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Gene: Gpcpd1 MGI:104898

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Gene Summary

Name:
glycerophosphocholine phosphodiesterase 1
Synonyms:
2310004G06Rik,  Prei4,  2310032D16Rik

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 creatinine level Gpcpd1em1(IMPC)Tcp HET   Early adult 5.91×10-05
decreased prepulse inhibition Gpcpd1em1(IMPC)Tcp HET Early adult 1.78×10-07
decreased circulating serum albumin level Gpcpd1em1(IMPC)Tcp HET Early adult 8.15×10-05
preweaning lethality, complete penetrance Gpcpd1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology Gpcpd1em1(IMPC)Tcp HET Early adult 0.00
enlarged lymph nodes Gpcpd1em1(IMPC)Tcp HET Early adult 0.00
cataract Gpcpd1em1(IMPC)Tcp HET   Early adult 3.20×10-06
decreased circulating calcium level Gpcpd1em1(IMPC)Tcp HET   Early adult 6.75×10-05
abnormal sternum morphology Gpcpd1em1(IMPC)Tcp HET Early adult 0.00
abnormal cholesterol homeostasis Gpcpd1em1(IMPC)Tcp HET   Early adult 6.21×10-05

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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.

Eye Morphology

Images Slit Lamp

70 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

97 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Gpcpd1 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 Gpcpd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... OMIM:619073
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract OMIM:146200
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Thin ribs, Short foot, Cortical t... ORPHA:93324
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, He... OMIM:209950
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... ORPHA:79445
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, Aniridia, Hypoplastic sp... OMIM:602361
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Diarrhea 13
Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys... OMIM:600081
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Enlargement of the costocho... OMIM:264700
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Developmental cataract, Short 5th finger, Hypocalcemia, Hyp... ORPHA:557003
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... ORPHA:36913
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Cataract, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetan... OMIM:612462
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Small hand, Thin ribs, Short foot, Slender long bone, Hypocalcemia, Short palm OMIM:244460
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia OMIM:175500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen... ORPHA:398063
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:616050
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of t... ORPHA:79320
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Cataract, Hypocalcemia, Short distal phalanx of finger ORPHA:1563
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Albers-Schönberg Osteopetrosis
Genu valgum, Abnormal epiphysis morphology, Hypocalcemia, Abnormal metacarpal morphology, Abnorma... ORPHA:53
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 11
Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholesterolemia, Clin... OMIM:616730
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Intermediate Osteopetrosis
Hypocalcemia, Erlenmeyer flask deformity of the femurs, Hepatosplenomegaly ORPHA:210110
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of the costochond... ORPHA:289157
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... OMIM:241600
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:242150
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop... OMIM:308240
Ring Chromosome 10 Syndrome
Sandal gap, Hypocalcemia, Tapered finger ORPHA:1438
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Leishmaniasis
Splenomegaly, Hypoalbuminemia, Lymphadenopathy ORPHA:507
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Adamantinoma
Hypercalcemia ORPHA:55881
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Developmental cataract, Hypocalcemia, Short femoral neck OMIM:618440
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal scleros... ORPHA:94089
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Intestinal l... ORPHA:90362
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Bowing of the legs ORPHA:89937
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Hypocalcemia, Abnormal hip bone morphology, Hypophosphatemia, Abnormal m... ORPHA:93160
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... OMIM:603553
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Cataract, Splenomegal... OMIM:617913
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
X-Linked Agammaglobulinemia
Hypocalcemia, Abnormality of the lymphatic system, Conjunctivitis, Abnormality of the tonsils ORPHA:47
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Abno... ORPHA:411634
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly OMIM:608104
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Abno... ORPHA:352540
Pseudohypoparathyroidism Type 1C
Calcinosis, Short metacarpal, Short fifth metatarsal, Cataract, Short metatarsal, Hypocalcemic se... ORPHA:79444
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic seizures OMIM:241410
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hypoalbuminemia, Steatorrhea OMIM:602579
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Sanjad-Sakati Syndrome
Corneal opacity, Small hand, Short foot, Hyperphosphatemia, Astigmatism, Hypocalcemia ORPHA:2323
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Hypocalcemia OMIM:259700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Splenomegaly, Postaxial hand polydactyly, Pancreatic lymphangiectasis, ... OMIM:235255
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Developmental cataract, Hyperphosphatemia, Hypocalcemia, Thickened co... OMIM:127000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Clubbing of fingers, Hypoalbuminemia, Intestinal lymphangiectasia, Hypoproteinemia OMIM:226300
Immunodeficiency 32B
Splenomegaly, Hypoalbuminemia OMIM:226990
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea ORPHA:2070
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529799
Hypophosphatasia
Bowing of the long bones, Abnormal rib morphology, Hypercalcemia, Abnormal metaphysis morphology ORPHA:436
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia OMIM:614441
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... ORPHA:540
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Short iliac bones, Metaphyseal widening, Elevated circulating creatinine concentration,... OMIM:614376
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Cataract, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocal... OMIM:103580
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly OMIM:601005
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocalcemia, Short... OMIM:607143
Pseudohypoparathyroidism Type 1A
Calcinosis, Short metacarpal, Short fifth metatarsal, Cataract, Band keratopathy, Broad 1st metac... ORPHA:79443
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Postaxial hand polydactyly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia... ORPHA:1655
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, S... OMIM:235510
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Metaphyseal widening, Clubbing, Flared iliac wing, Hypoalbuminemia, Bone marrow hyp... OMIM:617303
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy ORPHA:69077
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Bowing of the long bones, Abnormal distal phalanx morphology of finger, Fl... ORPHA:175
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Hypercalcemia, Metaphyseal dysplasia OMIM:614732
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Flared metaphysis, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Hip sublux... OMIM:259720
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Diaphyseal sclerosis, Erlenmeyer flask deformity of the femurs, Hypocalcemia OMIM:618476
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Thymic Neuroendocrine Tumor
Hypercalcemia, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphad... ORPHA:97289
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H... ORPHA:37042
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... OMIM:251880
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... ORPHA:1856
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodysplasia, Clubbing ... OMIM:156400
Avian Influenza
Conjunctivitis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated cir... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Sandal gap, Small hand, Short foot, Astigmatism, Decreas... OMIM:618885
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Alg12-Cdg
Hyponatremia, Sandal gap, Proximal placement of thumb, Long fingers, Short long bone, Hypoalbumin... ORPHA:79324
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs OMIM:615605
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Autosomal Dominant Hypocalcemia
Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Splenomegaly, Abnormal rib morphology, Lymphadenopathy, Abnormal epiphy... ORPHA:667
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Bowing of the legs, Short ribs, Metaphyseal cupping... OMIM:241500
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Corneal erosion, Decreased serum zinc, Hypoalbuminemia, Decreased circulati... ORPHA:89842
Juvenile Polyposis Syndrome
Hypokalemia, Clubbing, Hypoalbuminemia OMIM:174900
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Femoral bowing... OMIM:602080
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal stroma, Camptodac... OMIM:251300
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Kayser-Fleischer r... OMIM:277900
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Pearson Syndrome
Cataract, Splenomegaly, Steatorrhea, Hypophosphatemia, Corneal stromal edema, Hypokalemia, Bone m... ORPHA:699
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Ke... ORPHA:14
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone marr... ORPHA:86839
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Rachitic rosary, Hypophosphatemia OMIM:612089
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Metaphyseal irregularity OMIM:239200
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Equinus calcaneus ORPHA:746
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea OMIM:212750
Craniofacioskeletal Syndrome
Small hand, Short foot, Hypocalcemia, Short palm, Clinodactyly of the 5th finger, Narrow iliac wi... OMIM:300712
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenop... ORPHA:2136
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, 2-3 toe syndactyly, Bulbou... ORPHA:163979
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Galactokinase Deficiency
Cataract, Hepatosplenomegaly, Increased level of galactitol in plasma, Nuclear cataract, Hypergal... ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Broad distal phalanges of all fingers, Short toe, Fibula... OMIM:218330
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Galloway-Mowat Syndrome 3
Arachnodactyly, Hypoalbuminemia, Hip dislocation, Camptodactyly OMIM:617729
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatosplenomegaly OMIM:619487
Trichohepatoenteric Syndrome 1
Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Increased serum iron, Hypoalbu... OMIM:222470
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Xfe Progeroid Syndrome
Hypoalbuminemia, Corneal scarring OMIM:610965
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Cataract, Tapered toe, Elevated circulating creatine kinase concentration, Tapered fing... OMIM:608836
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening OMIM:617994
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Developmental cataract, Cortical thickening o... ORPHA:93325
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Smith-Lemli-Opitz Syndrome
Cataract, Overlapping toe, Proximal placement of thumb, Metatarsus adductus, Splenomegaly, 2-3 to... OMIM:270400
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Infantile Myofibromatosis
Abnormal metaphysis morphology, Hypercalcemia ORPHA:2591
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... OMIM:277440
Velocardiofacial Syndrome
Posterior embryotoxon, Hypocalcemia OMIM:192430
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... OMIM:613179
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Enlarged tonsils, Hypocalcemia, Bone marrow h... ORPHA:2785
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Hypoalbuminemia, Bone marrow hypocellularity, Hepatosplenomegaly ORPHA:505248
Sickle Cell Anemia
Abnormality of the spleen, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:232
Juvenile Polyposis Of Infancy
Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, Broad phalanx of the... ORPHA:79076
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
22Q11.2 Deletion Syndrome
Cataract, Arachnodactyly, Abnormality of the tonsils, Splenomegaly, Hand polydactyly, Hypoplasia ... ORPHA:567
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Aplasia of th... ORPHA:476126
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism ORPHA:358
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia ORPHA:199299
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... OMIM:619381
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... OMIM:223900
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Increased circu... OMIM:619991
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:95409
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Charge Syndrome
Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Absent radius, Short thumb, Abnormal ri... OMIM:214800
Primary Sclerosing Cholangitis
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly ORPHA:171
Monosomy 13Q34
Postaxial foot polydactyly, Postaxial hand polydactyly, Hypercalcemia ORPHA:96168
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal sacroiliac joint morphology, Coxa vara, Tibial bowing, Hypophosp... ORPHA:289176
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Upper limb undergrowth, Slender long bone, Astigmatism ORPHA:369837
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Papillorenal Syndrome
Cataract, Elevated circulating creatinine concentration, Lens luxation OMIM:120330
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Hyperextensibility of the finger joints, Internally rotated shoulders, Tapered f... OMIM:619503
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Thymoma, Increas... ORPHA:85138
Digeorge Syndrome
Sclerocornea, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, P... OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Splenomegaly, Increased circula... OMIM:619534
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe clinodactyly OMIM:620330
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Avascular necrosis of the capital femoral epiphysis, Elevated circulating creatinine concentration ORPHA:247691
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Multiple rib fractures, Hypocalcemic seizures, Femur fracture OMIM:612301
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Multiple Endocrine Neoplasia Type 2
Cervical lymphadenopathy, Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Overlapping toe OMIM:617478
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splenomegaly, Conjunctiv... OMIM:243800
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Hypercalcemia ORPHA:97261
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia ORPHA:75565
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97283
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia, Thymoma ORPHA:276152
Vipoma
Hypokalemia, Increased circulating cortisol level, Hypercalcemia ORPHA:97282
Ppoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97278
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Glucagonoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97280
Williams Syndrome
Hallux valgus, Posterior embryotoxon, Flat cornea, Cataract, Down-sloping shoulders, Hypercalcemi... ORPHA:904
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Elevated circulating C-reactive protein concentration, Anterior chamber flare, Elevated... ORPHA:91500
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Hypercalcemia ORPHA:913
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Elevated circulating creati... ORPHA:449395
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Sarcoidosis
Cataract, Hypercalcemia, Abnormal lymph node morphology, Lymphadenopathy, Keratoconjunctivitis si... ORPHA:797
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia, Thymoma ORPHA:652
Craniorachischisis
Bifid sternum ORPHA:63260
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Pmm2-Cdg
Long fingers, Reduced thyroxin-binding globulin, Cataract, Hypoalbuminemia ORPHA:79318
Williams-Beuren Syndrome
Hallux valgus, Hypercalcemia, Down-sloping shoulders, Blue irides, Radioulnar synostosis, Clinoda... OMIM:194050
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Sotos Syndrome
Hip contracture, Cataract, Hypercalcemia, Bilateral camptodactyly, 2-3 toe syndactyly, Astigmatism 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 Gpcpd1

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 Gpcpd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Gpcpd1-GPC metabolic pathway is dysfunctional in aging and its deficiency severely perturbs glucose metabolism. Nature aging (January 2024) Gpcpd1tm1c(EUCOMM)Hmgu Gpcpd1tm1a(EUCOMM)Hmgu 38238601

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gpcpd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpcpd1em1(IMPC)Tcp Exon Deletion Mice

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