Gene: Slc5a5 MGI:2149330

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Gene Summary

Name:
solute carrier family 5 (sodium iodide symporter), member 5
Synonyms:
NIS

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
decreased urine creatinine level Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.33×10-05
decreased prepulse inhibition Slc5a5tm1b(KOMP)Wtsi HOM Early adult 3.11×10-07
corneal deposits Slc5a5tm1b(KOMP)Wtsi HOM Early adult 4.51×10-05
abnormal sleep behavior Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.41×10-06
hyperactivity Slc5a5tm1b(KOMP)Wtsi HOM Early adult 3.20×10-05
decreased bone mineral density Slc5a5tm1b(KOMP)Wtsi HOM Early adult 7.20×10-07
increased startle reflex Slc5a5tm1b(KOMP)Wtsi HOM Early adult 2.61×10-05
abnormal auditory brainstem response Slc5a5tm1b(KOMP)Wtsi HOM   Early adult 1.86×10-08
increased exploration in new environment Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.41×10-07
decreased exploration in new environment Slc5a5tm1b(KOMP)Wtsi HOM Early adult 4.31×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Ovary  Section images heterozygote Not available
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis 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)
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 Not available
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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas 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 Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin 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)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
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)
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)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 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%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
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)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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)
dorsal root ganglion 1.69% (1 of 59)
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)
fronto-nasal process 1.67% (1 of 60)
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)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click +20dB+50dB waveforms (pdf format)

2 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Slc5a5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc5a5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716

The table below shows human diseases predicted to be associated to Slc5a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Blepharochalasis And Double Lip
Goiter OMIM:109900
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter OMIM:180295
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter, Nodular goiter ORPHA:319487
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Corneal crystals, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Nodular goiter ORPHA:97290
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Abnormal... ORPHA:411629
Hyperprolinemia, Type I
Aggressive behavior, Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, EEG abnormality, Hyp... OMIM:239500
Corneal Degeneration, Ribbonlike, With Deafness
Hearing impairment, Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Hyperparathyroidism ORPHA:705
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Primary hyperparathyroidism, Nodular goiter, Medullary thy... ORPHA:1332
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Brachyolmia Type 1, Toledo Type
Gait disturbance, Increased urinary disaccharide excretion, Precocious costochondral ossification... OMIM:271630
Graves Disease, Susceptibility To, 1
Graves disease, Goiter OMIM:275000
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Hyperactivity OMIM:309548
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Elevated circulating creatinine concen... ORPHA:411634
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Corneal opacity, Opacification of the corneal str... OMIM:252650
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Neoplasm of the adrenal cortex, Para... ORPHA:163634
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 level, Congenital hypothyroidism, Goiter, Elevated circulating thyroid-s... ORPHA:226313
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Norrie Disease
Shallow anterior chamber, Aggressive behavior, Dementia, Hypoplasia of the iris, Cataract, Sensor... OMIM:310600
Cystinosis, Nephropathic
Progressive neurologic deterioration, Recurrent corneal erosions, Generalized aminoaciduria, Rick... OMIM:219800
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous s... OMIM:256800
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hearing impairment, Tortuosity of conjunctival vessels, Hyperactivity, Incre... OMIM:248510
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Thyroid C cell hyperplasia, Parathyroid a... OMIM:171400
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Dementia, Prelingu... ORPHA:52368
Insulin-Like Growth Factor I Deficiency
Osteopenia, Sensorineural hearing impairment, Hyperactivity OMIM:608747
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Neoplasm... ORPHA:457059
Ocular Cystinosis
Corneal crystals ORPHA:411641
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Opacification of the corneal stroma, Proteinuria OMIM:245900
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Corneal opacity, Generalized osteoporosis, Osteoly... OMIM:277950
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinuria, Irritability, Hyperactivity OMIM:605899
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Mucopolysacchariduria, Opacification of the corneal stroma, Ne... OMIM:215250
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction, Difficulty walking, Abnormal motor evoked potentials, Atax... ORPHA:320401
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Saccharopinuria
Histidinuria, EEG abnormality, Citrullinuria, Hyperlysinuria OMIM:268700
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Immunodeficiency 8
Hyperactivity OMIM:615401
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas... OMIM:160980
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Phenylketonuria
Self-mutilation, Aggressive behavior, Cataract, Irritability, Anxiety, Hyperactivity, Increased l... OMIM:261600
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Self-injurious behavior, Ataxia, Posteriorly rotated ears, Opacification of the... OMIM:601853
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Thyrotoxic... ORPHA:525731
Chromosome 8Q21.11 Deletion Syndrome
Camptodactyly, Sensorineural hearing impairment, Opacification of the corneal stroma, Protruding ear OMIM:614230
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Recurrent urinary tract infections, Vesicouretera... OMIM:244600
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Congenital Hypothyroidism
Goiter, Hypothyroidism, Abnormality of the thyroid gland, Hypogonadism, Thyroid dysgenesis, Anter... ORPHA:442
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter, Hashimoto thyroiditis OMIM:616858
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hyperactivity, Mental deterioration OMIM:615924
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular ac... OMIM:604278
Gm1-Gangliosidosis, Type Iii
Dystonia, Opacification of the corneal stroma OMIM:230650
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Dementia, Ataxia, Sensorineural hearing impairment, Memory impairment, Optic atrophy OMIM:604121
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with temporal focal spikes, Interictal EEG abnormality, Aggres... ORPHA:98818
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Irritability, Abnormal fear/anxiet... ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Aggressive behavior, Increased level of gamma-aminobutyri... OMIM:271980
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Ovarian carcinoma, Thyroid a... OMIM:158350
Lennox-Gastaut Syndrome
Aggressive behavior, EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity, Ment... ORPHA:2382
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Head tremor, Resting tremor, Ataxia, Urinary incontinence, Cataract, Sensorineural he... ORPHA:314404
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Corneal arcus OMIM:144300
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Agg... ORPHA:228360
Mucopolysaccharidoses, Unclassified Types
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:252700
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Hearing impairment, Opacification of the corneal stroma, Joint stiffness, ... ORPHA:583
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Abnormality of the pituitary gland, Male hypogonadism, Elevated circ... ORPHA:91347
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Head titubation, Spastic gait, Sensorineural hearing impairme... ORPHA:99027
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe ORPHA:1325
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Opacification of the corneal stroma, Waddling gait, Nephrotic... OMIM:242900
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Aminoaciduria, Hearing impairment, Irritability, Loss of ability to walk in ea... OMIM:609560
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Corneal opacity, Progressive inability to walk, Sensorineur... ORPHA:581
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Elevated calcitonin, Pheochromocytoma, Nodular goiter, Medullary thyroid... OMIM:162300
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, Developmental cataract, Abnormal renal collecting system morphology, Aggressiv... OMIM:616809
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hyperactivity OMIM:604317
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabilit... ORPHA:248111
Wilson Disease
Osteoporosis, Joint hypermobility, Tremor, Dystonia, Dementia, Hyperphosphaturia, Aminoaciduria, ... OMIM:277900
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density, Joint stiffness, Cognit... ORPHA:577
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Proximal tubulopathy, Gait ataxia, Aminoaciduria OMIM:612075
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Olmsted Syndrome 1
Flexion contracture, Corneal opacity, Opacification of the corneal stroma OMIM:614594
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Interictal epileptiform ... ORPHA:1929
Familial Multinodular Goiter
Ovarian neoplasm, Multinodular goiter, Sertoli cell neoplasm, Testicular seminoma, Thyroid carcinoma ORPHA:276399
Hyperlysinemia, Type I
Cognitive impairment, Ectopia lentis, Hyperactivity OMIM:238700
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Macrotia, Posteriorly rotated ears, Anxiety, Hyperactivity OMIM:609425
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Optic nerve dysplasia, Renal cyst, Hydronephrosis, Opacification of the corneal ... OMIM:615287
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Fraxe Intellectual Disability
Prominent ear helix, Aggressive behavior, Hyperactivity ORPHA:100973
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Camptodactyly, Aminoaciduria, Cataract, Optic nerve dysplasia, Abnormality of t... OMIM:214110
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Flexion contracture of finger, Head tremor, Limb ataxia, Urinary ... ORPHA:101085
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Ataxia, EEG abnormality, Hyperactivity, Broad-based gait, Happy demeanor ORPHA:411515
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Hurler Syndrome
Progressive neurologic deterioration, Flexion contracture, Corneal opacity, Hearing impairment, O... OMIM:607014
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, Aggressive beh... ORPHA:168491
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Pten Hamartoma Tumor Syndrome
Thyroid adenoma, Thyroid carcinoma, Multinodular goiter ORPHA:306498
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Carney Complex
Pituitary growth hormone cell adenoma, Increased urinary cortisol level, Ovarian cyst, Elevated c... ORPHA:1359
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epiphyseal stippling, Brushfield spots, Camptodactyly, Cataract, Optic nerve dysplasia, Renal cys... OMIM:614866
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, EEG abnormality, Hyperactivity OMIM:618718
Mucopolysaccharidosis, Type Iva
Osteoporosis, Joint laxity, Chondroitin sulfate excretion in urine, Hearing impairment, Opacifica... OMIM:253000
Cockayne Syndrome A
Tremor, Dementia, Gait disturbance, Abnormality of the pinna, Ataxia, Cataract, Sensorineural hea... OMIM:216400
Sialidosis Type 2
Osteoporosis, Tremor, Flexion contracture, Corneal opacity, Nephropathy, Ataxia, Hearing impairment ORPHA:87876
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Adult Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Gait distur... ORPHA:206448
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Aminoaciduria OMIM:204730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Sensorineural hearing... ORPHA:1473
Sialidosis Type 1
Tremor, Gait disturbance, Aminoaciduria, Corneal opacity, Ataxia, Cataract, Sensorineural hearing... ORPHA:812
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity, Macrotia OMIM:300558
Ck Syndrome
Joint hypermobility, Aggressive behavior, Abnormal cortical bone morphology, Posteriorly rotated ... OMIM:300831
Dent Disease 1
Renal phosphate wasting, Delayed epiphyseal ossification, Low-molecular-weight proteinuria, Hyper... OMIM:300009
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Dent Disease
Hematuria, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:1652
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Aggressive behavior, Hearing impairment, Hyperactivity, Broad-based gait ORPHA:457260
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Joint stiffness OMIM:252605
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria ORPHA:2278
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Joint laxity, Hearing impairment, Opacification of the corneal stroma, Keratan sulf... OMIM:253010
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epiphyseal stippling, Brushfield spots, Albuminuria, Aminoaciduria, Posteriorly rotated ears, Cat... OMIM:214100
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, EEG abnormality, Aggressive behavior, Hyperactivity OMIM:617773
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Aminoaciduria, Ataxia, Cataract, Hearing ... ORPHA:910
Cockayne Syndrome B
Osteoporosis, Tremor, Abnormality of the pinna, Ataxia, Hypoplasia of the iris, Cataract, Sensori... OMIM:133540
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Dense calvaria, Hearing impairment, Jo... OMIM:252920
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Abnor... ORPHA:209905
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Rickets, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insuf... OMIM:613388
Mental Retardation, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Hydroureter, Conductive hearing impairment, Camptodactyly, Sagittal ... OMIM:201000
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, EEG with generalized slow activity, EEG with polyspike ... ORPHA:1942
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, Cataract, Multiple joint contractures, Generalized ... ORPHA:2959
Ck Syndrome
Joint hypermobility, Aggressive behavior, Posteriorly rotated ears, Irritability, Hyperactivity ORPHA:251383
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:618342
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Hearing impairment, Opacification of the corneal stroma, Microcornea,... OMIM:601499
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Brittle Cornea Syndrome 2
Keratoconus, Joint hypermobility, Decreased corneal thickness, Gait disturbance, Recurrent fractu... OMIM:614170
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Galloway-Mowat Syndrome 1
Dystonia, Focal segmental glomerulosclerosis, Macrotia, Camptodactyly, Ataxia, Hypoplasia of the ... OMIM:251300
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteoporosis, Metatarsal osteolysis, Camptodactyly of toe, Gait disturbance, Metacarpal osteolysi... OMIM:259600
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Familial Adenomatous Polyposis
Goiter, Neoplasm of the adrenal gland, Thyroiditis, Hypothyroidism, Abnormality of the thyroid gl... ORPHA:733
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Diabetes mellitus, Goiter, Hyperthyroidism ORPHA:254892
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Self-biting, Renal magnesium wasting, Hyperactivity OMIM:618314
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Hyperactivity, Blue irides OMIM:615516
Fanconi Renotubular Syndrome 1
Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Renal insufficiency, Renal tubu... OMIM:134600
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:308205
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Hypsarrhythmia, Multifocal epileptiform dischar... ORPHA:88616
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Flexion contracture, Corneal opacity, EEG abnormality, Hypospadias, Micro... OMIM:618815
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Pheochromocytoma, Thyroid nodule, Primary hyperparathyroidism, Elevated ... ORPHA:653
Stuve-Wiedemann Syndrome
Osteoporosis, Flexion contracture of toe, Abnormal autonomic nervous system physiology, Pathologi... OMIM:601559
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Axenfeld anomaly, Posterior embryotoxon, Posteriorly rotated ears, Ocular anterior ... OMIM:612582
Cerebrotendinous Xanthomatosis
Osteoporosis, Dystonia, Aggressive behavior, Gait disturbance, Resting tremor, Abnormal motor evo... ORPHA:909
Galactosemia Iii
Sensorineural hearing impairment, Aminoaciduria, Galactosuria OMIM:230350
Brachymesomelia-Renal Syndrome
Renal insufficiency, Opacification of the corneal stroma OMIM:113470
Pseudo-Torch Syndrome 1
Renal insufficiency, Cataract, Opacification of the corneal stroma OMIM:251290
Stimmler Syndrome
Aminoaciduria, Ataxia ORPHA:3199
Alpha-Mannosidosis, Adult Form
Oligosacchariduria, Corneal opacity, Ataxia, Cataract, Mixed hearing impairment, Anxiety, Osteope... ORPHA:309288
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impairment, Abnormally... OMIM:109120
Sotos Syndrome 3
Hyperactivity OMIM:617169
Dicarboxylic Aminoaciduria
Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Rheumatoid arthritis, Anterior chamber synechiae, Cataract, Oligoarthritis, ... ORPHA:85410
Tangier Disease
Facial diplegia, Opacification of the corneal stroma OMIM:205400
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Hydroxykynureninuria
Hearing impairment, Renal tubular dysfunction, Aminoaciduria OMIM:236800
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Opacification of the corneal stroma, Limitation of joint mobility OMIM:313400
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Proteinuria OMIM:615605
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Dystonia, Aminoaciduria, Athetosis, Sensorineural hearing impairment, Methylma... OMIM:612073
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Cowden Syndrome
Goiter, Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormality of the thyroid gland, Follic... ORPHA:201
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Dystonia, Aminoaciduria, Ataxia OMIM:250620
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Flexion contracture, Gait disturbance, Abnormal autonomic ne... ORPHA:35069
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Cognitiv... ORPHA:309246
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Joint laxity, Abnormality of the pinna, Hyperactivity, ... OMIM:300354
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Aggressive behavior, Corneal opacity, Cataract, Protruding ear, Microcornea, Astigmatism, Optic a... OMIM:152950
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, EEG abnormality, Hyperactivity ORPHA:500180
Galactose Epimerase Deficiency
Cataract, Aminoaciduria ORPHA:79238
Galactosialidosis
Conjunctival telangiectasia, Hearing impairment, Opacification of the corneal stroma OMIM:256540
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Tiglic Acidemia
Aminoaciduria OMIM:275190
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Aminoaciduria ORPHA:417
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hyperactivity,... ORPHA:363400
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Synostosis of carpal bones, Corneal opacity, Mega... ORPHA:2741
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Cockayne Syndrome Type 1
Tremor, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Contractures involving the joints... ORPHA:90321
Mosaic Trisomy 1
Camptodactyly of finger, Penile hypospadias, Renal cortical cysts, Abnormality of the pinna, Knee... ORPHA:1692
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Proximal renal tubular acidosis, Aggressive behavior, Hyperactivity OMIM:615824
Arthrogryposis, Distal, Type 2A
Restricted neck movement due to contractures, Flexion contracture of finger, Camptodactyly, Flexi... OMIM:193700
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Pallister-Hall Syndrome
Panhypopituitarism, Cryptorchidism, Adrenal hypoplasia, Decreased circulating cortisol level, Dec... OMIM:146510
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Cryptorchidism, Hypothyroidism, Ectopic thyroid, Thyroid hypoplasia, Thyroid dy... ORPHA:3047
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Craniosynostosis, Sensorineural hearing impairment, Conducti... OMIM:201050
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Craniosynostosis, Opacification of the corneal stroma OMIM:252600
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction, Aggressive behavior, Dementia, Gait di... ORPHA:43
Mucopolysaccharidosis, Type Vi
Dermatan sulfate excretion in urine, Hearing impairment, Opacification of the corneal stroma, Joi... OMIM:253200
Mucoepithelial Dysplasia, Hereditary
Hematuria, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconju... OMIM:158310
Cockayne Syndrome
Neurogenic bladder, Progressive sensorineural hearing impairment, Renal insufficiency, High-frequ... ORPHA:191
Mucopolysaccharidosis, Type Iiic
Dense calvaria, Hearing impairment, Motor deterioration, Joint stiffness, Heparan sulfate excreti... OMIM:252930
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity, Pseudopapilledema, Vesicoureteral reflux, Optic ... ORPHA:137902
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Tremor, Limitation of movement at ankles, Ataxia, EEG with abnormally slow... ORPHA:98794
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Stickler Syndrome Type 2
Cataract, Sensorineural hearing impairment, Corneal opacity ORPHA:90654
Phenylketonuria
Aminoaciduria ORPHA:716
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Dystonia, Narcolepsy, Aggressive behavior, Dementia... ORPHA:646
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Renal hypoplasia, Aminoaciduria, Cataract, Hydronephrosis, Osteopenia, Optic a... OMIM:617913
Farber Disease
Osteoporosis, Flexion contracture, Corneal opacity, Abnormal conjunctiva morphology, Opacificatio... ORPHA:333
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Bladder exstrophy, Hyperactivity, Astigmatism, ... OMIM:600268
Clcn4-Related X-Linked Intellectual Disability Syndrome
Aggressive behavior, Self-injurious behavior, Progressive cerebellar ataxia, Unsteady gait, Anxie... ORPHA:485350
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Senso... ORPHA:293603
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Pseudohypoparathyroidism Type 1A
Low urinary cyclic AMP response to PTH administration, Increased bone mineral density, Reduced bo... ORPHA:79443
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity, Rapid neurologic deterioration, Cataract, Sensorineural h... ORPHA:585
Cystinosis
Rickets, Gait disturbance, Aminoaciduria, Nephropathy, Corneal opacity, Renal insufficiency, Rena... ORPHA:213
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma OMIM:211370
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Ataxia, Sensorineural hearing impairment, Methylmalonic aciduria, Decreased nerve ... ORPHA:1933
Infantile Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Psychomotor... ORPHA:206436
Lathosterolosis
Horseshoe kidney, Cataract, Hearing impairment, Opacification of the corneal stroma, Microcornea,... ORPHA:46059
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Heparan sulfate excretion in urine, Hearing impairment, Joint stiffness, Hyperact... OMIM:252900
Coffin-Siris Syndrome 7
Macrotia, Sagittal craniosynostosis, Posteriorly rotated ears, Hearing impairment, Hyperactivity OMIM:618027
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Megalocornea, Pathologic fracture, Opacification of the corneal stroma, Os... OMIM:252500
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic di... OMIM:619260
Cutis Laxa, Autosomal Recessive, Type Iiia
Joint hypermobility, Macrotia, Cataract, Athetosis, Corneal arcus OMIM:219150
Smith-Magenis Syndrome
Self-mutilation, Abnormal renal morphology, Morphological abnormality of the middle ear, Abnormal... OMIM:182290
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Aggressive behavior, Ataxia, EEG abnormality, Hyperactivity OMIM:610042
Combined Oxidative Phosphorylation Deficiency 14
Hearing impairment, EEG abnormality, Aminoaciduria OMIM:614946
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Lethargy, Aminoaciduria OMIM:619386
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Hyperphosphaturia, Bilateral sensorineural hearing impa... ORPHA:436271
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Ataxia ORPHA:33574
Lcat Deficiency
Renal insufficiency, Hematuria, Corneal opacity, Proteinuria ORPHA:650
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Knobloch Syndrome 1
Developmental cataract, Ataxia, Band keratopathy, Peripapillary atrophy, Mental deterioration OMIM:267750
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Joint hyperflexibility, Aganglionic megacolon, Ataxia, Hyperactivity, ... ORPHA:52503
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal scarring, Abnormality of corneal stroma, Sensorineural hearing impairment, Keratoconjunct... OMIM:148210
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Renal potassium was... ORPHA:18
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... OMIM:608643
Inverted Duplicated Chromosome 15 Syndrome
Joint hypermobility, Aggressive behavior, Low-set, posteriorly rotated ears, Unilateral renal age... ORPHA:3306
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuria, Stage 5 chronic... OMIM:618913
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Abnormality of the pinna, Cataract, Hea... OMIM:123450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Lathosterolosis
Osteoporosis, Horseshoe kidney, Conductive hearing impairment, Cataract, Pathologic fracture, Opa... OMIM:607330
Hyperlysinemia
Decreased urine alpha-ketoglutarate concentration, Tremor, Craniosynostosis, EEG with spike-wave ... ORPHA:2203
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Dysmetria, Intention... OMIM:610217
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Joint hyperflexibility, Gait disturbance, Corneal opacity, Reduced bone mi... ORPHA:582
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Corneal opacity, Attention deficit hyperactivity ... ORPHA:281090
Hereditary Acrokeratotic Poikiloderma
Abnormal renal tubule morphology, Camptodactyly of finger, Joint hyperflexibility, Hearing impair... ORPHA:2907
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Opt... ORPHA:320406
Gracile Syndrome
Aminoaciduria OMIM:603358
Galactosemia I
Albuminuria, Aminoaciduria, Cataract, Increased level of galactitol in urine, Galactosuria OMIM:230400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Macrotia, Camptodactyly, Ataxia, Multifocal epileptiform discharges, Ocular ... ORPHA:369891
Methionine Malabsorption Syndrome
Aminoaciduria, Blue irides OMIM:250900
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Scheie Syndrome
Mucopolysacchariduria, Abnormal nerve conduction velocity, Corneal opacity, Sensorineural hearing... ORPHA:93474
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Joint laxity, Astigmatism, Low frustration tolerance, Optic nerve hypoplasia, Hy... ORPHA:363686
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Hypsarrhythmia, Ataxia, Urinary incontinence, Hyperactivity OMIM:300912
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Aggressive behavior, Hyperactivity ORPHA:101039
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response, Dementia, Dystonia OMIM:272750
Intellectual Disability, Birk-Barel Type
Congenital finger flexion contractures, Fatiguable weakness of proximal limb muscles, Fatigable w... ORPHA:166108
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Dermotrichic Syndrome
EEG abnormality, Aganglionic megacolon, Aminoaciduria, Macrotia ORPHA:99688
Mental Retardation, Autosomal Dominant 7
Thickened helices, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, Hyperactivity, H... OMIM:614104
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Angelman Syndrome
Inability to walk, Keratoconus, Tremor, Iris hypopigmentation, Aggressive behavior, Broad-based g... ORPHA:72
Gyrate Atrophy Of Choroid And Retina
Cataract, Hearing impairment, Subcapsular cataract, Aminoaciduria ORPHA:414
D-Glyceric Aciduria
Opisthotonus, Sensorineural hearing impairment, Aminoaciduria, Hypsarrhythmia OMIM:220120
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:600430
Tay-Sachs Disease
Inability to walk, Limited elbow extension, Tremor, Dystonia, Limited knee extension, Gait distur... ORPHA:845
H Syndrome
Osteolysis, Enlarged kidney, Camptodactyly, Recurrent fractures, Corneal arcus, Hearing impairmen... ORPHA:168569
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Sensorineural hearing impairment, Bilateral sensorineural hearing impairment, Hyper... ORPHA:73272
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Bartsocas-Papas Syndrome 1
Axillary pterygium, Arthrogryposis multiplex congenita, Flexion contracture, Cupped ear, Pterygiu... OMIM:263650
Familial Dysautonomia
Osteolysis, Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Gait disturbance, Rec... ORPHA:1764
Glaucoma 3, Primary Congenital, D