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 1.78×10-07
decreased bone mineral density Slc5a5tm1b(KOMP)Wtsi HOM Early adult 4.87×10-07
increased startle reflex Slc5a5tm1b(KOMP)Wtsi HOM Early adult 2.29×10-05
abnormal auditory brainstem response Slc5a5tm1b(KOMP)Wtsi HOM   Early adult 2.44×10-08
increased exploration in new environment Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.45×10-07
decreased exploration in new environment Slc5a5tm1b(KOMP)Wtsi HOM Early adult 7.36×10-06
decreased prepulse inhibition Slc5a5tm1b(KOMP)Wtsi HOM Early adult 5.90×10-07
hyperactivity Slc5a5tm1b(KOMP)Wtsi HOM   Early adult 3.52×10-06
corneal deposits Slc5a5tm1b(KOMP)Wtsi HOM Early adult 2.00×10-05
abnormal sleep behavior Slc5a5tm1b(KOMP)Wtsi HOM Early adult 5.33×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 564)
aorta 0.18% (1 of 557)
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
epididymis 13.48% (19 of 141)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 554)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
submandibular gland 1.49% (2 of 134)
testis 1.08% (6 of 553)
thalamus 0.0%
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
urinary bladder 0.0%
uterus 0.35% (2 of 566)
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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Forepaw

10 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

2 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
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... 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
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone 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
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Blepharochalasis And Double Lip
Goiter OMIM:109900
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:319487
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Goiter, Papillary thyroid carcinoma ORPHA:97290
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... OMIM:274300
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Cognitive impairment OMIM:238700
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T3, Graves disease, Goiter OMIM:275000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria, Rickets, Corneal crystals OMIM:219900
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter OMIM:255900
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency OMIM:210740
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Abnormal cornea morphology, Aminoaciduria, Cognitive impairment, Glyco... ORPHA:411629
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism OMIM:613239
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Hearing impairment, Ribbonlike corneal degeneration OMIM:121450
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
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
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Hypothyroidism ORPHA:226292
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Goiter, Thyroid carcinoma ORPHA:705
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, EEG abnormality, Hyperglycinuria, Hyperactivity, Aggressive behavior OMIM:239500
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... ORPHA:1332
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Familial Gestational Hyperthyroidism
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goi... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goi... ORPHA:424
Maffucci Syndrome
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the adrenal cortex, Neoplas... ORPHA:163634
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Abnormal cornea morphology, Chronic kidney disease, Aminoaciduria, Glyco... ORPHA:411634
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration, Optic... OMIM:252650
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Cystinosis, Nephropathic
Nephrolithiasis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, R... OMIM:219800
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:226313
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Increased urinary disaccharide excretion, Opacification of... OMIM:271630
Anaplastic Thyroid Carcinoma
Nodular goiter, Goiter, Anaplastic thyroid carcinoma ORPHA:142
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Osteomyelitis, Hyperactivity, Abnormal autonomic... OMIM:256800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Increased urinary disaccharide excretion, Aggr... OMIM:248510
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Ankle flexion contracture, Hyperactivity, Irritability OMIM:616657
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
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
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Testicu... ORPHA:457059
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Osteopenia, Hyperactivity OMIM:608747
Ocular Cystinosis
Corneal crystals ORPHA:411641
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Cowden Syndrome 7
Goiter, Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ OMIM:616858
Saccharopinuria
Citrullinuria, Histidinuria, EEG abnormality, Hyperlysinuria, Saccharopinuria OMIM:268700
Morm Syndrome
Hyperactivity, Micropenis, Abnormality of the kidney, Cataract, Aggressive behavior ORPHA:75858
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Opacification of the corneal stroma, Generalized bone demineralization, Prote... OMIM:215250
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cowden Syndrome 5
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... OMIM:615108
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Hypsarrhythmia OMIM:619970
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... ORPHA:90674
Cowden Syndrome 6
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... OMIM:615109
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Pediatric-Onset Graves Disease
Graves disease, Increased circulating free T3, Increased circulating T4 concentration, Goiter, Pu... ORPHA:525731
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Self-injurious behavior, Craniosynostosis, Cognitive impairment, Opacification of ... OMIM:601853
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacifi... OMIM:310600
Phenylketonuria
Hyperactivity, Blue irides, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, C... OMIM:261600
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Recurrent urinary tract infections, Limited elbow ext... OMIM:244600
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Congenital Hypothyroidism
Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypothyroidism, H... ORPHA:442
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Hypothyroidism, Congenital, Nongoitrous, 2
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thyroid-stimulat... OMIM:218700
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... OMIM:160980
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... ORPHA:562
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Glycine Encephalopathy
Hyperglycinuria, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Elbow flexion contracture OMIM:619470
Cowden Syndrome 1
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Ovarian carcinoma, Thyro... OMIM:158350
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Corneal arcus OMIM:144300
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity OMIM:277950
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Mucopolysacchariduria OMIM:252700
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior OMIM:300983
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... ORPHA:98818
Mucopolysaccharidosis Type 6
Joint stiffness, Cognitive impairment, Opacification of the corneal stroma, Mucopolysacchariduria... ORPHA:583
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Mental deterioration, Aggressive behavior, EEG with focal sharp s... ORPHA:2382
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Tremor, Hyperactivity, Dystonia OMIM:615924
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Hyperactivity, Elevated urinary 4-hydroxybutyric acid, ... OMIM:271980
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Tsh-Secreting Pituitary Adenoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Enlarged pituitary gl... ORPHA:91347
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... ORPHA:320401
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... ORPHA:652
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis, Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discha... OMIM:619827
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria ORPHA:1325
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Sensorineural hearing impairment, Narcolepsy, Resting tremor, Mental deterioration, Head tremor, ... ORPHA:314404
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Cognitive impairment, Reduced bone mineral density, Craniofacia... ORPHA:577
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Rasmussen Subacute Encephalitis
EEG with focal spikes, Hyperactivity, Irritability, Continuous spike and waves during slow sleep,... ORPHA:1929
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Sensorineural hearing impairment, Narcolepsy, Memory impairment, Optic atrophy, Dementia OMIM:604121
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma, Flexion contracture OMIM:614594
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Multiple Endocrine Neoplasia, Type Iib
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Parathyroid h... OMIM:162300
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Optic atrophy, Cataract, Mucopolysacchariduria, Joint stiffne... ORPHA:581
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Focal EEG discharg... ORPHA:3077
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... ORPHA:90673
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter ORPHA:276399
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... ORPHA:206443
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Saccharopinuria
Citrullinuria, Cystinuria, Cognitive impairment, Mental deterioration, Tremor, Hyperlysinuria ORPHA:3124
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Opacification of the corneal stroma, Renal dysplasia, Optic nerve dysplasia, Renal cy... OMIM:615287
Hurler Syndrome
Joint stiffness, Corneal opacity, Flexion contracture, Calvarial hyperostosis, Opacification of t... OMIM:607014
Ophthalmomandibulomelic Dysplasia
Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma OMIM:164900
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Joint contracture of the hand, Aminoaciduria, Opacification of the cor... OMIM:214110
Pten Hamartoma Tumor Syndrome
Multinodular goiter, Thyroid carcinoma, Thyroid adenoma ORPHA:306498
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Peroxisome Biogenesis Disorder 5A (Zellweger)
Abnormal helix morphology, Opacification of the corneal stroma, Optic nerve dysplasia, Camptodact... OMIM:614866
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbo... OMIM:604278
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Bilateral renal atrophy, Metatarsal osteolysis, Osteopenia, Carpal osteolysis, P... OMIM:166300
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Sensorineural hearing impairment, Aminoaciduria, Methylmalonic aciduria, Athetos... OMIM:612073
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Chromosome 6Pter-P24 Deletion Syndrome
Sensorineural hearing impairment, Axenfeld anomaly, Posterior embryotoxon, Opacification of the c... OMIM:612582
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Hyperactivity, Self-injurious behavior, Tremor, Low-set ears OMIM:618718
Mucolipidosis Iii Gamma
Joint stiffness, Opacification of the corneal stroma OMIM:252605
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Premature thelarche, Type I diabetes mellitus, Nodular goiter ORPHA:371428
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Carpenter Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Joint... OMIM:201000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Posterior embryotoxon, Hematuria, Optic atroph... ORPHA:1473
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... ORPHA:88616
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Cognitive impairment, Low-molecular-weight proteinuria, Hy... OMIM:300555
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Aminoaciduria OMIM:204730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Osteoporosis, Joint laxity, Hearing impairment, Keratan sulf... OMIM:253010
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria ORPHA:2278
Dent Disease
Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Cataract, Proteinuria, Proximal tubulop... ORPHA:1652
Dent Disease 1
Renal phosphate wasting, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabec... OMIM:300009
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Osteopenia, Opacification of the corneal stroma, Astigmatism, Focal segmental... OMIM:242900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Abnormality of the thyroid gland, Thyroid dysgenesis, Compensated hypothyroid... ORPHA:209905
Brachymesomelia-Renal Syndrome
Low-set ears, Opacification of the corneal stroma, Renal insufficiency OMIM:113470
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Osteoporosis, Joint ... OMIM:253000
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Flexion contracture, Abnormal autonomic nervous ... ORPHA:99027
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Peroxisome Biogenesis Disorder 1A (Zellweger)
Sensorineural hearing impairment, Abnormal helix morphology, Aminoaciduria, Hypospadias, Opacific... OMIM:214100
Ck Syndrome
Hyperactivity, Aggressive behavior, Joint hypermobility, Abnormal cortical bone morphology, Poste... OMIM:300831
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract, Renal insufficiency, Low-set ears, Dystonia OMIM:251290
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hyperactivity, Heparan sulfate excretion in urine, Dense calvaria, Progressive n... OMIM:252920
Fanconi Renotubular Syndrome 2
Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal ... OMIM:613388
Cutis Laxa, Autosomal Recessive, Type Iiia
Joint hypermobility, Athetosis, Cataract, Macrotia, Low-set ears, Corneal arcus OMIM:219150
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Hearin... OMIM:601499
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Goiter, Hyperthyroidism, Diabetes mellitus ORPHA:254892
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Unilateral renal agenesis, Multicystic kidney dysplasia, Opacification of the corneal ... OMIM:308205
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Joint contracture of the hand, Diffuse mesangial sclerosis, Opacification of ... OMIM:251300
Sialidosis Type 2
Corneal opacity, Flexion contracture, Nephropathy, Osteoporosis, Tremor, Hearing impairment ORPHA:87876
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, EEG with general... ORPHA:168491
Familial Adenomatous Polyposis
Thyroiditis, Pituitary adenoma, Abnormality of the thyroid gland, Neoplasm of the adrenal gland, ... ORPHA:733
Xeroderma Pigmentosum
Sensorineural hearing impairment, Keratitis, EEG abnormality, Aminoaciduria, Cognitive impairment... ORPHA:910
Cln5 Disease
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Mental deterioration, Anxiet... ORPHA:228360
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Happy demeanor, EEG abnormality, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Self-biting, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Osteomalacia, Renal insufficiency, Proteinu... OMIM:134600
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, EEG abnormality, Flexion contracture, Micropenis, Hypospadias, Developmental cat... OMIM:618815
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Cockayne Syndrome A
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... OMIM:216400
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... OMIM:133540
Proximal Renal Tubular Acidosis
Nephrolithiasis, Band keratopathy, Aminoaciduria, Reduced bone mineral density, Hyperuricosuria, ... ORPHA:47159
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Joint laxity, Aggressive behavior, Hyperactivity ORPHA:457260
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Band keratopathy, Cognitive impairment, Micropenis, Osteopenia, Hypo... ORPHA:2959
Tangier Disease
Facial diplegia, Opacification of the corneal stroma OMIM:205400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Corneal opacity, Metatarsal osteolysis, Peripheral opacification of the cornea, ... OMIM:259600
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Hearing impairment, Aminoaciduria, Irritability OMIM:609560
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Band keratopathy, Rheumatoid arthritis, Anterior chamber synechiae, Cataract, Kne... ORPHA:85410
Sialidosis Type 1
Sensorineural hearing impairment, Corneal opacity, EEG abnormality, Decreased nerve conduction ve... ORPHA:812
Galactosemia Iii
Sensorineural hearing impairment, Aminoaciduria, Galactosuria OMIM:230350
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... OMIM:109120
Dicarboxylic Aminoaciduria
Nephrolithiasis, Aminoaciduria, Aspartic aciduria OMIM:222730
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Parathyroid adenoma, Elevated circulating parathyroid hormone level,... ORPHA:653
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Tyrosinemia Type 1
Rickets of the lower limbs, Generalized aminoaciduria ORPHA:882
Juvenile Huntington Disease
Hyperactivity, Dystonia, Irritability, Dementia ORPHA:248111
Myoclonic-Astatic Epilepsy
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal emotion/af... ORPHA:1942
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma OMIM:169550
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Opacification of the corneal stroma, Limitation of joint mobility OMIM:313400
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Hyperactivity, Blue irides, Self-mutilation OMIM:615516
Galactosialidosis
Hearing impairment, Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Cowden Syndrome
Abnormality of the thyroid gland, Follicular thyroid carcinoma, Adenoma sebaceum, Goiter, Enlarge... ORPHA:201
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Galactose Epimerase Deficiency
Cataract, Aminoaciduria ORPHA:79238
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Hematuria,... OMIM:158310
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Protruding ear, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Optic atrophy, Cat... OMIM:152950
Tiglic Acidemia
Aminoaciduria OMIM:275190
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Aminoaciduria ORPHA:417
Adult Krabbe Disease
EEG abnormality, Mental deterioration, Progressive neurologic deterioration, Prolonged brainstem ... ORPHA:206448
Mosaic Trisomy 1
Abnormal pinna morphology, Renal cortical cysts, Micropenis, Camptodactyly of finger, Knee joint ... ORPHA:1692
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Craniosynostosis OMIM:252600
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Low-set ears, Opacification of the corneal stroma, Cataract OMIM:211370
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased circulating ... OMIM:146510
Bietti Crystalline Dystrophy
Crystalline corneal dystrophy ORPHA:41751
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Hyperactivity, Progressive language deterioration, Self-muti... ORPHA:163681
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Thyroid agenesis, Crypto... ORPHA:3047
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, EEG abnormality, Optic nerve hypoplasia, Pseudopapilledema, Aplasia/Hypoplasia o... ORPHA:137902
Farber Disease
Corneal opacity, Flexion contracture, Opacification of the corneal stroma, Osteoporosis, Arthriti... ORPHA:333
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Megalocornea, Synostosis of carpal bones, Abnormality o... ORPHA:2741
Stickler Syndrome Type 2
Sensorineural hearing impairment, Corneal opacity, Cataract ORPHA:90654
Alpha-Mannosidosis, Adult Form
Corneal opacity, Oligosacchariduria, Osteopenia, Mixed hearing impairment, Anxiety, Optic disc pa... ORPHA:309288
Arthrogryposis, Distal, Type 2A
Hip contracture, Recurrent fractures, Flexion contracture of finger, Joint contracture of the han... OMIM:193700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Progressive neurologic deterioration, Proximal tubulopathy OMIM:612075
Phenylketonuria
Aminoaciduria ORPHA:716
Oculoectodermal Syndrome
Hyperactivity, Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Bla... OMIM:600268
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Hyperactivity, Dystonia, Aggressive behavior ORPHA:500180
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Stuve-Wiedemann Syndrome 1
Low-set ears, Abnormal autonomic nervous system physiology, Opacification of the corneal stroma, ... OMIM:601559
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Irritability, Mental deterioration, Progressiv... ORPHA:206436
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Band keratopathy, Increased bone mineral density, Laryngeal dys... ORPHA:79443
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal opacity, Irregular astigmatism, Corneal stromal edema, ... ORPHA:293603
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Optic atrophy, Cataract, Muco... ORPHA:585
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Infantile Neuroaxonal Dystrophy
Hyperactivity, Abnormal autonomic nervous system physiology, Flexion contracture, Mental deterior... ORPHA:35069
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Lathosterolosis
Hypoplasia of penis, Opacification of the corneal stroma, Microcornea, Horseshoe kidney, Cataract... ORPHA:46059
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hyperactivity, Heparan sulfate excretion in urine, Dense calvaria, Motor deterio... OMIM:252930
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Hyperactivity, Cognitive impairment, Progressive hearing i... ORPHA:43
Mucolipidosis Ii Alpha/Beta
Craniosynostosis, Osteopenia, Megalocornea, Opacification of the corneal stroma, Camptodactyly, P... OMIM:252500
Fragile X Syndrome
Hyperactivity, Joint laxity, Self-biting, Macrotia OMIM:300624
Encephalopathy Due To Sulfite Oxidase Deficiency
Ectopia lentis, Aminoaciduria ORPHA:833
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Combined Oxidative Phosphorylation Deficiency 14
Hearing impairment, EEG abnormality, Aminoaciduria OMIM:614946
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Cataract, Abnormal auditory evoked potentials OMIM:619260
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Anxiety, Nephroblastoma, Cataract, Aggressive behavior, Proteinuria, Emotional l... OMIM:612469
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Optic nerve hypoplasia, Hypospadias, Astigmatism, Hyperopic astig... ORPHA:363686
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Aminoaciduria OMIM:250620
Cockayne Syndrome
Corneal ulceration, Band keratopathy, Abnormal renal physiology, Mental deterioration, Optic atro... ORPHA:191
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Finger joint hypermobility, Anxiety, Limited elbow extension, Attention deficit hy... OMIM:301069
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Abnormality of peripheral nerve conduction, Optic atrophy, T... ORPHA:90321
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Abnormal renal tubule morphology, Camptodactyly of finger, Keratoc... ORPHA:2907
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Niemann-Pick Disease Type C
Narcolepsy, Apathy, Axial dystonia, Dementia, Cognitive impairment, Intention tremor, Mental dete... ORPHA:646
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlarged lacrimal gl... ORPHA:79078
Cystinosis
Renal tubular dysfunction, Corneal opacity, Aminoaciduria, Nephropathy, Proteinuria, Renal insuff... ORPHA:213
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Self-mutilation, Joint hyperflexibility, Athetosis, Dystonia ORPHA:52503
Subaortic Stenosis--Short Stature Syndrome
Low-set ears, Opacification of the corneal stroma, Microcornea OMIM:271960
Lathosterolosis
Conductive hearing impairment, Opacification of the corneal stroma, Osteoporosis, Pathologic frac... OMIM:607330
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, St... OMIM:618913
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration... ORPHA:18
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Corneal opacity, Attention deficit hyperactivity disorder, Renal insuf... ORPHA:281090
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Scheie Syndrome
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Mucopolysacchariduria, Limita... ORPHA:93474
Methionine Malabsorption Syndrome
Blue irides, Aminoaciduria OMIM:250900
Gracile Syndrome
Aminoaciduria OMIM:603358
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Decreased nerve conduction velocity, Hand tremor, Ami... OMIM:277900
Zellweger Syndrome
Sensorineural hearing impairment, Corneal opacity, EEG abnormality, Cognitive impairment, Hypospa... ORPHA:912
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, EEG abnormality, Hyperactivity, Limitation of movement at ankles, EEG with abnorm... ORPHA:98794
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Dermotrichic Syndrome
Aminoaciduria, EEG abnormality, Aganglionic megacolon, Macrotia ORPHA:99688
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hyperactivity, Heparan sulfate excretion in urine, Dense calvaria, Hearing impai... OMIM:252900
Bartsocas-Papas Syndrome 1
Corneal ulceration, Flexion contracture, Microtia, Micropenis, Cupped ear, Popliteal pterygium, O... OMIM:263650
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Osteopenia, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis OMIM:617913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Flexion contracture, Camptodactyly, Renal hypoplasia, 3-Methylglutaconic aciduria,... OMIM:604273
Galactosemia I
Increased level of galactitol in urine, Aminoaciduria, Cataract, Galactosuria, Albuminuria OMIM:230400
Hepatic Lipase Deficiency
Corneal arcus OMIM:614025
Phace Association
Congenital hypothyroidism, Lingual thyroid OMIM:606519
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Sensorineural hearing impairment, Methylmalonic aciduria, Decreased nerve conduction velocity, Am... ORPHA:1933
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hearing impairment, Cataract, Aminoaciduria ORPHA:414
Lcat Deficiency
Corneal opacity, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute ki... ORPHA:650
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave complexes, O... OMIM:619913
Legius Syndrome
Nephrolithiasis, Hyperactivity, Male urethral meatus stenosis, Cognitive impairment, Vestibular s... ORPHA:137605
Narcolepsy 3
Narcolepsy OMIM:609039
H Syndrome
Recurrent fractures, Micropenis, Abnormality of the kidney, Camptodactyly, Enlarged kidney, Osteo... ORPHA:168569
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Proteinuria, Arthrogryposis multi... OMIM:613404
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Blau Syndrome
Band keratopathy, Iritis, Camptodactyly of finger, Arthritis, Abnormal cranial nerve morphology, ... OMIM:186580
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity, Nocturia, Urinary urgency, Urinary hesitancy, Ur... OMIM:609727
Narcolepsy 1
Narcolepsy OMIM:161400
Mucopolysaccharidosis Type 4
Corneal opacity, Cognitive impairment, Reduced bone mineral density, Mucopolysacchariduria, Heari... ORPHA:582
Narcolepsy 7
Narcolepsy OMIM:614250
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis, Macrotia OMIM:618504
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Renal insufficiency, Aminoaciduria OMIM:619386
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Optic atrophy, Renal Fanconi syndrome, Prot... ORPHA:436271
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Joint ... ORPHA:449291
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Chronic kidney disease, Bicarbonate-wasting re... ORPHA:3337
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Rickets OMIM:616026
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Alagille Syndrome 1
Band keratopathy, Renal tubular acidosis, Abnormal anterior chamber morphology, Axenfeld anomaly,... OMIM:118450
Hyperlysinemia
Argininuria, Hyperactivity, EEG with spike-wave complexes, Opisthotonus, Craniosynostosis, Cystin... ORPHA:2203
Mend Syndrome
Hyperactivity, Cataract, Aggressive behavior, Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Fryns Syndrome
Abnormal helix morphology, Joint contracture of the hand, Renal agenesis, Hypospadias, Opacificat... OMIM:229850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response, Flexion contracture OMIM:609541
Al-Gazali Syndrome
Recurrent fractures, Corneal opacity, Proximal radio-ulnar synostosis, Osteopenia, Wrist flexion ... OMIM:609465
Angelman Syndrome
Happy demeanor, EEG abnormality, Hyperactivity, Self-injurious behavior, Anxiety, Astigmatism, Op... ORPHA:72
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Tubulointerstitial nephritis, Band keratopathy, Cata... ORPHA:279914
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Multiple joint contractures, Optic disc pallor, Exaggerated startle response ORPHA:320406
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Opacification of the corneal stroma ORPHA:79280
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Knobloch Syndrome 1
Band keratopathy, Lens subluxation, Renal duplication, Bifid ureter, Optic disc pallor, Duplicate... OMIM:267750
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome