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Gene: Wdr47 MGI:2139593

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Gene Summary

Name:
WD repeat domain 47
Synonyms:
nemitin,  1810073M12Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 4.65×10-05
abnormal skin morphology Wdr47tm1a(EUCOMM)Wtsi HOM   Early adult 2.96×10-05
decreased circulating LDL cholesterol level Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 4.31×10-05
decreased grip strength Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 5.01×10-08
decreased body weight Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 6.33×10-10
absent pinna reflex Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 2.55×10-09
increased blood uric acid level Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 1.73×10-05
abnormal skin pigmentation Wdr47tm1a(EUCOMM)Wtsi HOM   Early adult 3.33×10-05
hyperactivity Wdr47tm1a(EUCOMM)Wtsi HOM   Early adult 6.00×10-06
decreased hemoglobin content Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 6.96×10-05
increased total body fat amount Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 0.000100
limb grasping Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 4.43×10-07
decreased mean corpuscular hemoglobin Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 3.16×10-06
increased circulating sodium level Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 2.74×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
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)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus 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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

Histopathology

Images

26 Images

View images
Legacy Phenotype Associated Images
Wdr47tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 153 images

Wdr47tm1a(EUCOMM)Wtsi
hippocampal commissure, decreased hippocampal commissure size, HOM, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
brain, WT, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
hippocampal commissure, decreased hippocampal commissure size, HOM, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
brain, WT, Male, WTSI
Wdr47tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Wdr47tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Wdr47 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 Wdr47 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia, Choreoathetosis, Self-mutilation OMIM:308950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Leukopenia, Pancytopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia ORPHA:510
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia, ... ORPHA:94093
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Failure to thrive, Recurrent hand flapping... ORPHA:3008
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia OMIM:617056
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto... OMIM:232800
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Agitation, Hyperactivity, Thrombocytopenia, Exaggerated startle r... OMIM:620423
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia OMIM:613092
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal subcuta... OMIM:604367
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Action tremor, Hyperuricemia ORPHA:77296
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Hypernatremia OMIM:304800
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Vitiligo, Hyperuricemia, Hyponatremia, Salt craving, Decrea... ORPHA:95409
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Failure to thrive, Vitiligo, Macrocytic anemia, Hyperuricemia, Hyponatremia, D... ORPHA:199299
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Hyperuricemia ORPHA:261222
Lesch-Nyhan Syndrome
Self-injurious behavior, Hyperuricemia, Opisthotonus, Megaloblastic anemia, Dystonia, Dysphagia, ... OMIM:300322
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Hyperuricemia ORPHA:2801
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia OMIM:261750
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Hypernatremia, Anorexia ORPHA:223
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Hyponatremia, Weight loss, Anorexia ORPHA:178029
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Hyperuricemia ORPHA:543
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Addison Disease
Normocytic anemia, Failure to thrive, Vitiligo, Thiamine-responsive megaloblastic anemia, Hyperur... ORPHA:85138
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Intention tremor OMIM:610539
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperammonemia, Oral aversion, Hyperuricemia, Weight loss, Anorexia... ORPHA:134
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Splenomegaly, Hyperuricemia, Loss of subcutaneous adipose tissue i... ORPHA:79083
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Abnormal fear-induced behavior, Abnormal circulating porphyrin concent... ORPHA:100924
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:3222
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticoste... ORPHA:556037
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:203400
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticoste... ORPHA:556030
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Tremor, Splenomegaly, ... OMIM:613179
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Webb-Dattani Syndrome
Obesity, Hypernatremia OMIM:615926
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Thrombocytosis, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Anorexia, A... ORPHA:20
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia ORPHA:79233
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Abnormality of skin pigmentation OMIM:240200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Alg8-Cdg
Failure to thrive, Abnormality of subcutaneous fat tissue, Hyponatremia, Camptodactyly, Thrombocy... ORPHA:79325
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Macular scar OMIM:239000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Hypertriglyceridemia OMIM:615924
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Hyponatremia... ORPHA:171876
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology... ORPHA:760
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Failure to thrive OMIM:264350
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia ORPHA:163921
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia OMIM:246450
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... OMIM:619381
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Phenylketonuria
Fair hair, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Matern... OMIM:261600
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ... ORPHA:1930
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia, Lymphoc... ORPHA:1667
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia OMIM:603592
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation OMIM:237450
Porphyria Variegata
Hypopigmentation of the skin, Abnormal circulating porphyrin concentration, Hyponatremia, Scarrin... ORPHA:79473
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Failure to thrive OMIM:614736
Whipple Disease
Polydipsia, Generalized hyperpigmentation, Splenomegaly, Hyponatremia, Cachexia, Anorexia, Anemia ORPHA:3452
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, Hypopigmentatio... ORPHA:167
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hyperpigmentation of the skin, Failure to thrive OMIM:300200
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circul... OMIM:214700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur... ORPHA:682
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Alstrom Syndrome
Pigmentary retinopathy, Decreased HDL cholesterol concentration, Obesity, Hyperuricemia, Truncal ... OMIM:203800
Familial Glucocorticoid Deficiency
Failure to thrive, Generalized hyperpigmentation, Hyponatremia, Decreased circulating cortisol le... ORPHA:361
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... ORPHA:247353
Cystinuria
Hyperuricemia ORPHA:214
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hyperactivity, Motor stereotyp... OMIM:610883
Renal Hypoplasia, Bilateral
Failure to thrive, Hyponatremia, Anemia, Hyperkalemia, Small for gestational age ORPHA:97362
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia, Anemia, Hyperkale... OMIM:617053
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyc... ORPHA:79259
Hereditary Coproporphyria
Hyponatremia, Atypical scarring of skin, Abnormal circulating porphyrin concentration ORPHA:79273
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Premature graying of hair, Reduced subcutaneous adipose... ORPHA:1979
Fanconi-Bickel Syndrome
Hypouricemia, Failure to thrive, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increas... OMIM:227810
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, F... OMIM:248250
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Neutropenia OMIM:232220
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411543
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hyperpigmentation of the s... ORPHA:90791
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia, Small for gestational age ORPHA:621
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:427
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Abnormality of skin pigmentation, ... ORPHA:79402
Legionnaires Disease
Cellulitis, Lymphopenia, Splenomegaly, Hyponatremia, Anorexia ORPHA:549
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Failure to thrive, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Hyponatremia, Ca... ORPHA:275761
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Small for gestational age ORPHA:391673
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Wilson Disease
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hand tremor, Decreased circulating ceruloplasmi... OMIM:277900
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Cockayne Syndrome
Pigmentary retinopathy, Congenital contracture, Contractures of the large joints, Splenomegaly, A... ORPHA:191
Phosphoribosylpyrophosphate Synthetase Superactivity
Small for gestational age, Hyperuricemia OMIM:300661
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Abnormal erythrocyte enzyme concentration or activity ORPHA:1187
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Failure to thrive, Elevated circulating creatinine concentration, Hypoc... ORPHA:411634
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hyperpigmentation of the s... ORPHA:90790
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lympho... ORPHA:79324
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Hypophosphatemia OMIM:616026
Shigellosis
Microangiopathic hemolytic anemia, Failure to thrive in infancy, Leukocytosis, Hyponatremia, Sple... ORPHA:810
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Japanese Encephalitis
Neutrophilia, Pill-rolling tremor, Elbow flexion contracture, Tremor, Hyponatremia, Opisthotonus,... ORPHA:79139
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Polydipsia, Failure to thrive, Retinal pigm... OMIM:219800
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Elbow flexion contracture, Abnormality of hair... OMIM:618156
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy OMIM:608776
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Abnormal eat... ORPHA:247585
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Glycogen Storage Disease Ic
Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Molybdenum Cofactor Deficiency, Type C
Hypouricemia, Hypertaurinemia, Hypocystinemia OMIM:615501
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abe... ORPHA:96180
Fructose Intolerance, Hereditary
Failure to thrive, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Dystonia OMIM:610505
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Xanthinuria, Type I
Hypouricemia, Hyperxanthinemia OMIM:278300
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Polydipsia, Normochromic anemia ORPHA:95513
Infant Botulism
Hyponatremia, Dysphagia, Anorexia ORPHA:178478
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Generalized hyperpigmentation,... ORPHA:168558
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal... ORPHA:534
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Generalized hyperpigmentation,... ORPHA:289548
Hartsfield Syndrome
Hypernatremia OMIM:615465
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia OMIM:620155
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Acanthocytosis, Failure to thrive ORPHA:71
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia ORPHA:95512
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Hyperaldosteronism, Increased circulating renin level, Hypokal... ORPHA:89938
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Hyperuricemia ORPHA:93111
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Hyponatremia, Decreased circulating cortisol l... ORPHA:293978
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Tremor, Methemoglobinemia OMIM:250800
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... ORPHA:2457
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Tremor, Pseudobulbar paralysis ORPHA:79276
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th... OMIM:266510
Dihydropyrimidinase Deficiency
Failure to thrive, Elevated circulating thymine concentration, Elevated circulating creatine kina... OMIM:222748
X-Linked Creatine Transporter Deficiency
Self-mutilation, Cachexia, Hyperactivity, Abnormal circulating creatine concentration, Dystonia, ... ORPHA:52503
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Normochromic anemia ORPHA:95613
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, H... OMIM:602522
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Obesity, Normochromic anemia ORPHA:91355
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Free Sialic Acid Storage Disease
Iris hypopigmentation, Failure to thrive in infancy, Splenomegaly, Abnormality of skin pigmentati... ORPHA:834
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Tremor, Abnormal subcutaneous fat tissue... OMIM:212065
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Splenomegaly, Cachexia, Abnormality of skin pigmentation, Anorexia... ORPHA:2930
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Hyperlipidemia, Splenomegaly, Abnormality of skin pigmentation ORPHA:1414
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Opisthotonus OMIM:252160
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Failure to thrive OMIM:618252
Bone Marrow Failure Syndrome 3
Aplastic anemia, Failure to thrive, Increased mean corpuscular volume, Persistence of hemoglobin ... OMIM:617052
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Opisthotonus OMIM:252150
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal circulating neo... OMIM:612716
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Abnormality of skin pigmentation ORPHA:457260
Holoprosencephaly
Failure to thrive in infancy, Abnormality of the spleen, Congenital diaphragmatic hernia, Hyponat... ORPHA:2162
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive ORPHA:98791
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Abnormality of... ORPHA:220402
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age OMIM:616943
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Dysphagia, Failure to thrive, Abnormality of skin pigmentation OMIM:612379
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Leukopenia, Hy... OMIM:619991
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Familial Dysautonomia
Heterochromia iridis, Hyponatremia ORPHA:1764
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia ORPHA:544482
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Obesity, Hyperlipidemia, Hyponatremia, Polyphagia, Aggressiv... ORPHA:293987
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia, Failure to thrive OMIM:618426
Legius Syndrome
Inguinal freckling, Acute monocytic leukemia, Xanthelasma, Attention deficit hyperactivity disord... ORPHA:137605
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F OMIM:619769
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... OMIM:260400
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentrat... ORPHA:731
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Argininemia
Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Reduced erythrocyte arginase activity OMIM:207800
Choreoacanthocytosis
Resting tremor, Limb dystonia, Acanthocytosis, Hair-pulling, Weight loss, Lingual dystonia, Dysph... ORPHA:2388
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Weight loss, Hyperkalemia,... ORPHA:90794
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Abnormality of ... OMIM:227650
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia ORPHA:31150
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Pigmentary retinopathy, Acanthocytosis, Obsessive-compulsive trait, T... OMIM:234200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation ORPHA:424
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia ORPHA:99867
Dubowitz Syndrome
Aplastic anemia, Hypocholesterolemia, Inguinal hernia, Hyperactivity, Acute lymphoblastic leukemia OMIM:223370
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Dyskeratosis Congenita, Digenic
Anemia, Dysphagia, Failure to thrive, Abnormality of skin pigmentation OMIM:620040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym... ORPHA:90363
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Decreased circulating renin level, Hyponatremia, Decreased circula... OMIM:201750
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia, Decreased body weight, Torticollis, Tics, Motor stereotypy, Hypopigmentation ... OMIM:619475
Familial Gestational Hyperthyroidism
Agitation, Weight loss, Hyperactivity, Hand tremor ORPHA:99819
Fanconi Anemia, Complementation Group D2
Pancytopenia, Attention deficit hyperactivity disorder, Reticulocytopenia, Anemia, Neutropenia, T... OMIM:227646
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Umbilical hernia, Hypochromic microcytic anemia, Reduced alpha/beta synthesis rat... OMIM:301040
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Gaucher Disease
Splenic infarction, Arthrogryposis multiplex congenita, Decreased HDL cholesterol concentration, ... ORPHA:355
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Abnormality of skin pigmentation OMIM:613988
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Self-mutilation, Elevated ... OMIM:270400
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Alkaptonuria
Methemoglobinemia, Irregular hyperpigmentation, Hemolytic anemia, Abnormality of skin pigmentation ORPHA:56
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormalit... ORPHA:2908

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.

Phenotype Allele Zygosity Sex Life Stage
Urinary bladder - process of degenerative change Wdr47tm1a(EUCOMM)Wtsi HOM Early adult

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 Wdr47.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Wdr47, Camsaps, and Katanin cooperate to generate ciliary central microtubules. Nature communications (October 2021) Wdr47tm1a(EUCOMM)Wtsi PMC8490363
Wdr47 Controls Neuronal Polarization through the Camsap Family Microtubule Minus-End-Binding Proteins. Cell reports (April 2020) Wdr47tm1c(EUCOMM)Wtsi Wdr47tm1a(EUCOMM)Wtsi 32320668
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Wdr47tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)