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

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
Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Progressive microce... 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
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Failure to thrive, Periventricula... OMIM:608097
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology, Simplified gyral... ORPHA:329228
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicro... OMIM:604213
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Periventricular n... OMIM:617201
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Huntington Disease-Like 2
Weight loss, Caudate atrophy, Cerebral cortical atrophy, Abnormal cerebral morphology, Abnormal c... ORPHA:98934
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
3-Hydroxyisobutyric Aciduria
Microcephaly, Congenital intracerebral calcification, Failure to thrive, Abnormality of neuronal ... OMIM:236795
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Hypoplasia of the corpus callosum, Thick cerebral cortex,... OMIM:618677
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Failure to thrive, Abnormality of neuronal migration ORPHA:1314
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Optic atrophy OMIM:618572
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Tuberculosis
Weight loss ORPHA:3389
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Abnormal cerebral white matter morphology, Cachexia, Weight loss OMIM:613662
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Gray matter heterotopia, Macular hypoplasia, Simplified gyral pattern, Optic atroph... OMIM:615219
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Gray matter heterotopia ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Anencephaly, Retinal... OMIM:615287
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormal retinal morphology, Abno... ORPHA:89844
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Gray matter heterotopia, Retin... OMIM:615960
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Juvenile Huntington Disease
Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology, Weight loss ORPHA:248111
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Walker-Warburg Syndrome
Pachygyria, Chorioretinal dysplasia, Hydrocephalus, Absent septum pellucidum, Retinal dystrophy, ... ORPHA:899
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Moynahan Syndrome
Microcephaly, Cachexia ORPHA:2574
Idiopathic Achalasia
Weight loss ORPHA:930
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Simpl... OMIM:616212
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebral white matter morphology, Abnormality of neuronal migration, Truncal obesity, Sm... OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Abnormality of neuronal migration OMIM:608840
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Progressive microce... OMIM:617507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Pachygyria, Type II lissencephaly, Gray matter heterotop... OMIM:614643
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chronic Hiccup
Weight loss ORPHA:396
Classic Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Pigmentary retinopathy, Weight loss, Rod-cone dystro... ORPHA:216866
Isaac Syndrome
Weight loss ORPHA:84142
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Cachexia, Optic disc pallor, Abnormality of macular pigmentation ORPHA:97229
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia OMIM:164180
Mulibrey Nanism
Cachexia ORPHA:2576
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia... ORPHA:370959
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Erythrokeratodermia Variabilis
Microcephaly, Weight loss ORPHA:317
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Huntington Disease
Decreased body mass index, Abnormal cerebral white matter morphology, Cerebral atrophy, Weight lo... ORPHA:399
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Weight loss OMIM:605543
Flynn-Aird Syndrome
Rod-cone dystrophy, Cerebral cortical atrophy, Cachexia, Cerebral calcification ORPHA:2047
Desmosterolosis
Pachygyria, Hydrocephalus, Absent septum pellucidum, Patent ductus arteriosus, Abnormality of neu... ORPHA:35107
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive, Abnormality of neuronal migration ORPHA:1895
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Cerebral cortical atrophy... ORPHA:2518
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Periventricular heterotopia, Abn... OMIM:618476
Christianson Syndrome
Cerebral cortical atrophy, Cachexia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:85278
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cavum septum pellucidum, Partial agenesis of the corpus callosum OMIM:619074
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Hypointensity of cerebral white matter on MRI, Weight loss, Cachexia, Leukoencepha... OMIM:603041
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Huntington Disease-Like 1
Cerebral cortical atrophy, Abnormality of the basal ganglia, Weight loss ORPHA:157941
Xfe Progeroid Syndrome
Microcephaly, Optic atrophy, Cachexia OMIM:610965
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Periventricular nodu... OMIM:603671
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Periventricular heterotopia OMIM:618974
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Optic neuritis, Dysgyria, Microcephaly, Optic atrophy,... ORPHA:135
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Microcephaly, Cachexia, Cerebral calcification ORPHA:1933
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria, Cerebral calcification, Microc... OMIM:617397
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormal cerebral white matter morphology, Weight loss, Cachexia, Leukoencephalopathy ORPHA:298
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Gray matter heterotopia, Cerebr... ORPHA:1493
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cerebral cortical atrophy, Cachexia, Microcephaly, Optic atrophy ORPHA:702
Huntington Disease-Like 2
Weight loss OMIM:606438
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypoplasia of the corpus callosum, Cerebral atrophy, Failure to thrive in infancy, Cachexia, Micr... OMIM:616801
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migrat... ORPHA:2318
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, Microcephaly, Cachexia OMIM:618186
Hodgkin Lymphoma
Weight loss ORPHA:98293
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Abnormality of the ... ORPHA:157
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormal... ORPHA:75857
Gm1 Gangliosidosis
Abnormal cerebral white matter morphology, Patent ductus arteriosus, Weight loss, Encephalomalaci... ORPHA:354
Focal Myositis
Weight loss ORPHA:48918
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migration ORPHA:93274
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Mast Cell Sarcoma
Weight loss ORPHA:66661
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Abnormality of the optic ... ORPHA:65
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Periventricular heterotopia, Attenu... ORPHA:468631
Joubert Syndrome
Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Abnormality of neuronal... ORPHA:475
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal cerebral white matter morphology, Retinal cotton wool spot, Focal hypointensity of cereb... ORPHA:247691
Renpenning Syndrome
Microcephaly, Cachexia ORPHA:3242
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Macrogyria, Abnormal ... ORPHA:2211
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Weight loss, Pituitary null cell adenoma, Increased circulating... ORPHA:97289
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Vici Syndrome
Gray matter heterotopia, Ocular albinism, Hypopigmentation of the fundus, Failure to thrive, Schi... OMIM:242840
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Intracerebral periventricular calcifications, Abnormality of neuronal ... ORPHA:228308
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Follicular Lymphoma
Weight loss ORPHA:545
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, ... OMIM:247200
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrog... ORPHA:2671
Attrv30M Amyloidosis
Vitreous floaters, Weight loss ORPHA:85447
Galloway-Mowat Syndrome
Microcephaly, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration ORPHA:2065
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia ORPHA:2655
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Patent ductus arteriosus, Weight loss ORPHA:1842
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Gerstmann-Straussler Disease
Neurofibrillary tangles, Weight loss OMIM:137440
Perry Syndrome
Weight loss ORPHA:178509
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Pigmentary retinopathy, Gray matter heterotopia, Paten... OMIM:214100
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of the optic nerve, Failu... OMIM:605039
Pleural Mesothelioma
Weight loss ORPHA:50251
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Microcephaly, Optic atrophy, Retinopathy, Hydrocephalus ORPHA:220295
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter morphology, ... ORPHA:206436
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Intracerebral periventricular calcifications, Abnormality of neuronal migrat... OMIM:608836
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Gray matter heterotopia OMIM:617822
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Aicardi Syndrome
Chorioretinal lacunae, Cavum septum pellucidum, Spina bifida, Pachygyria, Gray matter heterotopia... OMIM:304050
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia OMIM:187600
Radio-Tartaglia Syndrome
Microcephaly, Gray matter heterotopia, Agenesis of corpus callosum, Obesity OMIM:619312
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Pfapa Syndrome
Weight loss ORPHA:42642
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Cachexia, Severe failure to thrive ORPHA:371364
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Gray matter heterotopia OMIM:618797
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Rett Syndrome
Cerebral cortical atrophy, Secondary microcephaly, Cachexia OMIM:312750
8P23.1 Microdeletion Syndrome
Microcephaly, Patent ductus arteriosus, Weight loss, Obesity ORPHA:251071
Liposarcoma
Weight loss ORPHA:69078
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration ORPHA:44
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Abnormality of neuronal migration, C... ORPHA:464311
Mcdonough Syndrome
Cachexia ORPHA:2471
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Takayasu Arteritis
Retinopathy, Weight loss ORPHA:3287
Neurocutaneous Melanocytosis
Meningocele, Chorioretinal coloboma, Abnormality of retinal pigmentation, Abnormality of neuronal... ORPHA:2481
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, Cachexia, Amyotrophic lateral sclerosis ORPHA:300605
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Osteosarcoma
Weight loss ORPHA:668
Rhabdoid Tumor
Weight loss ORPHA:69077
Kaposi Sarcoma
Abnormal retinal morphology, Weight loss ORPHA:33276
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the corpus callosum, Abnormality of ne... ORPHA:192
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal lower motor neuron morphology ORPHA:93941
Bullous Pemphigoid
Weight loss ORPHA:703
Rift Valley Fever
Abnormal retinal artery morphology, Retinopathy, Weight loss ORPHA:319251
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Colpocephaly, Periventricular heterotopia ORPHA:261250
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Cap Polyposis
Weight loss ORPHA:160148
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Non-Functioning Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:94080
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling, Agenesis of corpus callosum, Perivent... OMIM:618733
Thymic Carcinoma
Weight loss ORPHA:99868
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Lewy bodies, Weight loss ORPHA:411602
Acrodermatitis Enteropathica
Cerebral cortical atrophy, Failure to thrive, Weight loss ORPHA:37
X-Linked Creatine Transporter Deficiency
Microcephaly, Cachexia ORPHA:52503
19Q13.11 Microdeletion Syndrome
Microcephaly, Cachexia, Failure to thrive ORPHA:217346
Fryns-Smeets-Thiry Syndrome
Microcephaly, Cachexia ORPHA:2058
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Patent ductus arteriosus, Absent septum pellucidum OMIM:618870
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Simplified gyral pattern,... OMIM:601390
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
Holoprosencephaly
Panhypopituitarism, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Hydrocepha... ORPHA:2162
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microceph... ORPHA:314679
3C Syndrome
Chorioretinal coloboma, Optic atrophy, Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Celiac Disease, Susceptibility To, 1
Failure to thrive, Cerebral calcification, Weight loss OMIM:212750
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Immunodeficiency 27A
Weight loss OMIM:209950
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Poems Syndrome
Papilledema, Increased circulating prolactin concentration, Weight loss ORPHA:2905
Late-Onset Isolated Acth Deficiency
Weight loss, Adrenocorticotropic hormone deficiency, Failure to thrive, Eosinophilia, Pituitary a... ORPHA:199299
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Hydrocephalus, Gray matter heterotopia, Abnormal cort... OMIM:311200
Trisomy 18
Spina bifida, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the corpus callosum, Hol... ORPHA:3380
Deafness-Lymphedema-Leukemia Syndrome
Abnormality of the optic nerve, Weight loss ORPHA:3226
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Weight loss ORPHA:97287
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss ORPHA:1501
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Holoprosencephaly... OMIM:618820
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Silver-Russell Syndrome
Secondary microcephaly, Cachexia, Failure to thrive in infancy, Obesity ORPHA:813
Marburg Hemorrhagic Fever
Weight loss ORPHA:99826
Chronic Beryllium Disease
Weight loss ORPHA:133
Pemphigus Vulgaris
Weight loss ORPHA:704
3-Hydroxy-3-Methylglutaric Aciduria
Microcephaly, Weight loss, Leukoencephalopathy ORPHA:20
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Failure to thrive, Abnormality... ORPHA:2754
Nephroblastoma
Weight loss ORPHA:654
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Koolen-De Vries Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Small for g... OMIM:610443
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Optic disc coloboma, Abnormali... ORPHA:1454
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Subcortical band heteroto... OMIM:615546
Familial Colorectal Cancer Type X
Weight loss, Pituitary adenoma ORPHA:440437
Leishmaniasis
Weight loss ORPHA:507
X-Linked Intellectual Disability, Cabezas Type
Microcephaly, Cachexia, Obesity ORPHA:85293
Polyarteritis Nodosa
Weight loss ORPHA:767
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Lynch Syndrome
Weight loss, Pituitary adenoma ORPHA:144
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia ORPHA:1860
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Oculopharyngodistal Myopathy 1
Abnormal cerebral white matter morphology, Weight loss OMIM:164310
Tetrasomy 12P
Cachexia ORPHA:884
Riddle Syndrome
Microcephaly, Abnormal cerebral white matter morphology, Weight loss ORPHA:420741
Yao Syndrome
Weight loss OMIM:617321
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Periventricular nodul... OMIM:618918
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Ppoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97278
Eosinophilic Gastroenteritis
Eosinophilia, Weight loss ORPHA:2070
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:913
Oromandibular Dystonia
Weight loss ORPHA:93958
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Retinal coloboma, Holoprosencephaly, Hypoplasia of the corpus callos... OMIM:615948
Fatal Familial Insomnia
Weight loss OMIM:600072
Rheumatoid Arthritis
Weight loss OMIM:180300
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:305450
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Klatskin Tumor
Weight loss ORPHA:99978
Pagod Syndrome
Spina bifida, Abnormality of neuronal migration, Meningocele, Microcephaly, Optic atrophy ORPHA:991
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Failure to thrive, Gray matter heterotopia ORPHA:453499
Somatostatinoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97283
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Cerebral atrophy, R... ORPHA:191
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:276621
Seckel Syndrome
Microcephaly, Cachexia ORPHA:808
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Nijmegen Breakage Syndrome
Microcephaly, Cachexia, Abnormality of neuronal migration ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Microcephaly, Abnormality of neuronal migration ORPHA:3186
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97282
Tsh-Secreting Pituitary Adenoma
Abnormality of the pituitary gland, Increased circulating gonadotropin level, Elevated circulatin... ORPHA:91347
Wolman Disease
Cachexia ORPHA:75233
Perry Syndrome
Weight loss OMIM:168605
Grfoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97261
Whipple Disease
Cachexia, Hydrocephalus ORPHA:3452
Ménétrier Disease
Weight loss ORPHA:2494
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Aredyld Syndrome
Cachexia ORPHA:1133
Short Syndrome
Weight loss ORPHA:3163
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Abnormality of neuronal migration, Bilateral perisylvian polymicrogy... ORPHA:98889
Hydrolethalus Syndrome 1
Severe hydrocephalus, Absent septum pellucidum, Gray matter heterotopia, Arrhinencephaly, Anencep... OMIM:236680
Cryptosporidiosis
Failure to thrive, Weight loss ORPHA:1549
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Weight loss ORPHA:183
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Weig... ORPHA:97280
Felty Syndrome
Weight loss ORPHA:47612
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Polymyositis
Weight loss ORPHA:732
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Retinal coloboma, Hypoplasia of the corpus callosum, Patent ductus a... ORPHA:434179
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Pneumocystosis
Weight loss ORPHA:723
Giant Cell Arteritis
Optic atrophy, Weight loss ORPHA:397
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia, Failure to thrive, Hypoplasia of the frontal lobes, Microcep... OMIM:210710
Symptomatic Form Of Hemochromatosis Type 1
Weight loss ORPHA:465508
Refractory Celiac Disease
Weight loss ORPHA:398063
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Drug Rash With Eosinophilia And Systemic Symptoms
Eosinophilia, Weight loss ORPHA:139402
Fanconi Anemia
Spina bifida, Patent ductus arteriosus, Weight loss, Microcephaly, Hydrocephalus ORPHA:84
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Retinal capillary hemangioma, Weight loss ORPHA:29072
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Weight loss, Cerebral cortical atrophy, Abnorm... ORPHA:2388
Cystic Echinococcosis
Eosinophilia, Weight loss ORPHA:400
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of the optic nerve, Optic... ORPHA:453504
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Patent d... OMIM:612289
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of the optic nerve, Optic... ORPHA:352665
Primary Intestinal Lymphangiectasia
Failure to thrive, Weight loss ORPHA:90362
Congenital Tufting Enteropathy
Optic disc coloboma, Failure to thrive, Weight loss ORPHA:92050
Malignant Atrophic Papulosis
Abnormality of the optic nerve, Weight loss ORPHA:679
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Holoprosencephaly, Hypoplasia of the corpus callosum, Patent ductus ... OMIM:270400
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Primary Myelofibrosis
Cachexia ORPHA:824
Budd-Chiari Syndrome
Weight loss ORPHA:131
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Superficial Siderosis
Abnormal corpus callosum morphology, Dysgyria ORPHA:247245
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hypoplasia of the corpus callosum, Papilledema, Cachexia, Hydrocephalus ORPHA:2072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Weight loss ORPHA:98849
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Igg4-Related Kidney Disease
Eosinophilia, Weight loss, Abnormality of the anterior pituitary ORPHA:449395
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Ocular albinism, Weight loss ORPHA:79430
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:652
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Granulomatosis With Polyangiitis
Retinal hemorrhage, Weight loss OMIM:608710
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Increased body weight, Weight loss ORPHA:2298
Schwartz-Jampel Syndrome
Microcephaly, Cachexia, Decreased body weight ORPHA:800
Polycythemia Vera
Weight loss ORPHA:729
Arima Syndrome
Chorioretinal coloboma, Gray matter heterotopia, Retinal dystrophy, Occipital meningocele OMIM:243910
African Trypanosomiasis
Abnormal cerebral white matter morphology, Papilledema, Weight loss, Optic neuritis, Abnormal pro... ORPHA:3385
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Al Amyloidosis
Weight loss ORPHA:85443
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Retinopathy, Weight loss ORPHA:99885
Pancreatoblastoma
Weight loss ORPHA:677
Alveolar Echinococcosis
Eosinophilia, Weight loss ORPHA:284
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum, Colpocephaly, Periventricular heterotopia OMIM:606170
Pyomyositis
Weight loss ORPHA:764
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Cachexia ORPHA:1969
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Caroli Disease
Weight loss ORPHA:53035
Familial Thrombocytosis
Weight loss ORPHA:71493
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Bannayan-Riley-Ruvalcaba Syndrome
Abnormality of the optic nerve, Cachexia ORPHA:109
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Marfan Syndrome
Meningocele, Cachexia, Retinal detachment, Slender build ORPHA:558
Q Fever
Weight loss ORPHA:781
Thyrotoxic Periodic Paralysis
Weight loss, Obesity ORPHA:79102
Mucolipidosis Type Ii
Weight loss ORPHA:576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Granulomatosis With Polyangiitis
Retinopathy, Weight loss ORPHA:900
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Weight loss, Choroidal n... ORPHA:91500
Reactive Arthritis
Weight loss ORPHA:29207
Erdheim-Chester Disease
Weight loss ORPHA:35687
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Behçet Disease
Retrobulbar optic neuritis, Retinopathy, Weight loss, Optic neuritis ORPHA:117
Rat-Bite Fever
Weight loss ORPHA:31205
Brucellosis
Failure to thrive, Small for gestational age, Weight loss, Chorioretinitis ORPHA:1304
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Dermatomyositis
Abnormal eosinophil morphology, Weight loss ORPHA:221
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Retinal coloboma, Hypoplasia of the corpus callosum, Cerebral white ... ORPHA:261537
Castleman Disease
Weight loss ORPHA:160
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Retinal coloboma, Hypoplasia of the corpus callosum, Patent ductus a... ORPHA:261552
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Cachexia ORPHA:79076
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Malt Lymphoma
Weight loss ORPHA:52417
Nocardiosis
Weight loss, Chorioretinitis ORPHA:31204
Multiple Myeloma
Weight loss ORPHA:29073
Sarcoidosis, Susceptibility To, 1
Chorioretinitis, Weight loss, Optic neuropathy OMIM:181000
Parathyroid Carcinoma
Weight loss ORPHA:143
Proteus Syndrome
Chorioretinal coloboma, Abnormality of retinal pigmentation, Retinal nonattachment, Gray matter h... ORPHA:744
Mowat-Wilson Syndrome
Periventricular heterotopia, Retinal coloboma, Hypoplasia of the corpus callosum, Abnormal cerebr... ORPHA:2152
Stickler Syndrome
Slender build, Abnormal vitreous humor morphology, Cachexia, Retinal detachment ORPHA:828
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Weight loss ORPHA:99889
Camurati-Engelmann Disease
Slender build, Optic atrophy, Optic nerve compression, Cachexia ORPHA:1328
Hepatocellular Carcinoma
Weight loss ORPHA:88673
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
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Sarcoidosis
Eosinophilia, Weight loss ORPHA:797
Tropical Endomyocardial Fibrosis
Cachexia, Eosinophilia 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
Ccdc88atm33776(L1L2_6XOspnEnh_Bact_P) Targeting vectors

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