Gene Summary

Name:
phosphatidylinositol transfer protein, cytoplasmic 1
Synonyms:
RDGB-BETA,  C330017I21Rik,  RDGBB1,  1110020B03Rik,  5830436L09Rik

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
hyperactivity Pitpnc1em1(IMPC)KMPC HOM   Early adult 4.57×10-05
increased circulating alkaline phosphatase level Pitpnc1em1(IMPC)KMPC HOM Early adult 4.44×10-05
increased circulating serum albumin level Pitpnc1em1(IMPC)KMPC HOM Early adult 8.83×10-05
decreased total body fat amount Pitpnc1em1(IMPC)KMPC HOM Early adult 1.32×10-05
increased lean body mass Pitpnc1em1(IMPC)KMPC HOM Early adult 7.67×10-05
decreased circulating glucose level Pitpnc1em1(IMPC)KMPC HOM Early adult 1.47×10-05
increased circulating creatine kinase level Pitpnc1em1(IMPC)KMPC HOM Early adult 4.93×10-10
increased bone mineral density Pitpnc1em1(IMPC)KMPC HOM Late adult 1.80×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Pitpnc1 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 Pitpnc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteoporosis
Osteoporosis OMIM:166710
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:218300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:617156
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Immunodeficiency 8
Hyperactivity OMIM:615401
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Mat... ORPHA:324575
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL chole... OMIM:246700
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Hypoglycemia ORPHA:446
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia OMIM:208920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hyperammonemia,... OMIM:618120
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic hypoglycemia,... ORPHA:276580
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia, Hypoglycemia OMIM:616113
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Broad-based gait, Hypoalbuminemia OMIM:618805
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... ORPHA:64753
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Hypoglycemia, Failure to thrive ORPHA:67046
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Abnormal circulating leucine concentration, Hypoglycemia, Hyperammo... ORPHA:6
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Failure to thrive, Hypoalbuminemia ORPHA:79320
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia, Small for gestational age, Failure to thrive, Hyperalaninemia OMIM:614702
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density OMIM:614856
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Lethargy OMIM:605899
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Nephrotic Syndrome, Type 14
Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Abnormal circulating lipid c... ORPHA:2298
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating se... OMIM:615160
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperglycinemi... OMIM:619386
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, ... ORPHA:2089
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Increased circulating ferritin concentration, Elevated circulating C-reactive ... OMIM:616050
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Camptodactyly, Hypoalbuminemia OMIM:608104
Glutaric Acidemia Type 3
Failure to thrive, Abnormality of circulating enzyme level, Elevated circulating glutaric acid co... ORPHA:35706
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Juvenile Huntington Disease
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... ORPHA:248111
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Failure to thrive, Abnormal circulating threonine concentration, Hypoargininemia, A... ORPHA:79096
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... OMIM:259700
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Hyperammonemia, Ataxia, Elevated plasma bran... ORPHA:2394
Dysosteosclerosis
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Failure to thrive, Hyperammonemia, Recurrent hypoglycemia, Impaired gluconeogenesis... OMIM:212140
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent fractur... ORPHA:53
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... OMIM:619055
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Elevated circulating creatine kinase concentration, Knee flexion contracture, Hy... OMIM:616809
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostas... OMIM:231100
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Lethargy OMIM:274270
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... ORPHA:88618
Eosinophilic Gastroenteritis
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age OMIM:609425
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Decreased body weight, Neonata... ORPHA:1667
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density OMIM:239000
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Hypoglycemia, Elevated circulating creatine kinase concentration... ORPHA:42
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Neonatal hyperbilirubinemia, Failure... ORPHA:73272
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Elbow flexion contracture OMIM:619470
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Failure to thrive OMIM:614736
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Arthrogryposis multiplex congenita, Joint contracture of the hand, Ing... ORPHA:352490
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia, Hyperammonemia OMIM:616483
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia OMIM:618838
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:615751
Majeed Syndrome
Synovitis, Increased susceptibility to fractures, Osteomyelitis, Increased bone mineral density, ... ORPHA:77297
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Failure to thrive, Abnormal subcutaneous fat tissue distribution, Ataxia, Fl... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoglycemia, Hypoalbuminemia OMIM:618329
Maple Syrup Urine Disease
Elevated circulating L-alloisoleucine concentration, Hypoglycemia, Ataxia, Elevated plasma branch... OMIM:248600
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Flexion contracture, Hypoalbuminemia ORPHA:367
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Failure to thrive, Lethargy OMIM:210200
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight OMIM:618342
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis ORPHA:77259
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia OMIM:271980
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Myopathy With Extrapyramidal Signs
Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely elevated ... OMIM:615673
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Dysmetria, Steppage gait, Failure t... ORPHA:14
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Conjugated hyperbili... OMIM:617049
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Cachexia, Hyperactivity, Ataxia ORPHA:52503
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Failure to thrive, Decreased serum iron, Abnormal circulating selenium conc... ORPHA:89842
Camurati-Engelmann Disease
Sclerosis of skull base, Increased bone mineral density, Cortical thickening of long bone diaphys... OMIM:131300
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hyperamm... OMIM:212138
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Flexion contracture, Hypoalbuminemia OMIM:617303
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia OMIM:618314
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive OMIM:617865
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hyperactivity, Camptodactyly, Umbilical hernia OMIM:235510
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Aicardi-Goutieres Syndrome 9
Failure to thrive, Dystonia, Weight loss, Hypoalbuminemia OMIM:619487
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating creatin... ORPHA:36234
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Failure to thrive, Abnormal adipose tissue morphology, Recurre... ORPHA:79324
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Galloway-Mowat Syndrome 1
Dystonia, Hypoalbuminemia, Small for gestational age, Joint contracture of the hand, Ataxia, Hiat... OMIM:251300
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Failure to thrive, Hypoalbuminemia OMIM:617729
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Hypoalbuminemia ORPHA:67
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Inguinal hernia, Congenital diaphragmati... OMIM:614294
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Hiatus hernia, Neonatal hyperbilirubinemia OMIM:609727
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait, Obesity ORPHA:3077
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Hypocalcemia, Hypomagnesemia,... ORPHA:37042
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, Weight loss, H... ORPHA:88673
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Failure to thrive, Atrophic scars, Enamel hypoplasia, Hypoalbuminemia ORPHA:79396
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity OMIM:615286
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity OMIM:614613
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Werner Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Increased body weight OMIM:182290
Al Amyloidosis
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia ORPHA:85443
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Sclerosis of hand bone ORPHA:2905
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
Potocki-Lupski Syndrome
Hypocholesterolemia, Hyperactivity, Small for gestational age, Failure to thrive OMIM:610883
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait OMIM:300958
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Small for gestational age, Failure to thri... OMIM:222470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hernia, Flexion contracture, Hypoalbuminemia ORPHA:505248
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Trichothiodystrophy
Multiple joint contractures, Craniosynostosis, Increased bone mineral density, Osteopenia ORPHA:33364
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Osteoporosis, Arthrogr... ORPHA:800
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia OMIM:614104
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failur... OMIM:613658
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity ORPHA:412035
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase concentration, E... ORPHA:99826
Gaucher Disease
Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Osteomyelitis, Increased... ORPHA:355
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Juvenile Polyposis Of Infancy
Cachexia, Subcutaneous lipoma, Hypoalbuminemia ORPHA:79076
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hamstring contracture... ORPHA:139396
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased bone mineral density, Osteolysis ORPHA:77261
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Large for gestational age, Neonatal hypoglycemia ORPHA:457485
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... ORPHA:90363
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Ectopic ossification, Reduced bon... ORPHA:79443
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Flexion contracture, Unsteady gait ORPHA:35069
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Erdheim-Chester Disease
Osteolysis, Increased bone mineral density, Osteomyelitis ORPHA:35687
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification ORPHA:79444
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
19P13.12 Microdeletion Syndrome
Hyperactivity, Obesity, Arthrogryposis multiplex congenita, Hyperlipidemia ORPHA:254346
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Hypouricemia, Ataxia ORPHA:760
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Primary Sclerosing Cholangitis
Weight loss, Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... OMIM:119600
Argininemia
Hyperargininemia, Hyperactivity, Spastic gait, Hyperammonemia OMIM:207800
Fructose Intolerance, Hereditary
Hypoglycemia, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hyperuricemia,... OMIM:229600
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Hyperlysinemia
Hypoornithinemia, Dysmetria, Failure to thrive, Hyperammonemia, Hyperactivity, Tip-toe gait, Hype... ORPHA:2203
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Ataxia, Hyperactivity, Broad-based gait, Obesity ORPHA:98794
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Reduced bone mineral density, Increased bone mineral densit... ORPHA:79474
Visceral Steatosis, Congenital
Lethargy, Hypoglycemia, Hypocalcemia OMIM:228100
Glass Syndrome
Hyperactivity, Inguinal hernia, Broad-based gait, Camptodactyly OMIM:612313
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Hyperactivity, Broad-based gait, Camptodactyly of finger, Obesity, Inguinal hernia ORPHA:85293
Angelman Syndrome
Hyperactivity, Obesity, Progressive gait ataxia, Broad-based gait OMIM:105830
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Diabetes mellitus ORPHA:449291
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hernia OMIM:252930
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Bone Marrow Failure Syndrome 3
Failure to thrive, Hernia, Amelogenesis imperfecta, Hyperactivity, Enamel hypoplasia OMIM:617052
Williams Syndrome
Joint laxity, Osteoporosis, Osteopenia, Synostosis of joints, Increased bone mineral density, Joi... ORPHA:904
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Multiple lipomas ORPHA:137605
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Osteopetrosis, Craniosynostosis, Reduced bone mineral density ORPHA:667
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholes... OMIM:619534
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Immunodeficiency 82 With Systemic Inflammation
Weight loss, Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Hyperactivity OMIM:256800
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Diabetes mellitus, Hypocalcemia, Obesity, Hyperphosphatemia ORPHA:280651
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis ORPHA:2785
Pmm2-Cdg
Insulin resistance, Failure to thrive, Abnormal subcutaneous fat tissue distribution, Lipodystrop... ORPHA:79318
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones OMIM:269150
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia ORPHA:75565
Mend Syndrome
Failure to thrive, Hyperactivity, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol ORPHA:401973
Choreoacanthocytosis
Lingual dystonia, Elevated circulating creatine kinase concentration, Loss of ambulation, Oromand... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pitpnc1

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 Pitpnc1.

No publications found that use IMPC mice or data for Pitpnc1.

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MGI Allele Allele Type Produced
Pitpnc1em1(IMPC)KMPC Indel Mice
Pitpnc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pitpnc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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