Gene Summary

Name:
phosphatidylinositol transfer protein, membrane-associated 1
Synonyms:
DRES9,  RdgB

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
decreased total body fat amount Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 1.77×10-12
decreased circulating calcium level Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 6.03×10-09
decreased circulating potassium level Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 3.29×10-05
decreased circulating HDL cholesterol level Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 9.50×10-05
decreased body weight Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 4.73×10-06

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
Adrenal gland N/A heterozygote 0.0% (0 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 0.0% (0 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 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 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 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 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)
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)
blood vessel 0.0%
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)
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%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
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)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 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%
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.

Legacy Phenotype Associated Images

View all 59 images

Human diseases caused by Pitpnm1 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 Pitpnm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Hypercholesterolem... OMIM:612526
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia, Hearing i... OMIM:619658
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Alpha-Heavy Chain Disease
Splenomegaly, Anemia, Hypocalcemia ORPHA:100025
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia OMIM:218030
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... ORPHA:398063
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia, Anemia ORPHA:2668
Albers-Sch├Ânberg Osteopetrosis
Optic atrophy, Facial palsy, Anemia, Hearing impairment, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating corticosterone level, Increa... OMIM:610600
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia OMIM:613239
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Hypomagnesemia 2, Renal
Hypomagnesemia, Chondrocalcinosis, Hypokalemia OMIM:154020
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia OMIM:188580
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Cachexia, Hypokalemia, Hypocalcemia OMIM:175500
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenom... OMIM:259720
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia OMIM:602722
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypervitaminosis A, Susceptibility To
Papilledema, Hypercalcemia OMIM:240150
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial palsy, Anemia, Hearing impairment, Splenomegaly, Facial paralysis, Hypocalc... OMIM:259700
Oculocerebrodental Syndrome
Conductive hearing impairment, Hypercalcemia, Hearing impairment, Sensorineural hearing impairmen... ORPHA:557003
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Cellulitis, Hypocalcemia ORPHA:47
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive OMIM:616834
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperaldosteronism OMIM:214700
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Hyperphosphatemia ORPHA:94089
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Increased body weight ORPHA:94086
Liddle Syndrome
Hypokalemia ORPHA:526
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Fanconi-Bickel Syndrome
Hypouricemia, Hypokalemia, Failure to thrive, Hypophosphatemia, Reduced subcutaneous adipose tissue OMIM:227810
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:614736
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Anemia, Hypomagnesemia, Reduced proportion of CD4+ effector mem... ORPHA:90362
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia ORPHA:93160
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Failure to thrive, Abnormal circulat... ORPHA:556037
Timothy Syndrome
Hypocalcemia OMIM:601005
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:99879
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Elbow flexion contracture, Hypocalcemia OMIM:618440
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Hypocalcemia OMIM:607143
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas OMIM:145981
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Anemia, Thrombocytopenia ORPHA:2123
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia ORPHA:35710
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:203400
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Hypocholesterolemia, Steatorrhea OMIM:266510
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... ORPHA:26793
Squalene Synthase Deficiency
Hypocholesterolemia, Optic nerve hypoplasia, Increased circulating farnesol concentration, Macrot... OMIM:618156
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia OMIM:611590
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Failure to thrive, Abnormal circulat... ORPHA:556030
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Failure to thrive, Hypophosphatemia, Enamel hypoplasia, Hypocalcemia ORPHA:289157
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Failure to thrive, Hyperaldosteronism, Increased circulating renin level OMIM:177735
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Infantile hypercalcemia OMIM:143880
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Failure to thrive OMIM:264350
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy ORPHA:436
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Abnormality of circulating cortisol level, ... ORPHA:320
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Small for gestational age, Hypocalcemia OMIM:127000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia OMIM:618476
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529808
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529799
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... ORPHA:411634
Potocki-Lupski Syndrome
Hypocholesterolemia, EEG abnormality, Hearing impairment OMIM:610883
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Flex... ORPHA:682
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Hypokalemia OMIM:613677
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:404
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia ORPHA:403
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss, Enamel hypoplasia, Steatorrhea, Hypocalcemia OMIM:212750
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Splenomegaly OMIM:607765
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... ORPHA:79444
Adrenocortical Carcinoma
Hypokalemia, Elevated serum 11-deoxycortisol, Increased circulating cortisol level, Weight loss, ... ORPHA:1501
Pseudohypoparathyroidism, Type Ia
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Acanthocy... ORPHA:96180
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular areflexia, Increas... ORPHA:3240
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... ORPHA:405
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... ORPHA:36234
Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia ORPHA:213
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas OMIM:600740
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Inguinal hernia, Hypocalcemia OMIM:235255
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Acanthocytosis ORPHA:71
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism ORPHA:199343
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia ORPHA:73224
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Glucocortocoid-insensitive... ORPHA:171876
Familial Hyperaldosteronism Type Iii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Optic atrophy, Leukopenia, Elevated circulating creatine kinase co... ORPHA:2785
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Glucocortocoid-insensitive primary hyperaldosteronism, Hypo... ORPHA:231625
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Optic atrophy, Hyperphosphatemia, Hypocalcemia ORPHA:428
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Pearson Syndrome
Neutropenia, Hypokalemia, Hypophosphatemia, Anemia, Hearing impairment, Hypomagnesemia, Hyperalan... ORPHA:699
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... ORPHA:79443
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level, Weight loss ORPHA:97289
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostag... OMIM:601678
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Inguinal hernia, Hypocalcemia ORPHA:1655
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Infantile Myofibromatosis
Hypercalcemia, Chondrocalcinosis ORPHA:2591
Tangier Disease
Facial diplegia, Hypocholesterolemia, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocy... ORPHA:31150
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss, Increased serum bile acid concentration, Hypokalemia OMIM:619377
Hypophosphatasia, Infantile
Failure to thrive, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Neutropenia, Macrotia, Low-set, posteriorly rotated ears, Anemia, EEG abno... ORPHA:175
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Increased circulating renin level OMIM:263800
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Primary hyperaldosteronism, Failure to thrive, Hypomagnesemia, Hy... ORPHA:358
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Obesity ORPHA:251004
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism OMIM:612780
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Posteriorly rotated ears, Hypocalcemia, Thrombocytopenia, Microtia ORPHA:163979
Velocardiofacial Syndrome
Inguinal hernia, Umbilical hernia, Hypocalcemia OMIM:192430
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hyperaldosteronism ORPHA:369929
Pituitary Adenoma 4, Acth-Secreting
Obesity, Abdominal obesity, Hypokalemia OMIM:219090
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Brain abscess, Leukocytosis, Hypocalcemia, Thrombocytopenia, Hemolyti... ORPHA:544482
Bartter Syndrome, Type 3
Hyperchloriduria, Increased circulating renin level, Hyperaldosteronism, Hypokalemia OMIM:607364
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Thrombocytosis, Macrotia, Hypoalbuminemia OMIM:212065
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Small for gestational age, Failure to thrive, Hypochloremia, Hypomagne... ORPHA:89938
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failure to thrive, S... OMIM:613658
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Progressive sensorineural hearing impairment, Hypocalcemia ORPHA:2237
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Abnormal circulatin... ORPHA:14
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia, Hip contracture, Knee flexion contracture OMIM:156400
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... ORPHA:95409
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypocholesterolemia, Abnormality of the pinna, Sensorineural hea... ORPHA:79324
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Weight loss, Hypophosphatemia, Hyperuricosuria, Decreased plasma carni... ORPHA:3337
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Hypophosphatemia, Anemia, Splenomegaly, Hearing impairment, Hypocalcemia ORPHA:667
Vipoma
Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Weight loss, Subcutaneous lipoma ORPHA:97282
Infantile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Mastocytosis
Hypercalcemia, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Weight loss, Mildly elevated creatine kinase, Hypomagnesemia,... ORPHA:79102
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Failure to thrive, Weight loss, Hyperuricemia, Decreased circulating... ORPHA:199299
Hennekam Syndrome
Conductive hearing impairment, Splenomegaly, Lymphopenia, Hypocalcemia ORPHA:2136
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostaglandin E2, Fail... OMIM:241200
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive ORPHA:427
Mercury Poisoning
Hypokalemia ORPHA:330021
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Hypokalemia OMIM:170390
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Enamel hypoplasia, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Acrodysostosis With Multiple Hormone Resistance
Obesity, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Enamel hypoplasia, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Failure to thrive, Increased circulating corticos... ORPHA:90793
Parathyroid Carcinoma
Hypercalcemia, Chondrocalcinosis, Weight loss, Hypophosphatemia, Infantile hypercalcemia, Lipoma ORPHA:143
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Thymic Aplasia
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Apl... ORPHA:83471
22Q11.2 Deletion Syndrome
Conductive hearing impairment, Optic atrophy, Aganglionic megacolon, Overfolded helix, Hypoplasia... ORPHA:567
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Anemia, Papilledema, Hyperphosphatemia ORPHA:93325
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Hypocalcemia OMIM:218330
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Weight loss, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... ORPHA:85138
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level, Weight loss, Lipoma, Multiple lipomas ORPHA:913
Digeorge Syndrome
Umbilical hernia, Hypocalcemia, Obesity, Inguinal hernia, Femoral hernia OMIM:188400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Ppoma
Hypercalcemia, Increased circulating cortisol level, Weight loss, Subcutaneous lipoma ORPHA:97278
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma OMIM:131100
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss ORPHA:29073
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Optic disc pallor, Abnormality of the pinna OMIM:244450
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level ORPHA:90795
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Somatostatinoma
Hypercalcemia, Increased circulating cortisol level, Weight loss, Steatorrhea, Subcutaneous lipoma ORPHA:97283
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hypokalemia OMIM:202010
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Rabson-Mendenhall Syndrome
Increased C-peptide level, Reduced subcutaneous adipose tissue, Hypokalemia ORPHA:769
Cockayne Syndrome Type 1
Optic atrophy, Macrotia, Absent brainstem auditory responses, Anemia, Hearing impairment, Increas... ORPHA:90321
Monosomy 13Q34
Obesity, Infantile hypercalcemia ORPHA:96168
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Weight loss, Decreased circulating cortisol level ORPHA:361
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Lipoma ORPHA:99880
Leprechaunism
Hypokalemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperaldosteronism, Increase... ORPHA:508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hearing impairment, Multifocal epileptiform discharges, Hypertriglyceridemia, EEG ... ORPHA:369837
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol level ORPHA:90790
Proximal Renal Tubular Acidosis
Hypokalemia, Failure to thrive, Enamel hypomineralization, Hyperuricosuria, Bicarbonaturia ORPHA:47159
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Grfoma
Hypercalcemia, Increased circulating cortisol level, Weight loss, Subcutaneous lipoma ORPHA:97261
Glucagonoma
Hypercalcemia, Increased circulating cortisol level, Weight loss, Steatorrhea, Subcutaneous lipoma ORPHA:97280
Nelson Syndrome
Increased circulating cortisol level, Secondary hypercortisolism, Hypokalemia ORPHA:199244
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Failure to thrive, Hypophosphatemia, Abnormal dental enamel morphology... ORPHA:534
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... OMIM:619503
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Pheochromocytoma
Hypercalcemia OMIM:171300
Distal Renal Tubular Acidosis
Failure to thrive, Hypokalemia ORPHA:18
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level, Decreased circu... ORPHA:90791
Generalized Glucocorticoid Resistance Syndrome
Increased circulating cortisol level, Hypokalemia ORPHA:786
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Hepatosplen... ORPHA:79330
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Small for gestational age, Hypertriglyceri... OMIM:619573
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Hearing impairment ORPHA:249
Hypophosphatemic Rickets
Hypercalcemia, Failure to thrive, Hypophosphatemia, Odontodysplasia, Enthesitis ORPHA:437
Charge Syndrome
Facial palsy, Hypocalcemia, Sensorineural hearing impairment, Mixed hearing impairment, Lymphopen... OMIM:214800
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Posteriorly rotated ea... OMIM:270400
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Xanth... ORPHA:275761
Johanson-Blizzard Syndrome
Failure to thrive, Increased VLDL cholesterol concentration, Small for gestational age, Hypocalcemia OMIM:243800
Mirage Syndrome
Hyperkalemia, Hyponatremia, Decreased body weight OMIM:617053
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol ORPHA:401973
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia, Splenomegaly OMIM:612301
Tsh-Secreting Pituitary Adenoma
Weight loss, Hypokalemia ORPHA:91347
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma ORPHA:276152
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Failure to thrive, In... ORPHA:168558
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Failure to thrive, In... ORPHA:289548
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Increased circulating cortisol level, Weight loss, Multi... ORPHA:652
Sarcoidosis
Hypercalcemia, Leukopenia, Increased T cell count, Facial palsy, Anemia, Thrombocytopenia, Eosino... ORPHA:797
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Decreased body weight, Hyperphosphat... ORPHA:340
Williams Syndrome
Hypercalcemia, Failure to thrive in infancy, Abnormal circulating lipid concentration, Elevated c... ORPHA:904
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Hypochloremia, Weight loss, Decreased circulating ... ORPHA:90794
Williams-Beuren Syndrome
Hypercalcemia, Failure to thrive in infancy, Inguinal hernia, Flexion contracture, Obesity, Umbil... OMIM:194050
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Cigarette-paper scars, Inguinal hernia, Uterine prolapse, Cystocele, Umbilical hernia ORPHA:286
Sotos Syndrome
Hypercalcemia, Ankle flexion contracture, Bilateral camptodactyly, Hip contracture, Inguinal hern... ORPHA:821

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 Pitpnm1

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 Pitpnm1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pitpnm1tm1a(EUCOMM)Wtsi