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Gene: Kif26a MGI:2447072

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

kinesin family member 26A

Synonyms:

N-11 kinesin

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 Kif26a 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 Kif26a (1 diseases)
Human diseases predicted to be associated with Kif26a (466 diseases)

The table below shows human diseases associated to Kif26a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cortical Dysplasia, Complex, With Other Brain Malformations 11		High, narrow palate, Hydrocephalus, Ileus, Growth delay, High palate, Polymicrogyria	OMIM:620156

The table below shows human diseases predicted to be associated to Kif26a by phenotypic similarity.

Disease	Matching phenotypes	Source
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Short stature, Aganglionic megacolon, Failure to th...	ORPHA:388
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss...	OMIM:613662
Aganglionosis, Total Intestinal	Total intestinal aganglionosis	OMIM:202550
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Hirschsprung Disease, Susceptibility To, 1	Constipation, Aganglionic megacolon, Enterocolitis, Vomiting	OMIM:142623
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:2576
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Diencephalic Syndrome	Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Hirschsprung Disease With Type D Brachydactyly	Aganglionic megacolon	OMIM:306980
X-Linked Complicated Corpus Callosum Dysgenesis	Aganglionic megacolon	ORPHA:1497
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los...	ORPHA:2198
Hirschsprung Disease, Susceptibility To, 2	Aganglionic megacolon	OMIM:600155
Hirschsprung Disease, Susceptibility To, 5	Aganglionic megacolon	OMIM:600156
Hirschsprung Disease, Susceptibility To, 4	Aganglionic megacolon	OMIM:613712
Alexander Disease Type I	Cachexia, Hydrocephalus, Vomiting, Dysphagia, Failure to thrive	ORPHA:363717
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Anal atresia	OMIM:235760
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Chronic constipation, Short-segment aganglionic megacolon	OMIM:619465
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Aganglionic megacolon, Cachexia	ORPHA:1438
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Small intes...	ORPHA:298
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Cachexia, Abnormal autonomic nervous system physiology, Dysphagi...	ORPHA:97229
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation	ORPHA:52503
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Malabsorption, Diarrhea, Furrowed tongue, Hamartomatous polyposis...	ORPHA:2930
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon	OMIM:235750
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, Inflammation of ...	OMIM:266600
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon	OMIM:235740
Hirschsprung Disease-Type D Brachydactyly Syndrome	Aganglionic megacolon	ORPHA:2150
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Aganglionic megacolon	ORPHA:2155
Corpus Callosum, Partial Agenesis Of, X-Linked	High palate, Hydrocephalus, Aganglionic megacolon	OMIM:304100
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Vomiting, Failure to thrive	OMIM:612075
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Idiopathic Achalasia	Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:930
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Growth delay, Neonata...	ORPHA:85284
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia, Pachygyria, Perisylvian polymicrogyria, Lissenceph...	ORPHA:171680
Wolman Disease	Growth delay, Esophageal varix, Cachexia, Steatorrhea	ORPHA:75233
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los...	OMIM:175500
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:52416
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Renpenning Syndrome	Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Anal atresia	ORPHA:3242
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Haddad Syndrome	Small for gestational age, Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic ner...	ORPHA:99803
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology, Constipation	ORPHA:897
Waardenburg Syndrome, Type 4B	Aganglionic megacolon	OMIM:613265
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cachexia, Narrow palate, Facial diplegia, Gastroesopha...	OMIM:618186
Christianson Syndrome	Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Dermotrichic Syndrome	Aganglionic megacolon, Proportionate short stature	ORPHA:99688
Intestinal Dysmotility Syndrome	Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Failu...	OMIM:620045
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Goldberg-Shprintzen Megacolon Syndrome	Pachygyria, Short stature, Aganglionic megacolon, Cleft palate	ORPHA:66629
Piebald Trait-Neurologic Defects Syndrome	Aganglionic megacolon	ORPHA:2885
X-Linked Lissencephaly With Abnormal Genitalia	Exocrine pancreatic insufficiency, Pachygyria, Aganglionic megacolon, Malabsorption	ORPHA:452
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Waardenburg Syndrome Type 2	Aganglionic megacolon	ORPHA:895
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Short stature, Anal atresia	ORPHA:884
Distal 16P11.2 Microdeletion Syndrome	Chronic constipation, Aganglionic megacolon, Obesity	ORPHA:261222
Mcdonough Syndrome	Short stature, Cachexia	ORPHA:2471
Waardenburg Syndrome, Type 4A	Aganglionic megacolon	OMIM:277580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Constipation, Failure to thrive in infancy, Cachexia	OMIM:616801
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Short stature, Cachexia	ORPHA:1933
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss	OMIM:191390
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa...	OMIM:155310
Desmoplastic Small Round Cell Tumor	Ileus, Cachexia, Weight loss	ORPHA:83469
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate, Weight loss	ORPHA:141152
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abnormality of ...	OMIM:611376
Pulmonary Blastoma	Weight loss	ORPHA:64741
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Congenital Central Hypoventilation Syndrome	Abnormality of the autonomic nervous system, Aganglionic megacolon	ORPHA:661
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia, Bowel incontinence, Optic atrophy	ORPHA:702
Neuroblastoma, Susceptibility To, 2	Aganglionic megacolon	OMIM:613013
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Silver-Russell Syndrome	Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Con...	ORPHA:813
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Adeno...	ORPHA:79076
Pseudomyxoma Peritonei	Intestinal obstruction, Weight loss, Constipation, Inflammation of the large intestine	ORPHA:26790
American Trypanosomiasis	Achalasia, Aganglionic megacolon, Diarrhea	ORPHA:3386
Cap Polyposis	Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Colorectal polyposis, Constipation	ORPHA:160148
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Short stature, Cachexia, Constipation, Severe failure to thrive, Intrauterine growth retardation	ORPHA:371364
Rett Syndrome	Cachexia, Constipation, Gastroesophageal reflux, Short stature	OMIM:312750
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Diarrhea, Steatorrhea, We...	ORPHA:2070
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophagea...	ORPHA:59315
Majeed Syndrome	Weight loss, Failure to thrive, Cachexia, Malabsorption	ORPHA:77297
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Short stature, Ileus, Constipation, Vomiting, Failure to thrive	OMIM:300352
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon	ORPHA:2151
Tuberculosis	Weight loss	ORPHA:3389
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Hydrocephalus, Abnormality of neuronal migration, Polymicro...	ORPHA:475
Reticular Dysgenesis	Failure to thrive, Diarrhea, Weight loss, Malabsorption	ORPHA:33355
Piebald Trait	Aganglionic megacolon	OMIM:172800
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia...	ORPHA:3440
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Polymicrogyria	ORPHA:220497
Laryngeal Neuroendocrine Tumor	Weight loss, Oral-pharyngeal dysphagia	ORPHA:100083
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon, Abnormality of neuronal migration	ORPHA:2318
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Diarrhea, Vomiting, Cachexia	ORPHA:42
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Attrv30M Amyloidosis	Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Whipple Disease	Gastrointestinal hemorrhage, Cachexia, Malabsorption, Hydrocephalus, Diarrhea	ORPHA:3452
Waardenburg Syndrome, Type 3	Aganglionic megacolon	OMIM:148820
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Cleft palate, Anteriorly placed anus, Constipation, Abnorma...	OMIM:239300
Waardenburg Syndrome Type 1	Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate	ORPHA:894
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Cleft palate, Growth delay, Anal atresia	OMIM:614749
Ramos-Arroyo Syndrome	Severe short stature, Aganglionic megacolon, Xerostomia, Chronic constipation, Smooth tongue, Abn...	ORPHA:1051
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Cachexia, Dysphagia	ORPHA:300605
Aredyld Syndrome	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:1133
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Polymicrogyria	ORPHA:220493
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss	ORPHA:103910
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr...	OMIM:250250
Hereditary Central Diabetes Insipidus	Growth delay, Diarrhea, Vomiting, Weight loss	ORPHA:30925
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di...	OMIM:162300
Trisomy 18	Short stature, Spina bifida, Cachexia, Esophageal atresia, Anencephaly, Narrow palate, Cleft pala...	ORPHA:3380
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Coli...	ORPHA:37042
Deafness-Vitiligo-Achalasia Syndrome	Achalasia, Severe short stature	ORPHA:3239
19Q13.11 Microdeletion Syndrome	Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia	ORPHA:217346
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate...	ORPHA:109
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv...	ORPHA:210122
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Pfapa Syndrome	Weight loss, Malabsorption	ORPHA:42642
Down Syndrome	Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Macroglossia, Anal atresia	ORPHA:870
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Short stature, Aganglionic megacolon, Cleft palate	OMIM:614207
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Short stature, Cleft palate, Ectopic anus, High palate, Failure to thrive,...	ORPHA:2473
Central Hypoventilation Syndrome, Congenital, 1	Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Abnormal autonom...	OMIM:209880
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Postnatal growth retardation, Growth delay, Gastroesophagea...	ORPHA:2896
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu...	ORPHA:2059
Galactose Epimerase Deficiency	Growth delay, Weight loss	ORPHA:79238
X-Linked Intellectual Disability, Cabezas Type	Cachexia, High palate, Obesity, Short stature	ORPHA:85293
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho...	ORPHA:1018
Wild Type Attr Amyloidosis	Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Abnormal autonom...	ORPHA:330001
Mednik Syndrome	Jejunal atresia, Diarrhea, Growth delay, Neonatal death, Volvulus, Microcolon	OMIM:609313
Nijmegen Breakage Syndrome	Anal stenosis, Short stature, Cachexia, Anorectal anomaly, Chronic diarrhea, Abnormality of neuro...	ORPHA:647
Achalasia-Microcephaly Syndrome	Growth delay, Achalasia	ORPHA:929
Orofaciodigital Syndrome V	Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Lobulated tongue, ...	OMIM:174300
Piebaldism	Aganglionic megacolon	ORPHA:2884
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Anteriorly placed anus, Growth delay, High palate, Bifid uvula	ORPHA:247262
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Short stature, Optic atrophy, Macroglossia, Gastroesophageal reflux, Const...	ORPHA:847
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Optic atrophy, Short stature, Cachexia	ORPHA:220295
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix...	ORPHA:131
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula	ORPHA:2919
Xfe Progeroid Syndrome	Failure to thrive, Severe short stature, Optic atrophy, Cachexia	OMIM:610965
Immunodeficiency 70	Celiac disease, Achalasia, Colitis	OMIM:618969
Toriello-Lacassie-Droste Syndrome	Growth delay, Failure to thrive, Aganglionic megacolon	ORPHA:3339
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Aganglionic megacolon, Constipation	OMIM:613603
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Diarrhea, Neoplasm of the liver, Constipation,...	ORPHA:653
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Deafness, Congenital, With Vitiligo And Achalasia	Achalasia, Short stature	OMIM:221350
Fatal Familial Insomnia	Weight loss, Constipation, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:600072
Toriello-Carey Syndrome	Aganglionic megacolon, Short stature, Postnatal growth retardation, Cleft palate, Anteriorly plac...	ORPHA:3338
Lysosomal Acid Lipase Deficiency	Cachexia, Diarrhea, Esophageal varix, Weight loss, Vomiting, Steatorrhea, Failure to thrive	ORPHA:275761
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Constipation, Ileus, Aganglionic megacolon, Microcolon	ORPHA:163746
X-Linked Agammaglobulinemia	Short stature, Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive	ORPHA:47
Primary Myelofibrosis	Cachexia	ORPHA:824
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon	OMIM:171400
Chronic Hiccup	Weight loss	ORPHA:396
Acute Myelomonocytic Leukemia	Eosinophilia, Weight loss	ORPHA:517
Goldberg-Shprintzen Syndrome	Pachygyria, Aganglionic megacolon, Polymicrogyria	OMIM:609460
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Short stature, Celiac disease, Abnormal intestine morphology, Delayed puberty, Achalasia, Exocrin...	OMIM:615952
Familial Visceral Myopathy	Aganglionic megacolon, Cleft palate	ORPHA:2604
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ...	ORPHA:263665
Tetrasomy 18P	Achalasia, Abnormality of neuronal migration	ORPHA:3307
Triple A Syndrome	Achalasia, Optic atrophy, Short stature	ORPHA:869
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Isaacs Syndrome	Weight loss	ORPHA:84142
Dystonia-Deafness Syndrome 1	Small for gestational age, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achalasia	OMIM:607371
Refractory Celiac Disease	Villous atrophy, Malabsorption, Chronic diarrhea, Weight loss, Protein-losing enteropathy, Jejunitis	ORPHA:398063
Celiac Disease, Susceptibility To, 1	Short stature, Celiac disease, Postnatal growth retardation, Diarrhea, Steatorrhea, Weight loss, ...	OMIM:212750
Duane-Radial Ray Syndrome	Anal stenosis, Aganglionic megacolon, Facial palsy, Spina bifida occulta, Anal atresia	OMIM:607323
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia	ORPHA:2400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption	ORPHA:935
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Short hard palate, Short stature	ORPHA:1969
Cartilage-Hair Hypoplasia	Rhizomelia, Aganglionic megacolon, Malabsorption, Spinal dysraphism, Disproportionate short-limb ...	ORPHA:175
Benign Recurrent Intrahepatic Cholestasis	Weight loss, Acholic stools, Chronic diarrhea, Hepatocellular carcinoma	ORPHA:65682
Bardet-Biedl Syndrome 1	Aganglionic megacolon, High, narrow palate, Obesity, Truncal obesity, Abdominal obesity, High palate	OMIM:209900
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis	OMIM:615190
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hydrocephalus, Sec...	OMIM:619377
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation, Hypoperistalsis	ORPHA:2241
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Large for gestational age, Esophageal atresia, Cle...	OMIM:229850
Fanconi Anemia	Aganglionic megacolon, Short stature, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydrocephalu...	ORPHA:84
Acquired Hypertrichosis Lanuginosa	Macroglossia, Chronic diarrhea, Glossitis, Weight loss	ORPHA:2221
Erythrokeratodermia Variabilis	Short stature, Weight loss	ORPHA:317
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Intestinal malrotation, Short stature, Periventricular heterotopia, Pylori...	OMIM:270400
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Short stature, Spina ...	ORPHA:567
Seckel Syndrome	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:808
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Weight loss	ORPHA:178029
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Cachexia, Hydrocephalus, Esophageal varix, Growth delay, Gastric ulcer, Delayed puberty	ORPHA:2072
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis	OMIM:277320
Acrofacial Dysostosis 1, Nager Type	Short stature, Aganglionic megacolon, Aqueductal stenosis, Velopharyngeal insufficiency, Hydrocep...	OMIM:154400
Igg4-Related Aortitis	Intestinal obstruction, Hypereosinophilia, Weight loss	ORPHA:449400
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Dysphagia	OMIM:615750
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Microsporidiosis	Cachexia, Peritonitis, Chronic diarrhea, Weight loss, Vomiting, Intermittent diarrhea, Glossitis,...	ORPHA:2552
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Diarrhea, Weight loss, Severe short-limb dwarfism, Failure to thrive	ORPHA:1842
Fg Syndrome Type 1	Short stature, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon,...	ORPHA:93932
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Xerostomia...	ORPHA:85443
Acrodermatitis Enteropathica	Short stature, Malabsorption, Chronic diarrhea, Furrowed tongue, Weight loss, Failure to thrive, ...	ORPHA:37
Schwartz-Jampel Syndrome	Short stature, Cachexia, Cleft palate, High palate, Decreased body weight	ORPHA:800
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Weight loss	ORPHA:33276
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Achalasia, Short stature	ORPHA:436174
Cockayne Syndrome	Optic disc pallor, Severe short stature, Cachexia, Postnatal growth retardation, Decreased nerve ...	ORPHA:191
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Short stature, Rhizomelia, Pyloric stenosis, Optic atrophy, Cleft palate, ...	ORPHA:818
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Optic disc coloboma, Aganglionic megacolon	ORPHA:959
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the...	ORPHA:90362
Anaplastic Thyroid Carcinoma	Weight loss, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Gastrointestinal dysmotility, Diarrhea, Protracted diarrhea, Bloody diarr...	ORPHA:67
Huntington Disease-Like 2	Weight loss	OMIM:606438
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Weight loss, Neoplasm of the re...	ORPHA:144
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Weight loss, Dysphagia	ORPHA:216866
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Rhabdoid Tumor	Neoplasm of the liver, Weight loss	ORPHA:69077
Mirage Syndrome	Short stature, Esophageal stricture, Hydrocephalus, Chronic diarrhea, Gastroesophageal reflux, De...	OMIM:617053
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Weight loss	OMIM:143880
Waardenburg Syndrome, Type 4C	Aganglionic megacolon	OMIM:613266
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Achalasia, Short stature, Dysphagia	ORPHA:79107
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Short stature, Optic atrophy, Abnormal autonomic nervous system physiolo...	OMIM:231550
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Weight loss, Neoplasm of th...	ORPHA:440437
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Anal atresia, Rectovaginal fistula	OMIM:236700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroparesis, Facial palsy, Constipation, Gastroesophageal reflux, Failure to thrive	OMIM:610131
Immunodeficiency 31C	Villous atrophy, Short stature, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Growth dela...	OMIM:614162
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, I...	ORPHA:85450
Non-Functioning Paraganglioma	Cranial nerve compression, Nausea, Weight loss	ORPHA:94080
Isolated Succinate-Coq Reductase Deficiency	Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss	ORPHA:3208
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Vomiting, Nausea, Weight loss	ORPHA:90003
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Cranial nerve compression, Weight loss, Abnormal glossoph...	ORPHA:221098
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Functional intestinal obstruction, Weight loss, Neoplasm of the li...	ORPHA:1333
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss...	ORPHA:679
Down Syndrome	Aganglionic megacolon, Short stature, Protruding tongue, Duodenal stenosis, Macroglossia, Anal at...	OMIM:190685
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Weight loss, Malabsorption	ORPHA:98850
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis	OMIM:619365
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Microcolon	OMIM:619362
Stickler Syndrome	Short stature, Slender build, Cachexia, Cleft palate, Macroglossia, Glossoptosis, Gastroesophagea...	ORPHA:828
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia	ORPHA:1332
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Weight loss	ORPHA:168816
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:767
Camurati-Engelmann Disease	Facial palsy, Cachexia, Optic atrophy, Delayed puberty, Optic nerve compression, Slender build	ORPHA:1328
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Perianal abscess, Diarrhea, Weight loss, Chronic constipation, Inflammation of...	OMIM:301074
Takayasu Arteritis	Gastrointestinal infarctions, Weight loss	ORPHA:3287
Scleromyxedema	Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia, Hypoperistalsis	ORPHA:167635
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Hypereosinophilia, Weight loss	ORPHA:2902
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Eosinophilia, Malabsorption, Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:183
Posterior Column Ataxia With Retinitis Pigmentosa	Achalasia, Decreased sensory nerve conduction velocity, Optic atrophy	OMIM:609033
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Schinzel-Giedion Syndrome	Aganglionic megacolon, Failure to thrive in infancy, Anteriorly placed anus, Macroglossia, Neural...	ORPHA:798
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Eosinophilia, Celiac disease, Diarrhea, Weight loss, Constipation, Failu...	ORPHA:199299
Yao Syndrome	Diarrhea, Xerostomia, Weight loss	OMIM:617321
Nephroblastoma	Neoplasm of the liver, Weight loss	ORPHA:654
Follicular Lymphoma	Weight loss	ORPHA:545
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation	OMIM:619431
Marfan Syndrome	Cachexia, High, narrow palate, Meningocele, Cleft palate, Slender build	ORPHA:558
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Weight loss	ORPHA:324964
Gm1 Gangliosidosis	Short stature, Optic atrophy, Weight loss, Macroglossia, Gastroesophageal reflux, Dysphagia, Fail...	ORPHA:354
Immunodeficiency 27A	Diarrhea, Weight loss	OMIM:209950
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Growth delay, Colitis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Generalized Pseudohypoaldosteronism Type 1	Vomiting, Failure to thrive in infancy, Proportionate short stature, Weight loss	ORPHA:171876
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,...	ORPHA:100078
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Horner syndrome, Weight loss	OMIM:256700
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Achalasia, Short stature, Gastroesophageal reflux, Cleft palate	OMIM:600987
Neuroendocrine Tumor Of The Rectum	Bloody diarrhea, Hematochezia, Protracted diarrhea, Melena, Weight loss, Constipation	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Bloody diarrhea, Hematochezia, Protracted diarrhea, Melena, Weight loss, Constipation	ORPHA:100082
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Nausea	ORPHA:2828
Polymyositis	Gastrointestinal hemorrhage, Constipation, Gastroesophageal reflux, Weight loss	ORPHA:732
Focal Myositis	Weight loss	ORPHA:48918
Achalasia, Familial Esophageal	Achalasia, Xerostomia	OMIM:200400
Perry Syndrome	Weight loss	ORPHA:178509
Multisystemic Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypoperistalsis	OMIM:613834
Chops Syndrome	Short stature, Gastroparesis, High, narrow palate, Optic atrophy, Obesity, Constipation, Gastroes...	OMIM:616368
8P23.1 Microdeletion Syndrome	Short stature, Obesity, Weight loss, Growth delay, High palate, Intrauterine growth retardation	ORPHA:251071
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Gastroparesis, Small for gestational age, Growth delay, Neonatal death, Intrauterine growth retar...	OMIM:614052
Neuroendocrine Tumor Of The Colon	Melena, Weight loss, Protracted diarrhea, Bloody diarrhea	ORPHA:100080
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia, Dysphagia	OMIM:300858
Glucose-Galactose Malabsorption	Diarrhea, Failure to thrive, Vomiting, Weight loss	ORPHA:35710
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss	ORPHA:411703
Imerslund-Gräsbeck Syndrome	Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis	ORPHA:35858
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Weig...	ORPHA:913
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Orthostatic hypotension due to autonomic dysfunction, Dysphagia	ORPHA:411602
Thymoma	Neoplasm of the gastrointestinal tract, Ulcerative colitis, Weight loss	ORPHA:99867
Holocarboxylase Synthetase Deficiency	Growth delay, Weight loss	ORPHA:79242
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Solitary Fibrous Tumor	Neoplasm of the liver, Constipation, Weight loss	ORPHA:2126
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Intestinal pseudo-obstruction, Gastroparesis	ORPHA:70595
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Achalasia, Esophageal stenosis, Orthostatic hypotension, Dysphagia	OMIM:615510
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Growth delay, Failure to thrive, Severe short stature, Aganglionic megacolon	ORPHA:2273
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Nausea, Weight loss	ORPHA:71273
Systemic Mastocytosis With Associated Hematologic Neoplasm	Eosinophilia, Peptic ulcer, Diarrhea, Weight loss, Nausea	ORPHA:98849
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, We...	ORPHA:537
Mowat-Wilson Syndrome	Short stature, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, Cleft palate...	OMIM:235730
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Neuroendocrine Tumor Of Stomach	Hematemesis, Bloody diarrhea, Melena, Protracted diarrhea, Weight loss, Zollinger-Ellison syndrom...	ORPHA:100075
Thymic Carcinoma	Weight loss	ORPHA:99868
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Microcolon, Ileal atresia	OMIM:619351
Osteosarcoma	Weight loss	ORPHA:668
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Weight loss, Intestinal pseudo-obstruction, Dysphagia	OMIM:607459
Proximal Spinal Muscular Atrophy	Gastroparesis, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia	ORPHA:70
Ppoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Weight loss, Constipation, Intesti...	ORPHA:97278
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cranial nerve compression, Nausea, Weight loss	ORPHA:276621
Klatskin Tumor	Cholangiocarcinoma, Weight loss	ORPHA:99978
Leishmaniasis	Weight loss	ORPHA:507
Bullous Pemphigoid	Weight loss	ORPHA:703
Chronic Beryllium Disease	Weight loss	ORPHA:133
Caroli Disease	Cholangiocarcinoma, Esophageal varix, Weight loss, Vomiting, Nausea	ORPHA:53035
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Mowat-Wilson Syndrome	Decreased body weight, Aganglionic megacolon, Short stature, Bowel incontinence, Periventricular ...	ORPHA:2152
Intellectual Disability-Alacrima-Achalasia Syndrome	Achalasia, Dysphagia	ORPHA:289483
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Gastroparesis, Short stature, Small for gestational age, Perisylvian polymicrogyria, Obesity, Del...	ORPHA:98754
Prader-Willi Syndrome	Short stature, Gastroparesis, Perisylvian polymicrogyria, Xerostomia, Abdominal obesity, Vomiting...	ORPHA:739
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Short stature, Aganglionic megacolon, Cleft palate, Growth delay, Neonatal death	OMIM:308205
Liposarcoma	Weight loss	ORPHA:69078
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Weight loss	ORPHA:160
Aicardi-Goutieres Syndrome 9	Intrauterine growth retardation, Failure to thrive, Optic atrophy, Weight loss	OMIM:619487
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Gastropa...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Gastropa...	ORPHA:352665
Immunodeficiency 77	Gastroparesis	OMIM:619223
Primary Hepatic Neuroendocrine Carcinoma	Neoplasm of the liver, Diarrhea, Nausea, Weight loss	ORPHA:100085
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Gastroparesis, Short stature, Small for gestational age, Perisylvian polymicrogyria, Obesity, Del...	ORPHA:98793
Giant Cell Arteritis	Gastrointestinal infarctions, Optic atrophy, Glossitis, Weight loss	ORPHA:397
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Gastroparesis, Short stature, Small for gestational age, Perisylvian polymicrogyria, Obesity, Del...	ORPHA:177904
Addison Disease	Orthostatic hypotension, Celiac disease, Diarrhea, Weight loss, Constipation, Delayed puberty, Fa...	ORPHA:85138
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Gastroparesis, Short stature, Small for gestational age, Perisylvian polymicrogyria, Obesity, Del...	ORPHA:177901
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Weight loss, Hepatocellular carcinoma	ORPHA:465508
Somatostatinoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Weight loss, Constipation, Steator...	ORPHA:97283
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Failure to thrive, Aganglionic megacolon, Short stature, Bowel incontinence, Periventricular hete...	ORPHA:261537
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Polymicrogyria, Gastroparesis, Bowel incontinence	OMIM:618877
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Grfoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Weight loss, Zollinger-Ellison syn...	ORPHA:97261
Heart Defects, Congenital, And Other Congenital Anomalies	Intestinal malrotation, Colon perforation, Intrauterine growth retardation, Failure to thrive, Mi...	OMIM:600001
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Weight loss, Constipation, Abnorma...	ORPHA:97280
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Esophageal stricture, Diarrhea, Weight loss, Dysphagia	ORPHA:36426
Acute Adrenal Insufficiency	Orthostatic hypotension, Diarrhea, Weight loss, Constipation, Delayed puberty, Failure to thrive	ORPHA:95409
Proteus Syndrome	Gray matter heterotopia, Cachexia	ORPHA:744
Norrie Disease	Failure to thrive, Optic atrophy, Cachexia, Delayed puberty	ORPHA:649
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Familial Glucocorticoid Deficiency	Diarrhea, Weight loss, Constipation, Vomiting, Failure to thrive	ORPHA:361
Short Syndrome	Severe short stature, Weight loss	ORPHA:3163
Systemic Capillary Leak Syndrome	Diarrhea, Weight loss	ORPHA:188
Vipoma	Malabsorption, Secretory diarrhea, Weight loss, Hematochezia, Neoplasm of the liver, Abnormal gas...	ORPHA:97282
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Failure to thrive, Aganglionic megacolon, Short stature, Bowel incontinence, Periventricular hete...	ORPHA:261552
Reactive Arthritis	Inflammation of the large intestine, Recurrent aphthous stomatitis, Diarrhea, Weight loss	ORPHA:29207
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Chronic constipation, Gastroesophageal reflux, Dysphagia, Achalasia...	OMIM:619482
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Nausea, Weight loss	ORPHA:100086
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Weight loss	ORPHA:54251
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroparesis, Facial palsy, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, F...	ORPHA:254892
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Weight loss, Malabsorption	ORPHA:79430
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Gastroparesis, Facial palsy, Dysphagia	OMIM:157640
Acute Transverse Myelitis	Orthostatic hypotension, Gastroparesis, Paralytic ileus, Constipation, Abnormal autonomic nervous...	ORPHA:139417
Mgat2-Cdg	Failure to thrive, Gastroesophageal reflux, Gastroparesis	ORPHA:79329
Polycythemia Vera	Gastrointestinal hemorrhage, Weight loss	ORPHA:729
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Intrauterine growth retardation, Achalasia, Short stature, Esophagitis	OMIM:615356
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Abnormal eosinophil morphology, Hepatocellular carcinoma, Celiac disease, Ulc...	ORPHA:171
Perry Syndrome	Weight loss	OMIM:168605
Hereditary Pheochromocytoma-Paraganglioma	Cranial nerve compression, Nausea, Weight loss	ORPHA:29072
Pemphigus Vulgaris	Weight loss	ORPHA:704
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Weight loss	ORPHA:91139
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Beta-Ketothiolase Deficiency	Diarrhea, Vomiting, Weight loss	ORPHA:134
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Weight loss, Constipation, Dysphagia	ORPHA:93672
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Weight loss, Intrauteri...	OMIM:615846
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Acute Promyelocytic Leukemia	Stomatitis, Weight loss	ORPHA:520
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Weight loss, Colitis, Vomiting, Anoperineal...	OMIM:619381
Rheumatoid Arthritis	Weight loss	OMIM:180300
Microphthalmia, Syndromic 1	Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Optic disc colobom...	OMIM:309800
Felty Syndrome	Weight loss	ORPHA:47612
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Hematemesis, Cranial nerve compression, Diarrhea, Weight loss, Mele...	ORPHA:652
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Weight loss	ORPHA:139402
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia	ORPHA:75565
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Bronchial Neuroendocrine Tumor	Weight loss, Protracted diarrhea	ORPHA:97287
Poems Syndrome	Papilledema, Weight loss	ORPHA:2905
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Facial palsy, Dysphagia	OMIM:164310
Parathyroid Carcinoma	Weight loss, Constipation, Peptic ulcer, Dysphagia	ORPHA:143
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Pneumocystosis	Weight loss	ORPHA:723
Cystic Echinococcosis	Eosinophilia, Weight loss	ORPHA:400
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Episodic vomiting, Weight loss	ORPHA:20
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Chronic Graft Versus Host Disease	Esophageal stricture, Diarrhea, Xerostomia, Weight loss, Abnormal esophagus morphology, Gastroeso...	ORPHA:99921
Sotos Syndrome	Gastroesophageal reflux, Constipation, Aganglionic megacolon	ORPHA:821
Fabry Disease	Short stature, Malabsorption, Optic atrophy, Delayed puberty, Achalasia	ORPHA:324
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Pancreatoblastoma	Diarrhea, Vomiting, Weight loss	ORPHA:677
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, Abnormal s...	ORPHA:2298
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Optic nerve hypoplasia, Proportionate short stature, Failure to thrive in infancy,...	ORPHA:500150
Thyrotoxic Periodic Paralysis	Constipation, Obesity, Abnormality of peripheral nerve conduction, Weight loss	ORPHA:79102
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Cystinosis, Nephropathic	Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dysphagia, Weight loss, G...	OMIM:219800
Rat-Bite Fever	Diarrhea, Vomiting, Parotitis, Weight loss	ORPHA:31205
Tropical Pancreatitis	Vomiting, Nausea, Weight loss	ORPHA:103918
Brucellosis	Abnormality of the gastrointestinal tract, Small for gestational age, Abnormality of the peripher...	ORPHA:1304
Peripheral Primitive Neuroectodermal Tumor	Weight loss	ORPHA:370348
Riddle Syndrome	Diarrhea, Short stature, Weight loss	ORPHA:420741
Alveolar Echinococcosis	Vomiting, Eosinophilia, Weight loss	ORPHA:284
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss	ORPHA:900
Anemia, Congenital Dyserythropoietic, Type Iv	Short stature, Weight loss	OMIM:613673
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Weight loss, Optic neuropathy, Abnormal salivary gland morph...	OMIM:181000
Mucolipidosis Type Ii	Postnatal growth retardation, Short stature, Weight loss	ORPHA:576
Behçet Disease	Gastrointestinal hemorrhage, Weight loss, Recurrent aphthous stomatitis, Malabsorption	ORPHA:117
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Esophagitis, Dysphagi...	ORPHA:198
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, High palate, Dysphagia	ORPHA:2020
Multiple Myeloma	Functional abnormality of the gastrointestinal tract, Weight loss	ORPHA:29073
Postinfectious Vasculitis	Weight loss, Unusual gastrointestinal infection, Abnormality of the peripheral nervous system, Ga...	ORPHA:48435
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Weight loss	ORPHA:85408
Restrictive Dermopathy	Intrauterine growth retardation, Submucous cleft hard palate, Microcolon	ORPHA:1662
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Weight loss, Enlargement of parotid gland, Abnormal salivary gland morphology, Optic ...	ORPHA:79078
Igg4-Related Retroperitoneal Fibrosis	Constipation, Weight loss	ORPHA:49041
Isolated Permanent Neonatal Diabetes Mellitus	Intrauterine growth retardation, Failure to thrive, Weight loss	ORPHA:99885
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Cardiospondylocarpofacial Syndrome	Failure to thrive, Gastroesophageal reflux, Short stature, Gastroparesis	OMIM:157800
Dermatomyositis	Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Malt Lymphoma	Constipation, Weight loss	ORPHA:52417
Isolated Congenital Alacrima	Achalasia	ORPHA:91416
Q Fever	Weight loss	ORPHA:781
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Tsh-Secreting Pituitary Adenoma	Weight loss, Vomiting, Delayed puberty	ORPHA:91347
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Diarrhea, Increased body weight...	ORPHA:99889
Choreoacanthocytosis	Protruding tongue, Weight loss, Abnormal autonomic nervous system physiology, Dysphagia, Decrease...	ORPHA:2388
Familial Thrombocytosis	Weight loss	ORPHA:71493
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Weight loss	ORPHA:50918
Sarcoidosis	Abnormality of the gastrointestinal tract, Eosinophilia, Facial palsy, Weight loss, Enlargement o...	ORPHA:797
Pyomyositis	Weight loss	ORPHA:764
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Short stature, Vomiting, Weight loss	ORPHA:90794
African Trypanosomiasis	Papilledema, Myelopathy, Diarrhea, Weight loss, Vomiting, Nausea	ORPHA:3385
Hutchinson-Gilford Progeria Syndrome	Weight loss, High palate, Severe failure to thrive, Delayed menarche, Ankyloglossia	ORPHA:740
Nocardiosis	Peritonitis, Vomiting, Weight loss	ORPHA:31204
Igg4-Related Kidney Disease	Sialadenitis, Eosinophilia, Weight loss	ORPHA:449395
Primary Fanconi Renotubular Syndrome	Growth delay, Weight loss	ORPHA:3337
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Weight loss	ORPHA:91500
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Hydrocephalus, Ileus, Growth delay, High palate, Polymicrogyria	OMIM:620156
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 Kif26a

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 Kif26a.

No publications found that use IMPC mice or data for Kif26a.

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
Kif26a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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