Gene Summary

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

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 lean body mass Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.12×10-21
increased CD11b-high dendritic cell number Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased KLRG1-positive NK cell number Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased fasting circulating glucose level Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 3.02×10-12
impaired glucose tolerance Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.25×10-09
decreased mean corpuscular hemoglobin Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 8.24×10-10
decreased grip strength Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 8.19×10-07
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
decreased CD11b-low dendritic cell number Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased monocyte cell number Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased red blood cell distribution width Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 4.85×10-06
increased Ly6C low monocyte number Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased total body fat amount Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.59×10-24
abnormal vibrissa morphology Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 6.98×10-05
decreased gamma-delta T cell number Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating sodium level Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 2.50×10-05
increased circulating insulin level Trappc9tm1a(EUCOMM)Wtsi HOM Early adult 9.94×10-16
increased mean platelet volume Trappc9tm1a(EUCOMM)Wtsi HOM   Early adult 6.82×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Spleen Immunophenotyping

Images associated with FACS analysis

18 Images

X-ray

XRay Images Forepaw

13 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

DSS Histology

Images

4 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 70 images

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
Cerebellar hypoplasia, Obesity, Congenital hypothyroidism, Microcephaly, Cerebral cortical atroph... ORPHA:352530
Intellectual Developmental Disorder, Autosomal Recessive 13
Secondary microcephaly, Truncal obesity, Hypoplasia of the corpus callosum OMIM:613192
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Absent sep... ORPHA:88616

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
Memory impairment, Astrocytosis, Disinhibition, Inappropriate behavior, Mental deterioration, Emo... ORPHA:275864
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Memory impairment, Astrocytosis, Frontotemporal dementia,... ORPHA:100070
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly, Overfriendliness, Hypertri... OMIM:618010
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Astrocytosis, Disinhibition, Inappropriate behavior, Aggressive behavior, Apat... OMIM:600795
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Truncal obesity, Micr... ORPHA:181393
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Cognitive impairment, Cerebral cortex with spongiform changes, Memory impairmen... ORPHA:204
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis, Hemimegalencephaly, Cortical dysplasia, Focal cortical dyspla... OMIM:607341
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholestero... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Platelet Glycoprotein Iv Deficiency
Abnormality of the endocrine system, Giant platelets, Thrombocytopenia OMIM:608404
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Cerebellar atrophy, Inability to walk, Ataxia, Poor eye contact, Micr... OMIM:618276
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Microcephaly, Obesity, Emotional lability OMIM:309585
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Anxiety, Dementia, Bradykinesia, Progressive cerebellar ataxia, Gait ataxia, Apathy... ORPHA:282166
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Hypothyroidism, Cognitive impairment, Memory impairment, Hypercholesterolemia,... ORPHA:77296
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Delayed puberty, Hyperinsulinemia, Obesity, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Delayed puberty, Hyperinsulinemia, Obesity, Centr... ORPHA:71526
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the ... OMIM:604213
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Moto... ORPHA:412066
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Small for gestational ag... ORPHA:79237
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Relative macrocephaly, Over... OMIM:616222
Slc35A1-Cdg
Cellulitis, Giant platelets, Abnormal platelet granules, Neutropenia, Thrombocytopenia ORPHA:238459
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:179494
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal o... OMIM:618160
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Mental deterioration, Hypertriglyceridemia OMIM:615924
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Decreased circulating free fatty acid level, Inc... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Obesity, Abnormal cerebral white matter morphology, Cognitive impairment OMIM:614947
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Astrocytosis, Dementia, Degeneration of anterior horn cells, Corticospinal trac... OMIM:600333
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Cognitive impairment, Caudate atrophy, Insulin resistance, Hyperinsulinemia, Re... ORPHA:363400
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Failure to thrive, Diabetes mellitus, Hypomagnes... OMIM:613845
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Impaired social interactions, Hypercholesterolemia, Obesity, Poor eye contact, Precocious puberty... ORPHA:254531
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Cellulitis, Monocytosis, Leukemia, Osteopenia, Acute myeloid leukemia, Neutropenia,... ORPHA:486
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, Hyperinsulinemia, No social interaction, Obesity, Aggressive behavior ORPHA:329249
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... OMIM:616050
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Failure to thrive, Hyposegmentation of ... OMIM:169400
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Loss of gluteal subcutaneous adipos... ORPHA:280356
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pal... ORPHA:397725
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Monocytosis OMIM:610680
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Basal ganglia cysts, Astrocytosis, Loss of ability to walk, Atrophy/Degene... ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Inability to walk, Aggressive behavior, Hypoplasia... OMIM:618492
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Elevated circulating C-reactive ... OMIM:619644
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Mehmo Syndrome
Hypoglycemia, Delayed puberty, Small for gestational age, Obesity, Aggressive behavior, Microceph... OMIM:300148
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Generalized lipodystrophy,... OMIM:612526
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Aggre... OMIM:614963
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Hypopla... OMIM:619072
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... ORPHA:79644
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Microcephaly, Delayed puberty, Hyperinsulinemic hypogly... OMIM:616033
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Fasting hypoglycemia, Inc... ORPHA:276575
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Memory impairment, Dementia, T2 hypointense thalamus, Basal ganglia calcificatio... OMIM:618193
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Lymphopenia, Hypop... OMIM:612541
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Mental deterioration, Gait ataxia, Gliosis, Depression OMIM:618369
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Hypoglycemic seizures, Obesity, Adrenocorticotrop... OMIM:609734
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ataxia, Hypoplasia of the brainstem, Microcephaly, Lissencep... OMIM:611603
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Cognitive impairment, Abnormal corpus callosum morphology, Abnormal caudate n... ORPHA:300573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Decreased head circumference, Mild malformation of cortical developme... ORPHA:500166
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Goiter, Thrombocytopenia ORPHA:83601
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Microcephaly, Truncal obesity OMIM:300471
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Thrombocytopenia, Abnormal oral glucose tolerance, Fastin... ORPHA:2298
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia, Microcephaly, Irritability, Hypoplasia of the... ORPHA:263501
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Abnormal size of pituitary gland, Hyponatremia, Recurrent hypogly... ORPHA:293978
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Perianal abscess, Reduced natural killer... OMIM:618108
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Hyperprolinemia, Increased serum pyruvate, Focal T2 hyperintense thalamic ... OMIM:619046
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Small for gestational age, Neutropenia, Hyperglycemia, Thrombocytopen... ORPHA:391673
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypoplasia of the brainstem, Micr... OMIM:614039
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Caudate atrophy, Memory impairment, Disinhib... OMIM:221770
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Microcephaly, Cerebral atrophy, Obesity, Hypoplasia of the corpus callosum OMIM:616756
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, I... ORPHA:759
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hyperinsulinemia, Obesity, Glucose intolerance ORPHA:369873
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy OMIM:246650
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Hypoplasia of the corpus callosum ORPHA:444002
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Failure to thrive, Reduc... OMIM:609981
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin ... ORPHA:231226
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Narcolepsy Type 1
Obesity, Transient global amnesia ORPHA:2073
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Decreased body weight, Leukopenia, Hypoglycemia, Hypon... OMIM:617053
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Microcephaly, Macrocephaly, Hypogonadism OMIM:617119
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Failure to thrive in infancy, Decrease... OMIM:619510
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis, Inability to walk, Megalencephaly, Difficulty walking OMIM:611087
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Congenital Generalized Lipodystrophy
Lipodystrophy, Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hype... ORPHA:528
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia, Alopecia, Nail dystrophy OMIM:601705
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Type I diabetes mellitus, Normocytic anemia, Hyponatremia, Generalize... ORPHA:199299
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal circulating pyruvate family amino acid concentration, Abnormal corpus callosum morpholog... ORPHA:255182
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276556
Bardet-Biedl Syndrome 10
Cognitive impairment, Obesity, Hypogonadism OMIM:615987
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Bardet-Biedl Syndrome 5
Cognitive impairment, Obesity, Hypogonadism OMIM:615983
Cach Syndrome
Cerebral atrophy, Abnormal pons morphology, Cognitive impairment, Flexion contracture, Atrophy/De... ORPHA:135
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus, Hypertriglyc... OMIM:613877
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral ... ORPHA:401820
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Small for gestational age, Focal T2 hyperintense thalamic lesion OMIM:619057
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern, Lisse... OMIM:614019
Leukoencephalopathy With Vanishing White Matter
Primary amenorrhea, Memory impairment, Lethargy, Unsteady gait, Emotional lability, Secondary ame... OMIM:603896
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Wolcott-Rallison Syndrome
Hypothyroidism, Decreased body weight, Hyponatremia, Central hypothyroidism, Neutropenia, Iron de... ORPHA:1667
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Dementia, Bradykinesia, Ataxia, Aggressive behavior, Gait ataxia, ... OMIM:607136
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Nail dystrophy OMIM:618806
Mehmo Syndrome
Microcephaly, Obesity, Diabetes mellitus ORPHA:85282
Citrullinemia Type Ii
Cerebral edema, Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Elevate... ORPHA:247585
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Periventricular cysts, Hypopituitarism, Microcephaly, Hypoalbuminemia, Hypertrigl... OMIM:619013
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Increased subcutaneous truncal adipos... ORPHA:2457
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Cerebellar hypoplasia, Obesity, Congenital hypothyroidism, Microcephaly, Cerebral cortical atroph... ORPHA:352530
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Obesity, Mental deterioration, Degeneration of the lateral corticosp... OMIM:604360
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Obesity, Aggressive behavior, Self-mutilation, Thin corpus callosum OMIM:616521
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormality of the basal gan... ORPHA:99852
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Mental deterioration, Thalamic calcification OMIM:618824
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Type I... ORPHA:300570
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, L... ORPHA:435660
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Pick Disease Of Brain
Disinhibition, Emotional blunting, Inappropriate laughter, Apathy, Irritability, Gliosis, Frontot... OMIM:172700
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Mental deterioration, Microcephaly, Hypoalbu... OMIM:617575
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Glycine Encephalopathy
Agenesis of corpus callosum, Aggressive behavior, Lethargy, Irritability, Impulsivity OMIM:605899
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Loss of facial adipose tissu... OMIM:608612
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Hypothyroidism, Woolly hair, Small for gestational age, T... ORPHA:84064
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Microcephaly, Simplifi... OMIM:608716
Neuroferritinopathy
Cognitive impairment, Abnormality of the basal ganglia, Abnormal caudate nucleus morphology, Caud... ORPHA:157846
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Progressiv... OMIM:252650
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Cerebellar hypoplasia, Perisylvian polymicrogyria, Obesity, Microcephaly, Hypop... OMIM:618443
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Anxiety, Obesity, Aggressive behavior, Mac... OMIM:613670
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity, Precocious puberty, Ma... ORPHA:96184
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Adrenocortical hypoplasia, Hypert... OMIM:307030
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglycemia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormality of the thyroid gland, Self-mutilation, Hypertriglyceridemia, He... OMIM:182290
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Fryns Macrocephaly
Cerebral atrophy, Knee flexion contracture, Postnatal macrocephaly, Truncal obesity OMIM:600302
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Mental deterioration, Increased LDL cholesterol concentration, Decreased HD... OMIM:607616
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Astrocytosis, Dementia, Ataxia, Failure to thrive, Gliosis, Cerebral cortical... OMIM:203700
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased... ORPHA:79085
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, Elev... OMIM:615980
Smith-Magenis Syndrome
Hypothyroidism, Corticospinal tract hypoplasia, Failure to thrive in infancy, Hypercholesterolemi... ORPHA:819
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Hypercholesterolemia, Loss of truncal subcutaneous adipose tissu... OMIM:151660
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Tall stature, Agenesis of corpus callosum, Lethargy OMIM:613163
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Hypercalcemia, Enamel hypoplasia, Hypocalcemia, Abnormality of thalam... ORPHA:557003
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern, Hypop... OMIM:617090
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum morphology, Hypoplasia of the ... ORPHA:101070
Trichohepatoenteric Syndrome 1
Brittle hair, Woolly hair, Small for gestational age, Thrombocytosis, Hypermethioninemia, Fine ha... OMIM:222470
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Cognitive impairment, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimul... ORPHA:189427
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology, Hypergonadotropic hypogonadism OMIM:613724
Microtriplication 11Q24.1
Microcephaly, Obesity, Hyperlipidemia ORPHA:289522
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Anxiety, Abnormal cerebellum morphology, Truncal obesity, Microcephaly... OMIM:300957
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Hyperinsuli... OMIM:262190
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, An... ORPHA:100924
Bone Marrow Failure Syndrome 6
Hypothyroidism, Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence o... OMIM:618849
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Relative macrocephaly, Precocious pub... ORPHA:254516
Addison Disease
Hypoglycemia, Primary adrenal insufficiency, Hashimoto thyroiditis, Thymoma, Adrenal calcificatio... ORPHA:85138
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Cognitive impairment, Azoospermia, Testicular atrophy, Progressive cerebellar... ORPHA:276183
Borjeson-Forssman-Lehmann Syndrome
Microcephaly, Obesity, Delayed puberty OMIM:301900
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly... ORPHA:231222
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Weight loss, Adrenocortical car... ORPHA:1501
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Primary Pigmented Nodular Adrenocortical Disease
Cognitive impairment, Hyperlipidemia, Memory impairment, Abdominal obesity, Increased urinary cor... ORPHA:189439
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Cognitive impairment, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Choro... OMIM:612462
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Irritability, Abnormal cerebral cortex morphology, Abnormal brainstem m... ORPHA:411493
Lennox-Gastaut Syndrome
Abnormal brainstem morphology, Mental deterioration, Aggressive behavior, Personality disorder, F... ORPHA:2382
Beta-Thalassemia
Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Abnormality of iron homeostasis, ... ORPHA:848
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Hyperkalemia, Congenital hypothyroidism, Failure to thrive, Precociou... OMIM:614736
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Spherocytosis, He... ORPHA:71275
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Cellulitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil ... OMIM:618986
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Dementia, Apathy, Gliosis, Frontotempor... OMIM:105550
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous ... ORPHA:435651
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Global brain atrophy, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Alg8-Cdg
Hyponatremia, Small for gestational age, Anemia, Failure to thrive, Abnormality of subcutaneous f... ORPHA:79325
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Type II diabetes melli... OMIM:618620
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Methanol Poisoning
Abnormal corpus callosum morphology, Hyperlipidemia, Abnormal caudate nucleus morphology, Abnorma... ORPHA:31825
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Elevated circulating C-re... OMIM:619381
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Bardet-Biedl Syndrome 16
Cognitive impairment, Obesity, Hypogonadism OMIM:615993
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Progeria-Short Stature-Pigmented Nevi Syndrome
Cognitive impairment, Multiple joint contractures, Delayed puberty, Small for gestational age, De... ORPHA:2959
Obesity, Hyperphagia, And Developmental Delay
Obesity, Poor eye contact OMIM:613886
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Takenouchi-Kosaki Syndrome
Sparse eyebrow, Highly arched eyebrow, Inguinal hernia, Synophrys, Camptodactyly, Thrombocytopeni... OMIM:616737
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive OMIM:125800
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Depression, Ataxia, Astrocytosis OMIM:172500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hyperuricem... OMIM:203800
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Abnorm... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Cognitive impairment, Memory impairment, Hypercholesterolemia, Hypopituitarism, P... ORPHA:90065
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Anxiety, Overweight, Microcephaly, Self-mutilation, Gait disturbance, Glios... ORPHA:457240
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Decreased circulating T4 level, Hyperphosphatemia, Elevate... ORPHA:94086
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Increased C-peptide level, Decreased adiponectin level, Hyp... OMIM:615238
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Overweight, Shyness, Microcephaly, Cerebral cortical atrophy, Abnormal perive... ORPHA:280763
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Acute Adrenal Insufficiency
Hypoglycemia, Primary adrenal insufficiency, Normocytic anemia, Hyponatremia, Increased circulati... ORPHA:95409
Pontocerebellar Hypoplasia, Type 14
Delayed social development, Agenesis of corpus callosum, Cerebellar hypoplasia, Simplified gyral ... OMIM:619301
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cognitive impairment, Progressive language deterioration, Anxiety, Dementia, Mo... ORPHA:79264
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cognitive impairment, Dysmetria... ORPHA:98755
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Puberty and gonadal disorders, Obesity, Cerebral white matter atrophy, Microcep... ORPHA:464282
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Abnormal brainstem morphology, Cerebellar hypoplasia, Hypoplasia of ... ORPHA:370959
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Cognitive impairment, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Choro... OMIM:103580
Cholesteryl Ester Storage Disease
Adrenal calcification, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Retinopathy, Pigmentary, And Mental Retardation
Microcephaly, Hypogonadism, Truncal obesity OMIM:268050
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Short Stature, Dauber-Argente Type
Microcephaly, Fasting hyperinsulinemia OMIM:619489
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Osteopenia, Hyperinsulinemia OMIM:615363
Hermansky-Pudlak Syndrome 2
Fair hair, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:608233
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Failure to thrive, Pyrimidin... OMIM:258900
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Combined Oxidative Phosphorylation Defect Type 23
Cognitive impairment, Failure to thrive, Abnormal brainstem MRI signal intensity, Abnormal basal ... ORPHA:444013
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Cerebellar vermis atrophy, Obesity... ORPHA:163681
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Gait ataxia, Limb ataxia OMIM:610245
Intellectual Developmental Disorder, Autosomal Recessive 13
Secondary microcephaly, Truncal obesity, Hypoplasia of the corpus callosum OMIM:613192
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Perlman Syndrome
Hyperinsulinemia, Femoral hernia, Inguinal hernia, Macrocephaly, Tall stature ORPHA:2849
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypoglycemia, Abnormal size of pituitary gla... ORPHA:91355
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Microcephaly, Failure to thrive, Hypocholesterolemia, De... OMIM:616834
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Hypoplasia of the corpus callosum ORPHA:521390
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Hypercholesterolemia, Reduced radio... ORPHA:90674
Congenital Erythropoietic Porphyria
Scarring, Increased erythrocyte protoporphyrin concentration, Leukopenia, Osteopenia, Abnormal ci... ORPHA:79277
Familial Multiple Lipomatosis
Cerebral calcification, Lipodystrophy, Hyperlipidemia, Insulin resistance, Overgrowth, Increased ... ORPHA:199276
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Webb-Dattani Syndrome
Hypernatremia, Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituita... OMIM:615926
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Microcephaly, Truncal obesity ORPHA:85280
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Abnormal substantia nigra morphology, Memory impairment, Hyper... ORPHA:2822
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, T lymphocytopenia, Splenomegaly, Decreased proportion of class-switched memory B cell... OMIM:615513
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Foxg1 Syndrome
Impaired social interactions, Abnormal corpus callosum morphology, Cognitive impairment, Decrease... ORPHA:561854
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity, Anxiety OMIM:103200
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Baralle-Macken Syndrome
Microcephaly, Global brain atrophy, Obesity OMIM:619255
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Microcephaly, Obesity, Lipoma, Hypoplasia of the corpus callosum ORPHA:480907
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Failure to thrive, Chronic hemolytic anemia, Hemo... OMIM:618278
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Cognitive impairment, Decreased body weight, Astrocytosis, Pontocerebellar atroph... ORPHA:258
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia, Diabetes m... OMIM:606069
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hyponatremia, Hypopituitarism, Hypergonadotropic hypogo... ORPHA:95613
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Gómez-López-Hernández Syndrome
Cognitive impairment, Abnormal brainstem morphology, Ataxia, Abnormal cerebellum morphology, Cere... ORPHA:1532
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Dysbetalipoproteinemia
Hypothyroidism, Hypercholesterolemia, Obesity, Xanthelasma, Diabetes mellitus, Hypertriglyceridem... ORPHA:412
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simp... OMIM:619302
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatremia, Panhypopituitarism, Hash... ORPHA:95512
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Fragile X-Associated Tremor/Ataxia Syndrome
Dysmetria, Memory impairment, Abnormal brainstem morphology, Inertia, Anxiety, Dementia, Bradykin... ORPHA:93256
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Obesity, Cessation of head growth ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Mood swings, Relative macrocephaly, Aggressive behavior, Simplified gyral patt... OMIM:300354
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Osteoporosis, Acanthocytosis, Hyperbilirubinemia, Anisopoikil... OMIM:607330
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal brainstem morphology, Global... ORPHA:70474
Aceruloplasminemia
Increased circulating ferritin concentration, Cognitive impairment, Abnormal corpus striatum morp... ORPHA:48818
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Diffuse leukoencephalopathy, Ataxia, Abnormal cerebellum morphology, Impotence, Progressive neuro... OMIM:169500
Microcephaly, Amish Type
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Progressive microcephaly, Irritab... OMIM:607196
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Shigellosis
Hypoglycemia, Leukocytosis, Hyponatremia, Failure to thrive in infancy, Abnormal blood ion concen... ORPHA:810
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Hyponatremia, Hyperkalemia, Adrenal hypoplasia OMIM:240200
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Snakebite Envenomation
Hypopituitarism, Thrombocytopenia, Hyponatremia ORPHA:449285
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Tall stature, Hypopituitarism, ... ORPHA:300373
Combined Oxidative Phosphorylation Defect Type 7
Cognitive impairment, Failure to thrive, Abnormal brainstem MRI signal intensity, Hypoplasia of t... ORPHA:254930
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Erectile dysfunction, Abnormal mid... ORPHA:206448
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Decreased body weight, Hyperlipidemia, Memory im... ORPHA:444490
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Osteopenia, Insulin resistance, Hyperinsulinemia, Flexion contracture, Splenomegal... OMIM:613327
Immunodeficiency 61
Obesity OMIM:300310
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive ORPHA:223
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Elevated plasma citrulline, Hyperargininemia, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Flexion contracture, Insulin resistance, Diabetes mellitus, Hypertriglyceridemia, ... OMIM:615381
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Splenomegaly, Anemia, Cachexia ORPHA:3452
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, Gl... ORPHA:785
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Cerebellar atrophy, Decreased body weight, Agenesis of corpus callosu... OMIM:614833
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypopigmentation of hair, Hypoprotein... ORPHA:167
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Hypercholesterolemia, Dementia, Mental deterioration, Hypoalbuminemia OMIM:208920
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Emotional lability, Pituitary adenoma, Abdominal obesity, Glucose intoleran... OMIM:219090
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Seckel Syndrome 10
Glycosuria, Insulin resistance, Elevated circulating luteinizing hormone level, Microcephaly, Ele... OMIM:617253
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Macrocephaly, Obesity OMIM:611936
Corticosterone Methyloxidase Type Ii Deficiency