Gene Summary

Name:
kaptin
Synonyms:
2E4,  actin-binding protein,  C030013F01Rik,  2310042D10Rik

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
abnormal tail movements Kptntm1a(EUCOMM)Wtsi HOM   Early adult 9.39×10-05
abnormal coat/hair pigmentation Kptntm1a(EUCOMM)Wtsi HOM   Early adult 6.78×10-05
increased body weight Kptntm1a(EUCOMM)Wtsi HOM   Early adult 4.81×10-14
abnormal behavior Kptntm1a(EUCOMM)Wtsi HOM Early adult 7.57×10-06
decreased hemoglobin content Kptntm1a(EUCOMM)Wtsi HOM Early adult 8.55×10-05
increased total body fat amount Kptntm1a(EUCOMM)Wtsi HOM Early adult 5.10×10-09

Download data as:  TSV  XLS

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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 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 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 Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 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 100% (2 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 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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

7 Images

Legacy Phenotype Associated Images

View all 74 images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia ORPHA:397612
Intellectual Developmental Disorder, Autosomal Recessive 41
OMIM:615637

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 53
Recurrent respiratory infections, Failure to thrive, Recurrent infections, Recurrent otitis media OMIM:617585
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Failure to thrive, Recurrent meningococcal disease, Recur... OMIM:614372
Monocyte and dendritic cell deficiency, autosomal recessive
Failure to thrive, Recurrent infections OMIM:614894
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Failure to thrive, Recurrent bacterial infections, Recurrent ot... OMIM:616022
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Respiratory infections in early life OMIM:248110
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respirato... OMIM:613501
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 61
Recurrent otitis media, Obesity, Frequent Giardia lamblia infestation, Recurrent bacterial infect... OMIM:300310
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Recurren... ORPHA:319552
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Melanocytic nevus, Thrombocytopenia, Anemia ORPHA:3319
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Recurrent respiratory infections ORPHA:2432
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism ORPHA:90023
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:275
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Summitt Syndrome
Obesity OMIM:272350
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Recurrent otitis media, Obesity, Bronchiolitis OMIM:615993
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Recurrent pneumonia, Obesity, Recurrent upper respiratory tract infections OMIM:614962
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Obesity, Increased adipose tissue, Failure to thrive, Childhood-ons... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Obesity, Increased adipose tissue, Failure to thrive, Childhood-ons... ORPHA:71526
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Severe infection, Chronic oral ... ORPHA:83471
Central Precocious Puberty
Obesity, Increased body weight, Meningitis, Overgrowth ORPHA:759
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:240500
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Severe recurrent varicella, Recurrent bacterial infections... ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent viral infections, Recurrent bacterial infec... ORPHA:572
Whim Syndrome 1
Recurrent upper respiratory tract infections, Recurrent bacterial infections OMIM:193670
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fu... ORPHA:2688
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis... OMIM:607594
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infe... OMIM:243700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:911
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections OMIM:619693
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Specific Granule Deficiency 2
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Failure to thrive, S... OMIM:617475
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Obesity, Iris hypopigmentation ORPHA:177910
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Recurrent respirator... OMIM:601495
Hyperostosis Frontalis Interna
Obesity, Hypertrichosis OMIM:144800
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71529
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Abcd Syndrome
Large for gestational age, Albinism OMIM:600501
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, M... ORPHA:169090
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Anemia, Increased body weight, Increased body mass index OMIM:614450
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Cortisone Reductase Deficiency 1
Obesity, Hirsutism OMIM:604931
Omenn Syndrome
Failure to thrive, Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal i... OMIM:603554
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair OMIM:609734
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent fungal infections, Rec... OMIM:147060
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Selective Igm Deficiency
Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recurrent pneumonia, Recu... ORPHA:331235
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurr... ORPHA:183675
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233710
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411515
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal number of dense granules OMIM:614072
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent gram-negative bact... OMIM:116920
Halothane Hepatitis
Obesity OMIM:234350
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233690
Hydrocephalus-Obesity-Hypogonadism Syndrome
Absent facial hair, Obesity, Sparse facial hair, Low posterior hairline ORPHA:2183
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections, Cachexia ORPHA:60033
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Griscelli Syndrome Type 2
Premature graying of hair, Pancytopenia, Hypopigmentation of hair, Hemophagocytosis, Splenomegaly... ORPHA:79477
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent bacterial inf... OMIM:613179
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Fine hair, Abnormal eyebrow morphology, Weight loss ORPHA:2221
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Macrocephaly/Autism Syndrome
Recurrent infections, Obesity OMIM:605309
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Failure to thrive in infancy, Recurrent bacterial infections, Severe ... OMIM:606367
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent i... ORPHA:486
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... ORPHA:331206
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thri... ORPHA:100
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Obesity, Blue irides, Red hair OMIM:614613
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Obesity OMIM:615633
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Failur... ORPHA:98791
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Abnormal leukocyte morphology, Anemia, Failure to thri... ORPHA:3322
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Nail dystrophy, Low posterior hairline, Synophrys, Abnormal hair whorl, Hirsutism, Increased body... OMIM:300860
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Dorsocervical fat pad, Increased body weight, Alopecia OMIM:615830
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nail dystrophy OMIM:609057
Leptin Receptor Deficiency
Obesity, Recurrent upper respiratory tract infections OMIM:614963
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Meningitis, Failure to thrive, Sepsis, Recurrent lower respirator... OMIM:308230
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Small nail, Neutropenia, Anemia, Failure to thrive, Umbilical hernia, ... OMIM:614520
Chediak-Higashi Syndrome
Hypopigmentation of hair, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Hypopigmentati... OMIM:214500
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Molluscum contagiosum, Severe varicella zoster infect... OMIM:615816
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Disproportionate tall stature, Atypical scarring of skin, Red hair OMIM:229200
Narcolepsy 7
Obesity OMIM:614250
Squalene Synthase Deficiency
Elbow flexion contracture, Abnormality of hair pigmentation, Failure to thrive in infancy, Knee f... OMIM:618156
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Molluscum contagiosum, Recurrent bacterial infections OMIM:300291
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Vici Syndrome
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... OMIM:242840
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:306400
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Obesity, High anterior hairline, Synophrys, Facial hirsutism, Hir... ORPHA:247768
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Dominant Beta-Thalassemia
Hepatosplenomegaly, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Failure to thrive, Recurrent bacterial infections, Sepsis OMIM:612541
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Pgm3-Cdg
Recurrent pneumonia, Recurrent infections, Recurrent viral infections, Recurrent bacterial infect... ORPHA:443811
Hereditary Methemoglobinemia
Abnormality of the nail, Methemoglobinemia, Small for gestational age ORPHA:621
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal... OMIM:102700
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Supernumerary nipple, Obesity, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic mi... OMIM:141750
Wilson Disease
Splenomegaly, Anemia, Failure to thrive, Increased body weight, Thrombocytopenia, Weight loss ORPHA:905
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Mirage Syndrome
Decreased body weight, Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411511
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Omphalocele, Overgrowth, Umbilical hernia ORPHA:254534
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent f... ORPHA:221139
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial inf... OMIM:608233
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe Epstein Barr virus infection, Recurrent mycoba... ORPHA:48435
Infantile Systemic Hyalinosis
Failure to thrive, Recurrent bacterial infections ORPHA:2176
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Small for gestational age, Thrombocytosis, S... ORPHA:84064
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Smith-Magenis Syndrome
Increased body weight, Synophrys OMIM:182290
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Neutropenia, Anemia, Failure to ... OMIM:260400
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorrhexis nodo... ORPHA:238468
Primary Pigmented Nodular Adrenocortical Disease
Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution, Spotty hyperpigmentation, A... ORPHA:189439
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Chromomycosis
Recurrent bacterial infections ORPHA:182
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Blackfan-Diamond Anemia
Leukopenia, Small for gestational age, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukem... ORPHA:124
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:98794
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Chédiak-Higashi Syndrome
Recurrent infections, Recurrent streptococcal infections, Recurrent bacterial infections, Recurre... ORPHA:167
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Weight loss ORPHA:99867
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent bacterial infections... ORPHA:51636
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Hypopigmentation of the skin, Partial albinism, Neutrop... ORPHA:79430
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Dorsocervical fat pad, Alopecia, Hirsutism, Increased body weight, Abdominal obesity ORPHA:189427
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Sotos Syndrome
Small nail, High anterior hairline, Overgrowth, Tall stature, Increased body weight OMIM:117550
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Failure to thrive, Abdominal obe... ORPHA:398079
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight ORPHA:263455
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Hypopigmentation of the skin, Obesity, Ir... OMIM:176270
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Small for gestational age, Severe cytomegalovirus infection, Recurren... OMIM:619573
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Flexion contracture, Hypopigmentation of the skin, Failure to thrive, A... ORPHA:398069
Immunodeficiency 47
Failure to thrive, Recurrent bacterial infections, Recurrent infections OMIM:300972
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Inguinal hernia, Anemia, Ocular albinism, Iris hypopigmentation ORPHA:2719
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Obesity, Small for gestational age ORPHA:86816
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Umbilical hernia, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Brittle Cornea Syndrome
Camptodactyly, Corneal scarring, Abnormality of hair pigmentation, Hernia ORPHA:90354
Insulinoma
Increased body weight ORPHA:97279
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Flexion contracture ORPHA:847
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Anemia, Failure to thrive, Abnormal erythrocyte enzyme level, Increased body weight ORPHA:264580
Mody
Large for gestational age, Elevated hemoglobin A1c, Obesity, Overweight ORPHA:552
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Hemolytic anemia, Microangiopathic hemolytic... ORPHA:244242
Shwachman-Diamond Syndrome
Failure to thrive, Recurrent bacterial infections, Sepsis, Recurrent viral infections ORPHA:811
Insulin-Resistance Syndrome Type B
Decreased body weight, Leukopenia, Abnormality of body weight, Alopecia, Increased body weight, H... ORPHA:2298
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Adrenocortical Carcinoma
Weight loss, Increased body weight, Hypertrichosis ORPHA:1501
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Small for gestational age, Hypopigmentation of the skin, Obesity, Failu... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Small for gestational age, Hypopigmentation of the skin, Obesity, Failu... ORPHA:98793
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Recurrent tonsillitis, Meningitis, Recurrent fungal infections, R... ORPHA:2968
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair, Abnormal dental enamel morphology ORPHA:96169
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Small for gestational age, Hypopigmentation of the skin, Obesity, Failu... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Small for gestational age, Hypopigmentation of the skin, Obesity, Failu... ORPHA:177901
Degcags Syndrome
Pancytopenia, Iron deficiency anemia, Anemia, Hypertrichosis, Leukopenia, Small for gestational a... OMIM:619488
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent infections, Increased body weight ORPHA:79240
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small for gestational age, Hypopigmentation of the skin, Obesity, Failu... ORPHA:398073
Cushing Disease
Leukocytosis, Decreased eosinophil count, Sparse scalp hair, Dorsocervical fat pad, Truncal obesi... ORPHA:96253
Menkes Disease
Hypopigmentation of hair, Woolly hair, Atypical scarring of skin, Hernia, Inguinal hernia, Chondr... ORPHA:565
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Small for gestational age ORPHA:330015
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive, Abdominal obesity ORPHA:739
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Hyperpigmentation of the skin, I... ORPHA:177907
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Recurrent bacterial infections ORPHA:79259
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Hypopigmentation of hair, Dry hair, Coarse hair ORPHA:1974
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Failure to thrive, Recurrent bacterial infections, Recurrent in... ORPHA:2273
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Obesity, Blue irides, Red hair ORPHA:280651
Lysinuric Protein Intolerance
Failure to thrive, Recurrent bacterial infections ORPHA:470
Cystinosis, Nephropathic
Hypopigmentation of hair, Failure to thrive in infancy, Hypopigmentation of the skin, Splenomegal... OMIM:219800
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Sparse scalp hair, Dorsocervical fat pad, Truncal obesi... ORPHA:99889
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology, Abnormal dental enamel morphology, Congeni... ORPHA:818
Carney Complex
Tall stature, Multiple cafe-au-lait spots, Dorsocervical fat pad, Spotty hyperpigmentation, Multi... ORPHA:1359
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia ORPHA:397612
Intellectual Developmental Disorder, Autosomal Recessive 41
OMIM:615637

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
Lymph node - hyperplasia Kptntm1a(EUCOMM)Wtsi HOM Early adult
Ovary - hyperplasia Kptntm1a(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 Kptn.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Kptntm1a(EUCOMM)Wtsi