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Gene: Pitpnm1 MGI:1197524

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 1.77×10-12
decreased circulating glucose level Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 8.41×10-05
decreased body weight Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 4.73×10-06
decreased circulating calcium level Pitpnm1tm1a(EUCOMM)Wtsi HOM Early adult 1.62×10-09
decreased circulating potassium level Pitpnm1tm1a(EUCOMM)Wtsi HOM   Early adult 2.56×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Pitpnm1tm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Pitpnm1tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Pitpnm1tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pitpnm1tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Pitpnm1tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 59 images

Pitpnm1tm1a(EUCOMM)Wtsi
eye, abnormal retinal blood vessel pattern, HOM, Male, WTSI
Pitpnm1tm1a(EUCOMM)Wtsi
eye, abnormal retinal blood vessel morphology, HOM, Male, WTSI

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
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue,... OMIM:612526
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia, Failure to thrive ORPHA:163693
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc... OMIM:619658
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive ORPHA:172
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, Increased body wei... ORPHA:94086
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Adamantinoma
Hypercalcemia ORPHA:55881
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased body weight ORPHA:314811
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia, Failure to thrive OMIM:606407
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Apparent Mineralocorticoid Excess
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level OMIM:218030
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Sensorineural hearing impairment ORPHA:2668
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Albers-Schönberg Osteopetrosis
Optic atrophy, Hearing impairment, Hypocalcemia, Abnormal leukocyte morphology, Anemia, Facial palsy ORPHA:53
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia OMIM:612462
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Diarrhea 13
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
X-Linked Agammaglobulinemia
Hypocalcemia, Sensorineural hearing impairment, Thrombocytopenia, Neutropenia, Anemia, Chronic ot... ORPHA:47
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural hearing impairment... ORPHA:557003
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Hearing impairment, Pancytopenia, Splenomegaly, Hypocalcemia, Th... OMIM:259700
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration ORPHA:446
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive OMIM:602722
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Hyperammonemia, H... ORPHA:26793
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia, Hypocalcemic seizures ORPHA:94089
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:264700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia OMIM:614736
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Liddle Syndrome
Hypokalemia ORPHA:526
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... OMIM:600501
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Oculoskeletodental Syndrome
Elbow flexion contracture, Small for gestational age, Hypercalcemia, Hypocalcemia OMIM:618440
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morphology ORPHA:93160
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria, Hyperbilirubinemia, Redu... OMIM:227810
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Extramedullary hematopoiesis, Pancytopenia,... OMIM:259720
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Small for gestational age, Hypocalcemia, Failure to thrive OMIM:607143
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Potocki-Lupski Syndrome
EEG abnormality, Hypocholesterolemia, Hearing impairment OMIM:610883
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Gracile Bone Dysplasia
Hypocalcemia, Failure to thrive OMIM:602361
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Multiple lipomas, Chondrocalcinosis, Hypercalcemia OMIM:145981
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Posteriorly rotated ears OMIM:241410
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Squalene Synthase Deficiency
Low-set ears, Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating ... OMIM:618156
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Juvenile Nephropathic Cystinosis
Hypouricemia, Failure to thrive, Glycosuria, Elevated circulating creatinine concentration, Hypoc... ORPHA:411634
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:610600
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Sensorineural... OMIM:266510
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:203400
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive OMIM:611590
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Failure to thrive, Hypocalcemia, Weight loss, Enamel hypoplasia OMIM:212750
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Cystinosis
Hypokalemia, Type I diabetes mellitus, Hypophosphatemia, Failure to thrive ORPHA:213
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures ORPHA:289157
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Low-set ears, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur... ORPHA:682
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Hypophosphatemia, Hypercalcemia ORPHA:99879
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased circulating... ORPHA:37042
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Low-set ears, Splenomegaly OMIM:608776
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... ORPHA:3240
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Double Outlet Right Ventricle
Hypocalcemia, Failure to thrive ORPHA:3426
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Reduced circulating cortisol-binding globulin concentration OMIM:611489
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Elevated c... ORPHA:36234
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... OMIM:231100
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:177735
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipopro... ORPHA:96180
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp... ORPHA:79444
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Failure to thri... ORPHA:358
Pituitary Adenoma 4, Acth-Secreting
Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity, Impaired glucose tolerance OMIM:219090
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Hyperkalemia ORPHA:757
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:264350
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Obesity, Hyperphosphatemia, Enamel hypoplasia OMIM:103580
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Apparent Mineralocorticoid Excess
Hypokalemia, Failure to thrive, Decreased circulating renin level ORPHA:320
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Non-Functioning Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression ORPHA:94080
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Hypercalcemia OMIM:614732
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia OMIM:618476
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypoproteinemia ORPHA:1655
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:556030
Adrenocortical Carcinoma
Hypokalemia, Increased body weight, Weight loss, Diabetes mellitus ORPHA:1501
Pearson Syndrome
Hearing impairment, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hy... ORPHA:699
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Slender build, Inguinal hernia, Hypocalcemia, U... OMIM:613658
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp... ORPHA:79443
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Conductive hearing impairment, Cranial nerve compression, Pancytopenia, Leukopenia... ORPHA:2785
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Hypocalcemia, Aganglionic megacolon, EEG abnormality, Neutrope... ORPHA:175
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Weight lo... ORPHA:199299
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc... ORPHA:405
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Obesity, Weight loss, Transient... ORPHA:79102
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... ORPHA:3337
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th... OMIM:248250
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Thrombocytopenia, Hypertriglyceridemia,... ORPHA:31150
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni... ORPHA:171876
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Juvenile Polyposis Syndrome
Hypoalbuminemia, Failure to thrive, Hypokalemia OMIM:174900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Diabetes mel... OMIM:616026
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia ORPHA:2237
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Splenomegaly, Hypocalcemia, Otitis media, Hypophosph... ORPHA:667
Osteootohepatoenteric Syndrome
Hypokalemia, Weight loss, Failure to thrive, Increased serum bile acid concentration OMIM:619377
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Acute Adrenal Insufficiency
Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hypercal... ORPHA:95409
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Failure to thrive OMIM:241500
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia ORPHA:2591
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Failure to thrive, Calcinosis OMIM:239200
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperinsulinemia, Reduced subc... ORPHA:508
Infantile Nephropathic Cystinosis
Failure to thrive, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalcinosis, Small for gestational age,... OMIM:601678
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia, Anemia, Posteriorly rotated ears, Microtia ORPHA:163979
Velocardiofacial Syndrome
Inguinal hernia, Hypocalcemia, Umbilical hernia OMIM:192430
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, Lymphopenia, Hypocalcemia, Splenomegaly, Abnormal pi... ORPHA:2136
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Sensorineural hearing impairment, Hyponatremia, Thrombocyto... ORPHA:79324
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia ORPHA:97289
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolyti... ORPHA:544482
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis, Enamel hypoplasia OMIM:211900
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Gitelman Syndrome
Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Steatorrhea, Macrotia OMIM:212065
Bartter Syndrome Type 4
Small for gestational age, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyponatremia, Severe f... ORPHA:89938
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Spinal Cord Injury
Hypercalcemia, Abnormal autonomic nervous system physiology ORPHA:90058
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... ORPHA:83471
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Subcutaneous lipoma OMIM:131100
Familial Glucocorticoid Deficiency
Failure to thrive, Hyponatremia, Ketotic hypoglycemia, Weight loss, Hypoglycemic seizures, Hyperk... ORPHA:361
Vipoma
Subcutaneous lipoma, Hypokalemia, Weight loss, Hypercalcemia, Diabetes mellitus ORPHA:97282
Addison Disease
Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Weight lo... ORPHA:85138
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulat... OMIM:617049
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hip contracture, Knee flexion contracture OMIM:156400
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Mercury Poisoning
Hypokalemia ORPHA:330021
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Failure to thrive, Glycosuria, Hypomagnesemia, Fai... OMIM:219800
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Recurrent otitis media, Leukopenia, Hyperbilirubine... OMIM:619991
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Renal Hypoplasia, Bilateral
Glycosuria, Failure to thrive, Hyponatremia, Hyperkalemia, Small for gestational age ORPHA:97362
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Bilateral conductive hearing impairment OMIM:602080
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
22Q11.2 Deletion Syndrome
Low-set ears, Optic atrophy, Small earlobe, Conductive hearing impairment, Hearing impairment, Hy... ORPHA:567
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Dubowitz Syndrome
Low-set ears, Aplastic anemia, Hypocholesterolemia, Otitis media, Protruding ear, Acute lymphobla... OMIM:223370
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Anemia, Hypocalcemic seizures ORPHA:93325
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia ORPHA:90790
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:427
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Hypocholesterolemia, Optic disc pallor, Abnormal pinna morphology OMIM:244450
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalcinosis, Small for gestational age,... OMIM:241200
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Cranioectodermal Dysplasia 1
Inguinal hernia, Enamel hypoplasia, Hypocalcemia OMIM:218330
Zollinger-Ellison Syndrome
Multiple lipomas, Weight loss, Lipoma, Hypercalcemia, Increased glucagon level ORPHA:913
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Enamel hypoplasia, Failure to thrive OMIM:277440
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased body weight OMIM:617053
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Failure to thrive ORPHA:476126
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Hypoglycemia ORPHA:786
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia, Failure to thrive OMIM:618426
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin... ORPHA:90791
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Hypercalcemia ORPHA:29073
Parathyroid Carcinoma
Chondrocalcinosis, Hypophosphatemia, Weight loss, Lipoma, Hypercalcemia ORPHA:143
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Elbow flexion contracture, Hypocalcemia, Knee flexion contract... OMIM:619503
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Failure to thrive, Decreased circulating renin level ORPHA:90793
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hearing impairment, EEG with generalized sharp slow waves, EEG with spike-wave comp... ORPHA:369837
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Proximal Renal Tubular Acidosis
Glycosuria, Failure to thrive, Enamel hypomineralization, Hypokalemia, Bicarbonaturia ORPHA:47159
Somatostatinoma
Weight loss, Hypercalcemia, Subcutaneous lipoma, Diabetes mellitus ORPHA:97283
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Enamel hypoplasia OMIM:170390
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression ORPHA:29072
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Birk-Landau-Perez Syndrome
Failure to thrive in infancy, Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Nelson Syndrome
Hypokalemia, Type II diabetes mellitus ORPHA:199244
Glucagonoma
Weight loss, Hypercalcemia, Subcutaneous lipoma, Diabetes mellitus ORPHA:97280
Ppoma
Weight loss, Hypercalcemia, Subcutaneous lipoma ORPHA:97278
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Diabetes mellitus ORPHA:249
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology... ORPHA:534
Digeorge Syndrome
Umbilical hernia, Obesity, Inguinal hernia, Hypocalcemia, Femoral hernia OMIM:188400
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Low-set ears, Hearing impairment, Recurrent otitis media, Hypocholesterolemia, E... OMIM:270400
Pheochromocytoma
Hypercalcemia OMIM:171300
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Protruding ear, Posteriorly rotated ears, Hypocalcemia, Optic nerve hypoplasia OMIM:620330
Charge Syndrome
Low-set ears, Cupped ear, Lymphopenia, Aplasia of the semicircular canal, Hypocalcemia, Sensorine... OMIM:214800
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypercalcemia, Incr... ORPHA:276152
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Chondrocalcinosis, Hypophosphatemia, Hypercalcemia ORPHA:99880
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Scorpion Envenomation
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... ORPHA:466677
Mend Syndrome
Low-set ears, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal auditory evoked ... ORPHA:401973
Distal Renal Tubular Acidosis
Hypokalemia, Failure to thrive ORPHA:18
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Small for gestational age, Hy... OMIM:619573
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Grfoma
Weight loss, Hypercalcemia, Subcutaneous lipoma ORPHA:97261
Marburg Hemorrhagic Fever
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy... ORPHA:99826
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:133540
Johanson-Blizzard Syndrome
Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration, Conjugated hyperbiliru... OMIM:243800
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:216400
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Splenomegaly, Anemia, Hypocalcemic seizures OMIM:612301
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Hyperkalemia, Ne... ORPHA:168558
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Weight loss ORPHA:91347
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Hyperkalemia, Ne... ORPHA:289548
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypertriglyceridemi... ORPHA:275761
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Sarcoidosis
Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Facial... ORPHA:797
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Weight loss, Hypercalcemia ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Umbilical hernia, Abnormal dental enamel morphology, Fa... ORPHA:904
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hyponatremia, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Williams-Beuren Syndrome
Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Inguinal hernia, Fl... OMIM:194050
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Decreased body we... ORPHA:340
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip contracture, Bilateral camptoda... ORPHA:821
Vascular Ehlers-Danlos Syndrome
Cigarette-paper scars, Umbilical hernia, Cystocele, Inguinal hernia, Uterine prolapse, Hypokalemia ORPHA:286
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Hypoglycemia, Decreased circulating renin level, Hyponatremia, Cam... OMIM:201750

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 PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pitpnm1tm1a(EUCOMM)Wtsi PMC6459510
Pitpnm1 is expressed in hair cells during development but is not required for hearing. Neuroscience (June 2013) Pitpnm1tm1a(EUCOMM)Wtsi PMC3748349

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MGI Allele Allele Type Produced
Pitpnm1tm44617(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pitpnm1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pitpnm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pitpnm1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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