banner
Genes Phenotypes Help, News, Blog

Gene: Cidec MGI:95585

Log in to follow

Gene Summary

Name:
cell death-inducing DFFA-like effector c
Synonyms:
Fsp27,  CIDE-3,  CIDE-3alpha

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Cidectm1b(EUCOMM)Wtsi HOM Early adult 1.27×10-05
decreased circulating alkaline phosphatase level Cidectm1b(EUCOMM)Wtsi HOM Early adult 8.81×10-05
increased lean body mass Cidectm1b(EUCOMM)Wtsi HOM   Early adult 3.76×10-05
abnormal optic disk morphology Cidectm1b(EUCOMM)Wtsi HOM   Early adult 2.81×10-05
abnormal auditory brainstem response Cidectm1b(EUCOMM)Wtsi HOM   Early adult 8.64×10-05
decreased total body fat amount Cidectm1b(EUCOMM)Wtsi HOM Early adult 4.86×10-05
increased fasting circulating glucose level Cidectm1b(EUCOMM)Wtsi HOM   Early adult 4.10×10-06
increased mean corpuscular volume Cidectm1b(EUCOMM)Wtsi HOM Early adult 6.94×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Poly... ORPHA:71529
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Sensorineural hearing impairmen... OMIM:614296
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Hearing impairment OMIM:617717
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Sple... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, EEG abnorm... OMIM:617021
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607250
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Olivopontocerebellar Atrophy-Deafness Syndrome
EEG abnormality, Optic atrophy, Chorioretinal coloboma, Hearing impairment ORPHA:2732
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
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy, Claw hand deformity OMIM:618511
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy, Hearing impairment OMIM:165300
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Increased serum lepti... OMIM:617885
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, EEG with generalized polyspikes OMIM:614706
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal diabetes, Reactive hypoglyce... ORPHA:324575
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Optic atrophy, EEG with generalized epileptiform discharges, Flexion con... OMIM:619323
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Agitation, ... ORPHA:276580
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Sensorineural hearing impairment, Hyperinsulinemia, Hepa... ORPHA:79237
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Autosomal Recessive Spastic Paraplegia Type 45
Flexion contracture of toe, Optic atrophy, Ankle flexion contracture, Knee flexion contracture ORPHA:320396
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Merrf
Multiple lipomas, Sensorineural hearing impairment, Optic atrophy ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Hearing impairment, Thr... OMIM:617052
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Flexion contracture, Hypsarrhythmia, Type I diabetes mellitus, Hyperglyc... OMIM:618856
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... OMIM:609628
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycemia, Type I diabetes mellitu... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:269700
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co... OMIM:617519
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, EEG abnormality OMIM:610951
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Temple Syndrome
Hypertriglyceridemia, Posteriorly rotated ears, Small for gestational age, Maturity-onset diabete... OMIM:616222
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineu... ORPHA:411590
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Hearing impairment, Attenuation of retinal blood vessels OMIM:614504
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Agitation, Hyperinsulinemic... ORPHA:276556
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ... OMIM:598500
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, EEG with burst suppression, Optic atrophy, Knee flexion contracture OMIM:619303
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, ... ORPHA:528
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction, Bilateral sensorineural hearing impairment, Progres... OMIM:124950
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Polyphagia OMIM:620195
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num... OMIM:208920
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... OMIM:604484
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Ceroid Lipofuscinosis, Neuronal, 1
Vacuolated lymphocytes, Optic atrophy, Flexion contracture, Macular degeneration, EEG abnormality... OMIM:256730
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... ORPHA:369
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Hearing impairment ORPHA:1186
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Increased body weight, EEG abnormality, Hypercholestero... OMIM:182290
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... OMIM:311070
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Protruding ear, Increased mean corpuscular volume, Thrombocytopenia, Hear... ORPHA:261250
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Schaaf-Yang Syndrome
Impulsivity, Flexion contracture, Hypogonadism, Skin-picking, Camptodactyly, Arthrogryposis multi... OMIM:615547
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu... OMIM:612562
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Optic atrophy, Ketotic hypog... ORPHA:26792
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy OMIM:271930
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity ORPHA:633
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin OMIM:614962
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... OMIM:248370
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Recurrent hypoglycemia... ORPHA:254516
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy, Hypsarrhythmia OMIM:618776
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... ORPHA:791
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Prelingual sensorineural hearing impairment OMIM:618632
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abno... ORPHA:457205
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia, Obesity ORPHA:77296
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Optic Atrophy 6
Optic atrophy OMIM:258500
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... OMIM:619260
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... ORPHA:79240
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Polyphagia, Attention deficit hyperactivity disorder,... ORPHA:261229
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemi... OMIM:520000
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypoglycemia, Sensorineural hearing impairment,... OMIM:300438
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... ORPHA:399
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc... ORPHA:96184
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... OMIM:277460
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... ORPHA:90041
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblast... OMIM:249270
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
2Q23.1 Microdeletion Syndrome
Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Generalized hirs... ORPHA:228402
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Sensorineural hearing impairment, Opt... ORPHA:49827
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... OMIM:607115
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Hypsarrhythmia, EEG abnormality, Failure to thrive, Slender build ORPHA:505216
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Insulin-resistant diabetes mellitus, Optic atrophy, Mildly elevated... ORPHA:401768
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Obesity, EEG abnormality,... ORPHA:819
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Long eyela... OMIM:606407
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... OMIM:611490
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy OMIM:616881
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Small for gestational age, Flexion contracture, Optic atrophy, EEG abnormality, Large earlobe, De... OMIM:618346
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Failure to thrive, Thrombocytop... ORPHA:79312
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:98793
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Impulsiv... ORPHA:398069
Krabbe Disease
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality,... OMIM:245200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:177904
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... ORPHA:412
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:177901
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Hyperalaninemia, F... OMIM:614739
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Arthrogryposis, Distal, Type 2A
Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex... OMIM:193700
6Q16 Microdeletion Syndrome
Thick eyebrow, Polyphagia, Abnormal temper tantrums ORPHA:171829
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Hypouricemia, Abnormal erythrocyte enzyme level, Conge... ORPHA:1187
Diencephalic Syndrome
Macrotia, Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:98754
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus... OMIM:618857
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Alopecia... ORPHA:79474
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy OMIM:612989
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Optic atrophy, Hyperammonemia, Hyperalaninemia, Failure ... OMIM:614702
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Low plasma citrulline, Optic atrophy, EEG abnormality, Fasting hypoglycemia, Impair... OMIM:261680
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia OMIM:615986
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... ORPHA:226313
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia ORPHA:27
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Scarring, Optic a... ORPHA:90321
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis, Hyperglycemia ORPHA:90065
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Hypothermia, Pituitary hypothy... ORPHA:90674
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, EEG abnormality, Hearing... ORPHA:141
Infantile Refsum Disease
Failure to thrive, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated circul... ORPHA:772
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia ORPHA:397941
Cinca Syndrome
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Retrobulbar op... ORPHA:1451
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Bardet-Biedl Syndrome 20
Papilledema, Obesity, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy OMIM:619471
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Elevate... ORPHA:423479
Optic Atrophy 11
Optic nerve hypoplasia, Splenomegaly, Macrotia, Optic atrophy, EEG with focal sharp waves, Facial... OMIM:617302
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment OMIM:314600
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Flexion con... OMIM:609033
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggr... ORPHA:293987
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment ORPHA:65
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... OMIM:268315
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Hypercholesterolemia, Sensorineural hearing impairment, Protruding ear ORPHA:2479
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... ORPHA:470
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Optic atrophy, Obesity, Hearing impairment OMIM:614651
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia OMIM:614498
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Canavan Disease
Optic atrophy, Multifocal epileptiform discharges, Increased circulating N-acetylaspartic acid co... OMIM:271900
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Angelman Syndrome
Hyperactivity, Fair hair, Precocious puberty in females, Aggressive behavior, Tongue thrusting, S... ORPHA:72
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Secondary Short Bowel Syndrome
Steatorrhea, Polyphagia, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c... ORPHA:453533
Muscle-Eye-Brain Disease
EEG abnormality, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Sparse eyebro... OMIM:614008
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
Trisomy 18P
Highly arched eyebrow, Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Se... OMIM:300972
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long... OMIM:156200
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Castleman Disease
Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decreased mean corpus... ORPHA:160
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Failure to thrive, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia,... OMIM:259700
Riboflavin Deficiency
Hypoglycemia, Hypothermia OMIM:615026
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Abnormal dental enamel morphology, Delayed puberty ORPHA:251004
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ... OMIM:222300
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Hearing impairment ORPHA:2801
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Optic atrophy, Hyperalaninemia, Failure to thrive, Hearing i... OMIM:618249
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... ORPHA:275761
Prader-Willi Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... OMIM:176270
Stt3B-Cdg
Failure to thrive, Optic atrophy, Thrombocytopenia ORPHA:370924
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... ORPHA:1873
Weaver Syndrome
Inguinal hernia, Fine hair, Camptodactyly, Sparse hair, Umbilical hernia, Joint contracture of th... OMIM:277590
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Achilles tendon contracture, Sensorineural hearing impairmen... OMIM:612674
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Posteriorly rotated ears, Elevated circulating ... OMIM:610377
Adnp Syndrome
Sparse scalp hair, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Compulsive be... ORPHA:404448
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Neuhauser Syndrome
Large fleshy ears, Hypercholesterolemia, Cupped ear OMIM:249310
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Flexion contracture, Optic atrophy, Sensory axonal neuropathy, Motor axonal ne... OMIM:609541
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Abn... OMIM:609069
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Abnormal pinna morphology,... OMIM:216400
7Q11.23 Microduplication Syndrome
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hypoglycemic seizures, X... ORPHA:79259
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Normo... OMIM:618775
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Luscan-Lumish Syndrome
High anterior hairline, Polyphagia, Hirsutism, Aggressive behavior OMIM:616831
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Abnormal pinna morphology, Abnormal peripheral myelination, ... OMIM:133540
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Optic atrophy, Low-set ears, Hypoglycemia OMIM:608688
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Fine hair, Sparse hair, Polyphagia, Self-mutilation ORPHA:251028
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor ORPHA:363618
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Mildly elevated creatine kin... ORPHA:95433
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Low-set, posteriorly rotated ears, Inguinal hernia, Hypoammonemia, Chorioretinal dy... ORPHA:534
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Sensorineural hearing impairment, Multiple joint contractures, Optic atrophy ORPHA:504476
Xfe Progeroid Syndrome
Hearing impairment, Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypoa... OMIM:610965
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, H... OMIM:618329
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Hypochromic microcytic anemia, Normochromic microcytic anemia, Bilateral sensorine... ORPHA:66634
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia OMIM:245400
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Microcytic anemia, Congenital sensorineural hearing im... ORPHA:293967
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Peripheral demyelination, EEG abnormality ORPHA:206448
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Rett Syndrome
Failure to thrive, Cholecystitis, Increased serum leptin ORPHA:778
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Trisomy 10P
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Small for gestational age, Retinal calcification, Hyperp... OMIM:127000
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... OMIM:309000
Primary Erythromelalgia
Hypothermia ORPHA:90026
Isolated Complex I Deficiency
Increased serum pyruvate, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Optic neuropathy, S... ORPHA:2609
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Macular coloboma, Megaloblastic anemia, ... ORPHA:79282
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Timothy Syndrome
Hypothyroidism, Hypothermia, Hypoglycemia OMIM:601005
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Wolfram Syndrome 2
Sensorineural hearing impairment, Diabetes mellitus, Optic atrophy, Optic neuropathy OMIM:604928
Menkes Disease
Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Hypothermia, Woolly hair, Atypical scarr... ORPHA:565
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Pigmentar... OMIM:613154
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Failure to thrive, Spl... OMIM:615512
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypothermia, Increased circulating free fatty acid level ORPHA:26793
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Cyanosis, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin ... ORPHA:740
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Alagille Syndrome 1
Failure to thrive, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy, Low-set e... OMIM:118450
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:616562
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D... ORPHA:404454
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypothermia OMIM:309400
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Hypothermia OMIM:618493
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Failure to thrive, Abnormal retinal morphology, Elevated circulati... ORPHA:2785
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Abnormal repetitive mannerisms, Polyphagia,... ORPHA:1606
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Low-set ears, Hearing impairment OMIM:617516
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia ORPHA:230
Steinert Myotonic Dystrophy
Peripheral axonal neuropathy, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Facial dip... ORPHA:273
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Hypoglycemia, Hypothermia, Aggressive behavior ORPHA:17
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Alexander Disease
Diabetes mellitus, Hypothermia, Precocious puberty, Self-injurious behavior, Dysphagia, Hypothyro... ORPHA:58
Meningococcal Meningitis
Hypothermia, Anorexia ORPHA:33475
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Abnormality of the hairline, Aggressive behavior, Synophrys, Polyphagia,... OMIM:607872
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Thick hair, Atypical scarr... ORPHA:198
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Optic atrophy, Anemia, Optic nerve compression, Hypocalcemic seizures OMIM:612301
Temtamy Preaxial Brachydactyly Syndrome
Severe sensorineural hearing impairment, Abnormal optic disc morphology, Optic atrophy, Low-set ears ORPHA:363417
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia, Hypothermia, Anorexia ORPHA:20
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Hyperactivity, Impulsivity, Hypothermia, Corneal scarring, Atypical scarr... ORPHA:642
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin conc... OMIM:619534
Tbck-Related Intellectual Disability Syndrome
Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermi... ORPHA:488632
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Abdo... OMIM:619321
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hypothermia OMIM:251880
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Retinal dystrophy, Subretinal deposits, Abnormal optic disc mo... ORPHA:397715
Ethylene Glycol Poisoning
Cyanosis, Addictive alcohol use, Hypothermia ORPHA:31826
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Congenital Enterovirus Infection
Hypothermia ORPHA:292
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormality of the anterior... ORPHA:438213
Neuroleptic Malignant Syndrome
Agitation, Hypothermia, Dysphagia ORPHA:94093
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Hearing i... ORPHA:508498
Sarcoidosis
Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Hypothermia, Abnormality of the adrenal ... ORPHA:797
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Dysphagia ORPHA:255210
Marburg Hemorrhagic Fever
Hypoglycemia, Hypothermia, Anorexia, Aggressive behavior ORPHA:99826

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cidec

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cidec.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cidectm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cidectm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cidectm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cidectm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter