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Gene: Trappc9 MGI:1923760

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Gene Summary

Name:
trafficking protein particle complex 9
Synonyms:
2900005P22Rik,  TRS130,  1810044A24Rik,  4632408O18Rik,  Nibp

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.12×10-21
increased mean platelet volume Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 6.82×10-06
increased CD11b-high dendritic cell number Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
impaired glucose tolerance Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.11×10-09
increased circulating sodium level Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.50×10-05
increased monocyte cell number Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased total body fat amount Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.59×10-24
decreased KLRG1-positive NK cell number Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased Ly6C high monocyte number Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral content Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 3.47×10-18
increased red blood cell distribution width Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 4.85×10-06
abnormal vibrissa morphology Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 6.98×10-05
increased Ly6C low monocyte number Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating insulin level Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 9.94×10-16
decreased grip strength Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 8.19×10-07
decreased mean corpuscular hemoglobin Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 8.24×10-10
increased fasting circulating glucose level Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 3.02×10-12
decreased gamma-delta T cell number Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased CD11b-low dendritic cell number Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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DSS Histology

Images

4 Images

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Anti-nuclear antibody assay

Images

6 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Trappc9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Trappc9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Trappc9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Trappc9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Trappc9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 70 images

Trappc9tm1a(EUCOMM)Wtsi
abnormal snout morphology, head, asymmetric snout, malocclusion, HOM, Male, WTSI
Trappc9tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, asymmetric snout, malocclusion, HOM, Male, WTSI
Trappc9tm1a(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Male, WTSI
Trappc9tm1a(EUCOMM)Wtsi
abnormal tail morphology, HOM, Male, WTSI

Human diseases caused by Trappc9 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 Trappc9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Microcephaly, Obesity, Multifocal cerebral white matter abnormalities, Congenital hypothyroidism,... ORPHA:352530
Intellectual Developmental Disorder, Autosomal Recessive 13
Mild microcephaly, Truncal obesity, Abnormal cerebral white matter morphology, Secondary microcep... OMIM:613192

The table below shows human diseases predicted to be associated to Trappc9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly OMIM:618010
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short attention span, Elevated circulating thyroid-stimulating hormone concentration, Abnormal ci... ORPHA:171706
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Astrocytosis, Inappropriate behavior,... OMIM:600795
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Impaired social interactions, Hyperglycemia ORPHA:329249
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Focal Cortical Dysplasia, Type Ii
Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Astrocytosis, Cognitive... OMIM:607341
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... OMIM:604213
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Slc35A1-Cdg
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina... OMIM:618276
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Diffuse spongiform leukoencephalopathy, Progressive forgetfulnes... ORPHA:282166
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Cerebral atrophy, Astrocytosis, Dementia, Cerebral cortex with spongiform chan... ORPHA:204
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... ORPHA:500166
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... ORPHA:486
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem... ORPHA:100070
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... OMIM:613845
Bleeding Disorder, Platelet-Type, 21
Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla... OMIM:617443
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... ORPHA:300573
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:616050
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Impaired social interactions, ... ORPHA:254531
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity, Microcephaly OMIM:309585
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Galactokinase Deficiency
Psychomotor deterioration, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadis... ORPHA:79237
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Gait ataxia, Choreoathetosis, Basal ganglia cysts, Astrocytosis, Gait disturbance, Atroph... ORPHA:225154
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Temple Syndrome
Relative macrocephaly, Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes o... OMIM:616222
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... OMIM:612526
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Aggressive behavior, Microcephaly, Inability to walk, Simplified gyral ... OMIM:618492
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi... ORPHA:276580
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly... ORPHA:276575
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... OMIM:620317
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Caudate atrophy, Hypertriglyceridemia, Reduced intraabdomina... ORPHA:363400
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Euphoria, Fr... OMIM:221770
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Secondary micro... OMIM:613668
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology... ORPHA:467166
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... OMIM:210250
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An... OMIM:224120
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hypertriglyceridemia, Cerebral atrophy OMIM:615924
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei... ORPHA:276608
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Huntington Disease
Cerebellar atrophy, Gait ataxia, Bradykinesia, Depression, Dementia, Gliosis OMIM:143100
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive impairment, Attention deficit hyperacti... ORPHA:369873
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Aggressive behavior, Depression, Gait ataxia, Gait disturbanc... OMIM:618369
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... ORPHA:391673
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Immunodeficiency 54
Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Failure to thrive, Reduc... OMIM:609981
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Corpus callosum atrophy, Leukoencephalopathy, Depression, Frontal lobe dementia, Bradykinesia, Ab... OMIM:221820
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Radial club hand,... OMIM:617053
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypopar... ORPHA:199299
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... OMIM:615771
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy OMIM:601705
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Cerebellar hypoplasia, Thin corpus callosum OMIM:620270
Lissencephaly 3
Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissence... OMIM:611603
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1 ORPHA:140941
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy, Agenesis o... OMIM:605899
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive impairm... OMIM:616267
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Stxbp1-Related Encephalopathy
Hyperactivity, Cerebral white matter atrophy, Ataxia, Inability to walk, Dysplastic corpus callosum ORPHA:599373
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Osteoporosis, Delayed thelarche,... OMIM:616033
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose ti... ORPHA:528
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, C... OMIM:619072
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... OMIM:226990
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level OMIM:618806
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, Cognitive impairment OMIM:615983
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Confusion, Aggressive beh... OMIM:607136
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Cog4-Cdg
Failure to thrive in infancy, Microcephaly, Frontotemporal cerebral atrophy, Irritability, Hypopl... ORPHA:263501
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis... ORPHA:1667
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Cach Syndrome
Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, Flexion contracture,... ORPHA:135
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Decreased response to growth hormone stimulation test, M... OMIM:300148
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... ORPHA:208441
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... ORPHA:255182
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Coasy Protein-Associated Neurodegeneration
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, E... ORPHA:397725
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy... OMIM:612541
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Limb ataxia, S... OMIM:617695
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so... ORPHA:300570
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuo... OMIM:601104
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Alopecia, Severe B lymphocytopenia, Decreased circulating cortisol level, Alopecia ... ORPHA:293978
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Demen... OMIM:618193
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Megalencephaly, Inability to walk, Astrocytosis, Difficulty walking, Slender build OMIM:611087
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... OMIM:619381
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Basal ganglia calcification, Depression, Dementia, Thalamic calcification... OMIM:615483
Alexander Disease Type I
Cachexia, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Abnormal cerebral whi... ORPHA:363717
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Thrombocytosis, Small for gestational age, Increased mean... ORPHA:84064
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Unsteady gait, Cessation of head growth, Secondary amenorrhea, E... OMIM:603896
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Abnormal circulating fatty-acid ... ORPHA:263455
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... ORPHA:35878
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
Obesity And Hypopigmentation
Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Secondary microcephaly, Peri... OMIM:619737
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly OMIM:604273
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio... ORPHA:171680
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Delirium, Co... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Cerebral atrophy OMIM:607250
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Mucolipidosis Iv
Cerebellar atrophy, Cerebral dysmyelination, Progressive neurologic deterioration, Microcephaly, ... OMIM:252650
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... ORPHA:435660
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Attention deficit hyperactivity disorder, Hypoplasia of the corpus... ORPHA:444002
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Extension of hair growth on temples t... ORPHA:79273
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic c... ORPHA:2524
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hypoplasia of the corpus callosum, Obesity, Cerebral atrophy, Microcephaly OMIM:616756
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity, Microcephaly OMIM:300471
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Global brain atrophy ORPHA:94124
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 104
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia OMIM:608971
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Osteopenia, Extramedullary hematopoiesis, Diabetes... ORPHA:231222
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Obesity, Hypoplasia of the corpus callosum, Men... OMIM:604360
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Gaba-Transaminase Deficiency
Lethargy, Agenesis of corpus callosum, Cerebellar hypoplasia, Tall stature OMIM:613163
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity, Macrocephaly OMIM:300209
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Thrombocytosis, Small for gestational age, Increased mean platelet volu... OMIM:222470
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impai... ORPHA:276183
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Alg8-Cdg
Hyponatremia, Small for gestational age, Abnormality of subcutaneous fat tissue, Anemia, Camptoda... ORPHA:79325
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... ORPHA:276
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism, Elevated circulating prist... OMIM:613724
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop... OMIM:618986
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder, Macrocephaly OMIM:613670
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,... OMIM:300957
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia OMIM:611209
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o... ORPHA:250972
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Foxg1 Syndrome
Pachygyria, Inability to walk, Bruxism, Choreoathetosis, Agenesis of corpus callosum, Progressive... ORPHA:561854
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Adiposis Dolorosa
Depression, Obesity, Painful subcutaneous lipomas OMIM:103200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hypoplasia of the pons, Midline brainstem cleft, Fusion o... OMIM:617542
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone... ORPHA:848
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Diabetes insipidus OMIM:304800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcephaly, Periventricular cysts, Hypoalbuminemia, Hypopituitarism, Hypo... OMIM:619013
Takenouchi-Kosaki Syndrome
Inguinal hernia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys... OMIM:616737
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Sparse hair, Failure to thrive, Reduced circulating growth hormon... OMIM:615508
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia OMIM:125800
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Progressive neurologic deterioration, Corpus callosum atrophy, Abnormal cerebellum morpho... OMIM:169500
Bardet-Biedl Syndrome 22
Microcephaly, Large for gestational age, Obesity, Hypogonadism, Macrocephaly OMIM:617119
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Microcephaly, Precocious puberty, Obesity, Ap... ORPHA:819
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ... ORPHA:100924
Oculoskeletodental Syndrome
Hypercalcemia, Dysplastic corpus callosum, Hypocalcemia, Abnormal thalamus morphology, Enamel hyp... ORPHA:557003
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Shyness, Overweight, Microcephaly, Difficulty walking, Hypopla... ORPHA:280763
Mehmo Syndrome
Diabetes mellitus, Obesity, Microcephaly ORPHA:85282
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Abnormal substantia nigra morphology, Ataxia, Overweight, Inability to walk... ORPHA:2822
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Congenital Muscular Dystrophy With Cerebellar Involvement
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Olivopontocerebellar ... ORPHA:370959
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count OMIM:242860
Neuroferritinopathy
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Subcortical dementia, Abno... ORPHA:157846
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... OMIM:615513
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity, Cognitive impairment OMIM:615993
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Perlman Syndrome
Inguinal hernia, Femoral hernia, Hyperinsulinemia, Macrocephaly, Tall stature ORPHA:2849
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Microcephaly, Obesity, Multifocal cerebral white matter abnormalities, Congenital hypothyroidism,... ORPHA:352530
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... ORPHA:95409
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g... OMIM:615095
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Microcephaly, Overweight, Depression, Gait disturbance, Gliosis, Abnor... ORPHA:457240
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... ORPHA:79277
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Reduced natural killer cell c... OMIM:620133
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Small for gestational age, Cerebral atrophy OMIM:619057
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb OMIM:618646
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno... ORPHA:101070
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... ORPHA:412
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Cerebellar vermis atrophy... ORPHA:163681
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Ravine Syndrome
Ataxia, Anorexia, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Ab... ORPHA:99852
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Bangstad Syndrome
Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating corti... ORPHA:1227
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Inability to walk, Pachygyria, Astrocytosis, Pontocerebe... ORPHA:258
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Reduced c... ORPHA:91355
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... OMIM:607330
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Fair hair, Albinism, Splenomegaly, Impaired ADP-induced platelet ... OMIM:608233
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Alopecia, Lipodystrophy, Insulin-resi... OMIM:248370
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive, Anemia ORPHA:97362
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Thrombocytopenia ORPHA:449285
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Depression, Dementia, Abnormal emotion, ... ORPHA:444490
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Progressive neurologic deterioration, Depression, Focal T2 hyperintense thalami... ORPHA:254881
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro... OMIM:615381
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa... OMIM:613153
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Microcephaly, Hypoalbuminemia, Adrenal insufficiency, Hypogon... OMIM:617575
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Temple Syndrome
Relative macrocephaly, Small for gestational age, Decreased response to growth hormone stimulatio... ORPHA:254516
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Microtriplication 11Q24.1
Hyperlipidemia, Obesity, Microcephaly ORPHA:289522
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Memory impairment, Basal ganglia calcification, Mental deterioration, Thalamic calcification OMIM:618317
Shigellosis
Hyponatremia, Hypoglycemia, Abscess, Failure to thrive in infancy, Leukocytosis, Abnormal blood i... ORPHA:810
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia ORPHA:223
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme... OMIM:208920
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder, Macrocephaly OMIM:618725
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity, Microcephaly OMIM:301900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Methanol Poisoning
Bilateral basal ganglia lesions, Confusion, Abnormal putamen morphology, Abnormal globus pallidus... ORPHA:31825
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism... ORPHA:90674
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Depression ORPHA:276630
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... OMIM:617718
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... OMIM:620001
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Basal ganglia calcification, Thalamic calcification OMIM:618824
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Hyperprolinemia, Focal T2 hyperintense thalamic lesion, Hyperalaninemia... OMIM:619046
Acquired Aneurysmal Subarachnoid Hemorrhage