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Gene: Dock9 MGI:106321

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Gene Summary

Name:
dedicator of cytokinesis 9
Synonyms:
D14Wsu89e,  B230309H04Rik,  Zizimin1

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 bilirubin level Dock9em1(IMPC)J HOM Early adult 4.59×10-05
abnormal auditory brainstem response Dock9em1(IMPC)J HOM   Early adult 8.62×10-05
abnormal cholesterol homeostasis Dock9em1(IMPC)J HOM   Early adult 2.10×10-05
increased lean body mass Dock9em1(IMPC)J HOM Early adult 2.77×10-08
decreased total body fat amount Dock9em1(IMPC)J HOM Early adult 5.92×10-07
increased bone mineral density Dock9em1(IMPC)J HOM   Early adult 4.08×10-05
increased mean corpuscular hemoglobin Dock9em1(IMPC)J HOM Early adult 4.97×10-05
increased bone mineral content Dock9em1(IMPC)J HOM Early adult 3.67×10-06
increased mean corpuscular volume Dock9em1(IMPC)J HOM   Early adult 8.09×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

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Human diseases caused by Dock9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dock9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Buschke-Ollendorff Syndrome
Connective tissue nevi, Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... OMIM:300946
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Failure to thrive, Increased bone mineral density OMIM:615198
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, Genera... ORPHA:3416
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Papillede... OMIM:620366
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia, Craniosyno... OMIM:241520
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Hearing impairment, Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... ORPHA:232
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Optic disc pallor, Osteopetrosis, Thrombocytopenia,... OMIM:611490
Van Buchem Disease
Hearing impairment, Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral ... OMIM:239100
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G... ORPHA:2790
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Sclerosteosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearin... ORPHA:3152
Intermediate Osteopetrosis
Cortical sclerosis, Cranial nerve compression, Osteomyelitis, Hepatosplenomegaly, Increased susce... ORPHA:210110
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Keloids, Limitation of joint mobility, Abnormal pelvis bone o... ORPHA:166119
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Hearing impairment, Pancytopenia, Macrocyti... ORPHA:2169
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Joint stiffness, Increased bone density with cystic... OMIM:136300
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen... OMIM:620010
Melorheostosis
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... ORPHA:2485
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Hearing impairment ORPHA:79234
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Bilateral sensorineural hearing impairment, Increased HbA2 hemoglobin, ... OMIM:616943
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Tracheomalacia, Failure to thrive, Persistence of hemoglobin F... OMIM:612561
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Hearing impairment, Pathologic fracture, Oste... OMIM:259700
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Majeed Syndrome
Failure to thrive, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Erythroid hyperplasia, A... OMIM:609628
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Optic atrophy, Craniofacial osteosclerosis, Hearing impairment, Cortic... OMIM:122860
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Facial p... OMIM:615085
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corp... OMIM:611590
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... OMIM:235700
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Hearing impairment, Atresia of the external audito... OMIM:612562
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Thickened cortex of long bones, Generalized osteosclerosis, Osteop... OMIM:607634
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po... OMIM:615234
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Albers-Schönberg Osteopetrosis
Optic atrophy, Mandibular osteomyelitis, Hearing impairment, Osteomyelitis, Hypocalcemia, Abnorma... ORPHA:53
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density ORPHA:37748
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Cranial ... OMIM:259710
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Infantile Sialic Acid Storage Disease
Osteopenia, Failure to thrive, Splenomegaly, Vacuolated lymphocytes, Conjugated hyperbilirubinemia OMIM:269920
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Facial paralysis, Fractures of the long bones, Gene... OMIM:166600
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Shwachman-Diamond Syndrome
Aplastic anemia, Hearing impairment, Pancytopenia, Increased serum bile acid concentration, Impai... ORPHA:811
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo... ORPHA:231222
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hyperthreoninemi... ORPHA:247598
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum bile... ORPHA:79303
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Extramedullary hematopoiesis, Cranial hyper... OMIM:259720
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... OMIM:266200
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticu... OMIM:232800
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Camurati-Engelmann Disease
Hearing impairment, Cranial nerve compression, Slender build, Sclerosis of skull base, Optic nerv... OMIM:131300
Majeed Syndrome
Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur... ORPHA:77297
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilir... OMIM:607765
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hyperbilirubinemia, Hernia, Hearing impairment ORPHA:101009
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolyti... ORPHA:288
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Failure to thri... OMIM:614300
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,... OMIM:600501
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Sensorineural hearing impairment, Thicke... OMIM:144750
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia, Small for gestational age ORPHA:3363
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Hearing impairment, Increased bone mineral dens... OMIM:239000
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia ORPHA:95717
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Failure to thrive, Cong... ORPHA:73272
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Dysosteosclerosis
Craniofacial hyperostosis, Optic atrophy, Coarse metaphyseal trabecularization, Hearing impairmen... ORPHA:1782
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Hearing impairment, Umbilical hernia, Increased bone mineral density, ... OMIM:614856
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:235555
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent otitis media, Increased mean corpuscular v... OMIM:619774
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Abnormal cranial nerve morphology, Sens... ORPHA:1522
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Optic disc pa... OMIM:616959
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hearing impairment, Increased serum bile acid concentration OMIM:243300
Fetal Cytomegalovirus Syndrome
Optic atrophy, Splenomegaly, Sensorineural hearing impairment, Thrombocytopenia, Anemia, Conjugat... ORPHA:294
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Hearing impairment, Protruding ear, Thrombocytopenia, Chronic ... ORPHA:261250
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp... OMIM:127000
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Hearing impairment, Increased bone mine... ORPHA:90650
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Fanconi-Bickel Syndrome
Hypouricemia, Rickets, Failure to thrive, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous ... OMIM:227810
Diastrophic Dysplasia
Hearing impairment, Camptodactyly of finger, Low-set, posteriorly rotated ears, Large earlobe, Jo... ORPHA:628
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Hearing impairment, Osteolysis OMIM:167250
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... ORPHA:124
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ... ORPHA:231226
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Graft Versus Host Disease
Hemophagocytosis, Failure to thrive, Fasciitis, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren... ORPHA:39812
Beta-Thalassemia Major
Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ... ORPHA:231214
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Congenital sensorineural hearing impairment, Decreased body weight, Osteopetrosis, Increased bone... OMIM:617306
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Umbilical hernia, Sensorineural hearing impairment, Abnormal circula... ORPHA:95716
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Glycogen Storage Disease Xii
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... OMIM:611881
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia ORPHA:95715
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Abnormal cortical b... OMIM:614886
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia, Lymphoc... ORPHA:1667
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compression, ... OMIM:259730
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal... ORPHA:93284
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca... OMIM:613280
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Congenital Erythropoietic Porphyria
Osteopenia, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Abnormal circulat... ORPHA:79277
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Failure to thrive, Hearing impairment, Thrombocytopenia, Conjugated hyperbilirubine... OMIM:208085
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Anisopoikiloc... OMIM:607330
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblast... OMIM:557000
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia, Cupped ear, Sensorineural hearing impairment OMIM:619075
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... ORPHA:3240
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Poems Syndrome
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega... ORPHA:2905
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Wilson Disease
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Osteomalacia, Decreased nerve conduction veloci... OMIM:277900
Cystic Echinococcosis
Hyperbilirubinemia, Splenic cyst, Eosinophilia, Weight loss, Bone cyst ORPHA:400
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Coarse metaphyseal trabecularization, Conductive hearing impairment, Facial hyperos... ORPHA:2780
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:601847
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Failure to thrive, Decreased serum bile acid concentration OMIM:214950
Castleman Disease
Weight loss, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Anemia, Mye... ORPHA:160
Pycnodysostosis
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Mild conduct... ORPHA:763
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... OMIM:618278
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Sensorineural hearing impairment, Joint hyper... OMIM:617093
Werner Syndrome
Chondrocalcinosis, Slender build, Joint stiffness, Lipodystrophy, Osteoporosis, Lipoatrophy, Incr... ORPHA:902
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Arthrogryposis multiplex congenita, Failure to thrive, Conjugated hyperbilirubinemia OMIM:613404
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Fumarase Deficiency
Optic atrophy, Failure to thrive, Polycythemia, Hyperbilirubinemia, Reduced subcutaneous adipose ... OMIM:606812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatini... OMIM:608836
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytope... ORPHA:464321
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Pancytopenia, Inguinal he... OMIM:613658
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ... OMIM:251880
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Trichothiodystrophy
Osteopenia, Increased mean corpuscular hemoglobin concentration, Umbilical hernia, Absence of sub... ORPHA:33364
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Dysosteosclerosis
Osteopenia, Optic atrophy, Facial paralysis, Hearing impairment, Sclerosis of hand bone, Sclerosi... OMIM:224300
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Failure to thrive, Microcytic anemia, Low-set... ORPHA:98791
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Desmosterolosis
Low-set ears, Failure to thrive, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, ... ORPHA:35107
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Gaucher Disease
Hearing impairment, Pancytopenia, Elevated circulating C-reactive protein concentration, Abnormal... ORPHA:355
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Conjugated hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-feto... OMIM:617049
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Failure to thrive, Hearing impairment, Abnormality of peri... ORPHA:90321
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Optic atrophy, Abnormal helix morphology, Increased circulating very long-chain fat... OMIM:614866
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Splenomegaly, Femur ... OMIM:612301
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi... OMIM:616881
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... ORPHA:186
Erdheim-Chester Disease
Osteomyelitis, Xanthelasma, Weight loss, Anemia, Increased bone mineral density, Osteolysis ORPHA:35687
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hemolytic anemia OMIM:608885
Desmosterolosis
Low-set ears, Joint contracture of the hand, Cupped ear, Failure to thrive, Abnormal circulating ... OMIM:602398
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Small for gestational age, Increased serum bile acid concentration ORPHA:69665
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, EEG with spike-wave complexes, Hypsarrhythmia, EEG with changes in v... ORPHA:95232
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Rickets, Sensorineural hearing impairment, Generalized ... ORPHA:89936
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con... OMIM:617156
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... ORPHA:3008
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetr... OMIM:618476
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Failure to thrive, Hearing impairment, Carpal synostosi... ORPHA:90652
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Thrombocytopenia, Anemia, Incr... ORPHA:77261
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat... ORPHA:90673
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Raine Syndrome
Low-set ears, Protruding ear, Posteriorly rotated ears, Hypophosphatemia, Enamel hypoplasia, Subp... OMIM:259775
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, ... ORPHA:168577
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Microtia, Absent antihelix ORPHA:293939
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal dental enamel m... ORPHA:2658
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Sensorineura... ORPHA:79443
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior ... OMIM:260400
Degcags Syndrome
Low-set ears, Osteopenia, Failure to thrive, Tracheomalacia, Hearing impairment, Hepatosplenomega... OMIM:619488
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia, Anem... ORPHA:163979
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:133540
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis, Failure to thrive ORPHA:94063
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Umbilical hernia, Low-set, posteriorly rotated ears, Joint stiffnes... ORPHA:800
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Autoimmune Hepatitis
Splenomegaly, Arthritis, Increased total bilirubin ORPHA:2137
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypop... ORPHA:79444
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Post... OMIM:241410
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Splenomegaly, Otitis media, Hypocalcemia, Hypophosph... ORPHA:667
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Cupped ear, Persistence of hemoglobin F, Joint hypermobility, Overfolded helix OMIM:617101
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili... ORPHA:567983
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:216400
Isolated Biliary Atresia
Failure to thrive, Xanthelasma, Splenomegaly, Severe failure to thrive, Conjugated hyperbilirubin... ORPHA:30391
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, I... ORPHA:330015
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Leukocytosis, Leukopenia, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Abnormal dental enamel morphology, Low-set, posteriorly... ORPHA:2323
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... ORPHA:206436
Hardikar Syndrome
Failure to thrive, Umbilical hernia, Mild hearing impairment, Hepatosplenomegaly, Hypersplenism, ... OMIM:301068
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Conductive hearing impairment, Failure to thrive, Cranial nerve compression, Pancy... ORPHA:2785
Hyperoxaluria, Primary, Type I
Optic atrophy, Pathologic fracture, Hyperoxaluria, Increased bone mineral density, Optic neuropathy OMIM:259900
Liver Disease, Severe Congenital
Failure to thrive, Umbilical hernia, Recurrent otitis media, Increased circulating ferritin conce... OMIM:619991
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia, Overweight, Persistence of hemoglobin F OMIM:619769
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Elevat... OMIM:620376
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Cranioectodermal Dysplasia 2
Low-set ears, Polysplenia, Hyperbilirubinemia, Inguinal hernia, Splenomegaly, Joint hypermobility... OMIM:613610
Atypical Werner Syndrome
Chondrocalcinosis, Limitation of joint mobility, Failure to thrive, Sclerosis of hand bone, Gener... ORPHA:79474
Ogden Syndrome
Low-set ears, Polycythemia, Umbilical hernia, Recurrent otitis media, Hyperbilirubinemia, Inguina... OMIM:300855
Reynolds Syndrome
Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Steatorrhea OMIM:613471
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cupped ear, Failure to thrive, Hearing impairment, Osteomyelitis, Obesity, Hyperbilirubinemia, Ot... OMIM:619475
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Caroli Disease
Weight loss, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Senior-Boichis Syndrome
Anemia, Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
Primary Hyperoxaluria
Optic atrophy, Failure to thrive, Hyperoxaluria, Generalized osteosclerosis, Optic disc pallor, R... ORPHA:416
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pu... ORPHA:99867
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Hearing impairment, Neutropenia, Macrotia ORPHA:163956
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Joint stiffness, Abnormal hemoglobin, Sensorineural hearing impairment, Aganglioni... ORPHA:847
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Progressive sensorineural hearing impairme... OMIM:620186
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Low-set ears, Shoulder flexion contracture, Failure to thrive, E... OMIM:210710
Cleidocranial Dysplasia 1
Hearing impairment, Delayed pubic bone ossification, Increased susceptibility to fractures, Ename... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density, Low-set ears ORPHA:50945
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Osteopenia, Hypoalbuminemia, Failure to thrive, Hearing impairment, Increased circu... OMIM:619534
Sclerosteosis 1
Optic atrophy, Hearing impairment, Facial palsy secondary to cranial hyperostosis, Sclerotic scap... OMIM:269500
Fructose Intolerance, Hereditary
Failure to thrive, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Conjugated hyperbilirubinemia OMIM:208500
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia OMIM:218700
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... ORPHA:401973
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, HbH hemoglobin, Umbilical hernia, Sensorineural hearing impairment, Hypochromic mic... OMIM:301040
Neurooculorenal Syndrome
Mixed hearing impairment, Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Se... OMIM:620305
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... ORPHA:99829
Williams Syndrome
Synostosis of joints, Osteopenia, Abnormal circulating lipid concentration, Umbilical hernia, Abn... ORPHA:904
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density OMIM:620558
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Increased density of long bones, Failure to thrive, Sclerosis of skull base, Thicke... OMIM:269150
Alkaptonuria
Joint stiffness, Reduced bone mineral density, Increased susceptibility to fractures, Methemoglob... ORPHA:56
Congenital Disorder Of Glycosylation, Type Iim
Hypsarrhythmia, Neonatal hyperbilirubinemia, Enamel hypoplasia OMIM:300896
Johanson-Blizzard Syndrome
Failure to thrive, Splenomegaly, Hypocalcemia, Sensorineural hearing impairment, Joint hypermobil... OMIM:243800

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 Dock9

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 Dock9.

No publications found that use IMPC mice or data for Dock9.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dock9em1(IMPC)J Exon Deletion Mice

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