Gene Summary

Name:
arylformamidase
Synonyms:
Kf,  formylkynureninase,  formylase,  kynurenine formamidase,  9030621K19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating glucose level Afmidtm1b(EUCOMM)Wtsi HOM Early adult 3.46×10-05
increased mean corpuscular hemoglobin Afmidtm1b(EUCOMM)Wtsi HOM   Early adult 6.27×10-05
increased mean corpuscular volume Afmidtm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote Ambiguous
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

64 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

8 Images

Human diseases caused by Afmid 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Renal Glucosuria
Polyphagia, Polydipsia, Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:266900
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:606996
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal insufficienc... OMIM:619468
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Nephronophthisis 4
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:606966
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria, Polydipsia OMIM:304900
Nephronophthisis 3
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:604387
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Nephronophthisis 1
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:256100
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... OMIM:606995
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... ORPHA:93101
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Ochoa Syndrome
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... ORPHA:2704
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... ORPHA:99886
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus OMIM:618858
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... OMIM:616860
Nephronophthisis 11
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... OMIM:613550
Bardet-Biedl Syndrome 9
Hyperglycemia, Polydipsia, Renal insufficiency, Polyphagia OMIM:615986
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Polydipsia OMIM:613677
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... OMIM:262190
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Increased mean corpuscular volume, Methylmalonic aciduria, Homocystinuria, Megaloblasti... OMIM:277410
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... OMIM:248250
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... ORPHA:231222
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria, Polydipsia OMIM:304800
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Glomerulopathy, Neutropenia, Increased mean corpuscular volume, Hemolytic-urem... ORPHA:2169
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Distal renal tubular acidosis, Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis... OMIM:611590
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Cryptorchidism OMIM:617796
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Cystinosis
Renal tubular dysfunction, Polydipsia, Type I diabetes mellitus, Nephropathy, Aminoaciduria, Prot... ORPHA:213
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... ORPHA:2260
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Helix Syndrome
Polydipsia, Nephrolithiasis, Hypocalciuria, Polyuria, Renal insufficiency OMIM:617671
Bardet-Biedl Syndrome 17
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria OMIM:615994
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis OMIM:261650
Central Diabetes Insipidus
Nocturia, Polydipsia ORPHA:178029
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Hypocalciuria, Renal potassiu... OMIM:612780
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
East Syndrome
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Abnormal urinary electrolyte ... ORPHA:199343
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Nephrogenic Diabetes Insipidus
Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insuffic... ORPHA:223
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Diabetes mellitus, Renal salt wastin... OMIM:613845
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... ORPHA:811
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Refractory sideroblastic anemia, Diabetes mellitus, Type I diabetes melli... OMIM:557000
Dominant Beta-Thalassemia
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diabetes mellitus, Decrea... ORPHA:231226
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Diabetes mellitus, Type I diabetes mellitus OMIM:560000
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Polydipsia, Nephrocalcinosis ORPHA:320
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diab... ORPHA:231214
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate concentration, Fasting hyperin... ORPHA:35878
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Familial Cold Urticaria
Polydipsia ORPHA:47045
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Aminoaciduria, Polydipsia, Hypercalciuria, Polyuria OMIM:239200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... ORPHA:93111
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperactivity, Ataxia, Hyperglycinuria OMIM:239500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Abnormal... ORPHA:300298
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Fanconi-Bickel Syndrome
Hyperphosphaturia, Fasting hypoglycemia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubul... ORPHA:2088
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Polydipsia, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosu... ORPHA:411634
Senior-Boichis Syndrome
Renal hypoplasia, Polydipsia, Thickening of the tubular basement membrane, Abnormal renal insters... ORPHA:84081
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia ORPHA:251274
Gitelman Syndrome
Polydipsia, Salt craving, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, R... OMIM:263800
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Proximal tubulopathy, Decreased g... ORPHA:18
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Cirrhosis, Hepatic steatos... OMIM:606069
Diamond-Blackfan Anemia 7
Horseshoe kidney, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Vesicoureter... OMIM:612562
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Bicarbonate-wasting renal tubular... ORPHA:47159
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Horseshoe kidney, Elevated red cell adenosine deaminase level, Neutr... ORPHA:124
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Polydipsia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabet... ORPHA:769
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Polydipsia, Abnormal tubulo... ORPHA:411629
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Maternal diabetes, Hyperinsulinemia, Hyperglycemia OMIM:604367
Bartter Syndrome, Type 3
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... OMIM:607364
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... OMIM:613090
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hypospadias OMIM:175700
Cystinosis, Nephropathic
Renal Fanconi syndrome, Dysphagia, Generalized aminoaciduria, Polydipsia, Nephrolithiasis, Glycos... OMIM:219800
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithias... ORPHA:848
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Poikilocytosis, Chronic hemolytic ... OMIM:618278
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... ORPHA:567548
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased urinary cortisol level OMIM:615954
Donohue Syndrome
Fasting hypoglycemia, Long penis, Hyperglycemia, Postprandial hyperglycemia, Hyperinsulinemia OMIM:246200
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia ORPHA:369929
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume ORPHA:261250
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Attention deficit hyperactivity disorder, Increased circ... OMIM:188570
Wolfram Syndrome
Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Diabe... ORPHA:3463
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Maternal diabetes, Type II diabetes m... ORPHA:358
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hepatomegaly OMIM:615924
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Hypoplasia of penis, Polydipsia ORPHA:3157
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Anemia, Diabetes mellitus OMIM:609069
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion OMIM:248510
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612926
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:99880
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia ORPHA:525731
Glycine Encephalopathy
Hyperactivity, Hyperglycinuria, Lethargy OMIM:605899
Parathyroid Carcinoma
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:143
Whipple Disease
Polydipsia, Insulin resistance ORPHA:3452
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Uraciluria, Lethargy OMIM:274270
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloridur... OMIM:241200
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Oral aversion, Ketonuria ORPHA:134
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Renal tubular dysfunction, Pancreatic hypoplasia, Hyperglycemia,... ORPHA:99885
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Short Syndrome
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia OMIM:269880
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hyperactivity, Ataxia, Hepatic steatosis, Gait ataxi... ORPHA:363400
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Morm Syndrome
Hyperactivity, Micropenis, Abnormality of the kidney ORPHA:75858
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Aceruloplasminemia
Dystonia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Torticollis, Refrac... ORPHA:48818
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... OMIM:615710
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia, Dysuria, Abnormality of the urethra, Renal insufficiency ORPHA:537
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Erdheim-Chester Disease
Hydronephrosis, Dysuria, Renal insufficiency, Polydipsia ORPHA:35687
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis, Thrombocytop... ORPHA:391673
Castleman Disease
Ureteral obstruction, Hematuria, Anemia, Thrombocytopenia, Decreased mean corpuscular volume, Ren... ORPHA:160
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Acute kidney inju... ORPHA:731
Panhypophysitis
Hyposthenuria, Polydipsia ORPHA:95513
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... ORPHA:465508
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Renal insufficiency,... ORPHA:440713
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Congenital hypothyroidism, Hyperactivity, Diabetes mellitus, Cryptorchidism OMIM:614613
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Alazami-Yuan Syndrome
Hyperactivity, Cryptorchidism OMIM:617126
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Graves Disease, Susceptibility To, 1
Hyperactivity, Graves disease, Hyperhidrosis, Goiter OMIM:275000
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder, Cryptorchidism OMIM:614294
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... OMIM:601678
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Pancreatic hypoplasia, Maturity-onset diabetes of the young, Gluco... OMIM:137920
Phenylketonuria
Increased level of hippuric acid in urine, Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Eisenmenger Syndrome
Hepatomegaly, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency a... ORPHA:97214
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Enuresis, Polydipsia, Polyphagia ORPHA:293987
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-aminobuty... OMIM:271980
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Cryptorchidism, Proximal renal tubular acidosis OMIM:615824
Diarrhea 10, Protein-Losing Enteropathy Type
Renal dysplasia, Polyuria OMIM:618183
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia, Cryptorchidism ORPHA:98791
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased urinary urate, Decreased proportion of CD3-positive T cells... ORPHA:760
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... ORPHA:237
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Micropenis, Cryptorchidism OMIM:618504
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid l... OMIM:260400
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... ORPHA:99845
Dend Syndrome
Hyperglycemia ORPHA:79134
Hyperthyroidism, Nonautoimmune
Hyperactivity, Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria ORPHA:159
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615286
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Hypogonadism, Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Decreased test... OMIM:300354
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Lacticaciduria ORPHA:3008
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Hypogonadism, Hyperactivity, Attention deficit hyperactivity di... ORPHA:73272
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperglycemia OMIM:151660
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Hypoglycemia ORPHA:173
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
X-Linked Adrenoleukodystrophy
Gait disturbance, Adrenal insufficiency, Urinary bladder sphincter dysfunction, Hyperactivity, Ab... ORPHA:43
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum... ORPHA:85327
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Leprechaunism
Fasting hypoglycemia, Long penis, Insulin resistance, Nephrocalcinosis, Recurrent infantile hypog... ORPHA:508
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Macroorchidism, Broad-based gait ORPHA:3077
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:99819
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Gait disturbance, Neonatal hypoglycemia, Hyperactivity, Cryptorchidism ORPHA:457485
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Crypt... OMIM:141750
Argininemia
Hepatomegaly, Oroticaciduria, Portal fibrosis, Spastic gait, Micronodular cirrhosis, Diaminoacidu... OMIM:207800
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Fragile X Syndrome
Hyperactivity, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:424
Diffuse Cutaneous Systemic Sclerosis
Dysphagia, Renal insufficiency, Oliguria ORPHA:220393
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... ORPHA:330015
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252930
Myopathy With Extrapyramidal Signs
Dystonia, Leukocytosis, Hepatomegaly, Splenomegaly, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Zttk Syndrome
Horseshoe kidney, Polyuria, Unilateral renal agenesis OMIM:617140
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... OMIM:211900
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Scorpion Envenomation
Hyperglycemia, Acute kidney injury, Glycosuria, Ketonuria ORPHA:466677
47,Xyy Syndrome
Hypospadias, Macroorchidism, Increased serum testosterone level, Increased circulating gonadotrop... ORPHA:8
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Hyperactivity, Unilateral renal agenesis, Cryptorchidism, Precocious puberty ORPHA:3306
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Hyperactivity, Urinary incontinence, Nocturia OMIM:609727
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252940
Lassa Fever
Dysphagia, Oliguria ORPHA:99824
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism OMIM:300143
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Decreased urinary potassium, Urinary retention ORPHA:79102
2Q23.1 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Hypoplasia of penis, Ataxia ORPHA:228402
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Pancreatitis, Hepatic steatosis, Hypera... ORPHA:247585
Brain-Lung-Thyroid Syndrome
Hypospadias, Dystonia, Hypoparathyroidism, Congenital hypothyroidism, Megacystis, Falls, Thyroid ... ORPHA:209905
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Renal agenesis, Hydronephrosis, Hypochromic micr... OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Anemia, Abnormal hemoglobin, Recurrent urinary tract infections, Cryptorchidism, ... ORPHA:847
Hemorrhagic Fever-Renal Syndrome
Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular filtration rat... ORPHA:340
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Neoplasm of the thyroid gland, Pure red cell aplasia, ... ORPHA:99867
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Horseshoe kidney, Hypospadias, Vesicoureteral reflux ORPHA:444077
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Broad-based gait OMIM:300958
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Attention deficit hyperactivit... ORPHA:449291
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Acute kidney injury, Hemolytic-uremic syndrome OMIM:235400
Atypical Werner Syndrome
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... ORPHA:79474
Microscopic Polyangiitis
Glomerulopathy, Hematuria, Renal insufficiency, Oliguria ORPHA:727
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Ureteral duplication, Diabetes mellitus, Glycosuria OMIM:600001
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Xerostomia, Retroperitoneal fibrosi... ORPHA:449432
Intellectual Disability-Strabismus Syndrome
Hypospadias, Gait disturbance, Decreased serum insulin-like growth factor 1, Hyperactivity, Micro... ORPHA:363528
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithelial necrosis, ... ORPHA:31826
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
16P12.1P12.3 Triplication Syndrome
Abnormality of the intrahepatic bile duct, Decreased response to growth hormone stimulation test,... ORPHA:485405
Stankiewicz-Isidor Syndrome
Hypospadias, Pineal cyst, Ureteral duplication, Hyperactivity, Micropenis, Cryptorchidism OMIM:617516
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Exocrine pancreatic insufficiency, Cryptorch... OMIM:617052
Infection-Related Hemolytic Uremic Syndrome
Decreased urine output, Anuria, Acute kidney injury, Oliguria, Diabetes mellitus, Nephrotic range... ORPHA:544482
Beckwith-Wiedemann Syndrome
Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropathy, Hypercalci... ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Microphallus OMIM:300486
Legius Syndrome
Dystonia, Ovarian neoplasm, Male urethral meatus stenosis, Nephrolithiasis, Hyperactivity, Acute ... ORPHA:137605
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Shuffling gait, Cholelithiasis, Hyperactivity, Micropenis, Cryptorchidism, Decreased testicular size OMIM:300534
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Primary adrenal insufficiency, Hyperactivity, Inability to walk, Ata... ORPHA:139396
Distal Monosomy 12Q
Hydronephrosis, Unilateral cryptorchidism, Annular pancreas, Maturity-onset diabetes of the young... ORPHA:96149
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Lujo Hemorrhagic Fever
Dysphagia, Microscopic hematuria, Renal insufficiency, Oliguria ORPHA:319213
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Hypospadias, Congenital hypothyroidism, Hypogonad... ORPHA:280651
Nijmegen Breakage Syndrome
B lymphocytopenia, Hydronephrosis, Recurrent urinary tract infections, Hyperactivity, Premature o... OMIM:251260
Seckel Syndrome 1
Pancytopenia, Hyperactivity, Cryptorchidism, Hypospadias OMIM:210600
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Acanthocytosis, Bradykinesia, Hyperactivity, Ataxia, Urinary incontin... OMIM:234200
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pheochromocytoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, St... ORPHA:805
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Hyperactivity, Hyperhidrosis, Broad-based gait, Hypoplasia of penis, Decreased test... ORPHA:85293
Hyperlysinemia
Argininuria, Dysmetria, Cystinuria, Hyperactivity, Tip-toe gait, Hyperlysinuria, Decreased urine ... ORPHA:2203
Sepsis In Premature Infants
Oliguria, Reversible renal failure ORPHA:90051
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Histidinemia
Hyperactivity, Histidinuria ORPHA:2157
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Hepatomegaly, Precocious puberty ORPHA:163681
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Joubert Syndrome 1
Hepatic fibrosis, Renal cyst, Hyperactivity, Ataxia, Nephropathy OMIM:213300
Distal Trisomy 17Q
Renal duplication, Hyperactivity, Accessory spleen, Vesicoureteral reflux, Cryptorchidism ORPHA:3379
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria ORPHA:90038
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia ORPHA:289176
Mucopolysaccharidosis Type 3
Gait disturbance, Hepatomegaly, Mucopolysacchariduria, Loss of ambulation, Splenomegaly, Hyperact... ORPHA:581
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Gait disturbance, Hydronephrosis, Pelvic kidney, Renal cyst, Hyperactivity, Anterior... ORPHA:464306
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Cardiogenic Shock
Oliguria ORPHA:97292
Choreoacanthocytosis
Hepatomegaly, Lingual dystonia, Acanthocytosis, Loss of ambulation, Oromandibular dystonia, Falls... ORPHA:2388
Hereditary Sensory And Autonomic Neuropathy Type 4
Aplasia of the sweat glands, Anemia, Hyperactivity, Hyperhidrosis, Chronic kidney disease, Anhidr... ORPHA:642
Early Infantile Epileptic Encephalopathy
Dystonia, Renal dysplasia, Hyperactivity, Micropenis, Episodic ataxia, Ureterocele, Precocious pu... ORPHA:1934
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Yellow Fever
Anuria, Acute kidney injury, Renal insufficiency ORPHA:99829
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756

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 Afmid

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 Afmid.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Monitoring type 2 diabetes from volatile faecal metabolome in Cushing's syndrome and single Afmid mouse models via a longitudinal study. Scientific reports (December 2019) Afmidtm1b(EUCOMM)Wtsi PMC6906526
Loss of arylformamidase with reduced thymidine kinase expression leads to impaired glucose tolerance. Biology open (October 2015) Afmidtm1a(EUCOMM)Wtsi Afmidtm1b(EUCOMM)Wtsi PMC4728350

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MGI Allele Allele Type Produced
Afmidtm47423(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Afmidem1Llp Intra-exon deletion Mice
Afmidtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Afmidtm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Afmidtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Afmidtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Afmidtm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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