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Gene: Pitpnc1 MGI:1919045

Gene Summary

Name:

phosphatidylinositol transfer protein, cytoplasmic 1

Synonyms:

RDGB-BETA, C330017I21Rik, RDGBB1, 1110020B03Rik, 5830436L09Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
hyperactivity	Pitpnc1^{em1(IMPC)KMPC}	HOM	Early adult	4.57×10^-05
increased circulating alkaline phosphatase level	Pitpnc1^{em1(IMPC)KMPC}	HOM	Early adult	4.44×10^-05
increased circulating serum albumin level	Pitpnc1^{em1(IMPC)KMPC}	HOM	Early adult	8.83×10^-05
decreased total body fat amount	Pitpnc1^{em1(IMPC)KMPC}	HOM	Early adult	1.32×10^-05
increased lean body mass	Pitpnc1^{em1(IMPC)KMPC}	HOM	Early adult	7.67×10^-05
decreased circulating glucose level	Pitpnc1^{em1(IMPC)KMPC}	HOM	Early adult	1.47×10^-05
increased circulating creatine kinase level	Pitpnc1^{em1(IMPC)KMPC}	HOM	Early adult	4.93×10^-10
increased bone mineral density	Pitpnc1^{em1(IMPC)KMPC}	HOM	Late adult	1.80×10^-05

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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

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Slit Lamp

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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.

Human diseases associated with Pitpnc1 (0 diseases)
Human diseases predicted to be associated with Pitpnc1 (380 diseases)

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	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
Pitpnc1^{em1(IMPC)KMPC}	Indel	Mice
Pitpnc1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pitpnc1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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Gene: Pitpnc1 MGI:1919045

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Eye Morphology

Eye Morphology

Human diseases caused by Pitpnc1 mutations

Histopathology

IMPC related publications

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Access Data Release 16.0 Data