Gene Summary

Name:
ganglioside-induced differentiation-associated-protein 2
Synonyms:
D3Ertd801e

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
decreased circulating serum albumin level Gdap2em1(IMPC)Wtsi HOM Early adult 4.01×10-09
absent pinna reflex Gdap2em1(IMPC)Wtsi HOM   Early adult 1.99×10-05
increased bone mineral density Gdap2em1(IMPC)Wtsi HOM Early adult 6.97×10-05
thrombocytosis Gdap2em1(IMPC)Wtsi HOM Early adult 6.82×10-06
decreased total body fat amount Gdap2em1(IMPC)Wtsi HOM Early adult 1.68×10-07
decreased circulating fructosamine level Gdap2em1(IMPC)Wtsi HOM Early adult 1.32×10-08
decreased circulating thyroxine level Gdap2em1(IMPC)Wtsi HOM Early adult 4.52×10-07
increased lean body mass Gdap2em1(IMPC)Wtsi HOM Early adult 4.29×10-06
decreased circulating amylase level Gdap2em1(IMPC)Wtsi HOM Early adult 1.85×10-05

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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.

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

Human diseases caused by Gdap2 mutations

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

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

The table below shows human diseases associated to Gdap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis OMIM:618369

The table below shows human diseases predicted to be associated to Gdap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ... OMIM:618963
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity, Congenital hypothyroidism ORPHA:88643
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Buschke-Ollendorff Syndrome
Connective tissue nevi, Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Salmonella osteomye... OMIM:209950
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Keloids, Limitation of joint mobility, Abnormal pelvis bone o... ORPHA:166119
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Failure to thrive, Increased bone mineral density OMIM:615198
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of inadequate productio... OMIM:617780
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Thrombocythemia 2
Thrombocytosis OMIM:601977
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Thrombocythemia 3
Thrombocytosis OMIM:614521
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con... OMIM:620366
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Hyperinsulinemia OMIM:618406
Melorheostosis
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... ORPHA:2485
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l... ORPHA:507
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bone, Sclerosis of... ORPHA:2905
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Joint hypermobility, Hyp... OMIM:619013
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Decreased circ... OMIM:608104
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Puberty and gonadal disorders, Decreased LDL cholesterol conc... ORPHA:79320
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Hypothyroidism, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E... OMIM:614034
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... ORPHA:232
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Dystonia, Elevated circulating alpha-fetoprotein ... OMIM:616267
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ... OMIM:122860
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased... OMIM:618347
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... ORPHA:210110
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalcemia, Splenomegaly, ... OMIM:259700
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Rickets, Failure to thrive, Hypocalcemia, Macrocytic anemia, Weight los... OMIM:212750
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Failure to thrive, Hypocholesterolemia, Tremor, Abnormal subcutaneou... OMIM:212065
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Anemia, Weight loss, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Joint stiffness, Leukopenia, Anemia, Thrombocytosis, Elevated cir... OMIM:615934
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia ORPHA:79319
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased total bilirubin, Increased circul... OMIM:603553
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Alg1-Cdg
Hypoalbuminemia, Limitation of joint mobility ORPHA:79327
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age OMIM:256300
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy OMIM:608776
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density ORPHA:37748
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... ORPHA:1667
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Eleva... ORPHA:247353
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... ORPHA:247585
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating leptin concentration, Abnormal circula... ORPHA:2298
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cells... OMIM:619652
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia OMIM:615085
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... OMIM:242150
Majeed Syndrome
Failure to thrive, Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomega... ORPHA:77297
Reni Syndrome
Hypoalbuminemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidism, Hypertriglycer... OMIM:617575
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic... OMIM:254900
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, ... ORPHA:94093
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive in infancy, Osteomye... ORPHA:37042
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morphology, Generalized... ORPHA:53
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... OMIM:259710
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypoca... ORPHA:36913
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Osteomyeli... ORPHA:36234
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Weight loss, Hypothyroidism, Anemia, Oste... OMIM:619487
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis... OMIM:615688
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas... OMIM:243150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... ORPHA:89842
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Weight loss, Iron defi... OMIM:301074
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Flexion contracture, Hepatosplenomegaly, Failure to thrive ORPHA:367
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis ORPHA:134
Wilson Disease
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hand tremor, Osteomalacia, Hemolytic anemia, Hy... OMIM:277900
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Hyperuricemia, ... OMIM:239000
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Flexion contrac... OMIM:617303
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, B lymphocytopenia, Decreas... ORPHA:79324
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Co... OMIM:617093
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Umbilical hernia, Increased bone mineral density, Decreased body weigh... OMIM:614856
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, Hypothyroidism, Throm... OMIM:615486
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Myelofibrosis ORPHA:729
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Anemia ORPHA:20
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ... OMIM:251880
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancy... OMIM:259720
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Abnormal erythrocyte morphology, Thrombocytosis, Joint hemorrhage, Au... ORPHA:324636
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enam... OMIM:610965
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Reduced subcutaneous adipose tissue, Anemia, Delayed pube... OMIM:131300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Calcinosis, Choreoathetosis, Ectopic ossification, Decreased response to growt... ORPHA:79443
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Thickened cortex of long bones, Transient hy... OMIM:127000
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Anemia, Weight loss, Leukocytosis ORPHA:67
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Pancytopenia, Inguinal he... OMIM:613658
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal... ORPHA:93284
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Brucellosis
Hip osteoarthritis, Septic arthritis, Failure to thrive, Sacroiliac arthritis, Osteomyelitis, Hyp... ORPHA:1304
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Werner Syndrome
Chondrocalcinosis, Hypogonadism, Slender build, Joint stiffness, Thyroid carcinoma, Type II diabe... ORPHA:902
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Sple... OMIM:612840
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Elevated circul... ORPHA:79444
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Syndromic Diarrhea
Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Thrombocyto... ORPHA:84064
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia OMIM:174900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Anemia, Craniosy... ORPHA:79396
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis ORPHA:71493
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental enamel morpholog... ORPHA:1782
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Pycnodysostosis
Coronal craniosynostosis, Decreased response to growth hormone stimulation test, Hepatosplenomega... ORPHA:763
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Weight loss,... ORPHA:85443
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster... OMIM:218030
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Umbilical hernia, Thyro... OMIM:235510
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Joint stiffness, Hepatosplenomegaly, Leukopenia, Hernia, Thrombocytopenia, Anemi... ORPHA:505248
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Camptodactyly, Dystonia, Small for... OMIM:251300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina... OMIM:619055
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ... ORPHA:3260
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly, Hiatus hernia, Failure to thrive OMIM:617729
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Gaucher Disease
Pancytopenia, Elevated circulating C-reactive protein concentration, Abnormal bone structure, Ost... ORPHA:355
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Abnormality of the thyroid gland, Sple... ORPHA:186
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con... OMIM:617156
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
12Q14 Microdeletion Syndrome
Failure to thrive, Abnormality of the spleen, Tremor, Osteopoikilosis, Diabetes mellitus ORPHA:94063
Kawasaki Disease
Hypoalbuminemia, Leukocytosis, Arthritis, Thrombocytosis, Elevated circulating C-reactive protein... ORPHA:2331
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Subcutaneous lipoma, Cachexia, Anemia, Refractory anemia ORPHA:79076
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Osteomyelitis, Decreased propor... OMIM:619381
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Type I diabetes mellitus, Hepatosplenomegaly, Splenomegaly, Weight l... ORPHA:171
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Decreased response to growth hormone stimulation test, ... OMIM:241410
Trichothiodystrophy
Osteopenia, Increased mean corpuscular hemoglobin concentration, Umbilical hernia, Absence of sub... ORPHA:33364
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Genera... ORPHA:79474
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Failure to thrive, Thrombocytosis OMIM:618213
Schwartz-Jampel Syndrome
Blepharospasm, Shoulder flexion contracture, Umbilical hernia, Joint stiffness, Inguinal hernia, ... ORPHA:800
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Cogan Syndrome
Anemia, Leukocytosis, Thrombocytosis ORPHA:1467
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Delayed puberty, Thrombocytope... ORPHA:77261
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, ... ORPHA:89936
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... OMIM:618476
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Failure to thrive, Splenomegaly ORPHA:35107
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Erdheim-Chester Disease
Osteomyelitis, Hypogonadotropic hypogonadism, Weight loss, Anemia, Increased bone mineral density... ORPHA:35687
Apparent Mineralocorticoid Excess
Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating renin level, ... ORPHA:320
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal dental enamel m... ORPHA:2658
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Desmosterolosis
Joint contracture of the hand, Abnormal circulating cholesterol concentration, Failure to thrive,... OMIM:602398
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Abnormal dental enamel morphology, Hypocalcemia, Congen... ORPHA:2323
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Carpal synostosis, Camptodactyly of finger, Omphal... ORPHA:90652
Raine Syndrome
Hypophosphatemia, Enamel hypoplasia, Subperiosteal bone formation, Increased bone mineral density... OMIM:259775
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Neoplasm of... ORPHA:231625
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Precocious puberty, Failure to thrive, Hypocholesterolemia, Epiphyseal stippling... OMIM:270400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Osteomyelitis, Thro... ORPHA:2968
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231632
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decrease... ORPHA:231580
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Pancytopenia, Leukopenia, Secondary hyperparathyroidism, Hypocalcemia, Elevate... ORPHA:2785
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia, Hypocal... OMIM:612301
Doors Syndrome
Congenital hypothyroidism, Sagittal craniosynostosis, Adrenal hyperplasia, Thrombocytosis ORPHA:79500
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Splenomegaly, Tremor, Hypophosphatemia, Osteopetrosis, Anemia, Craniosynostosis, Re... ORPHA:667
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele... OMIM:619534
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating prolactin concentration, El... ORPHA:79318
Williams Syndrome
Synostosis of joints, Osteopenia, Precocious puberty, Abnormal circulating lipid concentration, U... ORPHA:904
Primary Hyperoxaluria
Recurrent fractures, Hyperoxaluria, Failure to thrive, Generalized osteosclerosis ORPHA:416
Cleidocranial Dysplasia 1
Increased bone mineral density, Increased susceptibility to fractures, Enamel hypoplasia, Delayed... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral dens... OMIM:620558
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Cachexia, Splenomegaly ORPHA:75565
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Failure to thrive, Sclerosis of skull base, Thickened cortex of ... OMIM:269150
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis OMIM:618369

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 Gdap2

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 Gdap2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Gdap2em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gdap2em1(IMPC)Wtsi