Gene Summary

Name:
heat shock protein 1
Synonyms:
Hsp25

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Hspb1tm1.1(KOMP)Vlcg HOM Early adult 2.42×10-05
decreased circulating calcium level Hspb1tm1.1(KOMP)Vlcg HOM Early adult 1.02×10-05
increased heart weight Hspb1tm1.1(KOMP)Vlcg HOM Early adult 7.70×10-05

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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 100% (2 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote Ambiguous
N/A Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote Ambiguous
N/A Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote Ambiguous
N/A Ambiguous
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote Ambiguous
N/A Ambiguous
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Section

27 Images

Eye Morphology

Images Slit Lamp

1 Images

Sleep Wake

Wake state (bmp file)

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Hspb1 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 Hspb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
OMIM:608634
Charcot-Marie-Tooth Disease, Axonal, Type 2F
OMIM:606595
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
ORPHA:99940

The table below shows human diseases predicted to be associated to Hspb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia, Hepatomegaly ORPHA:100025
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Ethanolaminosis
Cardiomegaly OMIM:227150
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:620152
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:172
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly OMIM:613977
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Hepat... OMIM:612526
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia OMIM:266265
Immunodeficiency 32B
Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ... OMIM:226990
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diffuse Neonatal Hemangiomatosis
Anemia, Hepatomegaly, Hypercalcemia, Thrombocytopenia ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, ... ORPHA:848
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma ORPHA:542592
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Pericardial effusion, Hypocalcemia, Reduced proport... ORPHA:90362
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs... OMIM:619374
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphopenia, Hepatosplenome... OMIM:618935
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Anemia OMIM:259700
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi... ORPHA:31824
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... ORPHA:98848
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Pericardial effusion, Hypera... ORPHA:26793
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Hypocalcemia, Truncus arteriosus, Ventricular septal... ORPHA:3426
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abnormal circulating chemokine concentration, Increased circulating interleukin 6 conc... ORPHA:544482
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Cardiomyopathy, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, H... ORPHA:289157
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... OMIM:613470
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased circulating... ORPHA:37042
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef... OMIM:618183
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypocalcemia, Ventricular septal defect, Hepatomegaly, Hypoproteinemia OMIM:235255
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... OMIM:214500
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Ventricular septal defect, Hepatomegaly, Hypoprot... ORPHA:1655
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia, Pericardial effusion ORPHA:73224
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale OMIM:607143
Immunodeficiency 108 With Autoinflammation
Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Hypocalcemia, Cardiomyopathy ORPHA:746
Pearson Syndrome
Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Pancytopenia, Hypocalcemia, Reticulocy... ORPHA:699
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... ORPHA:167
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Increased proportion of CD25+ mast cells, Pancytopenia, Hypersplenism, Leukoc... ORPHA:98850
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Osteomy... OMIM:306400
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Cartilage-Hair Hypoplasia
Cardiomyopathy, Hypocalcemia, Hepatomegaly, Abnormal cardiac septum morphology, Neutropenia, Anemia ORPHA:175
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Thrombocytopen... ORPHA:163979
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, ... ORPHA:667
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... OMIM:619991
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hepat... ORPHA:2785
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney, Episodic hemolytic anemia ORPHA:251004
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Velocardiofacial Syndrome
Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect OMIM:192430
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Beta-Thalassemia Major
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231214
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Ventricular septal defect OMIM:300712
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Pericardial e... ORPHA:358
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis ORPHA:85435
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Hennekam Syndrome
Pericardial effusion, Lymphopenia, Hypocalcemia, Splenomegaly ORPHA:2136
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
22Q11.2 Deletion Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly, Ventricular... ORPHA:567
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hypercalcemia ORPHA:199299
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Chronic m... ORPHA:79124
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... ORPHA:83471
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Hypocalcemia OMIM:218330
Monosomy 13Q34
Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Shwachman-Diamond Syndrome
Pneumonia, Bone marrow hypocellularity, Normocytic anemia, Aplastic anemia, Eczematoid dermatitis... ORPHA:811
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Hypomagnesemia, Mitral atresia, Muscular ventricular septal defect, Hepat... OMIM:619503
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F OMIM:619769
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin... ORPHA:95409
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Digeorge Syndrome
Tetralogy of Fallot, Splenomegaly, Hypocalcemia, Ventricular septal defect, Truncus arteriosus, H... OMIM:188400
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Hepatomegaly, Acute myeloid leuke... OMIM:260400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Complete atrioventricular canal defect ORPHA:476126
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Addison Disease
Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperka... ORPHA:85138
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Abnormal heart morphology, Atrial septal defect, Hypertriglyceridemia... ORPHA:369837
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Lymphopenia, Hypocalcemia, Ventricular septal... OMIM:214800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating antibody level, Tra... ORPHA:3132
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Ventricular septal defect OMIM:620330
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Vipoma
Hypokalemia, Hepatomegaly, Hypercalcemia, Normochromic anemia ORPHA:97282
Osteopetrosis, Autosomal Recessive 7
Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly OMIM:612301
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Glucagonoma
Hepatomegaly, Hypercalcemia, Acanthocytosis, Normochromic anemia ORPHA:97280
Pheochromocytoma
Hypercalcemia OMIM:171300
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Fanconi Anemia, Complementation Group E
Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... OMIM:600901
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocyto... OMIM:227645
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Splenomegaly, Hypocalcemia, Ventricular septal de... OMIM:243800
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Somatostatinoma
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Fanconi Anemia, Complementation Group A
Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... OMIM:227650
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, Hypochromic ... OMIM:301040
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocyto... OMIM:227646
Ppoma
Hepatomegaly, Hypercalcemia ORPHA:97278
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Grfoma
Hepatomegaly, Hypercalcemia ORPHA:97261
Sarcoidosis
Hypercalcemia, Leukopenia, Increased T cell count, Hepatomegaly, Eosinophilia, Thrombocytopenia, ... ORPHA:797
Williams Syndrome
Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitra... ORPHA:904
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... ORPHA:56
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Williams-Beuren Syndrome
Coronary artery stenosis, Myxomatous mitral valve degeneration, Mitral valve prolapse, Ventricula... OMIM:194050
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Sotos Syndrome
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Acute lymphoblastic l... ORPHA:821
Pmm2-Cdg
Aspiration pneumonia, Impaired neutrophil chemotaxis, Pericarditis ORPHA:79318
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
ORPHA:99940
Charcot-Marie-Tooth Disease, Axonal, Type 2F
OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
OMIM:608634

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 Hspb1

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 Hspb1.

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

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Hspb11tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)