Gene Summary

Name:
RNA binding motif protein, X chromosome
Synonyms:
N/A

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 grip strength Rbmxtm2b(KOMP)Wtsi HEM   Early adult 7.39×10-05
increased grip strength Rbmxtm2b(KOMP)Wtsi HOM   Early adult 4.33×10-07
increased circulating insulin level Rbmxtm2a(KOMP)Wtsi HOM   Early adult 1.93×10-08
decreased circulating calcium level Rbmxtm2b(KOMP)Wtsi HEM   Early adult 1.48×10-10
increased circulating alkaline phosphatase level Rbmxtm2b(KOMP)Wtsi HOM   Early adult 5.49×10-06
increased kidney weight Rbmxtm2b(KOMP)Wtsi HEM   Early adult 1.75×10-05
increased circulating chloride level Rbmxtm2b(KOMP)Wtsi HEM   Early adult 4.44×10-16

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  Section images hemizygote 75% (3 of 4)
Aorta  Section images hemizygote 75% (3 of 4)
Brown adipose tissue  Section images hemizygote 25% (1 of 4)
Cecum  Section images hemizygote 100% (1 of 1)
Colon  Section images hemizygote 100% (1 of 1)
Colon  Section images heterozygote 100% (1 of 1)
Duodenum  Section images hemizygote 100% (1 of 1)
Epididymis  Section images hemizygote 100% (1 of 1)
Esophagus  Section images hemizygote 100% (1 of 1)
Esophagus  Section images heterozygote 100% (1 of 1)
Eye  Section images hemizygote 75% (3 of 4)
Harderian gland  Section images hemizygote 100% (1 of 1)
Ileum  Section images hemizygote 100% (1 of 1)
Ileum  Section images heterozygote 100% (1 of 1)
Kidney  Section images hemizygote 100% (4 of 4)
Kidney  Section images heterozygote 100% (4 of 4)
Lung  Section images hemizygote 75% (3 of 4)
Mesenteric adipose tissue  Section images hemizygote 100% (1 of 1)
Midbrain  Section images hemizygote 100% (1 of 1)
Olfactory lobe  Section images hemizygote 100% (4 of 4)
Ovary  Section images heterozygote 75% (3 of 4)
Oviduct  Section images heterozygote 100% (4 of 4)
Penis  Section images hemizygote 100% (1 of 1)
Prostate gland  Section images hemizygote 25% (1 of 4)
Skin  Section images hemizygote 75% (3 of 4)
Spleen  Section images hemizygote 25% (1 of 4)
Stomach  Section images hemizygote 75% (3 of 4)
Stomach  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images hemizygote 100% (1 of 1)
Testis  Section images hemizygote 100% (4 of 4)
Thymus  Section images hemizygote 50% (2 of 4)
Tongue  Section images hemizygote 100% (1 of 1)
Trachea  Section images hemizygote 75% (3 of 4)
Trigeminal V nerve  Section images hemizygote 100% (1 of 1)
Urinary bladder  Section images hemizygote 100% (1 of 1)
Uterus  Section images heterozygote 75% (3 of 4)
Vas deferens  Section images hemizygote 100% (1 of 1)
Vesicular gland  Section images hemizygote 100% (1 of 1)
Adrenal gland N/A heterozygote 50% (2 of 4)
Aorta N/A heterozygote 25% (1 of 4)
Blood vessel N/A hemizygote 0.0% (0 of 3)
Blood vessel N/A heterozygote 0.0% (0 of 3)
Blood N/A hemizygote Not available
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A hemizygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A hemizygote 66.67% (2 of 3)
Bone N/A heterozygote 33.33% (1 of 3)
Brain N/A hemizygote 75% (3 of 4)
Brain N/A heterozygote 75% (3 of 4)
Brainstem N/A hemizygote 50% (2 of 4)
Brainstem N/A heterozygote 50% (2 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A hemizygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 25% (1 of 4)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A hemizygote 50% (2 of 4)
Cerebellum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A hemizygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Chest bone N/A hemizygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A hemizygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Eye N/A heterozygote 25% (1 of 4)
Gall bladder N/A hemizygote 50% (2 of 4)
Gall bladder N/A heterozygote 25% (1 of 4)
Gonadal fat pad N/A hemizygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote Not available
Heart N/A hemizygote 75% (3 of 4)
Heart N/A heterozygote 75% (3 of 4)
Hindlimb N/A hemizygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A hemizygote 25% (1 of 4)
Hippocampus N/A heterozygote 25% (1 of 4)
Hypothalamus N/A hemizygote 25% (1 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Jejunum N/A hemizygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A hemizygote 25% (1 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A hemizygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A hemizygote 50% (2 of 4)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Lung N/A heterozygote 25% (1 of 4)
Lymph node N/A hemizygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A hemizygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A hemizygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Esophagus N/A hemizygote 66.67% (2 of 3)
Esophagus N/A heterozygote 66.67% (2 of 3)
Olfactory lobe N/A heterozygote 50% (2 of 4)
Ovary N/A hemizygote Not available
Oviduct N/A hemizygote Not available
Pancreas N/A hemizygote 50% (2 of 4)
Pancreas N/A heterozygote 50% (2 of 4)
Parathyroid gland N/A hemizygote 25% (1 of 4)
Parathyroid gland N/A heterozygote 25% (1 of 4)
Parotid gland N/A hemizygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A hemizygote 50% (2 of 4)
Peripheral nervous system N/A heterozygote 25% (1 of 4)
Peyer's patch N/A hemizygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A hemizygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A hemizygote 50% (2 of 4)
Pituitary gland N/A heterozygote 50% (2 of 4)
Prostate gland N/A heterozygote Not available
Quadriceps N/A hemizygote 0.0% (0 of 1)
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A hemizygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle tissue N/A hemizygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A hemizygote Not available
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 25% (1 of 4)
Small intestine N/A hemizygote 25% (1 of 4)
Small intestine N/A heterozygote 25% (1 of 4)
Spinal cord N/A hemizygote 75% (3 of 4)
Spinal cord N/A heterozygote 75% (3 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A hemizygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A hemizygote 25% (1 of 4)
Striatum N/A heterozygote 25% (1 of 4)
Sublingual gland N/A hemizygote 0.0% (0 of 1)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A hemizygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 50% (2 of 4)
Trigeminal V nerve N/A heterozygote Not available
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A hemizygote Not available
Vagina N/A hemizygote Not available
Vagina N/A heterozygote 0.0% (0 of 1)
Vas deferens N/A heterozygote Not available
Vascular system N/A hemizygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A hemizygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
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 584)
aorta 0.17% (1 of 584)
blood 0.0%
blood vessel 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 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.

X-ray

XRay Images Whole Body Lateral Orientation

35 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

33 Images

X-ray

XRay Images Skull Lateral Orientation

34 Images

X-ray

XRay Images Forepaw

33 Images

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

Adult LacZ

LacZ Images Section

64 Images

Eye Morphology

Images Slit Lamp

4 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

Legacy Phenotype Associated Images

View all 133 images

View all 12 images

Human diseases caused by Rbmx mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic 11
OMIM:300238

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Adamantinoma
Hypercalcemia ORPHA:55881
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplen... OMIM:612526
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hypercalcemia, Hematuria ORPHA:284400
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Alpha-Heavy Chain Disease
Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy ORPHA:2668
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium,... OMIM:602522
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Hypercalcemia, Polycystic... OMIM:145001
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia ORPHA:89937
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Nephrolithiasis, Cystinuria OMIM:606407
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Nephrolithiasis OMIM:145980
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Timothy Syndrome
Hypocalcemia, Cardiomegaly OMIM:601005
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Renal insufficiency, Nephropathy ORPHA:1563
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Hyperph... ORPHA:94089
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Oliguria, Hypokal... ORPHA:31824
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:601678
Oculoskeletodental Syndrome
Hypocalcemia, Mucopolysacchariduria, Hepatomegaly, Hypercalciuria, Hypercalcemia, Splenomegaly, R... OMIM:618440
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micropenis, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increased renal tubular c... OMIM:145981
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Abnormal renal resorption, Hypocalcemic tetany, Hypercalciuria, Hypermagnesiuria, H... ORPHA:73224
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:2237
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Renal dysplasia, Hypoalbuminemia, Hyp... OMIM:618183
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased circulating re... ORPHA:89938
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Hepatomegaly, Absence of renal corticomedullary differentiation... OMIM:259720
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hyponatremia, Abnormal blood i... ORPHA:173
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increas... OMIM:600740
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Chronic ki... ORPHA:94059
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Nephrocalcinosis, Hyperphosphatemia ORPHA:428
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Macrosc... ORPHA:251004
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hepatomegaly, Hydronephrosis, Splenomegaly, Micropenis OMIM:235255
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Renal hypophosphatemia, Hypercalcemia, Reduced r... ORPHA:405
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Micropenis, Hypospadias OMIM:607143
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria ORPHA:69077
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Episodic hypokalemia, Hypomagnesemia, Nephrocal... ORPHA:564178
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:241200
Lipodystrophy, Familial Partial, Type 3
Hyperglycemia, Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:604367
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hepatomegaly, Hydronephrosis, Splenomeg... ORPHA:1655
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Hypocalcemia, Splenomegaly OMIM:259700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyponatremia, Elevated circulating creatine kin... ORPHA:94093
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures ORPHA:289157
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Enlarged kidney, Ureteral duplicatio... OMIM:608836
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis ORPHA:2323
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Elevated creatine kinase after exercise, Hypercalcemia, Chronic kidney disea... ORPHA:284426
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Tyrosinemia, Type I
Hypertyrosinemia, Enlarged kidney, Hypophosphatemic rickets, Glomerular sclerosis, Hypermethionin... OMIM:276700
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Renal phosphate wasting OMIM:612089
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Gracile Bone Dysplasia
Hypocalcemia, Micropenis OMIM:602361
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hepatomegaly, Increased circulating free fatty acid level, Elevate... ORPHA:26793
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Calcinosis, Hypercalc... OMIM:239200
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Renal tubular dysfunction, Renal tubular epithelial necrosis, Renal insu... ORPHA:31826
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance ORPHA:363400
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Recurrent urinary tract infections, ... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Membranous nephropathy, Abnormal blood ion concentratio... ORPHA:37042
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Calcino... ORPHA:79444
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Elevated urinary epinephri... ORPHA:94080
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalciuria, Phosphoethanolaminur... OMIM:241500
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia, Precocious pub... OMIM:246200
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Hepatomegaly,... OMIM:232200
Familial Parathyroid Adenoma
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Left ven... ORPHA:99877
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Left ventricular hypertrophy ORPHA:746
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:612462
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Hepatomegaly, Nephrot... OMIM:617303
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Hepatomegaly,... OMIM:232220
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Visceral Steatosis, Congenital
Hypocalcemia, Renal steatosis OMIM:228100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hyperinsulinemia, Hypoglycemia ORPHA:79237
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Focal segmental glomerulosclerosis, Nocturia, Renal potassium wast... ORPHA:358
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:103580
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Calcino... ORPHA:79443
Hypophosphatasia
Hypercalcemia ORPHA:436
Congenital Generalized Lipodystrophy
Precocious puberty in females, Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:528
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Lacticaciduria, Glycosuria, Hepatomegaly, Hypokalemia, Hyperalani... ORPHA:699
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:156400
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
Craniofacioskeletal Syndrome
Hypocalcemia, Hydronephrosis, Hypospadias OMIM:300712
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Hypospadias, Micropenis ORPHA:163979
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Renal insufficiency, Nephrocalcinosis, Nephrolit... ORPHA:99878
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:2457
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hyponatremia, Oliguria, D... ORPHA:544482
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalciuria, Renal hamartoma, Hypercalcemia, Renal cyst, Nephroblastoma, Inf... ORPHA:99880
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Parathyroid Carcinoma
Hypophosphatemia, Hypercalciuria, Renal hamartoma, Hypercalcemia, Renal cyst, Nephroblastoma, Inf... ORPHA:143
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Hypocalcemia, Hepatomegaly ORPHA:175
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Impaired glucose tolerance, Postprandia... ORPHA:769
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Acute kidney injury, Oliguria, Elevated circulating creatine kinase concentration, ... ORPHA:466650
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re... OMIM:208540
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia ORPHA:97289
Hennekam Syndrome
Horseshoe kidney, Hypocalcemia, Ectopic kidney, Splenomegaly ORPHA:2136
Pheochromocytoma
Elevated urinary norepinephrine, Hypercalcemia, Renal artery stenosis, Proteinuria OMIM:171300
Cranioectodermal Dysplasia 1
Hypocalcemia, Hepatomegaly, Tubulointerstitial nephritis, Chronic kidney disease, Renal magnesium... OMIM:218330
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Hyperproteinemia, Nephropathy... ORPHA:29073
H Syndrome
Enlarged kidney, Hypertriglyceridemia, Hepatosplenomegaly, Micropenis, Abnormality of the kidney ORPHA:168569
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Long penis, Hypernatriuria, Hyponatremia, Elevated urinary epinephrine,... ORPHA:90794
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Hypoalbuminemia, Nephrotic syndrome, Urinary... ORPHA:505248
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
22Q11.2 Deletion Syndrome
Hypocalcemia, Multiple renal cysts, Renal hypoplasia, Vesicoureteral reflux, Polycystic kidney dy... ORPHA:567
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Hyponatremia, Oliguria,... ORPHA:731
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Hypospadias ORPHA:280651
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:79086
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Hyperuricemia, Hepatomegaly, ... ORPHA:79259
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Splenomegaly, Hepatomegaly ORPHA:667
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Renal salt wasting, Decreased uri... ORPHA:95409
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance OMIM:613327
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Hepatosplenomegaly, Enlarged kidney ORPHA:464329
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypertriglyceridemia, Hypercalciuria, R... ORPHA:369837
Prader-Willi Syndrome
Hyperinsulinemia, Adrenal insufficiency, Delayed puberty, Type II diabetes mellitus, Hypogonadotr... OMIM:176270
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Mastocytosis
Hepatomegaly, Hypercalcemia, Splenomegaly ORPHA:98292
Digeorge Syndrome
Hypocalcemia, Renal dysplasia, Unilateral renal agenesis, Hydronephrosis OMIM:188400
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Increased circulating renin level, Hepatomegaly, H... ORPHA:508
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Generalized aminoaciduria, Hypocalcemic seizures OMIM:264700
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Enlarged kidney, Congenital megaureter, Visceromegaly, Elevated alpha-fetop... ORPHA:116
Charge Syndrome
Hypocalcemia, Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Renal agenesis, Micropenis OMIM:214800
Monosomy 13Q34
Infantile hypercalcemia, Fetal pyelectasis ORPHA:96168
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia ORPHA:476126
Lipodystrophy, Familial Partial, Type 2
Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:151660
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hypophosphatemic Rickets
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Hypercalciuria, Hype... ORPHA:437
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Renal salt wasting, Hypercalcemia... ORPHA:85138
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine, Elevated urinary epinephrine, Hypercalciuria, Hypercalcemia, Ele... ORPHA:653
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Multicystic kidney dysplasia, Nephroblastoma ORPHA:500095
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Hypocalcemia, Increased VLDL cholesterol concentration, Hydronephrosis, H... OMIM:243800
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadism, Testicul... ORPHA:273
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Abnormality of circulating leptin level, Neoplasm of ... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia OMIM:608594
Vipoma
Hepatomegaly, Hypokalemia, Hypercalcemia ORPHA:97282
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia OMIM:269700
Ppoma
Hepatomegaly, Hypercalcemia ORPHA:97278
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia ORPHA:2126
Somatostatinoma
Hepatomegaly, Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia ORPHA:913
Grfoma
Hepatomegaly, Hypercalcemia ORPHA:97261
Williams Syndrome
Recurrent urinary tract infections, Abnormal circulating lipid concentration, Abnormality of the ... ORPHA:904
Glucagonoma
Hepatomegaly, Hypercalcemia ORPHA:97280
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99413
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99226
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Nephroblastoma, Duplication of renal pelvis, Renal cyst, Splenomeg... OMIM:312870
Williams-Beuren Syndrome
Abnormal renal morphology, Renal hypoplasia, Recurrent urinary tract infections, Enuresis, Bladde... OMIM:194050
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Hypocalcemic seizures, Splenomegaly OMIM:612301
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Hypercalcemia, Nephrolithiasis ORPHA:652
Sarcoidosis
Hepatomegaly, Hypercalciuria, Tubulointerstitial nephritis, Hypercalcemia, Renal insufficiency, N... ORPHA:797
Sotos Syndrome
Renal agenesis, Hypospadias, Ureteropelvic junction obstruction, Vesicoureteral reflux, Hypercalc... ORPHA:821
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadi... ORPHA:64
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Elevated... ORPHA:79318
Intellectual Developmental Disorder, X-Linked, Syndromic 11
OMIM:300238

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 Rbmx

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 Rbmx.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020)