Gene Summary

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

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 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
limb grasping Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 1.09×10-06
abnormal retina morphology Fgf2tm1b(EUCOMM)Wtsi HOM Early adult 1.55×10-07

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

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

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

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

Associated Images

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

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Echo

M-Mode Images

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

16 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 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
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicro... OMIM:604213
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum, Gray matter heterotopia OMIM:600348
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology, Simplified gyral... ORPHA:329228
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... OMIM:610031
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Periventricular n... OMIM:617201
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Lissencephaly 4
Microcephaly, Agenesis of corpus callosum, Lissencephaly, Simplified gyral pattern OMIM:614019
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Microcephaly, Agenesis of ... OMIM:614039
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Optic atrophy OMIM:618572
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Microcephaly, Cortical dysplasia, Abnormality of neuronal mi... OMIM:618709
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Hypoplasia of the corpus callosum, Thick cerebral cortex,... OMIM:618677
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Epilepsy, Familial Focal, With Variable Foci 4
Microcephaly, Abnormal autonomic nervous system physiology OMIM:617935
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Hypertension, Osteopoikilosis ORPHA:1879
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:171703
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Symmetrical Thalamic Calcifications
Microcephaly, Arrhythmia, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus, Agenesis of corpus callosum, Hypertension OMIM:166990
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension, Abnormality of the autonomic nervous system OMIM:156310
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Mitchell Syndrome
Abnormal cerebral white matter morphology, Abnormal autonomic nervous system physiology OMIM:618960
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Neutropenia, A... OMIM:202700
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Midline brain calcifications, Abnormal au... ORPHA:97355
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Hypoproteinemia ORPHA:1116
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension, Abnormal autonomic nervous syste... ORPHA:369873
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Brain Small Vessel Disease 2
Porencephalic cyst, Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Schizencephaly OMIM:614483
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Myelofibrosis, Osteoporosis OMIM:616937
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Parkinson Disease 4, Autosomal Dominant
Abnormal autonomic nervous system physiology, Lewy bodies, Orthostatic hypotension OMIM:605543
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Agenesis of cor... ORPHA:250972
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Thrombocythemia 2
Thrombocytosis OMIM:601977
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology, Orthostatic hy... OMIM:263570
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, I... ORPHA:91354
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Simpl... OMIM:616212
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Beta-Propeller Protein-Associated Neurodegeneration
Iron accumulation in substantia nigra, Cerebral atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Microcephaly, Fac... ORPHA:370980
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia OMIM:604416
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:209950
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon OMIM:615934
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Hypertension, Ce... ORPHA:97229
Myxopapillary Ependymoma
Abnormal conus terminalis morphology, Autonomic bladder dysfunction ORPHA:251643
Myotonia Congenita, Autosomal Dominant
Percussion myotonia, Handgrip myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up pheno... OMIM:160800
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Abnormal autonomic nervous system physiology OMIM:300894
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology, Leukoencephalopathy OMIM:613724
Chiari Malformation Type Ii
Spina bifida, Gray matter heterotopia, Cervical myelopathy, Syringomyelia, Myelomeningocele, Agen... OMIM:207950
Leptospirosis
Papilledema, Hyperproteinemia, Chorioretinitis, Optic neuritis, Retinal hemorrhage, Macular cotto... ORPHA:509
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myotonia of the upper limb, Myotoni... ORPHA:684
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Hypotension, Pituitary hypothyroidism, Abnormal prolactin level, Central diab... ORPHA:95619
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Cerebral ischemia, Splenome... ORPHA:71493
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Myelofibrosis ORPHA:3318
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Abnormal autonomic nervous system physiology, Bradycardia, Microcephaly, Optic atrophy, Progressi... OMIM:614498
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Hypotension, Leukocytosis, Cardiac arrest, Leukoencephalopathy, Leukopenia, Dilat... ORPHA:20
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Hypopituitarism, Myocardial i... ORPHA:449285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Pachygyria, Abnormal periventricular white matter morphology, Abnormality of neuron... OMIM:608840
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Corticospinal tract hypopla... ORPHA:255138
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, L... OMIM:218670
Citrullinemia Type Ii
Hypercholesterolemia, Tremor, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoal... ORPHA:247585
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Pulmonary embolism, Budd-Chiari syndrome, Thrombocytosis OMIM:226300
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Gastrointestinal hemorrhage, Autoim... ORPHA:324636
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Abnormal... ORPHA:139578
Beta-Ketothiolase Deficiency
Hypotension, Thrombocytosis, Hypertension, Leukocytosis ORPHA:134
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Autonomic bladder dysfunction, Diffuse leukoencephalopathy, Orthostatic ... OMIM:169500
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia OMIM:164180
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Hypoplasia of the corpus callosum, Dys... ORPHA:300570
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Hypercholesterolemia, Head tremor, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Anencephaly, Optic nerve dysplasia, Cortical dysp... OMIM:615287
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy OMIM:606353
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Paucity of anterior horn motor neurons,... OMIM:611890
Cogan Syndrome
Thrombocytosis, Aortic regurgitation, Large vessel vasculitis, Leukocytosis, Anemia, Vasculitis ORPHA:1467
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Hypertension, Pancytopenia, Splenomegaly, Leukopenia, ... OMIM:615688
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Mercury Poisoning
Hypotension, Abnormal cerebral white matter morphology, Tachycardia, Hypertension ORPHA:330021
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration OMIM:615558
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Polycythemia Vera
Myelofibrosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chia... ORPHA:729
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Myelofibrosis OMIM:187900
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Simplified gyral pattern, Optic atrophy, Colpocephaly, Lissencephaly OMIM:615219
Neuroleptic Malignant Syndrome
Arrhythmia, Thrombocytosis, Hypotension, Leukocytosis, Hypertensive crisis, Hypertension, Thrombo... ORPHA:94093
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse white matter abnormalities, Abnormal periventricular white matter morphology, Hypoplasia ... ORPHA:466934
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Poems Syndrome
Pulmonary arterial hypertension, Polycythemia, Thrombocytosis, Increased circulating prolactin co... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ia
Microcephaly, Thrombocytosis, Cardiomyopathy OMIM:212065
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Hypoalbuminemia OMIM:208920
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Supraventricular arrhythmia, Intracranial hemorrhage, Leukocytosis, Vasculitis in... ORPHA:3260
Progressive Non-Fluent Aphasia
Abnormal cerebral white matter morphology, Temporal cortical atrophy, Abnormal lower motor neuron... ORPHA:100070
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Hypotensi... ORPHA:95613
Renal Tubular Dysgenesis
Hypotension, Microcephaly OMIM:267430
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal cerebral white matter morphology, Cerebral vasculitis, Abnormal autonomic nervous system... ORPHA:83601
Motor Neuropathy, Peripheral, With Dysautonomia
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Decreased nerve conduction... OMIM:252320
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, ... ORPHA:330001
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Abnormal autonomic nervous system physiology, Cardiomyopathy ORPHA:85447
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Abnormal circulating albumin concentration, Abnormal circulating protein conc... ORPHA:86839
Gray Platelet Syndrome
Epistaxis, Myelofibrosis OMIM:139090
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal upper motor neuron morphology, Basa... OMIM:221770
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Multiple System Atrophy
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... ORPHA:102
Myofibrillar Myopathy 10
Flexion contracture of finger, Percussion myotonia, Ankle flexion contracture, Increased QRS volt... OMIM:619040
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Conge... ORPHA:52430
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal autonomic nervous system physiology, Sudden ... ORPHA:101016
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Alexander Disease
Hypotension, Megalencephaly, Abnormal autonomic nervous system physiology, Hypertension, Sudden c... ORPHA:58
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis OMIM:617441
Tetrasomy 18P
Microcephaly, Syncope, Abnormality of neuronal migration ORPHA:3307
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Periventricular nodu... OMIM:603671
Walker-Warburg Syndrome
Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrogyria, Abnormal... ORPHA:899
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Gray matter heterotopia, Polymicrogyri... ORPHA:370959
Omenn Syndrome
Hypoproteinemia OMIM:603554
Dengue Fever
Hypoproteinemia ORPHA:99828
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona... ORPHA:275872
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Elevated circulating growth hormone concentration, Right ventric... ORPHA:97287
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Hypertension ORPHA:93256
Variant Abeta2M Amyloidosis
Spinal cord compression, Reduced ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Congenital Hypothyroidism
Arrhythmia, Hypotension, Hypertension, Optic atrophy, Anterior hypopituitarism ORPHA:442
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Cerebral hemorrhage, Cerebral calcification, Microcephal... OMIM:617397
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Neurofibrillary tangles,... OMIM:616840
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Multiple System Atrophy, Parkinsonian Type
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... ORPHA:98933
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Hepatocellular Carcinoma
Thrombocytosis, Internal hemorrhage, Hypotension, Polycythemia, Budd-Chiari syndrome, Thrombocyto... ORPHA:88673
Nipah Virus Disease
Hypotension ORPHA:99825
Perry Syndrome
Hypotension ORPHA:178509
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Myelofibrosis
Myelofibrosis OMIM:254450
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia OMIM:615960
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
Leukodystrophy, Hypomyelinating, 12
Hypoplasia of the corpus callosum, Secondary microcephaly, Abnormal autonomic nervous system phys... OMIM:616683
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Periventricular heterotopia, Abnormal cerebral ... OMIM:618476
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension OMIM:613870
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Facial palsy, Tachycard... ORPHA:31826
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Ventricular tachycardia, Microcephaly, Cardiomyopathy ORPHA:159
Acalvaria
Spina bifida, Abnormality of neuronal migration ORPHA:945
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Cerebral calcification, Macrocytic anemia OMIM:212750
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Thrombocytosis, Increased mean platelet volume, Aortic regurgitation OMIM:222470
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Syndromic Diarrhea
Thrombocytosis, Aortic regurgitation, Lymphopenia, Patent ductus arteriosus, Increased mean plate... ORPHA:84064
Inherited Creutzfeldt-Jakob Disease
Diffuse spongiform leukoencephalopathy, Focal T2 hyperintense basal ganglia lesion, Abnormal auto... ORPHA:282166
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... OMIM:263400
Vici Syndrome
Gray matter heterotopia, Cerebral cortical atrophy, Optic atrophy, Agenesis of corpus callosum, C... ORPHA:1493
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Optic atrophy, Microcephaly, Abnormality of neuronal migration ORPHA:2518
Multiple System Atrophy, Cerebellar Type
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... ORPHA:227510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormality of the bas... ORPHA:157
Paramyotonia Congenita Of Von Eulenburg
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia OMIM:168300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Infantile Neuroaxonal Dystrophy
Abnormal cerebral white matter morphology, Abnormal autonomic nervous system physiology, Iron acc... ORPHA:35069
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Hennekam-Beemer Syndrome
Arrhythmia, Hypotension, Telangiectasia of the skin, Microcephaly, Optic atrophy ORPHA:2135
Pure Autonomic Failure
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Syncope ORPHA:441
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Hypoplasia of the corpus callo... OMIM:607694
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Tachyc... ORPHA:3299
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Abnormal cerebral white matter morphology, Abnormality of neuronal migration OMIM:300957
Meningococcal Meningitis
Hypotension, Papilledema, Shock ORPHA:33475
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Shock ORPHA:70578
Serotonin Syndrome
Hypotension, Abnormality of the autonomic nervous system, Tachycardia, Hypertension ORPHA:43116
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Dysgyria, Microcephaly, Optic atrophy, Dilation of lat... ORPHA:135
Tremor-Ataxia-Central Hypomyelination Syndrome
Autonomic bladder dysfunction, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Abno... ORPHA:447896
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest ORPHA:168593
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Cerebral cortical atrophy, Hypertension OMIM:174000
Richieri Costa-Da Silva Syndrome
Generalized bone demineralization, Handgrip myotonia, Myotonia of the upper limb ORPHA:3101
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Absent septum pellucidum, Hypotension, Anterior pituitary agene... ORPHA:95494
Myotonic Dystrophy 1
Atrial flutter, Cerebral atrophy, Atrial fibrillation, Myotonia, First degree atrioventricular block OMIM:160900
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Achalasia-Addisonianism-Alacrima Syndrome
Microcephaly, Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:231550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Pachygyria, Intracerebral periventricular calcifications, Abnormality of neuronal mig... ORPHA:228308
Prolactinoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Anterior h... ORPHA:2965
Poliomyelitis
Myelitis, Abnormal motor nerve conduction velocity, Hypotension, Hypertension, Hypovolemic shock ORPHA:2912
Late-Onset Isolated Acth Deficiency
Hypotension, Adrenocorticotropic hormone deficiency, Orthostatic hypotension, Pituitary adenoma ORPHA:199299
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
9Q21.13 Microdeletion Syndrome
Syringomyelia, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation, Melena, Facial tel... ORPHA:100080
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Leber Congenital Amaurosis
Abnormality of the optic disc, Abnormality of neuronal migration ORPHA:65
Desmosterolosis
Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrogyria, Abnormal... ORPHA:35107
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Basal ganglia cysts, Arrhythmia, Intracerebral periventricula... OMIM:608836
Myotonic Myopathy With Cylindrical Spirals
Percussion myotonia OMIM:160990
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the corpus callosum, Orthostatic hypotension, Autonomic bladder dysfunction... ORPHA:99027
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Leishmaniasis
Hypoalbuminemia ORPHA:507
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100082
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Tremor, Abnormality of retinal pig... ORPHA:167
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Brucellosis
Thrombocytosis, Arteritis, Pericarditis, Leukocytosis, Thrombocytopenia, Splenomegaly, Leukopenia... ORPHA:1304
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension OMIM:264350
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Microcephaly, Abnormal autonomic nervous system physiology OMIM:617903
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Parkinson Disease, Late-Onset
Substantia nigra gliosis, Abnormal autonomic nervous system physiology, Lewy bodies OMIM:168600
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Hypotension, Leukocytosis,... ORPHA:98850
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Abnormal size of pituitary gland, Decreased response to growth hormone stimuation test ORPHA:293978
Aa Amyloidosis
Hypotension ORPHA:85445
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Elevated circulating growth hormone concentration, R... ORPHA:100076
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... OMIM:105210
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Abnormality of the pituitary gland, Increased circulating g... ORPHA:91347
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Myocardial infarction, Myocarditis ORPHA:3452
Thomsen And Becker Disease
Myotonia ORPHA:614
Legionnaires Disease
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:549
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Achilles tendon contracture, Sudden cardi... ORPHA:98855
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Myotonic Dystrophy 2
Myotonia, Palpitations, Elevated circulating follicle stimulating hormone level, Tachycardia OMIM:602668
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Achilles tendon contracture, Sudden cardi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Achilles tendon contracture, Sudden cardi... ORPHA:98853
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Myocarditis ORPHA:292
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hypovolemia, Hypotension, Adrenocorticotropic hor... ORPHA:168558
Joubert Syndrome
Polymicrogyria, Aganglionic megacolon, Aplasia/Hypoplasia of the corpus callosum, Abnormality of ... ORPHA:475
Myotonia Fluctuans
Myotonia of the face, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the upper limb, ... ORPHA:99734
Pierson Syndrome
Hypoproteinemia OMIM:609049
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock ORPHA:391673
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Relapsing Fever
Hypotension, Leukocytosis, Epistaxis, Thrombocytopenia, Tachycardia, Anemia, Leukopenia, Neutroph... ORPHA:91547
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hypovolemia, Hypotension, Adrenocorticotropic hor... ORPHA:289548
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrog... ORPHA:2671
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Throm... ORPHA:98849
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Fabry Disease
Arrhythmia, Angina pectoris, Abnormal autonomic nervous system physiology, Hypertension, Myocardi... OMIM:301500
Myopathy, X-Linked, With Excessive Autophagy
Myotonia, Flexion contracture OMIM:310440
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Achilles tendon contracture, Sudden cardi... ORPHA:98863
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Syringomyelia, Abnormality of neuronal migration ORPHA:2481
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Hypotension ORPHA:90791
Parkinsonian-Pyramidal Syndrome
Substantia nigra gliosis, Abnormal autonomic nervous system physiology, Lewy bodies ORPHA:171695
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock ORPHA:36238
Acute Panmyelosis With Myelofibrosis
Myelofibrosis ORPHA:86843
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Chorioretinal hypopigmentation, Hypoalbuminemia OMIM:617303
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia... ORPHA:14
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration ORPHA:2318
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Macrogyria, Abnormal cortical gyra... ORPHA:2211
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Vici Syndrome
Gray matter heterotopia, Congestive heart failure, Schizencephaly, Dilated cardiomyopathy, Microc... OMIM:242840
Mastocytosis
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin ORPHA:98292
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Combined Oxidative Phosphorylation Defect Type 29
Primary microcephaly, Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Tricuspid regurgitation, Interhypothala... OMIM:618929
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myocarditis, Capillary leak ORPHA:36234
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Abnormal autonomic nervous system physiology, Long-segment aganglionic megacolon, Cerebral dysmye... OMIM:609136
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Pulmonic ... ORPHA:314679
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Machado-Joseph Disease
Abnormal autonomic nervous system physiology, Spinocerebellar tract degeneration OMIM:109150
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Hypotension, Pituitary hypothyroidism, Ectopic posterior pituit... ORPHA:90695
Neuroendocrine Neoplasm Of Appendix
Palpitations, Hypotension, Adrenocorticotropic hormone excess, Tricuspid stenosis, Heart murmur ORPHA:100079
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Handgrip myotonia, Flexion contracture, Achilles tendon contracture, Myo... ORPHA:324442
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Tricuspid r... ORPHA:100075
16P13.11 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Auto... ORPHA:85443
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:618213
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of neuronal migration ORPHA:44
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy, Narcolepsy ORPHA:314404
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Lymphopenia, Myoton... ORPHA:391307
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Anemia ORPHA:371
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Gray matter heterotopia, Hypertension, Abnormal corti... OMIM:311200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormal autonomic nervous system phy... ORPHA:453499
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Abnormal hippocampus morphology, Thick cerebral cortex ORPHA:352582
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Agenesis o... OMIM:618733
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Gray matter heterotopia OMIM:618797