ma... ORPHA:2671
Vici Syndrome
Agenesis of corpus callosum, Schizencephaly, Hypopigmentation of the fundus, Gray matter heteroto... OMIM:242840
16P13.11 Microdeletion Syndrome
Microcephaly, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum ORPHA:261236
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Perry Syndrome
Weight loss ORPHA:178509
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Patent ductus arteriosus ORPHA:1842
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Pleural Mesothelioma
Weight loss ORPHA:50251
Thanatophoric Dysplasia
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus ORPHA:2655
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Pfapa Syndrome
Weight loss ORPHA:42642
Radio-Tartaglia Syndrome
Microcephaly, Obesity, Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Infantile Krabbe Disease
Cherry red spot of the macula, Hypointensity of cerebral white matter on MRI, Failure to thrive, ... ORPHA:206436
Aicardi Syndrome
Chorioretinal lacunae, Cavum septum pellucidum, Dilated third ventricle, Retinal detachment, Gray... OMIM:304050
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Abnormality of the optic nerve, Gray matter heterotopia, Microcephal... OMIM:605039
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Gray matter heterotopia, Hydrocephalus OMIM:617822
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Gerstmann-Straussler Disease
Neurofibrillary tangles, Weight loss OMIM:137440
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Microcephaly, Severe failure to thrive, Cachexia, Hypoplasia of the corpus callosum ORPHA:371364
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Retinopathy, Microcephaly, Cachexia, Hydrocephalus, Optic atrophy ORPHA:220295
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Rett Syndrome
Cerebral cortical atrophy, Cachexia, Secondary microcephaly OMIM:312750
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Patent ductus arteriosus, Posterior pituitary hypoplasia, Retinal deta... ORPHA:464311
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Pig... OMIM:214100
Liposarcoma
Weight loss ORPHA:69078
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpus callosum OMIM:618797
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Optic atrophy ORPHA:44
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Occipital encephalocele, Aplasia/Hypoplasia of the corpus callosum, Hydro... ORPHA:1454
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
8P23.1 Microdeletion Syndrome
Microcephaly, Obesity, Weight loss, Patent ductus arteriosus ORPHA:251071
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, Amyotrophic lateral sclerosis, Cachexia ORPHA:300605
Mcdonough Syndrome
Cachexia ORPHA:2471
Takayasu Arteritis
Retinopathy, Weight loss ORPHA:3287
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Weight loss ORPHA:3165
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Osteosarcoma
Weight loss ORPHA:668
Bullous Pemphigoid
Weight loss ORPHA:703
Kaposi Sarcoma
Abnormal retinal morphology, Weight loss ORPHA:33276
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Cap Polyposis
Weight loss ORPHA:160148
Malignant Atrophic Papulosis
Weight loss, Ischemic stroke, Abnormality of the optic nerve ORPHA:679
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Meningocele, Abnormality of neuronal... ORPHA:2481
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Basal ganglia cysts, Microcephaly, Intracerebral periventricular cal... OMIM:608836
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Coffin-Lowry Syndrome
Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Abnormality of retinal pigmentation, Mi... ORPHA:192
Acrodermatitis Enteropathica
Failure to thrive, Cerebral cortical atrophy, Weight loss ORPHA:37
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Rhabdoid Tumor
Weight loss ORPHA:69077
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy, Weight loss ORPHA:411602
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the corpus callosum ORPHA:261250
Thymic Carcinoma
Weight loss ORPHA:99868
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Retinal pigment epithelial mottling, Chorioretinal lacunae, Agenesis... OMIM:618733
Fryns-Smeets-Thiry Syndrome
Microcephaly, Cachexia ORPHA:2058
Non-Functioning Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:94080
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
X-Linked Creatine Transporter Deficiency
Microcephaly, Cachexia ORPHA:52503
19Q13.11 Microdeletion Syndrome
Microcephaly, Failure to thrive, Cachexia ORPHA:217346
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Holoprosencephaly
Retinopathy, Chorioretinal coloboma, Failure to thrive in infancy, Optic atrophy, Panhypopituitar... ORPHA:2162
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Weight loss ORPHA:3208
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Xfe Progeroid Syndrome
Optic atrophy, Microcephaly, Failure to thrive, Cachexia, Attenuation of retinal blood vessels OMIM:610965
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Immunodeficiency 27A
Weight loss OMIM:209950
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, H... ORPHA:314679
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Celiac Disease, Susceptibility To, 1
Cerebral calcification, Failure to thrive, Weight loss OMIM:212750
3C Syndrome
Chorioretinal coloboma, Optic atrophy, Abnormality of neuronal migration, Hydrocephalus ORPHA:7
Adrenocortical Carcinoma
Weight loss, Increased body weight, Adrenocorticotropic hormone deficiency ORPHA:1501
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Late-Onset Isolated Acth Deficiency
Eosinophilia, Adrenocorticotropic hormone deficiency, Failure to thrive, Pituitary adenoma, Weigh... ORPHA:199299
Poems Syndrome
Weight loss, Increased circulating prolactin concentration, Papilledema ORPHA:2905
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Hypothalamic hamartoma, Failure to thrive, Abnormality... ORPHA:2754
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Bronchial Neuroendocrine Tumor
Weight loss, Elevated circulating growth hormone concentration ORPHA:97287
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Abnormality of the optic nerve ORPHA:3226
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Abnormality of retinal pigmentation, Anencephaly, Micr... ORPHA:3380
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Gray matter heterotopia, P... OMIM:618820
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss, Hydrocephalus OMIM:619377
Silver-Russell Syndrome
Cachexia, Obesity, Failure to thrive in infancy, Secondary microcephaly ORPHA:813
Pemphigus Vulgaris
Weight loss ORPHA:704
Riddle Syndrome
Microcephaly, Conjunctival telangiectasia, Weight loss, Abnormal cerebral white matter morphology ORPHA:420741
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Chronic Beryllium Disease
Weight loss ORPHA:133
3-Hydroxy-3-Methylglutaric Aciduria
Microcephaly, Leukoencephalopathy, Weight loss ORPHA:20
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Koolen-De Vries Syndrome
Small for gestational age, Patent ductus arteriosus, Gray matter heterotopia, Microcephaly, Failu... OMIM:610443
Polyarteritis Nodosa
Weight loss ORPHA:767
Leishmaniasis
Weight loss ORPHA:507
Nephroblastoma
Weight loss ORPHA:654
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Familial Colorectal Cancer Type X
Weight loss, Pituitary adenoma ORPHA:440437
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
X-Linked Intellectual Disability, Cabezas Type
Microcephaly, Obesity, Cachexia ORPHA:85293
Van Maldergem Syndrome 2
Hypoplasia of the corpus callosum, Gray matter heterotopia, Periventricular nodular heterotopia, ... OMIM:615546
Lynch Syndrome
Weight loss, Pituitary adenoma ORPHA:144
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus ORPHA:1860
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Cerebral atrophy, Myelomeningocele, Agenesis ... OMIM:311200
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Weight loss ORPHA:2902
Tetrasomy 12P
Cachexia ORPHA:884
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Yao Syndrome
Weight loss OMIM:617321
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Occipital encephalocele, Periventricular heterotopia, Microcephaly, Sim... OMIM:615948
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Microcephaly, Hypoplasia of the cor... OMIM:618918
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Eosinophilic Gastroenteritis
Eosinophilia, Weight loss ORPHA:2070
Rheumatoid Arthritis
Weight loss OMIM:180300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Congenital Tufting Enteropathy
Optic disc coloboma, Failure to thrive, Weight loss ORPHA:92050
Fatal Familial Insomnia
Weight loss OMIM:600072
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Ppoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:97278
Pagod Syndrome
Optic atrophy, Microcephaly, Spina bifida, Meningocele, Abnormality of neuronal migration, Enceph... ORPHA:991
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Elevated circulating grow... ORPHA:913
Oculopharyngodistal Myopathy 1
Weight loss, Abnormal cerebral white matter morphology OMIM:164310
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Oromandibular Dystonia
Weight loss ORPHA:93958
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Seckel Syndrome
Microcephaly, Cachexia ORPHA:808
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Klatskin Tumor
Weight loss ORPHA:99978
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hydrocephalus OMIM:305450
Perry Syndrome
Weight loss OMIM:168605
Cystinosis, Nephropathic
Cerebral calcification, Cerebral atrophy, Retinopathy, Failure to thrive in infancy, Pigmentary r... OMIM:219800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Failure to thrive, Gray matter heterotopia, Hypoplasia of the corpus callosum ORPHA:453499
Wolman Disease
Cachexia ORPHA:75233
Cockayne Syndrome
Cerebral calcification, Cerebral atrophy, Cerebral dysmyelination, Retinal degeneration, Progress... ORPHA:191
Ménétrier Disease
Weight loss ORPHA:2494
Somatostatinoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:97283
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Nijmegen Breakage Syndrome
Microcephaly, Abnormality of neuronal migration, Cachexia ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Vipoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:97282
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:276621
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Tsh-Secreting Pituitary Adenoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:91347
Whipple Disease
Cachexia, Hydrocephalus ORPHA:3452
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Grfoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:97261
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian polymicrogyria, Microcepha... ORPHA:98889
Aredyld Syndrome
Cachexia ORPHA:1133
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Short Syndrome
Weight loss ORPHA:3163
Felty Syndrome
Weight loss ORPHA:47612
Polymyositis
Weight loss ORPHA:732
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... OMIM:210710
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Agenesis of corpus callosum, Arrhinencephaly, Anencephaly, Gray matte... OMIM:236680
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Weight loss ORPHA:183
Glucagonoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:97280
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Symptomatic Form Of Hemochromatosis Type 1
Weight loss ORPHA:465508
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Pneumocystosis
Weight loss ORPHA:723
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Periventricular heterotopia, Dilated third ventricle, Open operculum, M... ORPHA:434179
Giant Cell Arteritis
Weight loss, Optic atrophy ORPHA:397
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Norrie Disease
Abnormal vitreous humor morphology, Abnormality of the diencephalon, Retinal detachment, Remnants... ORPHA:649
Refractory Celiac Disease
Weight loss ORPHA:398063
Postinfectious Vasculitis
Retinal vasculitis, Weight loss, Ischemic stroke ORPHA:48435
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Weight loss ORPHA:139402
Cystic Echinococcosis
Eosinophilia, Weight loss ORPHA:400
Budd-Chiari Syndrome
Weight loss ORPHA:131
Fanconi Anemia
Patent ductus arteriosus, Microcephaly, Spina bifida, Hydrocephalus, Weight loss ORPHA:84
Choreoacanthocytosis
Caudate atrophy, Abnormal putamen morphology, Hypoplastic hippocampus, Abnormal hippocampus morph... ORPHA:2388
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Hypertensive retinopathy, Weight loss ORPHA:29072
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Agenesis of corpus callosum, Abnormality of the optic nerve, Optic nerve hypoplasia, Gray matter ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Agenesis of corpus callosum, Abnormality of the optic nerve, Optic nerve hypoplasia, Gray matter ... ORPHA:352665
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Primary Myelofibrosis
Cachexia ORPHA:824
Fontaine Progeroid Syndrome
Hydrocephalus, Small for gestational age, Patent ductus arteriosus, Periventricular heterotopia, ... OMIM:612289
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Weight loss ORPHA:98849
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Thymoma
Weight loss ORPHA:99867
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Weight loss OMIM:607459
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Hypoplasia of the corpus callosum, Cachexia, Hydrocephalus ORPHA:2072
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Igg4-Related Kidney Disease
Eosinophilia, Abnormality of the anterior pituitary, Weight loss ORPHA:449395
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
African Trypanosomiasis
Optic neuritis, Papilledema, Myelopathy, Abnormal prolactin level, Abnormal basal ganglia MRI sig... ORPHA:3385
Granulomatosis With Polyangiitis
Weight loss, Retinal hemorrhage OMIM:608710
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Weight loss, Increased body weight, Decreased body weight ORPHA:2298
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Hermansky-Pudlak Syndrome
Ocular albinism, Weight loss, Abnormality of the optic nerve ORPHA:79430
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Weight loss, Pituitary ... ORPHA:652
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Polycythemia Vera
Weight loss ORPHA:729
Arima Syndrome
Occipital meningocele, Retinal dystrophy, Gray matter heterotopia, Chorioretinal coloboma OMIM:243910
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Al Amyloidosis
Weight loss ORPHA:85443
Pancreatoblastoma
Weight loss ORPHA:677
Schwartz-Jampel Syndrome
Microcephaly, Decreased body weight, Cachexia ORPHA:800
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Alveolar Echinococcosis
Eosinophilia, Weight loss ORPHA:284
Isolated Permanent Neonatal Diabetes Mellitus
Retinopathy, Failure to thrive, Weight loss ORPHA:99885
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Pyomyositis
Weight loss ORPHA:764
Genitopatellar Syndrome
Microcephaly, Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Tropical Pancreatitis
Weight loss ORPHA:103918
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Caroli Disease
Weight loss ORPHA:53035
Familial Thrombocytosis
Weight loss ORPHA:71493
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Abnormality of the optic nerve ORPHA:109
Lysosomal Acid Lipase Deficiency
Failure to thrive, Weight loss, Cachexia ORPHA:275761
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Q Fever
Weight loss ORPHA:781
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Cachexia ORPHA:1969
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Marfan Syndrome
Retinal detachment, Meningocele, Cachexia, Slender build ORPHA:558
Behçet Disease
Retinopathy, Optic neuritis, Retrobulbar optic neuritis, Weight loss ORPHA:117
Mucolipidosis Type Ii
Weight loss ORPHA:576
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Tubulointerstitial Nephritis And Uveitis Syndrome
Retinal vasculitis, Chorioretinal scar, Cystoid macular edema, Abnormality of retinal pigmentatio... ORPHA:91500
Castleman Disease
Weight loss ORPHA:160
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Brucellosis
Chorioretinitis, Failure to thrive, Weight loss, Small for gestational age ORPHA:1304
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Erdheim-Chester Disease
Weight loss ORPHA:35687
Granulomatosis With Polyangiitis
Retinopathy, Weight loss ORPHA:900
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Microsporidiosis
Weight loss, Cachexia ORPHA:2552
Rat-Bite Fever
Weight loss ORPHA:31205
Reactive Arthritis
Weight loss ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Malt Lymphoma
Weight loss ORPHA:52417
Multiple Myeloma
Weight loss ORPHA:29073
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Cachexia ORPHA:79076
Dermatomyositis
Abnormal eosinophil morphology, Weight loss ORPHA:221
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Weight loss, Chorioretinitis OMIM:181000
Nocardiosis
Weight loss, Chorioretinitis ORPHA:31204
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Weight loss, Abnormality of the optic nerve ORPHA:79078
Hepatocellular Carcinoma
Weight loss ORPHA:88673
Camurati-Engelmann Disease
Optic nerve compression, Optic atrophy, Cachexia, Slender build ORPHA:1328
Parathyroid Carcinoma
Weight loss ORPHA:143
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Proteus Syndrome
Chorioretinal coloboma, Abnormality of retinal pigmentation, Gray matter heterotopia, Cachexia, R... ORPHA:744
Stickler Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Cachexia, Slender build ORPHA:828
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
Failure to thrive, Weight loss ORPHA:90794
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Sarcoidosis
Eosinophilia, Weight loss ORPHA:797
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
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

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MGI Allele Allele Type Produced
Ccdc88atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccdc88atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ccdc88atm33776(L1L2_6XOspnEnh_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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