Gene Summary

Name:
DENN domain containing 10
Synonyms:
1810055E12Rik,  Fam45a

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 heart morphology Dennd10em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Dennd10em1(IMPC)Ccpcz HOM Early adult 2.70×10-05
short tibia Dennd10em1(IMPC)Ccpcz HOM Early adult 2.49×10-05
abnormal spleen morphology Dennd10em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Dennd10em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Dennd10em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Dennd10 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 Dennd10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb... ORPHA:1972
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Ethanolaminosis
Cardiomegaly OMIM:227150
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... OMIM:127300
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl... ORPHA:1802
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr... OMIM:616589
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... OMIM:615631
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... OMIM:268305
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greater sciatic notch... OMIM:602271
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Infantile Sialic Acid Storage Disease
Abnormal foot morphology, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocyt... OMIM:269920
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology, Splenomegaly ORPHA:2204
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Absent radius, Fibular aplas... ORPHA:3320
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b... ORPHA:56305
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Congenital hip dislocation, Joint contracture of the hand, Cardiomyopath... OMIM:300280
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, ... OMIM:610539
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Roifman Syndrome
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventricular septal defect,... OMIM:616651
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Talipes equinovarus, Short tibia, Short femur OMIM:620306
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Short humerus, Patent foramen ovale, Short ribs, Talipes equ... OMIM:607143
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o... ORPHA:3035
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... OMIM:164900
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... OMIM:227270
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... OMIM:228000
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Lim... OMIM:258315
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... OMIM:256550
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cantu Syndrome
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... OMIM:239850
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Brachydactyly, Right a... OMIM:616028
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Hepatic fibrosis, Postaxial polysyndactyly of foot, Preaxial hand polyd... OMIM:263520
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, ... OMIM:209950
Shox-Related Short Stature
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Genu valgum, Splenomegaly, Ventricular septal defect, Short ribs, ... OMIM:615630
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly, Talipes equinovarus, Hepatomegaly OMIM:616719
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Ascites, Micrognathia, Splenomegaly, Anemia ORPHA:1046
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Mulibrey Nanism
Ascites, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Thickened cortex ... OMIM:253250
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Micrognathia, Absent gallbladder, Complet... OMIM:617925
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Tibial Hemimelia
Absent tibia OMIM:275220
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Clinodactyly of the 5th finger, Splenomegaly, Prominent fingertip pads OMIM:615637
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... OMIM:616300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Opsismodysplasia
Broad thumb, Abnormal epiphysis morphology, Splenomegaly, Hypoplastic vertebral bodies, Brachydac... ORPHA:2746
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Micrognathia, Femoral bowing, Ventricular septal defect, Cardiomegaly, Talip... OMIM:617022
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly OMIM:602390
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ascites, Micrognathia... OMIM:616897
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Pes cavus, Splenomegaly, Mitral stenosis, Cardiomegaly,... OMIM:231005
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Knee dislocation, Elb... OMIM:108721
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carc... OMIM:235200
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Congenital Rubella Syndrome
Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome... ORPHA:290
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Abnormality of the epiphysis of the femoral head, Cholestasis, Abnorma... OMIM:618641
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Genu valgum, Mitral valve prolapse, Bicuspid aortic valve, Tal... OMIM:245600
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... OMIM:274000
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Abnormality ... OMIM:618652
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... ORPHA:158687
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Bi... OMIM:306955
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Refsum Disease, Classic
Cardiomegaly, Short fourth metatarsal, Pes cavus, Cardiomyopathy OMIM:266500
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Hypertrophic cardiomyopa... ORPHA:1517
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn... OMIM:601005
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Amyloidosis, Hereditary Systemic 2
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Lymphan... ORPHA:464329
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Gaucher Disease, Type I
Aortic valve stenosis, Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersplenism, Spl... OMIM:230800
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Complete atrio... OMIM:236680
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Cardiomegaly, Abnormal a... ORPHA:324410
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites OMIM:614702
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Omenn Syndrome
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymp... ORPHA:39041
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metatarsal cortices, Thin metacarpal cortices, Small hypothenar eminence, Slender long bone,... ORPHA:2463
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Abnormal metacarpophalangeal joint morphology,... ORPHA:465508
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the hand, ... OMIM:228520
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap... OMIM:108720
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Genu valgum, Splenomegaly, Abnormal metaph... ORPHA:583
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, Hypoplastic pelv... OMIM:208500
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Harderoporphyria
Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Hemolytic anemia OMIM:618892
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta... ORPHA:824
Refsum Disease
Abnormal epiphysis morphology, Cardiomyopathy, Abnormal foot morphology, Pes cavus, Splenomegaly,... ORPHA:773
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Clubbing OMIM:612387
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... OMIM:606003
Occipital Horn Syndrome
Cholestasis, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Jaun... ORPHA:198
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Limited knee flexion/... ORPHA:268
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Kagami-Ogata Syndrome
Micrognathia, Splenomegaly, Ventricular septal defect, Coxa valga, Limb undergrowth, Atrial septa... OMIM:608149
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Seckel Syndrome 1
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape... OMIM:210600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Mi... OMIM:252500
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:85414
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... ORPHA:398124
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Short fourth metatarsal, Single transverse palmar crease, Cardiom... OMIM:618143
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:603909
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Beck-Fahrner Syndrome
Cardiomegaly, Pes planus, Hip dysplasia, Ventricular septal defect OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Dilated cardiomyopathy, Abnormal foot morphology, Elbow flexion contracture, Knee fl... OMIM:608836
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p... OMIM:277170
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Cardiomyopath... ORPHA:289157
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Cirrhotic Cardiomyopathy
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice... ORPHA:57777
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis ORPHA:42
Mogs-Cdg
Hepatosplenomegaly, Overlapping fingers, Cardiomegaly, Left ventricular hypertrophy, Atrial septa... ORPHA:79330
Wolman Disease
Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231214
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Ascites, Pancytopen... ORPHA:77259
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Absent Achilles reflex, Acanthocytosis, Splenomegaly, Are... OMIM:300842
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Abnormal hip bone morphology, Epiphyseal stippling, Splenomegaly, Diaphyseal ... ORPHA:584
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Periportal fibrosis, Short toe, Short finger, Ascites, Bowing of the arm, S... OMIM:269860
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Joint contracture of the hand, Hypoplastic iliac wing, Fibular ... OMIM:260660
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... OMIM:211350
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Micrognathia, Ventricular septal defect, Aplasia of ... ORPHA:3472
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormal diaphysis morp... ORPHA:1328
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly OMIM:235555
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Micrognathia... OMIM:200980
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Sandal gap, Lower limb asymmetry, Splenomegaly OMIM:612918
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Abnormal heart val... ORPHA:90652
Gaucher Disease, Perinatal Lethal
Ascites, Hepatosplenomegaly, Micrognathia, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, ... OMIM:608013
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... OMIM:607765
Budd-Chiari Syndrome
Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ... ORPHA:131
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... ORPHA:231222
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Micrognathia, Hepatic steatosis, Ven... OMIM:614921
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Secundum atrial septal defect, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukop... OMIM:612541
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly OMIM:617591
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Fucosidosis
Absent/hypoplastic paranasal sinuses, Splenomegaly, Cardiomegaly, Absent/hypoplastic coccyx, Hepa... OMIM:230000
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pes cavus, Cardiomegaly... OMIM:300257
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... ORPHA:3384
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Short distal phalanx of finger, Rhizomelia, Hepatic fib... OMIM:218330
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Abnormality of the s... ORPHA:565612
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Hip dysplasia ORPHA:30
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Adenoidi... ORPHA:581
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Atrioventricular canal defect, Splenomegaly, Short ribs, Postaxial polydac... OMIM:617088
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Clubbing of fingers, Elbow flexio... OMIM:256040
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Expanded metatarsal... OMIM:182250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Growth arrest lines, Abnormal pelvic girdle bone morphology, Severe B lymphocytopenia, Lymphopeni... OMIM:102700
Charge Syndrome
Lymphopenia, Micrognathia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Abs... OMIM:214800
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... OMIM:261740
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl... ORPHA:288
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal myocardium morph... ORPHA:228308
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Micrognathia, Cardiomegaly, Abnormal cardiac septum morphology,... ORPHA:97297
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ... ORPHA:77261
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Microretrognathia, Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegal... OMIM:620371
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Incr... OMIM:620376
Ogden Syndrome
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Jaundice, M... OMIM:300855
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Abetalipoproteinemia
Hepatic fibrosis, Pes cavus, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Cardiomegaly, Ta... ORPHA:14
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233710
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... ORPHA:567983
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Fibular aplasia, Micrognathia, Ventricular septal defect, Arachnod... OMIM:300373
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233690
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hepatic steatosis, Ventr... OMIM:619991
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Pes planus, Arachnodactyly ORPHA:91387
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Hyperlipoproteinemia, Type Id
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Broad foot, Ventricular septal defect, Talipes equinovarus, 2-3 finger syndactyly, H... OMIM:312870
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... ORPHA:75565
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Micrognathia, Ventricular septal defect ORPHA:96191
Kinsship Syndrome
Micrognathia, Single transverse palmar crease, Fibular hypoplasia, Polydactyly, Coxa valga, Pes p... OMIM:619297
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Enlarged kidney OMIM:130650
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega... ORPHA:51
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Williams Syndrome
Micrognathia, Genu valgum, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valv... ORPHA:904
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... ORPHA:116
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Hypoplasia of proximal radius, Abnormal heart morphology, Micrognathia, Patent forame... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Abnormal hip joint morphology, Abnormality of the knee, Cardiom... ORPHA:51608

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 Dennd10

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 Dennd10.

No publications found that use IMPC mice or data for Dennd10.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dennd10tm46173(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dennd10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dennd10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dennd10em1(IMPC)Ccpcz Exon Deletion Mice

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