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Gene: Cacna1b MGI:88296

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Gene Summary

Name:
calcium channel, voltage-dependent, N type, alpha 1B subunit
Synonyms:
Cchn1a,  alpha(1B),  Cav2.2

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
decreased thigmotaxis Cacna1btm1b(KOMP)Wtsi HOM Early adult 2.07×10-10
decreased fasting circulating glucose level Cacna1btm1b(KOMP)Wtsi HOM   Early adult 7.44×10-05
abnormal gait Cacna1btm1b(KOMP)Wtsi HOM Early adult 7.77×10-10
abnormal locomotor behavior Cacna1btm1b(KOMP)Wtsi HOM   Early adult 2.02×10-05
hyperactivity Cacna1btm1b(KOMP)Wtsi HOM Early adult 1.11×10-18
abnormal behavior Cacna1btm1b(KOMP)Wtsi HOM   Early adult 4.76×10-09
increased exploration in new environment Cacna1btm1b(KOMP)Wtsi HOM Early adult 7.00×10-05
decreased grip strength Cacna1btm1b(KOMP)Wtsi HOM Early adult 2.62×10-09
decreased anxiety-related response Cacna1btm1b(KOMP)Wtsi HOM Early adult 1.54×10-13

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

11 Images

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Adult LacZ

LacZ Images Wholemount

11 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images
Echo

M-Mode Images

32 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Cacna1b 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 Cacna1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Ataxia, Unsteady gait, Impulsivity, Mental deterioration, Attention deficit h... ORPHA:442835
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia OMIM:618497

The table below shows human diseases predicted to be associated to Cacna1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... OMIM:610947
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618687
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachycardia, Hypote... ORPHA:369873
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Depression, Impaired glucose tolerance, Anxiety, Diabetes mellitus OMIM:614296
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Lethargy, Hyperinsulinemic hypoglycemi... ORPHA:276575
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mahvash Disease
Type II diabetes mellitus, Palpitations, Pancreatic alpha-cell hyperplasia, Increased glucagon level OMIM:619290
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Diffuse pancreatic ... ORPHA:276556
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset ... ORPHA:71529
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... OMIM:605361
Immunodeficiency 8
Hyperactivity OMIM:615401
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertension, Hypertriglyceridemia, Myocardial infarcti... OMIM:615703
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia, Ataxia OMIM:240800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai... ORPHA:401901
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Distal 7Q11.23 Microdeletion Syndrome
Bipolar affective disorder, Aggressive behavior, Attention deficit hyperactivity disorder ORPHA:254351
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hypertension OMIM:613877
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... ORPHA:280356
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Bradykinesia, Emotional lability, Craniofacial dystonia, Torticollis, An... ORPHA:71517
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Hypertension, At... ORPHA:97229
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Progressive cerebellar ataxia, Anxiety,... OMIM:604326
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:179494
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
Caribbean Parkinsonism
Dystonia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxia, Abnorm... ORPHA:97355
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus, Obesity OMIM:614250
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Ataxia, Congestive heart failure, Type II diabetes mellitus, Hypertroph... ORPHA:225
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Hypertension, Ataxia, Hypertriglyceridemia, Li... ORPHA:363400
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Obesity, Cardiogenic shock, Reduce... ORPHA:563
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Hypertension, Insulin resistance ORPHA:79084
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Multiple System Atrophy
Axial dystonia, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic blad... ORPHA:102
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety OMIM:602066
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsuli... ORPHA:263455
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Attrv30M Amyloidosis
Arrhythmia, Abnormal autonomic nervous system physiology, Weight loss, Atrioventricular block, Ca... ORPHA:85447
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Spastic Paraplegia-Nephritis-Deafness Syndrome
Gait disturbance, Hypertension ORPHA:2820
Preeclampsia
Elevated systolic blood pressure, Hypertension, Type I diabetes mellitus, Small for gestational a... ORPHA:275555
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Emotional lability, Memory impairment, Neopla... ORPHA:2495
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Gcgr-Related Hyperglucagonemia
Glucagonoma, Increased glucagon level ORPHA:438274
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic blad... ORPHA:227510
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Wolfram Syndrome, Mitochondrial Form
Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:598500
Mitchell Syndrome
Difficulty walking, Abnormal autonomic nervous system physiology OMIM:618960
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Hypertension, Insulin-resistant diabetes mellitus OMIM:608600
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic blad... ORPHA:98933
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Depression, Ataxia, Irritability, Anxiety, Dysmetria, Mental deterioration OMIM:618093
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal autonomic nervous system physiology, Sudden ... ORPHA:101016
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension OMIM:613870
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, ... ORPHA:330001
Progressive Supranuclear Palsy
Tremor, Dementia, Dysphagia, Abnormal synaptic transmission, Cerebral cortical atrophy, Cognitive... ORPHA:683
Myxopapillary Ependymoma
Unsteady gait, Autonomic bladder dysfunction ORPHA:251643
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Magel2-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic luteinizing ho... ORPHA:398069
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Optic atrophy, Abnormal autonomic nervous system physiology, Bradykinesia ORPHA:329284
Sotos Syndrome 3
Hyperactivity OMIM:617169
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hyperthyroidism, Familial Gestational
Tachycardia, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperth... OMIM:603373
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Abnormal autonomic nervous system physiology, Bradykinesia OMIM:300894
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Increased serum serotonin, Hyperactivity ORPHA:85288
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Myotonic Dystrophy 2
Palpitations, Tachycardia, Insulin insensitivity, Elevated circulating follicle stimulating hormo... OMIM:602668
Pure Autonomic Failure
Abnormal autonomic nervous system physiology, Abnormality of circulating catecholamine level, Ort... ORPHA:441
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertension, Hypertrig... OMIM:604367
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology OMIM:614498
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Tachyc... ORPHA:3299
Variegate Porphyria
Tachycardia OMIM:176200
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Glucose intolerance, Orthostatic hypotension, Insulin resistan... OMIM:606721
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Gait disturbance, Decreased motor nerve conduction velocity, Abnormal autonomic nervous system ph... ORPHA:139578
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Overweight, Lethargy, Hypoketotic hypoglycemia, Ventricular tachycardia, Atrioventric... ORPHA:26793
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Lethargy, Congestive heart failure, Cardiac arrest, Optic atrophy,... ORPHA:49827
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Tachycardia, Hypertension OMIM:184850
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Atrial fibrillation, Hypertriglyceridemia, Tachycardia, Pro... OMIM:613327
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ataxia, Telangiectases producing 'marbled' skin, Hypertension, Broad-based gait OMIM:206570
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykinesia, Anx... OMIM:168605
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglycemia, Ventricula... OMIM:212138
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Rett Syndrome
Inability to walk, Dystonia, Difficulty walking, Increased serum leptin, Gait disturbance, Abnorm... ORPHA:778
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Falls, Anxiety, Diabetes mellitus ORPHA:3198
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... ORPHA:439232
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Increased circulating cortisol level, Pheochromocytoma, Aganglionic megacolon, Hype... OMIM:171400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Failure to thrive, Lethargy, Hypertension OMIM:605711
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Type I diabetes mellitus, Hypertension ORPHA:1192
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Abnormal autonomic nervous system ... OMIM:231550
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglycerid... ORPHA:79085
Hyperthyroidism, Nonautoimmune
Goiter, Small for gestational age, Tachycardia, Thyroid hyperplasia, Hyperactivity, Hyperthyroidism OMIM:609152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small... ORPHA:398079
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Gait ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Ataxia OMIM:614575
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Goiter, Weight loss, Tachycardia, Hyperthyroidism OMIM:188580
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest ORPHA:168593
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Goiter, Weight loss, Tachycardia, Hyperthyroidism OMIM:613239
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Diabetes mell... ORPHA:189427
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Increased body weig... OMIM:615830
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Insulinoma
Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal ... ORPHA:97279
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Dystonia, Gait ataxia, Premature pubarche, Hypothyroidism, Gait disturbance, ... OMIM:616878
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Motor Neuropathy, Peripheral, With Dysautonomia
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Decreased nerve conduction... OMIM:252320
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypertension ORPHA:181
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabetes mellitus, Obesity OMIM:618620
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Co... OMIM:171420
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Histiocytoid Cardiomyopathy
Lethargy, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Hypoglycemia, Vent... ORPHA:137675
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypopituitarism, Hy... ORPHA:90065
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hypothyroidism, Hashimoto thyroiditis, Abnormal autonomic nervous system physiology, Cere... ORPHA:83601
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Impulsivity, Depression, Hyperactivity ORPHA:88616
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Gait disturbance, Hypertension, Cerebral hemorrhage, Ce... ORPHA:136
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Hypopituitarism, Myocardial i... ORPHA:449285
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Anxiety, Bradykinesia OMIM:606324
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Lethargy, Ventricular tachycardia OMIM:600649
Hyperaldosteronism, Familial, Type I
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Parkinsonism-Dystonia, Infantile, 2
Dystonia, Gait ataxia, Abnormal autonomic nervous system physiology, Oculogyric crisis, Shuffling... OMIM:618049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Fabry Disease
Arrhythmia, Angina pectoris, Abnormal autonomic nervous system physiology, Hypertension, Myocardi... OMIM:301500
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypertension OMIM:603278
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Hypotension, Hypothyroidism, Gait disturbance, Abnormal autonomic nervous system phy... ORPHA:93256
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Narcolepsy, Ataxia OMIM:604121
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Unsteady gait, ... ORPHA:35069
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Obesity, Cardiogenic shock, Syncope, Decreased QR... ORPHA:66529
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Facial palsy, Cerebral isch... ORPHA:36382
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ability to walk, Tachycardia, Optic disc pallor ORPHA:79264
Cirrhosis, Familial
Pulmonary arterial hypertension, Lethargy, Hypertension OMIM:215600
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Hypertr... ORPHA:79083
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micr... ORPHA:189439
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia, Sudden cardiac death, Delayed puberty, Tachycardia, Dilated cardiomyopathy, Aborted... OMIM:614921
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Glucocorticoid Resistance, Generalized
Hypertension, Hypoglycemia OMIM:615962
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... ORPHA:309246
Alexander Disease
Hypotension, Hypothyroidism, Gait disturbance, Abnormal autonomic nervous system physiology, Hype... ORPHA:58
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia... ORPHA:435651
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dy... OMIM:105210
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglycerid... ORPHA:435660
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
16P12.1P12.3 Triplication Syndrome
Tachycardia, Failure to thrive, Hyperactivity, Attention deficit hyperactivity disorder, Decrease... ORPHA:485405
Parkinson Disease 4, Autosomal Dominant
Weight loss, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:605543
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Porphyria Variegata
Hypertension, Tachycardia, Abnormal autonomic nervous system physiology, Inappropriate antidiuret... ORPHA:79473
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Abnormal autonomic nervous system physiology, Bradykinesia, Progressive cerebellar a... ORPHA:282166
Machado-Joseph Disease
Dystonia, Truncal ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Ataxia, Brad... OMIM:109150
Variant Abeta2M Amyloidosis
Reduced ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Abnormal cranial nerve morphology, Gait ataxia, Akinesia, Abnormal vestibulo-... ORPHA:247234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Primary Lipodystrophy
Insulin resistance, Angina pectoris, Hypertension, Congestive heart failure, Type II diabetes mel... ORPHA:90970
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Premature adrenarche, Central hypothyroidism, Decreased response to growth hormone st... ORPHA:293987
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Hypertension OMIM:616069
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Glucose intolerance, Impaired glucose tolerance, Atrioventricular block... OMIM:614407
Tenorio Syndrome
Gait disturbance, Hypoglycemia, Hypoinsulinemia, Raynaud phenomenon, Syncope OMIM:616260
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Tachycardia, Hypoglycemia OMIM:229700
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Abnormal cardiovascular system physiology, Insulin-resistan... ORPHA:79086
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Autonomic bladder dysfunction, Ataxia, Delayed puberty, Dysmetria, Hypogonadotropic hyp... ORPHA:447896
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction, Ataxia, Aut... OMIM:169500
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Arrhythmia, Lethargy, Hypotension, Hypoketotic hypoglycemia, Ventricular ta... ORPHA:159
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hyperaldosteronism, Hypertension, Abnormal circulating renin,... ORPHA:369929
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Ataxia, Hypertension ORPHA:3222
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Optic atrophy, Obesity ORPHA:791
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Hypergonadotropic hypogonadism, Hypertension, Delayed puberty, Cerebral hemorrha... ORPHA:280679
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Senior-Loken Syndrome
Ataxia, Hypertension ORPHA:3156
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Impaired... OMIM:617253
Wolfram Syndrome
Male hypogonadism, Gastrointestinal hemorrhage, Abnormal autonomic nervous system physiology, Ata... ORPHA:3463
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Paroxysmal Hemicrania
Diabetes mellitus, Hypertension ORPHA:157835
Sneddon Syndrome
Cerebral hemorrhage, Facial palsy, Ischemic stroke, Hypertension OMIM:182410
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi... OMIM:616201
Lcat Deficiency
Hypertriglyceridemia, Hypertension ORPHA:650
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension OMIM:617021
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Arrhythmia, Narcolepsy, P... ORPHA:3385
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Congestive heart failure, Bradycardia, Hypoglycemia OMIM:619048
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Apathy, Central hypothyroidis... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Apathy, Central hypothyroidis... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Apathy, Central hypothyroidis... ORPHA:93924
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Apathy, Central hypothyroidis... ORPHA:220386
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, D... ORPHA:449291
Takayasu Arteritis
Hypertensive crisis, Hypertension, Weight loss, Myocardial infarction, Cerebral ischemia, Pulmona... ORPHA:3287
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Xfe Progeroid Syndrome
Optic atrophy, Cachexia, Hypertension OMIM:610965
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Mercury Poisoning
Hypotension, Dystonia, Tachycardia, Hypertension ORPHA:330021
Serotonin Syndrome
Hypotension, Abnormality of the autonomic nervous system, Tachycardia, Hypertension ORPHA:43116
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Ataxia, Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertr... ORPHA:1349
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Familial Dysautonomia
Orthostatic hypotension, Gait disturbance, Hypertension, Ataxia, Tachycardia, Optic atrophy ORPHA:1764
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Auto... ORPHA:85443
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Facial palsy, Third degree atrioventricular block, Dilated cardiomyop... OMIM:601419
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Abnormal autonomic nervous system physiology, Hyper... ORPHA:94093
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Lethargy, Elevated circulating thyroid-stimulating hormone concen... ORPHA:95717
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus ORPHA:2833
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cushing Disease
Lethargy, Hypertension, Telangiectasia of the skin, Truncal obesity, Failure to thrive, Diabetes ... ORPHA:96253
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Decreased serum leptin, Supraventricular arrhythmia, Insulin resistance, ... ORPHA:280365