Gene Summary

Name:
fibroblast growth factor 2
Synonyms:
Fgf-2,  Fgfb,  bFGF

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 1.57×10-07
limb grasping Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 9.41×10-07
increased circulating total protein level Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 3.70×10-05
increased circulating serum albumin level Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 1.78×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract 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)
Olfactory lobe 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 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland 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 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 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 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 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
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

24 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Fgf2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fgf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Pol... OMIM:604213
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... OMIM:611603
Thrombocythemia 3
Ischemic stroke, Thrombocytosis OMIM:614521
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... ORPHA:75564
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Transient ischemic attack, Leukocytosis, Splenomegal... ORPHA:3318
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopi... OMIM:600348
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous syste... ORPHA:369873
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Hemolytic anemia, Coombs-positive hemolytic anemia, Throm... OMIM:614034
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Leukocytosis... ORPHA:824
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... ORPHA:250972
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Spontaneous, recurrent epistaxis OMIM:616937
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Diarrhea 13
Hypoalbuminemia OMIM:620357
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Thrombocythemia 2
Thrombocytosis OMIM:601977
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Periventricular heterotopia, Optic disc pallor, Partial agenesis of the corpus cal... OMIM:616171
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... OMIM:616212
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Myxopapillary Ependymoma
Autonomic bladder dysfunction, Abnormal conus terminalis morphology ORPHA:251643
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis OMIM:604416
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Telangiectasia, Raynaud phenomenon, Thrombocytosis, Anemia OMIM:615934
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona... ORPHA:71493
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Budd-Chiari syndrome, Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ... ORPHA:684
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... OMIM:160800
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Leptospirosis
Macular cotton wool spot, Chorioretinitis, Optic neuritis, Papilledema, Retinal hemorrhage, Hyper... ORPHA:509
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop... ORPHA:101030
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Beta-Ketothiolase Deficiency
Hypotension, Thrombocytosis, Hypertension, Leukocytosis ORPHA:134
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Abnormal autonomic ne... ORPHA:139578
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Chiari Malformation Type Ii
Cervical myelopathy, Agenesis of corpus callosum, Syringomyelia, Spina bifida, Gray matter hetero... OMIM:207950
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Percussion myotonia, Elbow flexion contracture,... OMIM:619040
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Abnormal erythrocyte morpholo... ORPHA:324636
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum OMIM:617622
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Arrhythmia ORPHA:1314
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Leukopenia, Leukocytosis, Thrombocytosis, Anemia, Cardiac ar... ORPHA:20
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bod... ORPHA:3101
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, I... OMIM:243150
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Thrombocytosis, Leukocytosis, Arrhythmia, T... ORPHA:94093
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Optic atrophy, Gray matter heterotopia, Dysgyria ORPHA:352682
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Portal hyperte... OMIM:615688
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis, Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Attrv30M Amyloidosis
Atrioventricular block, Abnormal autonomic nervous system physiology, Cardiomyopathy, Arrhythmia ORPHA:85447
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Hemimegalencephaly
Optic atrophy, Polymicrogyria, Abnormal neuron morphology, Pachygyria, Gray matter heterotopia ORPHA:99802
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient isc... ORPHA:3260
Multiple System Atrophy
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:102
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Gray Platelet Syndrome
Myelofibrosis, Epistaxis OMIM:139090
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs OMIM:255700
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Abnormal circulating protein concentration, Abnormal circulating albumin conc... ORPHA:86839
Multiple System Atrophy, Parkinsonian Type
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:98933
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Cardiomyopathy, Pericarditis OMIM:212065
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis OMIM:617441
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Perry Syndrome
Hypotension ORPHA:178509
Nipah Virus Disease
Hypotension ORPHA:99825
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Alexander Disease
Hypotension, Agenesis of corpus callosum, Facial palsy, Abnormal autonomic nervous system physiol... ORPHA:58
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Poems Syndrome
Splenomegaly, Pulmonary arterial hypertension, Polycythemia, Thrombocytosis ORPHA:2905
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Spinal cord compression, Abnormal autonomic nervous s... ORPHA:314652
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Congestive heart failure, Elevate... OMIM:105650
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Dengue Fever
Hypoproteinemia ORPHA:99828
Brody Disease
Percussion myotonia, Flexion contracture, Myotonia OMIM:601003
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Simplified gyral pattern, Ag... ORPHA:300570
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Myotonia, Elbow flexion contracture, Ve... ORPHA:98855
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Corticospinal tract hypoplasia, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Tachycardia, Optic disc pallor, Periventricular nodular heterotopia OMIM:619737
Multiple System Atrophy, Cerebellar Type
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:227510
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Tachycardia, Hypertension, Abnormal autonomic nervous system physiology OMIM:613870
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage OMIM:187900
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Myotonia, Hypertrophic cardiomyopathy, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Myotonia, Hypertrophic cardiomyopathy, ... ORPHA:98853
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Kyphosis, Myotonia, Hypertrophic cardiomyopathy, Ventricular escape rhyth... ORPHA:98863
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Vertebral wedging, Myotonia, Kyphoscoliosis OMIM:255710
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Lissencephaly 5
Type II lissencephaly, Optic atrophy, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension ORPHA:35708
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly,... OMIM:615219
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Paramyotonia Congenita
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia OMIM:168300
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cardiomyopathy, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum... ORPHA:370959
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Splenomegaly, Thrombocytosis, Pulmonic stenosis, Increased mean platelet vo... OMIM:222470
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Brain Small Vessel Disease 2
Subcortical heterotopia, Intracranial hemorrhage, Polymicrogyria OMIM:614483
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Syndromic Diarrhea
Aortic regurgitation, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Patent... ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Pachygyria, Partial agenesis of t... OMIM:614643
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Meningococcal Meningitis
Shock, Hypotension, Papilledema ORPHA:33475
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Facial diplegia OMIM:611890
Acalvaria
Abnormality of neuronal migration, Spina bifida ORPHA:945
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... ORPHA:100080
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormali... ORPHA:899
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradycardia, Tachyca... ORPHA:3299
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Serotonin Syndrome
Tachycardia, Hypotension, Abnormality of the autonomic nervous system, Hypertension ORPHA:43116
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Facial palsy, Pachygyria OMIM:608840
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100082
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Polymicrogyria, Bradycardia, Cerebral hemorrhage, Gray matter heter... OMIM:617397
Pure Autonomic Failure
Syncope, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Poliomyelitis
Hypovolemic shock, Hypotension, Myelitis, Abnormal motor nerve conduction velocity, Hypertension ORPHA:2912
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Vici Syndrome
Gray matter heterotopia, Optic atrophy, Cardiomyopathy, Agenesis of corpus callosum ORPHA:1493
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Kawasaki Disease
Vasculitis, Congestive heart failure, Leukocytosis, Arrhythmia, Thrombocytosis, Myocarditis, Peri... ORPHA:2331
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Pancytopenia, Portal hypertension, ... ORPHA:98850
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:97287
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Cardiomyopathy, Congestive heart failur... ORPHA:52430
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Relapsing Fever
Epistaxis, Hypotension, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Tachyca... ORPHA:91547
Brucellosis
Arteritis, Hypersplenism, Transient ischemic attack, Leukopenia, Leukocytosis, Splenomegaly, Anem... ORPHA:1304
Myelofibrosis
Myelofibrosis OMIM:254450
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Cerebral hemorrhage OMIM:300049
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Aa Amyloidosis
Hypotension ORPHA:85445
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Omenn Syndrome
Hypoproteinemia OMIM:603554
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, A... ORPHA:157
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Tremor, Hypona... ORPHA:167
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Leber Congenital Amaurosis
Abnormality of neuronal migration, Abnormal optic disc morphology ORPHA:65
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Legionnaires Disease
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:549
Acute Panmyelosis With Myelofibrosis
Low back pain, Myelofibrosis ORPHA:86843
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Leishmaniasis
Hypoalbuminemia ORPHA:507
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Myocarditis, Myocardial infarction, Pericarditis ORPHA:3452
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Myotonia, Potassium-Aggravated
Handgrip myotonia, Myotonia, Percussion myotonia OMIM:608390
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Facial diplegia ORPHA:370980
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Action tremor, Intention tremor OMIM:254900
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... OMIM:169500
Thomsen And Becker Disease
Myotonia ORPHA:614
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Abnormal corticospinal tract morphology OMIM:607225
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Alexander Disease Type Ii
Cervical spinal cord atrophy, Abnormal autonomic nervous system physiology ORPHA:363722
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Myotonia Fluctuans
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... ORPHA:99734
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:100075
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy ORPHA:292
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Degeneration of t... ORPHA:275872
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Abnormal autono... OMIM:301500
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Scoliosis, Myotonia OMIM:310440
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension, Abnormal autonomic nervous system physiology ORPHA:93256
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin, Optic atrophy ORPHA:2135
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Joint contracture of the hand, Cervical kyphosis, Shoulder flexion contracture, Pe... OMIM:255800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Tetrasomy 18P
Abnormality of neuronal migration, Syncope ORPHA:3307
Acute Radiation Syndrome
Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia ORPHA:454831
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Optic disc pallor, Gray matter heterotopia, Polymicrogyria OMIM:617201
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Hyperalaninemia, Chorioretinal hyperpigmentation OMIM:618329
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... ORPHA:35107
Castleman Disease
Myelofibrosis, Restrictive cardiomyopathy ORPHA:160
Spinal Cord Injury
Syringomyelia, Spinal cord lesion, Abnormal autonomic nervous system physiology ORPHA:90058
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, A... ORPHA:228308
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Atypical Rett Syndrome
Abnormal autonomic nervous system physiology ORPHA:3095
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Agenesis of corpus callosum, Hypovolemia ORPHA:168558
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Agenesis of corpus callosum, Hypovolemia ORPHA:289548
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Cerebral vasculitis ORPHA:83601
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Myotonia, Camptodactyly of finger, Thoracic scoliosis, Percussion-induced rapi... ORPHA:324442
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Myotonia, Atrial flutter OMIM:160900
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria OMIM:619775
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Myotonia ORPHA:371
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia, Bundle branch block, First degree atrioventricular block, Scoliosis, Patent ductus arte... ORPHA:589821
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... OMIM:301074
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Dystonia, Chorioretinal atrophy OMIM:619487
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Myotonia Permanens
Hyperlordosis, Limitation of joint mobility, Myotonia ORPHA:99735
Machado-Joseph Disease
Spinocerebellar tract degeneration, Abnormal autonomic nervous system physiology OMIM:109150
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Joint hypermobility, Short neck, Myelofibrosis... OMIM:607721
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy ORPHA:44
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocholesterolemia, Abnorm... ORPHA:14
Inherited Creutzfeldt-Jakob Disease
Abnormal autonomic nervous system physiology, Vestibular nystagmus ORPHA:282166
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Chorioretinal hypopigmentation, Optic atrophy OMIM:617303
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Attenuation of retinal blood vessels OMIM:610965
Episodic Ataxia Type 1
Scoliosis, Myotonia, Kyphoscoliosis ORPHA:37612
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Myotonic Dystrophy 2
Handgrip myotonia, Myotonia, Palpitations, Premature ventricular contraction, Tachycardia, Right ... OMIM:602668
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migr... OMIM:608836
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Periventricular heterotopia, Decreased amplitude of sensory ... OMIM:618733
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Acute Adrenal Insufficiency
Myocardial infarction, Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:95409
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Optic atrophy, Congestive heart failure ORPHA:428
Neurocutaneous Melanocytosis
Syringomyelia, Intracranial hemorrhage, Abnormality of neuronal migration ORPHA:2481
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Thrombocytosis OMIM:618213
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Hyperkalemic Periodic Paralysis
Arrhythmia, Flexion contracture, Myotonia, Congestive heart failure ORPHA:682
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys... ORPHA:35069
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis OMIM:301078
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Colpocephaly, Periventricular heterotopia OMIM:619833
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum ORPHA:95494
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Pulmonic stenosis, Agenesis of corpus callosum ORPHA:314679
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Joint stiffness, Myotonia ORPHA:209335
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:231550
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Scoliosis, Myotonia, Kyphoscoliosis ORPHA:391307
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Porphyria Variegata
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology ORPHA:79473
Adult-Onset Autosomal Dominant Leukodystrophy