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Gene: Ptchd3 MGI:1921925

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Gene Summary

Name:
patched domain containing 3
Synonyms:
4930451E13Rik,  4933440L20Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating serum albumin level Ptchd3em1(IMPC)Mbp HOM Early adult 8.74×10-06
decreased circulating total protein level Ptchd3em1(IMPC)Mbp HOM Early adult 1.13×10-05
decreased circulating calcium level Ptchd3em1(IMPC)Mbp HOM Early adult 2.68×10-05
abnormal eye morphology Ptchd3em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Ptchd3em1(IMPC)Mbp HOM Early adult 0.00

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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 Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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Human diseases caused by Ptchd3 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 Ptchd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Adamantinoma
Hypercalcemia ORPHA:55881
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hypoalbuminemia OMIM:618805
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Pierson Syndrome
Hypoplasia of the ciliary body, Hypoproteinemia, Rieger anomaly, Hypoplasia of the iris OMIM:609049
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Ring Chromosome 10 Syndrome
Microphthalmia, Hypocalcemia ORPHA:1438
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Omenn Syndrome
Hypoproteinemia OMIM:603554
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Dengue Fever
Hypoproteinemia ORPHA:99828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormally large globe, Hypoproteinemia, Hypocalcemia ORPHA:1655
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Anencephaly 2
Anophthalmia OMIM:619452
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hypocalcemia OMIM:602361
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Timothy Syndrome
Hypocalcemia OMIM:601005
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Leishmaniasis
Hypoalbuminemia ORPHA:507
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Sanjad-Sakati Syndrome
Hyperphosphatemia, Aplasia/Hypoplasia affecting the eye, Hypocalcemia ORPHA:2323
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Microphthalmia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Trisomy 13
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Walker-Warburg Syndrome
Anophthalmia, Abnormal circulating creatine kinase concentration, Microphthalmia ORPHA:899
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Galloway-Mowat Syndrome 3
Microphthalmia, Hypoalbuminemia OMIM:617729
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Abnormal blood ion con... ORPHA:37042
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Hypophosphatasia
Hypercalcemia ORPHA:436
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia ORPHA:73224
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris, Hypoalbuminemia OMIM:251300
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... ORPHA:14
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79443
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia affecting the eye, Hypocalcemia ORPHA:175
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Cockayne Syndrome Type 1
Anophthalmia, Increased blood urea nitrogen ORPHA:90321
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... ORPHA:90363
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Hypotrig... ORPHA:2298
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Hypocalcemia ORPHA:699
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Trisomy 1Q
Anophthalmia ORPHA:261344
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Holoprosencephaly
Anophthalmia, Hyponatremia, Microphthalmia ORPHA:2162
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Gitelman Syndrome
Hypermagnesemia, Hypocalcemia, Hypokalemia, Hypomagnesemia ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Hypocalcemia ORPHA:544482
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
22Q11.2 Deletion Syndrome
Microphthalmia, Hypocalcemia ORPHA:567
Fibular Hemimelia
Anophthalmia ORPHA:93323
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia ORPHA:1101
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Microgastria-Limb Reduction Defects Association
Anophthalmia OMIM:156810
Joubert Syndrome 21
Anophthalmia OMIM:615636
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Mastocytosis
Hypercalcemia ORPHA:98292
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Optic nerve aplasia ORPHA:264200
Pheochromocytoma
Hypercalcemia OMIM:171300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia, Hypocalcemia OMIM:214800
Meckel Syndrome
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:564
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:85138
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Digeorge Syndrome
Hypocalcemia OMIM:188400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia OMIM:619503
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Microphthalmia ORPHA:141099
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Leptospirosis
Hyperproteinemia ORPHA:509
Focal Dermal Hypoplasia
Anophthalmia, Microphthalmia, Aniridia OMIM:305600
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Microphthalmia, Syndromic 2
Anophthalmia, Microphthalmia OMIM:300166
Vipoma
Hypercalcemia, Hypokalemia ORPHA:97282
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Ppoma
Hypercalcemia ORPHA:97278
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia OMIM:243800
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Aplasia/Hypoplasia of the iris, Elevated... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Sarcoidosis
Hypercalcemia ORPHA:797
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia OMIM:309800
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Sotos Syndrome
Hypercalcemia ORPHA:821

Histopathology

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

There is no histopathology data for Ptchd3

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 Ptchd3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mouse Ptchd3 is a non-essential gene. Gene: X (March 2020) Ptchd3tm1a(KOMP)Wtsi PMC7285965
Mouse Ptchd3 is a non-essential gene. Gene (March 2020) Ptchd3tm1a(KOMP)Wtsi 34493359

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ptchd3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ptchd3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ptchd3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptchd3tm43047(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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