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Gene: Prkcz MGI:97602

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Gene Summary

Name:
protein kinase C, zeta
Synonyms:
Pkcz,  aPKCzeta,  zetaPKC

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
increased circulating iron level Prkcztm1a(EUCOMM)Wtsi HET Early adult 2.54×10-06
increased circulating alkaline phosphatase level Prkcztm1a(EUCOMM)Wtsi HOM Early adult 2.27×10-10
decreased circulating creatinine level Prkcztm1a(EUCOMM)Wtsi HET   Early adult 7.10×10-05
increased circulating aspartate transaminase level Prkcztm1a(EUCOMM)Wtsi HOM Early adult 1.12×10-10
increased lactate dehydrogenase level Prkcztm1a(EUCOMM)Wtsi HOM Early adult 1.75×10-15
increased circulating alanine transaminase level Prkcztm1a(EUCOMM)Wtsi HOM Early adult 7.45×10-12
increased circulating LDL cholesterol level Prkcztm1a(EUCOMM)Wtsi HOM Early adult 7.07×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

View images
Legacy Phenotype Associated Images
Prkcztm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Prkcztm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Prkcztm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Prkcztm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Prkcztm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI

View all 261 images

Prkcztm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prkcztm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prkcztm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prkcztm1a(EUCOMM)Wtsi
eye, abnormal pupil morphology, impaired pupillary reflex, HOM, Female, WTSI

Human diseases caused by Prkcz 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.

The table below shows human diseases associated to Prkcz by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
1P36 Deletion Syndrome
Hepatic steatosis, Annular pancreas, Abnormality of the spleen, Abnormality of the liver ORPHA:1606

The table below shows human diseases predicted to be associated to Prkcz by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Lithium Transport
Bipolar affective disorder OMIM:152420
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Panic Disorder 1
Anxiety OMIM:167870
Major Depressive Disorder
Depression OMIM:608516
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Major Affective Disorder 1
Depression OMIM:125480
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Geniospasm 1
Anxiety OMIM:190100
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... OMIM:615517
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate, Ami... OMIM:603358
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Curly hair, Fine hair, Sparse hair, Sparse eyelashes, Sparse scalp hair OMIM:616760
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... ORPHA:254704
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair, Brittle hair OMIM:617252
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... OMIM:193510
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenome... OMIM:150550
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, White forelock, Patchy hypo- and hyperpigmentation OMIM:601706
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocy... ORPHA:277
Immunodeficiency 68
Abscess, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus ORPHA:231736
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Increased B cell count OMIM:618982
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine OMIM:617744
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritabi... ORPHA:66624
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... ORPHA:897
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased serum iron OMIM:206100
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Lymphadenitis, Lymphopenia, Impaired... OMIM:618986
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Obesity And Hypopigmentation
Red hair OMIM:620195
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... OMIM:615559
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Anemia, Increased proportion of e... OMIM:619824
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, B lymphocytopenia, Increased... OMIM:618459
Piebaldism
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... ORPHA:79435
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow morphology, P... ORPHA:3437
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:79230
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Elevated circulating creatinine concentration OMIM:617056
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... ORPHA:894
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentration OMIM:231100
Griscelli Syndrome Type 1
Premature graying of hair, Partial albinism, Iris hypopigmentation, White hair ORPHA:79476
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Oculocutaneous Albinism
Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, White ... ORPHA:55
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, Lymphadenopath... OMIM:618048
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Tyrosinosis
Hypertyrosinemia OMIM:276800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:614072
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Oculocutaneous Albinism Type 1
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... ORPHA:352731
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... OMIM:619705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:604250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Severe B lymphocytopenia... OMIM:102700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Autoimmune hemolytic anemia, B lym... OMIM:606367
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia OMIM:618108
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... OMIM:613095
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Hypopigmentation ... ORPHA:999
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration OMIM:620138
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Oculocutaneous Albinism Type 1A
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Blue irides, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent skin pigment... OMIM:203100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Hepatomegaly, B... OMIM:619652
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411515
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... ORPHA:2442
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Coloboma, Ocular, Autosomal Dominant
Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Optic nerve... OMIM:120200
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Decreased serum creatinine OMIM:618885
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Generalized lymphadenopathy, Chronic neutr... OMIM:614700
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613266
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Carney Complex, Type 1
Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions OMIM:160980
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated hepatic iron concentration, Elevated transferrin saturation, Increased circulating ferri... OMIM:615234
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Hyperuricemia, Elevated circulating creatinine concentration ORPHA:79233
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Synophrys, He... ORPHA:3440
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia OMIM:604290
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair ORPHA:100
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Relapsing Fever
Increased total bilirubin, Elevated circulating C-reactive protein concentration, Elevated circul... ORPHA:91547
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Splenomegaly, Schistocytosis OMIM:616084
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Laron Syndrome
Hypercholesterolemia ORPHA:633
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia OMIM:615966
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural ki... ORPHA:35078
Hermansky-Pudlak Syndrome 1
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... OMIM:203300
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Aminoaciduria, Hypocalce... ORPHA:411634
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi... ORPHA:3214
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Reticulocytopenia, Thrombocytopenia... ORPHA:508542
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Cafe-au-lait spot OMIM:618541
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:235400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... OMIM:608836
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... OMIM:210250
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Severe B lymphocytopenia, Hepatic fibrosis, Lymphopenia, Macronodular cirrhosis, Portal h... OMIM:620005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, R... OMIM:614643
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Generalized hypopigmentation of hair, Generalized hype... ORPHA:3322
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron ORPHA:98870
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:370
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic iron concentration, Increased serum iron, Decreased transferrin saturation, Incr... ORPHA:300298
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:278000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98795
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormality of the nai... ORPHA:238468
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... ORPHA:36234
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hyperuricemia, Elevated circulating creatinine concentration OMIM:174000
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:85450
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, B lymphocytopenia, Lymph no... OMIM:300755
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411511
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Hyaloid vascular remnant and retrolental mass, Glial rem... ORPHA:91495
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... ORPHA:391487
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:465508
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:49041
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Chediak-Higashi Syndrome
Iris hypopigmentation, Giant melanosomes in melanocytes, Hypopigmentation of the skin, Hypopigmen... OMIM:214500
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98794
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Pierson Syndrome
Hypoproteinemia, Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular syste... OMIM:609049
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Severe B lymphocytopenia, Abnormal lymphocyte morphology ORPHA:293978
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Hepatitis, Follicular hyperplasia, Decreased proportio... OMIM:619381
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Abnormality of iron homeostasis ORPHA:231222
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma OMIM:221900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Reduced natural killer ce... ORPHA:221139
Hermansky-Pudlak Syndrome
Long eyelashes, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Pa... ORPHA:79430
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Cafe-au-lait s... ORPHA:84064
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmentat... ORPHA:163746
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Increased total i... ORPHA:309854
Marburg Hemorrhagic Fever
Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia,... ORPHA:99826
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hyponatremia ORPHA:275761
Prader-Willi Syndrome
Iris hypopigmentation, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentati... OMIM:176270
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Atelis Syndrome 2
Remnants of the hyaloid vascular system OMIM:620185
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha... OMIM:309000
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Elevated circulating creatinine concentration OMIM:137920
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Severe B lymphocytopenia, Hepatomegaly, B lymphocytopenia, Biliary hyperpl... ORPHA:83617
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism ORPHA:2719
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Hyp... ORPHA:177907
Chédiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98754
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells, Enteroviral hepatitis OMIM:307200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177901
Vici Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism, Albinism OMIM:242840
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Hyperpigmentation of the skin ORPHA:637
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Degcags Syndrome
Long eyelashes, Abnormal eyelash morphology, Abnormal eyebrow morphology, Synophrys, Premature gr... OMIM:619488
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:99829
Menkes Disease
Sparse hair, Hypopigmentation of hair, Woolly hair ORPHA:565
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... ORPHA:449395
Neuroocular Syndrome
Lens coloboma, Blue irides, Brushfield spots, Iris coloboma, Stellate iris, Remnants of the hyalo... OMIM:619539
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Cyclopia, Chorioretinal coloboma, Iris coloboma OMIM:157170
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Aminoaciduria, Elevated circulating creati... ORPHA:91500
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... OMIM:619534
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Red hair, Fair hair ORPHA:280651
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Cystinosis, Nephropathic
Hypopigmentation of hair, Hypopigmentation of the skin, Pigmentary retinopathy, Retinal pigment e... OMIM:219800
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Norrie Disease
Remnants of the hyaloid vascular system, Optic atrophy, Retinal detachment ORPHA:649
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
1P36 Deletion Syndrome
Hepatic steatosis, Annular pancreas, Abnormality of the spleen, Abnormality of the liver ORPHA:1606

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.

Phenotype Allele Zygosity Sex Life Stage
Eye with optic nerve - developmental and structural abnormality Prkcztm1a(EUCOMM)Wtsi HOM Early adult

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 Prkcz.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Stromal SOX2 Upregulation Promotes Tumorigenesis through the Generation of a SFRP1/2-Expressing Cancer-Associated Fibroblast Population. Developmental cell (November 2020) Prkcztm1a(EUCOMM)Wtsi 33207226
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)