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Gene: Dnajc3 MGI:107373

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member C3
Synonyms:
p58IPK,  Dnajc3a,  Dnajc3b,  Dnajc3,  mp58,  Prkri

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 Dnajc3 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 Dnajc3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Diabetes mellitus, Decreased body weight ORPHA:445062
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Type I diabetes mellitus OMIM:616192

The table below shows human diseases predicted to be associated to Dnajc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gast... OMIM:615615
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... ORPHA:552
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Pituitary hypoth... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Pituitary hypoth... ORPHA:71526
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... OMIM:617006
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Gl... ORPHA:263455
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... OMIM:618108
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Inflammation of the large... OMIM:615767
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Polyphagia, Obesity OMIM:620195
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... OMIM:619281
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Failure to thrive... ORPHA:2088
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabetes insipidus, Jaundice, Nephro... OMIM:613404
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia OMIM:222100
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Glucose/Galactose Malabsorption
Failure to thrive, Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... OMIM:300635
Immunodeficiency 70
Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi... OMIM:618969
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Int... OMIM:227810
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis,... OMIM:617638
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... OMIM:604416
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Iron defic... OMIM:301074
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... ORPHA:79644
Cataract 47
Glycosuria OMIM:612018
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... ORPHA:97362
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... OMIM:246200
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Villous atrophy, Skin rash, Feeding difficulties in infancy, Spl... OMIM:616050
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... OMIM:618394
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Cryptorchidism, Abnormal panc... ORPHA:2849
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ... ORPHA:363400
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia... OMIM:137920
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Colitis, Hemophagocytosis, Recurrent sinusiti... OMIM:613101
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperinsul... ORPHA:79237
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... ORPHA:3085
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... OMIM:618987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... OMIM:616033
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switch... OMIM:614878
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycem... OMIM:175700
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... ORPHA:47159
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... ORPHA:67
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Dysphagia, Abnormal thymus morphology,... ORPHA:589
Fructose Intolerance, Hereditary
Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Jaundice, Bicarbonaturia,... OMIM:229600
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea, Chronic mucocu... ORPHA:98813
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, Failure to thrive, Exocrin... OMIM:616539
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis OMIM:615190
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue los... ORPHA:528
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega... OMIM:618935
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly, Atypical or prolo... OMIM:277900
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen... OMIM:269880
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglyc... ORPHA:134
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Renal insufficiency, Diabetes mellitus, Pancreatic fibrosis, De... ORPHA:699
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... ORPHA:300373
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, In... OMIM:617718
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Ureteral duplication, Diabetes mellitus, Failure to thrive, ... OMIM:600001
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin resistance, Insulin-resistant diabetes mel... ORPHA:79086
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... OMIM:614602
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, ... OMIM:242700
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... ORPHA:436159
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... OMIM:608594
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hyperglycemia, Ketonuria, Hypoglycemia OMIM:615453
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Precocious pub... ORPHA:769
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Atypical Werner Syndrome
Renal neoplasm, Decreased body weight, Diabetes mellitus, Lipoatrophy, Failure to thrive, Abnorma... ORPHA:79474
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Choles... ORPHA:440713
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperin... ORPHA:71212
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:269700
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... OMIM:602579
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Addictive alcohol use, Hyperglycemia ORPHA:90065
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decr... OMIM:203800
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsuline... OMIM:613327
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... OMIM:618213
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia ORPHA:48104
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Pancreatitis, Leukocytosi... ORPHA:90038
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Sepsis In Premature Infants
Small for gestational age, Splenomegaly, Leukocytosis, Gastrointestinal dysmotility, Diarrhea, En... ORPHA:90051
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decr... ORPHA:453533
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen... ORPHA:508
Scorpion Envenomation
Restlessness, Acute pancreatitis, Ketonuria, Glycosuria, Hyperglycemia, Acute kidney injury ORPHA:466677
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Cole Disease
Hyperglycemia OMIM:615522
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Pyruvate Carboxylase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Anorexia, Lacticaciduria, Compulsive behaviors, Ab... ORPHA:3008
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Jaundice, Chronic kidney disease, Dysphagia, H... ORPHA:447
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia,... ORPHA:514
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Erythroderma, Anemia, Colitis, Hemophagocytosis... ORPHA:540
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Eczema, Autoi... ORPHA:391487
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Hematochezia... OMIM:615895
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... ORPHA:443811
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis, Tubuloi... OMIM:124000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Ag... ORPHA:293987
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Wei... ORPHA:139402
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... ORPHA:3260
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, Hemophagocytosis... OMIM:308240
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Chronic diarrhea, Esophageal varix, Inflammation of the large intesti... OMIM:614576
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Syndromic Diarrhea
Dependency on intravenous nutrition, Villous atrophy, Small for gestational age, Hepatoblastoma, ... ORPHA:84064
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia ORPHA:230
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis OMIM:301220
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Abdominal pain, Intestinal perforation... ORPHA:544482
Dend Syndrome
Hyperglycemia ORPHA:79134
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Increased hepat... OMIM:220111
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, T... ORPHA:79259
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal eosinophil morphology, Abnormal large intesti... ORPHA:171
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ve... ORPHA:444077
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Splenomegaly, Gout, Inflammation of the large intestine, Protuberant ab... OMIM:232220
Fumarase Deficiency
Necrotizing enterocolitis, High palate, Hepatic failure, Failure to thrive, Polycythemia OMIM:606812
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99413
Turner Syndrome
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:881
Mosaic Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99228
Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99226
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H... OMIM:619991
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Splenomegaly, Lymp... ORPHA:707
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, ... OMIM:232240
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthri... OMIM:181000
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder, Obesity ORPHA:70591
Pmm2-Cdg
Multiple joint contractures, Lipodystrophy, Proteinuria, Elevated circulating growth hormone conc... ORPHA:79318
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Sarcoidosis
Abnormality of the gastrointestinal tract, Hemolytic anemia, Maculopapular exanthema, Eosinophili... ORPHA:797
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, H... ORPHA:2968
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gastrointestinal dysmotili... ORPHA:2152
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Diabetes mellitus, Decreased body weight ORPHA:445062
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Type I diabetes mellitus OMIM:616192

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 Dnajc3

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 Dnajc3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. Cell (November 2018) Dnajc30tm1(KOMP)Vlcg 30318146

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
Dnajc3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dnajc3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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