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
increased circulating serum albumin level Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 1.78×10-06
increased circulating total protein level Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 3.70×10-05
abnormal retina morphology Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 1.56×10-07
limb grasping Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 9.41×10-07

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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 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)
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)
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)
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)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland 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
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

9 Images

Echo

M-Mode Images

24 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 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
Falciform retinal fold, Retinal dysplasia OMIM:312550
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcortical heter... ORPHA:101029
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Dysplastic corp... OMIM:604213
Lissencephaly 3
Polymicrogyria, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Periventricular lamin... OMIM:611603
Thrombocythemia 3
Ischemic stroke, Thrombocytosis OMIM:614521
Polycythemia Vera
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Thrombocytopenia,... OMIM:263300
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:615411
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Lissencephaly 1
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:607432
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Abnormal autonomic nervous system physiology, Hypotension OMIM:156310
Band Heterotopia
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Agenesis of corpus callosu... OMIM:600348
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Microlissencephaly
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Lissencephaly, Per... ORPHA:1083
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Hypertension, Thrombocytosis, Epistaxis,... OMIM:614034
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... ORPHA:369873
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, Agenesis of cor... ORPHA:250972
Thrombocytopenia 6
Osteoporosis, Spontaneous, recurrent epistaxis, Myelofibrosis OMIM:616937
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Pachygyria, Lissencephaly,... ORPHA:300573
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Portal hypertension, Thro... ORPHA:824
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Thrombocythemia 2
Thrombocytosis OMIM:601977
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia OMIM:613752
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Pachygyria, Gray matter heterotopia ORPHA:2512
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Simplified gyral pattern, Optic disc pallor, Optic atrop... OMIM:616171
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity DECIPHER:29
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Postural tremor, Elev... ORPHA:64753
Chylomicron Retention Disease
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia OMIM:246700
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Lissencephaly 6 With Microcephaly
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... OMIM:616212
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Pancytopenia, Microcytic anemia, Thrombocytosis OMIM:604416
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Myxopapillary Ependymoma
Autonomic bladder dysfunction, Abnormal conus terminalis morphology ORPHA:251643
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Thrombocytosis, Splenomegaly OMIM:209950
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... OMIM:604317
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Glutathionuria
Agenesis of corpus callosum, Gray matter heterotopia OMIM:231950
Familial Thrombocytosis
Pulmonary arterial hypertension, Syncope, Chronic myelogenous leukemia, Transient ischemic attack... ORPHA:71493
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Leukopenia, Anemia, Lymphopenia, Telangiectasia, Thrombocytosis OMIM:615934
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the jaw, Percussion myotonia, Myotonia... ORPHA:684
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Pulmonary embolism, Thrombocytosis, Iron deficiency anemia, Budd-Chiari syndrome OMIM:226300
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Dystonia, Hypoalbumin... OMIM:616267
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Myelofibrosis ORPHA:3318
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, Percussion myotonia, Myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... OMIM:160800
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray ... ORPHA:101030
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Leptospirosis
Optic neuritis, Papilledema, Hyperproteinemia, Macular cotton wool spot, Chorioretinitis, Retinal... ORPHA:509
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Abnormal... ORPHA:139578
Beta-Ketothiolase Deficiency
Hypertension, Leukocytosis, Hypotension, Thrombocytosis ORPHA:134
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Spina bifida, Gray matter heterotopia, Agenesis of corpus cal... OMIM:207950
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Myofibrillar Myopathy 10
Prolonged QTc interval, Percussion myotonia, Knee flexion contracture, Kyphosis, Flexion contract... OMIM:619040
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Symmetrical Thalamic Calcifications
Arrhythmia, Abnormality of neuronal migration ORPHA:1314
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, 4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal... ORPHA:89844
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Leukocytosis, Leukopenia, Hypotension, Anemia, Dilated cardiomyopathy, Thrombocyt... ORPHA:20
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Intracranial hemorrhage, Joint hemo... ORPHA:324636
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... OMIM:208920
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia OMIM:608093
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosi... OMIM:243150
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Raynaud phenomenon, Vasculitis, Leukocytosis, Leukopenia, Anemia, Hypertensio... OMIM:615688
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Optic atrophy, Dysgyria, Gray matter heterotopia ORPHA:352682
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiom... OMIM:612422
Cogan Syndrome
Vasculitis, Leukocytosis, Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis ORPHA:1467
Neuroleptic Malignant Syndrome
Leukocytosis, Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Thrombocytopenia, Thromb... ORPHA:94093
Polycythemia Vera
Hypertension, Pulmonary embolism, Intermittent claudication, Portal hypertension, Angina pectoris... ORPHA:729
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Abnormal autonomic nervous ... ORPHA:101016
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Optic atrophy ORPHA:99802
Snakebite Envenomation
Hypotension, Cardiogenic shock, Intracranial hemorrhage, Cerebral ischemia, Myocardial infarction... ORPHA:449285
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Abnormal autonomic nervous ... ORPHA:85451
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block ORPHA:85447
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... ORPHA:97292
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Gray matter heterotopia OMIM:164180
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
Multiple System Atrophy
Autonomic erectile dysfunction, Raynaud phenomenon, Autonomic bladder dysfunction, Abnormal auton... ORPHA:102
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Raynaud phenomenon, Myeloproliferative disorder, Leukocytosis, Anemia, Intrac... ORPHA:3260
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Autonomic bladder dysfunction, Abnormal autonomic nervous system physio... ORPHA:330001
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Hypertension, Optic disc pallor, Abnormal autonomic nervous sy... ORPHA:97229
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... OMIM:603553
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up phenomenon OMIM:255700
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Hepatocellular Carcinoma
Polycythemia, Hypotension, Anemia, Internal hemorrhage, Portal hypertension, Thrombocytopenia, Th... ORPHA:88673
Gray Platelet Syndrome
Epistaxis, Myelofibrosis OMIM:139090
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... ORPHA:86839
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... OMIM:619652
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericarditis, Thrombocytosis OMIM:212065
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis OMIM:617441
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Raynaud phenomenon, Autonomic bladder dysfunction, Abnormal auton... ORPHA:98933
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Poems Syndrome
Pulmonary arterial hypertension, Polycythemia, Thrombocytosis ORPHA:2905
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Nipah Virus Disease
Hypotension ORPHA:99825
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology, Spinal cord compression, Reduced left ventricular e... ORPHA:314652
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Hypotension, Telangiectasia of the skin ORPHA:79455
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Alexander Disease
Hypotension, Hypertension, Abnormal autonomic nervous system physiology, Sudden cardiac death, Fa... ORPHA:58
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Simplified gyral ... ORPHA:300570
Perry Syndrome
Hypotension ORPHA:178509
Brody Disease
Flexion contracture, Percussion myotonia, Myotonia OMIM:601003
Dengue Fever
Hypoproteinemia ORPHA:99828
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Pachygyria, Periventricular heterotopia ORPHA:255138
Richieri Costa-Da Silva Syndrome
Myotonia of the upper limb, Handgrip myotonia, Short neck, Vertebral wedging, Beaking of vertebra... ORPHA:3101
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:98855
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Optic disc pallor, Tachycardia, Dysplastic corpus callosum OMIM:619737
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:98853
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Joint stiffness, Short neck, Decreased cervical spine flexion due to contractures of p... ORPHA:98863
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Myelofibrosis OMIM:187900
Myelofibrosis
Myelofibrosis OMIM:254450
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Aganglionic megacolon OMIM:613870
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Kyphoscoliosis, Myotonia OMIM:255710
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Tricuspid regurgitation, Congestive heart failure, ... ORPHA:95459
Lissencephaly 5
Type II lissencephaly, Optic atrophy, Subcortical band heterotopia, Gray matter heterotopia OMIM:615191
Multiple System Atrophy, Cerebellar Type
Autonomic erectile dysfunction, Raynaud phenomenon, Autonomic bladder dysfunction, Abnormal auton... ORPHA:227510
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Pachygyria, Lissencephaly, Optic atrophy,... ORPHA:899
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia OMIM:168300
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Cerebral hemorrhage, Increased red blood cell mass, Hypotension,... OMIM:263400
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Facial diplegia, Gray matter heterotopia ORPHA:370980
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Aortic regurgitation, Increased mean platelet volume, Thrombocytosis, Splenome... OMIM:222470
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Optic atrophy, Ag... OMIM:615219
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Cardiomyopathy, Optic nerve hypoplasia, Gray matter hetero... ORPHA:370959
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Brain Small Vessel Disease 2
Polymicrogyria, Intracranial hemorrhage, Subcortical heterotopia OMIM:614483
Syndromic Diarrhea
Hypoplasia of the thymus, Lymphopenia, Aortic regurgitation, Increased mean platelet volume, Pate... ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Optic nerve hypop... OMIM:614643
Acalvaria
Abnormality of neuronal migration, Spina bifida ORPHA:945
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Capillary leak,... ORPHA:542323
Pierson Syndrome
Hypoproteinemia, Retinal vascular tortuosity, Hypopigmentation of the fundus, Retinal detachment,... OMIM:609049
Parkinson Disease 4, Autosomal Dominant
Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:605543
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn motor neurons OMIM:611890
Adult Acute Respiratory Distress Syndrome
Vasculitis, Shock, Hypotension ORPHA:70578
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Tetanus
Hypertension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradyc... ORPHA:3299
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Acquired Von Willebrand Syndrome
Mitral regurgitation, Pulmonic stenosis, Hypotension, Intracranial hemorrhage, Joint hemorrhage, ... ORPHA:99147
Meningococcal Meningitis
Papilledema, Shock, Hypotension ORPHA:33475
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Pachygyria, Abnormality of neuronal migration OMIM:608840
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Abnormal upper motor neuron morphology OMIM:606353
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Neuroendocrine Tumor Of The Colon
Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, Right ventricu... ORPHA:100080
Amyotrophic Lateral Sclerosis 4, Juvenile
Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis... OMIM:602433
Myotonia Fluctuans
Myotonia of the upper limb, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the face, ... ORPHA:99734
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Pure Autonomic Failure
Syncope, Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:441
Serotonin Syndrome
Tachycardia, Hypertension, Abnormality of the autonomic nervous system, Hypotension ORPHA:43116
Vici Syndrome
Optic atrophy, Agenesis of corpus callosum, Cardiomyopathy, Gray matter heterotopia ORPHA:1493
Pseudo-Torch Syndrome 2
Polymicrogyria, Cerebral hemorrhage, Lateral ventricle dilatation, Gray matter heterotopia, Brady... OMIM:617397
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, ... ORPHA:100082
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Congenital Hypothyroidism
Arrhythmia, Optic atrophy, Hypertension, Hypotension ORPHA:442
Poliomyelitis
Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity, Hypertension, Myelitis ORPHA:2912
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Hypotension, Anemia, Leukemia, Abnormal mast cell morphology, P... ORPHA:98850
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Brucellosis
Myocarditis, Leukocytosis, Leukopenia, Anemia, Transient ischemic attack, Hypersplenism, Thromboc... ORPHA:1304
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Congestive heart failur... ORPHA:52430
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Systemic Capillary Leak Syndrome
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:188
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Bronchial Neuroendocrine Tumor
Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Right ventricular fail... ORPHA:97287
Periventricular Nodular Heterotopia 1
Cerebral hemorrhage, Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Familial Hypoaldosteronism
Hypotension, Hypovolemia, Orthostatic hypotension ORPHA:427
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Relapsing Fever
Leukocytosis, Leukopenia, Hypotension, Anemia, Thrombocytopenia, Neutrophilia, Epistaxis, Tachyca... ORPHA:91547
Chédiak-Higashi Syndrome
Hypoproteinemia, Abnormality of retinal pigmentation, Tremor, Hypertriglyceridemia, Increased cir... ORPHA:167
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Omenn Syndrome
Hypoproteinemia OMIM:603554
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Infant Botulism
Cardiac arrest, Hypertension, Hypotension ORPHA:178478
Aa Amyloidosis
Hypotension ORPHA:85445
Mercury Poisoning
Tachycardia, Hypertension, Hypotension ORPHA:330021
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:614498
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... OMIM:261740
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Arrhythmia, Cardiomyopathy, Pachygyria, Agenesis of corpus callosum, Abnormality ... ORPHA:157
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of neuronal migration ORPHA:65
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Myotonia, Potassium-Aggravated
Percussion myotonia, Myotonia, Handgrip myotonia OMIM:608390
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Acute Panmyelosis With Myelofibrosis
Low back pain, Myelofibrosis ORPHA:86843
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Legionnaires Disease
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:549
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Whipple Disease
Myocarditis, Hypotension, Gastrointestinal hemorrhage, Myocardial infarction, Pericarditis ORPHA:3452
Leishmaniasis
Hypoalbuminemia ORPHA:507
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Pachygyria, Lissencephaly, Agenesis of co... ORPHA:35107
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Alexander Disease Type Ii
Cervical spinal cord atrophy, Abnormal autonomic nervous system physiology ORPHA:363722
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Cardiomyopathy, Ventricular tachycardia, Hypotension ORPHA:159
Thomsen And Becker Disease
Myotonia ORPHA:614
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Morphological abnormality of the corticospinal tract OMIM:607225
Ethylene Glycol Poisoning
Hypotension, Tachycardia, Hypertension, Facial palsy, Congestive heart failure, Shock, Prolonged ... ORPHA:31826
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Intention tremor, Action tremor, Hypoalbuminemia OMIM:254900
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Abnormal autonomic nervous system physiology, Aganglionic megacolon OMIM:243180
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Orthostatic hypotension due to aut... OMIM:169500
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Abnormal lower motor neuron morphology, Abnorma... ORPHA:275872
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Fabry Disease
Arrhythmia, Hypertension, Abnormal autonomic nervous system physiology, Transient ischemic attack... OMIM:301500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Tetrasomy 18P
Syncope, Abnormality of neuronal migration ORPHA:3307
Neuroendocrine Tumor Of Stomach
Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, Hematemesis, R... ORPHA:100075
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Scoliosis, Myotonia OMIM:310440
Schwartz-Jampel Syndrome, Type 1
Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Flexion contracture of toe,... OMIM:255800
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Myotonia ORPHA:681
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Hypoalbuminemia, Optic atrophy, Hyperalaninemia OMIM:618329
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Cocaine Intoxication
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... ORPHA:90068
Hennekam-Beemer Syndrome
Arrhythmia, Optic atrophy, Hypotension, Telangiectasia of the skin ORPHA:2135
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Abnormal autonomic nervous system physiology, Hypotension ORPHA:93256
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Optic disc pallor, Gray matter heterotopia OMIM:617201
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology,... ORPHA:35689
Al Amyloidosis
Autonomic erectile dysfunction, Abnormal EKG, Reduced left ventricular ejection fraction, Arrhyth... ORPHA:85443
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Heart block, Arrhythmia, Cardiomyopathy, Pachygyria, Agenesis of corpus callosum,... ORPHA:228308
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Agenesis of corpus callosum, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Agenesis of corpus callosum, Hypotension ORPHA:289548
Colchicine Poisoning
Myocarditis, Hypotension, Arrhythmia, Congestive heart failure, Hypovolemia, Cardiogenic shock ORPHA:31824
Castleman Disease
Restrictive cardiomyopathy, Myelofibrosis ORPHA:160
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:619775
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Handgrip myotonia, Myotonia, Percussion-induced rapid rolling muscle con... ORPHA:324442
Ileal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... ORPHA:100077
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Mastocytosis
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the skin ORPHA:98292
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Congenital-Onset Steinert Myotonic Dystrophy
Scoliosis, Myotonia, First degree atrioventricular block, Bundle branch block, Patent ductus arte... ORPHA:589821
Aicardi-Goutieres Syndrome 9
Optic atrophy, Chorioretinal atrophy, Dystonia, Hypoalbuminemia OMIM:619487
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypotension, Capillary leak, Shock, Tachycardia ORPHA:36234
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Anemia ORPHA:371
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Myotonic Dystrophy 1
Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Machado-Joseph Disease
Spinocerebellar tract degeneration, Abnormal autonomic nervous system physiology OMIM:109150
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphocytosis, Thrombo... OMIM:301074
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Pulmonic stenosis, Short neck, Aortic regurgitation, Joint laxity, Myelofibrosis, Hypertrophic ca... OMIM:607721
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Subconjunctival hemorrhage, Shock, Bradycardia ORPHA:319213
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of neuronal migration ORPHA:44
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Abetalipoproteinemia
Hypopigmentation of the fundus, Decreased LDL cholesterol concentration, Abnormality of retinal p... ORPHA:14
Myotonic Dystrophy 2
Handgrip myotonia, Palpitations, Myotonia, Premature ventricular contraction, Tachycardia, Right ... OMIM:602668
Inherited Creutzfeldt-Jakob Disease
Abnormal autonomic nervous system physiology, Vestibular nystagmus ORPHA:282166
Neurocutaneous Melanocytosis
Syringomyelia, Intracranial hemorrhage, Abnormality of neuronal migration ORPHA:2481
Myotonia Permanens
Myotonia, Limitation of joint mobility, Hyperlordosis ORPHA:99735
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia OMIM:617303
Episodic Ataxia Type 1
Scoliosis, Kyphoscoliosis, Myotonia ORPHA:37612
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Antenatal intracerebral hemorrhage, Arrhythmia, Dilated cardiomyopathy, Agenesis ... OMIM:608836
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Duodenal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Melena, Hema... ORPHA:100076
Caribbean Parkinsonism
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:97355
Xfe Progeroid Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Hypoalbuminemia OMIM:610965
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased amplitude of sensory action potentials, Decreased nerve co... OMIM:618733
Hemorrhagic Fever-Renal Syndrome
Hypotension, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Subconjunctival... ORPHA:340
Acute Adrenal Insufficiency
Myocardial infarction, Hypovolemia, Orthostatic hypotension, Hypotension ORPHA:95409
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Hyperkalemic Periodic Paralysis
Flexion contracture, Arrhythmia, Congestive heart failure, Myotonia ORPHA:682
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... OMIM:105210
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys... ORPHA:35069
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Autosomal Dominant Hypocalcemia
Arrhythmia, Optic atrophy, Congestive heart failure, Hypotension ORPHA:428
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Optic atrophy, Periventricular heterotopia OMIM:619833
Wilson Disease
Limb dystonia, Hand tremor, Hypouricemia, Increased circulating copper concentration, Tremor, Hyp... OMIM:277900
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis OMIM:301078
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... OMIM:606070
Crimean-Congo Hemorrhagic Fever
Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... ORPHA:99827
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Thrombocytosis OMIM:618213
Gitelman Syndrome
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension OMIM:263800
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Pulmonic stenosis, Dysplastic corpus callosum ORPHA:314679
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity OMIM:243000
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Autonomic bladder dysfunction, Abnormal autonomic nervous system phys... ORPHA:99027
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Scoliosis, Kyphoscoliosis, Myotonia ORPHA:391307
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:231550
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000