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Gene: Ncald MGI:1196326

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Gene Summary

Name:
neurocalcin delta
Synonyms:
D030020D09Rik,  D15Ertd412e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.76×10-08
abnormal sleep behavior Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 2.14×10-09
increased circulating alkaline phosphatase level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.98×10-06
irregularly shaped pupil Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.93×10-05
increased blood urea nitrogen level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 6.21×10-07
decreased bone mineral content Ncaldtm1.1(KOMP)Vlcg HOM Early adult 4.78×10-09
increased circulating sodium level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.52×10-06
increased circulating insulin level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.67×10-05
abnormal bone structure Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.53×10-10
abnormal retina vasculature morphology Ncaldtm1.1(KOMP)Vlcg HOM Early adult 7.44×10-05
decreased thigmotaxis Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.96×10-06
increased coping response Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.03×10-06
hyperactivity Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.48×10-17
decreased bone mineral density Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.43×10-06
impaired pupillary reflex Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.95×10-06
decreased circulating free fatty acids level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 4.33×10-05
abnormal retina blood vessel morphology Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.03×10-07
mydriasis Ncaldtm1.1(KOMP)Vlcg HOM Early adult 6.26×10-11
abnormal behavior Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.20×10-06

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone marrow N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 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 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
Adult LacZ

LacZ Images Section

40 Images

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X-ray

XRay Images Forepaw

14 Images

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Sleep Wake

Wake state (bmp file)

17 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
Eye Morphology

Images Slit Lamp

16 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
Embryo LacZ

LacZ images wholemount

12 Images

View images
Eye Morphology

Images Ophthalmoscopy

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
Combined SHIRPA and Dysmorphology

Images

2 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

3 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

10 Images

View images

Human diseases caused by Ncald 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 Ncald by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto... OMIM:604213
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Lissencephaly 1
Ventriculomegaly, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Liss... OMIM:607432
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Microlissencephaly
Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Cerebral dysmyelination, Pachygyri... ORPHA:1083
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Lissencephaly 3
Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosu... OMIM:611603
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... ORPHA:79299
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum OMIM:614019
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Enlarged sylvian cistern, Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Lateral ventricle dilatation, Decreased body weight OMIM:619420
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus OMIM:618709
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Delayed CNS myelination, Lateral ventricle dilatation, Simplified gyral pattern OMIM:617668
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Failure to thrive in infancy, Delayed myelination, Lissencephaly, S... ORPHA:284417
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Irritability, O... OMIM:259720
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia,... ORPHA:352682
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Irritability, Impulsivity, Hyperacti... OMIM:620423
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Recurrent han... ORPHA:3008
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Degeneration of anterior horn cells, Demyelinating peripheral neuro... OMIM:607596
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Polydipsia, Hypernatremia, Irritability OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Nephrogenic diabetes insipidus, Hypernatremia, Irritability OMIM:125800
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Abnormal circulating phytanic acid concentration, Type II diabetes mellitus ORPHA:247815
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Lateral ventricle dilatation OMIM:615889
Infant Botulism
Mydriasis, Hyponatremia, Keratoconjunctivitis sicca, Anorexia, Dysphagia ORPHA:178478
Congenital Hydrocephalus
Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly ORPHA:2185
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Peripheral demyelination, Lateral ventricle dilatation OMIM:221770
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Alg2-Cdg
Cerebral hypomyelination, Lateral ventricle dilatation ORPHA:79326
Microphthalmia-Brain Atrophy Syndrome
Diffuse demyelination of the cerebral white matter, Lateral ventricle dilatation ORPHA:77299
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... OMIM:620085
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Pituitary Apoplexy
Mydriasis, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:95613
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Failure to thrive OMIM:608097
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture, Elevated circulating creatine ... OMIM:160565
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Glutaric Acidemia I
Lateral ventricle dilatation, Failure to thrive, Symmetrical progressive peripheral demyelination... OMIM:231670
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Optic pit, Chorioretinal coloboma OMIM:616428
Cach Syndrome
Lateral ventricle dilatation, Dysgyria, Premature ovarian insufficiency, Primary amenorrhea, Dysm... ORPHA:135
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu... ORPHA:94093
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Delayed CNS myelination, Lateral ventricle dilatation OMIM:619517
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Irritability OMIM:240800
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... OMIM:619489
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Increased bone mineral density OMIM:618406
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:618736
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Serotonin Syndrome
Mydriasis, Tremor, Irritability, Restlessness, Agitation ORPHA:43116
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus, Polymicrogyria OMIM:614219
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Part... ORPHA:79243
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Elevated circulatin... OMIM:617872
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529799
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Intestinal Botulism
Mydriasis, Dysphagia ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis, Dysphagia ORPHA:230800
Central Diabetes Insipidus
Depression, Polydipsia, Hyponatremia, Anorexia, Diabetes insipidus ORPHA:178029
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Tremor, Pancreatic islet-cell ... ORPHA:276608
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Craniosynostosis 6
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:616602
Morm Syndrome
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:602200
Wound Botulism
Mydriasis, Dysphagia ORPHA:178475
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Irritability, Hyponatremia, Decreased circulating renin level, ... OMIM:300539
Nephrogenic Diabetes Insipidus
Polydipsia, Nephrogenic diabetes insipidus, Hypernatremia, Anorexia ORPHA:223
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Ventriculomegaly, Lateral ventricle dilatation, Perisylvian polymicrogyria OMIM:618291
Iatrogenic Botulism
Mydriasis, Dysphagia ORPHA:254509
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Alternating Hemiplegia Of Childhood
Mydriasis, Oral-pharyngeal dysphagia, Emotional lability, Tremor, Aggressive behavior, Anorexia, ... ORPHA:2131
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Joint hypermobility, Delayed puberty, Hyperinsulinemic hypoglycemia, Osteoporo... OMIM:616033
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria OMIM:608629
X-Linked Intellectual Disability, Wilson Type
Delayed myelination, Lateral ventricle dilatation ORPHA:85290
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Partial agenesis of the corpus callosum, Abnormal myelination, Agenesis of corp... ORPHA:85179
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Arachnoid Cyst
Mydriasis, Depression, Irritability, Disinhibition, Abnormality of the endocrine system, Mania ORPHA:2356
Glutamine Deficiency, Congenital
Subependymal cysts, CNS hypomyelination, Lateral ventricle dilatation OMIM:610015
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation OMIM:600721
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Agenesis of corpus callosum ORPHA:401820
Intellectual Developmental Disorder, Autosomal Dominant 56
Delayed CNS myelination, Delayed myelination, Lateral ventricle dilatation OMIM:617854
Botulism
Mydriasis, Dysphagia ORPHA:1267
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age OMIM:619278
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter het... OMIM:604317
Phenylketonuria
Cataract, Depression, Self-mutilation, Irritability, Maternal hyperphenylalaninemia, Attention de... OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation, Polymicrogyria OMIM:617751
Foodborne Botulism
Mydriasis, Dysphagia ORPHA:228371
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Abnormal circulating porph... ORPHA:100924
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Polyphagia, Delayed puberty, Increased blood urea nitrogen, Macular dystroph... ORPHA:251004
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertr... OMIM:617885
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men... ORPHA:101030
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Limb dystonia, Tremor, Hyperactivity, Hypertriglyceridemia ORPHA:363400
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation OMIM:618606
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Agyria, Delayed myelination, Lateral ventricle dilatation ORPHA:2148
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Tremor, Pancrea... ORPHA:263455
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive ... OMIM:310600
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Obesity, Delayed CNS myelination, Partial ... OMIM:617296
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Dandy-Walker m... ORPHA:3078
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, An... OMIM:615926
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Severe demyelination of the white matter ORPHA:488635
Hemimegalencephaly
Ventriculomegaly, Polymicrogyria, Abnormal neuron morphology, Pachygyria, Gray matter heterotopia ORPHA:99802
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Miller Fisher Syndrome
Mydriasis, Anisocoria, Dysphagia ORPHA:98919
Scorpion Envenomation
Mydriasis, Glycosuria, Hyperglycemia, Tremor, Hypokalemia, Increased circulating creatine kinase ... ORPHA:466677
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hyper... ORPHA:3085
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Hyperinsulinemia ORPHA:329249
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Familial Dysautonomia
Optic atrophy, Osteolysis, Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Corneal... ORPHA:1764
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Leukodystrophy, Colpocephaly, Delayed CNS myelination, Hydro... OMIM:616034
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Depression ORPHA:163921
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Mydriasis, Sclerosis of skull base, Optic nerve compression, Thin bony cortex, Opt... OMIM:619727
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Abnormal ... ORPHA:556037
Galactokinase Deficiency
Cataract, Nuclear cataract, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level... ORPHA:79237
Lissencephaly 5
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... OMIM:615191
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Hy... ORPHA:2969
Inhalational Botulism
Mydriasis ORPHA:254504
Cocaine Intoxication
Mydriasis, Tremor, Elevated circulating creatine kinase concentration, Mania, Agitation ORPHA:90068
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Decreased number of peripheral myelinated nerve fibers OMIM:256850
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:177735
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Simplified gyral pattern, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corp... OMIM:619244
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Abnormal ... ORPHA:556030
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Lissencephaly 6 With Microcephaly
Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Pa... OMIM:616212
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Slc35A2-Cdg
Failure to thrive in infancy, Delayed myelination, Lateral ventricle dilatation, Dandy-Walker mal... ORPHA:356961
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Normal pressure hydrocephalu... ORPHA:300570
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Delayed CNS myelination, Lateral ventricle dilatation OMIM:620075
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Addison Disease
Adrenal calcification, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insufficienc... ORPHA:85138
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ret... OMIM:106210
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... ORPHA:209959
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Goiter, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism ORPHA:83601
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Pigme... ORPHA:71212
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Osteomyelitis, Increased circulating renin level, Hyponatremia,... ORPHA:171876
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert... ORPHA:528
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:264350
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Smooth Muscle Dysfunction Syndrome
Mydriasis, Retinal infarction OMIM:613834
Alg8-Cdg
Optic atrophy, Cataract, Retinopathy, Hyponatremia, Camptodactyly ORPHA:79325
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Failure to thrive ORPHA:1314
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Delayed CNS myelination, Polymicrogyria OMIM:618731
Eales Disease
Macular edema, Anterior uveitis, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascula... ORPHA:40923
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus OMIM:613845
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Osteopenia, Cataract, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Failure to thrive, Leukodystrophy, Hydroce... OMIM:619575
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dil... ORPHA:488627
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotop... OMIM:615219
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia OMIM:620195
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Hypogonadism, Hyperinsulinemia, Atten... ORPHA:791
Whipple Disease
Insulin resistance, Depression, Polydipsia, Hyponatremia, Hypothyroidism, Arthritis, Anorexia, Uv... ORPHA:3452
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... OMIM:203400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Joubert Syndrome 30
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopia, Dandy-Wal... OMIM:617622
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Failure to thrive, Periventricular heterotopia, Colpocephaly, Delayed CNS myeli... OMIM:619833
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Anorexia, Elevated circulating C-reactiv... OMIM:619381
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus callosum OMIM:612863
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... ORPHA:2457
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Short Syndrome
Insulin resistance, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Joint hyperm... ORPHA:3163
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Small for gestational age OMIM:619847
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Optic atrophy, Hypoglycemia OMIM:608688
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:168558
Acute Adrenal Insufficiency
Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primary adrenal insuffici... ORPHA:95409
Cystinosis, Nephropathic
Pigmentary retinopathy, Decreased circulating carnitine concentration, Polydipsia, Retinal pigmen... OMIM:219800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Delayed CNS myelination, C... OMIM:304050
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Rabin-Pappas Syndrome
Cataract, Tracheomalacia, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve h... OMIM:620155
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Decreased... OMIM:620371
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin d... ORPHA:95513
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Osteomalacia, Hypophosphatemia, Chorioretinal dysplasia, Motor stereotypy, Self-inju... ORPHA:534
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus cal... OMIM:164180
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Failure to thrive, Lateral ve... ORPHA:397715
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Hyperinsulinemia, Elevated circulating creatine kinase concentrat... OMIM:613327
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Cataract, Foot joint contracture, Male hypogonadism, Tremo... ORPHA:90321
Alstrom Syndrome
Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Decreased response to growth hormone... OMIM:203800
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Dilated fourth ventricle, Delayed myelination, Lateral ventricle dilatation ORPHA:572798
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Orthostatic Hypotension 1
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen, Elevated circulating dihydrox... OMIM:223360
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur... ORPHA:682
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane, Precocious puberty ORPHA:79414
Estrogen Resistance
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... OMIM:615363
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Hypopituitarism, Pseudobulbar paralysis ORPHA:449285
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Recurrent corneal erosions, In... OMIM:223900
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hypothyroidism, Hyperactivity,... OMIM:619927
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus OMIM:620156
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Emotional lab... ORPHA:293987
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Abnormal ci... ORPHA:2298
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperglycemia, Joint ... OMIM:248370
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Failure to thrive OMIM:236795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, ... OMIM:614643
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Brain Small Vessel Disease 2
Subcortical heterotopia, Ventriculomegaly, Polymicrogyria OMIM:614483
Cog5-Cdg
Delayed myelination, Lateral ventricle dilatation ORPHA:263487
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Aicardi-Goutieres Syndrome 9
Delayed CNS myelination, Lateral ventricle dilatation, Weight loss, Failure to thrive OMIM:619487
Hartsfield Syndrome
Gonadotropin deficiency, Craniosynostosis, Diabetes insipidus, Hypernatremia OMIM:615465
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Distal Deletion 10Q
Spina bifida occulta, Lateral ventricle dilatation, Failure to thrive ORPHA:96148
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus, Failure to thrive ORPHA:1895
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Irritab... OMIM:603553
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Lateral ventricle dilatation OMIM:611209
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Large for gestational age, Dilated third ventricle, Lateral ventricle... ORPHA:544488
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Alexander Disease
Microcoria OMIM:203450
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Decreased serum insul... ORPHA:79324
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Polydipsia, Corneal crystals, Glycosuria, Elevated circ... ORPHA:411634
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hyponatremia ORPHA:1930
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Obesity, Decreased body weight, Overweight OMIM:619229
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Dilated fourth ... ORPHA:370959
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypotriglyceridemia, Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Con... ORPHA:85167
Walker-Warburg Syndrome
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus c... ORPHA:899
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly ORPHA:93274
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Periventricular Nodular Heterotopia 7
Failure to thrive, Polymicrogyria, Periventricular nodular heterotopia, Delayed CNS myelination, ... OMIM:617201
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Obesity, Overweight, Lateral ventricle dilatation ORPHA:2822
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Generalized Pustular Psoriasis
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c... ORPHA:247353
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Abnormality of neuronal migration, Truncal obesity, Increased body mass index, ... OMIM:300957
Norrie Disease
Self-injurious behavior, Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnorma... ORPHA:649
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... ORPHA:1667
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Hypera... ORPHA:3077
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Cholera
Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentra... ORPHA:173
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum, Decreased body weight... ORPHA:255138
Prader-Willi Syndrome
Self-injurious behavior, Osteopenia, Precocious puberty, Decreased HDL cholesterol concentration,... OMIM:176270
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant... ORPHA:769
Mirage Syndrome
Hypoglycemia, Radial club hand, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkal... OMIM:617053
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Trichinellosis
Abnormal optic nerve morphology, Central retinal artery occlusion, Irritability, Conjunctival hyp... ORPHA:863
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Japanese Encephalitis
Pill-rolling tremor, Stiff neck, Elbow flexion contracture, Abnormal pupillary light reflex, Trem... ORPHA:79139
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Mosaic Trisomy 1
Polymicrogyria, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
X-Linked Acrogigantism
Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio... ORPHA:300373
Desmosterolosis
Ventriculomegaly, Abnormal cortical gyration, Failure to thrive, Polymicrogyria, Agenesis of corp... ORPHA:35107
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hyperlysinemia, Type I
Hypoornithinemia, Ectopia lentis, Hyperlysinemia, Hyperactivity, Optic nerve hypoplasia OMIM:238700
Shigellosis
Hypoglycemia, Hyponatremia, Arthritis, Anorexia, Conjunctivitis, Abnormal blood ion concentration... ORPHA:810
Weaver Syndrome
Ventriculomegaly, Delayed CNS myelination, Lateral ventricle dilatation OMIM:277590
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating... OMIM:231550
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hypona... OMIM:610505
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation, Failure to thrive OMIM:615485
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Ectopia pupillae, Joi... OMIM:608940
Isolated Ectopia Lentis
Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae ORPHA:1885
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Delayed menarche, Abnormal eatin... ORPHA:247585
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Nephronophthisis 11
Anisocoria, Polydipsia, Retinal degeneration OMIM:613550
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Ventriculomegaly, Gray matter heterotopia ORPHA:370980
Renal Hypoplasia, Bilateral
Hyponatremia, Glycosuria, Hyperkalemia, Astigmatism ORPHA:97362
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebral hypomyelination, Delayed CNS myelination, CNS hypomyelination, Lateral ventricle dilatation OMIM:618367
Duane Retraction Syndrome
Blepharospasm, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central heterochromia,... ORPHA:233
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:154230
Plague
Mydriasis, Depression, Conjunctival hyperemia, Arthritis, Anorexia ORPHA:707
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ventriculomegaly, Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... OMIM:620141
Gabriele-De Vries Syndrome
Delayed CNS myelination, Lateral ventricle dilatation OMIM:617557
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperg... ORPHA:79474
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Congenital Fibrosis Of Extraocular Muscles