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Gene: Ap1g1 MGI:101919

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Gene Summary

Name:
adaptor protein complex AP-1, gamma 1 subunit
Synonyms:
gamma-adaptin,  D8Ertd374e,  Adtg

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.28×10-12
embryonic lethality prior to organogenesis Ap1g1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
preweaning lethality, complete penetrance Ap1g1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased bone mineral content Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 9.60×10-12
decreased lean body mass Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.16×10-09
cataract Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 2.49×10-06
hyperactivity Ap1g1tm1b(EUCOMM)Hmgu HET   Early adult 9.65×10-07
abnormal retina morphology Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.68×10-07
increased vertical activity Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.29×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

40 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

View images

Human diseases caused by Ap1g1 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 Ap1g1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity OMIM:619467
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Posteriorly rotated ears OMIM:619548

The table below shows human diseases predicted to be associated to Ap1g1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity, Decreased body weight OMIM:616311
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Recurrent ot... OMIM:615993
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Pendred Syndrome
Thyroid carcinoma, Cochlear malformation, Abnormal vestibular function, Compensated hypothyroidis... OMIM:274600
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Central heterochromia, Small for gestation... OMIM:275400
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Abnormal vestib... OMIM:611102
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614322
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Hyperleucine-Isoleucinemia
Failure to thrive, Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Retinitis Pigmentosa Inversa With Deafness
External genital hypoplasia, Rod-cone dystrophy, Retinitis pigmentosa inversa, Sensorineural hear... OMIM:268010
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Goiter, Sensorineural hearing impairment, Incomplete partition of t... OMIM:600791
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Ataxia, Abnormal nervo... OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cataract, Limb ataxia, Spastic gait OMIM:617133
Pendred Syndrome
Hypothyroidism, Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, E... ORPHA:705
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Bardet-Biedl Syndrome 18
Retinal dystrophy, Rod-cone dystrophy, Cataract, Obesity OMIM:615995
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Truncal obesity ORPHA:75858
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Bone... OMIM:618889
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Concentric hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, ... OMIM:204200
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Hypertension, Congestive heart failure, Olig... OMIM:615703
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Retinal dystrophy, Goiter, Secondary amenorrhea OMIM:617175
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, EEG abnormality, Retinal degeneration, Macular degeneration, Ataxia, Increased neu... OMIM:256730
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism ORPHA:356996
Autosomal Recessive Spastic Paraplegia Type 46
Impaired vibration sensation at ankles, Cerebral cortical atrophy, Decreased testicular size, Tru... ORPHA:320391
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Cryptorchidi... OMIM:615982
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Abnormal nervous system electrophysiology, Increased neuronal autofluoresce... OMIM:601780
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Abnormal vesti... OMIM:520000
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration, Reduced sperm m... OMIM:602271
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Dilated card... OMIM:615981
Ravine Syndrome
Decreased body weight, Abnormal auditory evoked potentials, Ataxia, Failure to thrive, Atrophy/De... ORPHA:99852
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Dysdiadochokinesis, Retinal degeneration, Ataxia, Dysmetria, Loss of a... OMIM:256731
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Congenital Hypothyroidism
Hypotension, Hypothyroidism, Paresthesia, Hypogonadism, Optic atrophy, Anterior hypopituitarism, ... ORPHA:442
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Fragile X Syndrome
Congenital macroorchidism, Macrotia, Periventricular heterotopia, Abnormal head movements, Recurr... OMIM:300624
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Delayed ossification of carpal bones, Inguinal ... OMIM:618392
Primary Dystonia, Dyt13 Type
Jerky head movements, Abnormal repetitive mannerisms ORPHA:98807
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Cataract, Hyperactivity ORPHA:85288
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation OMIM:600546
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peri... OMIM:617879
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Hearing impairment, Goiter OMIM:617577
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, A... OMIM:249270
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Thyrocerebroretinal Syndrome
Ataxia, Sensorineural hearing impairment, Goiter OMIM:274240
Cataract 42
Cataract, Developmental cataract OMIM:115900
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Chorea, Thyroid hemiagenesis, Sensorineural hearing impairment, ... ORPHA:209905
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Vertigo ORPHA:71518
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment, Nonprogressive cerebellar ataxia ORPHA:3327
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Sensorineural hearing impairment, Optic atrophy, Retinal degeneration,... OMIM:300438
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Hypogonadism, Retinal atrophy, Type II diabetes mellitus, Infertility, Oligomenor... ORPHA:412057
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormal spermatogenesis, Abnormality of the mid... ORPHA:90646
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration, Ataxia, Puberty and gonadal disorders, Failure to thriv... ORPHA:79320
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Sensorineural hearing impairment, Elevated circulating thyro... ORPHA:95716
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... ORPHA:457059
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Graves Disease, Susceptibility To, 1
Weight loss, Congestive heart failure, Increased circulating free T3, Decreased thyroid-stimulati... OMIM:275000
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal sensory impairment OMIM:619764
Usher Syndrome, Type Iv
Sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal atrophy, Retinal d... OMIM:618144
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Cerebral co... OMIM:604360
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Thyroid Cancer, Nonmedullary, 4
Papillary thyroid carcinoma, Prostate cancer, Goiter, Ovarian neoplasm OMIM:616534
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Limb ataxia, Impai... ORPHA:251282
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... OMIM:601382
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Pr... OMIM:210740
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Huntington Disease-Like 1
Gait ataxia, Chorea, Cerebral cortical atrophy, Weight loss, EEG abnormality, Abnormal head movem... ORPHA:157941
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Compulsive behaviors ORPHA:100973
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Macular Degeneration, Age-Related, 3
Macular degeneration, Distal sensory impairment, Choroidal neovascularization, Decreased nerve co... OMIM:608895
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Type II diabetes mel... ORPHA:247815
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Abnormal head movements, EEG with foca... ORPHA:139431
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Deafness-Infertility Syndrome
Azoospermia, Male infertility, Sensorineural hearing impairment ORPHA:94064
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Tsh-Secreting Pituitary Adenoma
Hypotension, Enlarged pituitary gland, Impotence, Decreased female libido, Ventricular arrhythmia... ORPHA:91347
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Hypergastrinemia, Optic atrophy OMIM:252650
Flynn-Aird Syndrome
Rod-cone dystrophy, Increased bone density with cystic changes, Increased bone mineral density, A... OMIM:136300
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Retinal degeneration, Interictal EEG abnormality, Abnormal repetitive man... ORPHA:79264
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... ORPHA:8
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Angioid streaks of the fundus, Thyroiditis, Hydrocele testis, Th... OMIM:615108
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Angioid streaks of the fundus, Thyroiditis, Hydrocele testis, Th... OMIM:615109
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Retinal deg... OMIM:619260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... OMIM:613239
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration, Sensorineural hearing impairment, Large earlobe OMIM:612948
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Immunodeficiency 19
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... OMIM:615617
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Senior-Loken Syndrome
Retinal dystrophy, Ataxia, Abnormality of retinal pigmentation, Cataract, Abnormality of bone min... ORPHA:3156
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Microspherophakia With Hernia
Retinal detachment, Inguinal hernia, Microspherophakia, Superior lens subluxation OMIM:157150
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy, Ataxia, Neuronal loss in central nervous system, Cerebral at... OMIM:610127
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity grade 4, EEG with series of focal spikes, Inability to walk, R... ORPHA:168491
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Episodic Ataxia Type 4
Abnormal head movements, Ataxia, Vertigo ORPHA:79136
Guanidinoacetate Methyltransferase Deficiency
Chorea, Athetosis, Ataxia, Abnormal head movements ORPHA:382
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spinocerebellar Ataxia 7
Chorea, Optic atrophy, Macular degeneration, Dysmetria, Progressive cerebellar ataxia, Pigmentary... OMIM:164500
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Non-Specific Early-Onset Epileptic Encephalopathy
Brain atrophy, Optic atrophy, Retinal degeneration, Hypsarrhythmia, Ataxia, Failure to thrive, EE... ORPHA:442835
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Functioning Gonadotropic Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... ORPHA:91348
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia ORPHA:3233
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... OMIM:251270
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping OMIM:309548
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Optic atrophy, Broad-based gait, Hyperactivity OMIM:619470
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Angioid streaks of the fundus, Thyroiditis, Hydrocele testis, Th... OMIM:158350
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment, Ataxia OMIM:271250
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral regu... OMIM:616648
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract, Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Alstrom Syndrome
Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response ... OMIM:203800
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Choroideremia, Progressive se... OMIM:303110
48,Xxyy Syndrome
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... ORPHA:10
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Mccune-Albright Syndrome
Decreased fertility, Irregular menstruation, Macroorchidism, Precocious puberty, Increased circul... ORPHA:562
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Weight loss, Palpitations, Tachycardia, Goiter OMIM:188580
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Hypertension, Goiter OMIM:231690
Maffucci Syndrome
Neoplasm of the adrenal cortex, Parathyroid adenoma, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Foxg1 Syndrome
Decreased body weight, Inability to walk, Stereotypical hand wringing, Optic disc hypoplasia, Cho... ORPHA:561854
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... ORPHA:226313
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compul... ORPHA:352490
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Lead Poisoning
Somatic sensory dysfunction, Small for gestational age, Decreased female libido, Infertility, Abn... ORPHA:330015
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Decreased response to growth hormone stimulation test, Decreased testicular size, Gait ... ORPHA:457240
Bardet-Biedl Syndrome 1
Attenuation of retinal blood vessels, Abdominal obesity, Hearing impairment, Rod-cone dystrophy, ... OMIM:209900
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration, Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Ogden Syndrome
Macrotia, Shuffling gait, Abnormal head movements, Cardiogenic shock, Arrhythmia, Cerebral atroph... ORPHA:276432
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, Global brain atrophy, EEG with generalized epileptiform... ORPHA:363558
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Retinitis Pigmentosa 38
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Peripheral retinal atrophy OMIM:613862
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Achondrogenesis Type 2
Abnormal bone ossification, Delayed vertebral ossification, Absent vertebral body mineralization,... ORPHA:93296
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Choreoa... ORPHA:391428
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Conjunctival telangi... ORPHA:95433
Cone-Rod Dystrophy 11
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent otitis media, Immotile sperm OMIM:618449
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hear... ORPHA:52368
Branchiootorenal Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... OMIM:113650
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Developmental And Epileptic Encephalopathy 28
Simplified gyral pattern, Retinal degeneration, Cerebral atrophy, Optic atrophy OMIM:616211
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
Pediatric-Onset Graves Disease
Sinus tachycardia, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Co... ORPHA:525731
Adult-Onset Autosomal Dominant Leukodystrophy
Impotence, Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Atr... ORPHA:99027
Bardet-Biedl Syndrome 17
Rod-cone dystrophy, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy,... OMIM:615994
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hashimoto thyr... ORPHA:83601
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Macular atroph... OMIM:616171
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Christianson Syndrome
Gait ataxia, Macrotia, Cerebral cortical atrophy, Truncal ataxia, Cachexia, Abnormal repetitive m... ORPHA:85278
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Weight loss ORPHA:142
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Refsum Disease, Classic
Somatic sensory dysfunction, Rod-cone dystrophy, Sensorineural hearing impairment, Retinal degene... OMIM:266500
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration, Thyroid hyper... OMIM:609152
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... OMIM:212550
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Optic atrophy OMIM:274270
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Agitation, Microcornea, Astigmatism, Cataract, Attention deficit hyp... OMIM:152950
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Usher Syndrome Type 1
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Iris h... ORPHA:231169
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Achromatopsia
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Abnormal repetitive mannerisms, Overweight, Difficulty walking, Cerebe... ORPHA:280763
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Ataxia, Testicular atrophy, Cerebellar atrophy OMIM:613909
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Blepharochalasis And Double Lip
Goiter OMIM:109900
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Autosomal Dominant Cerebellar Ataxia
Chorea, Somatic sensory dysfunction, Sensorineural hearing impairment, Akinesia, Retinal degenera... ORPHA:99
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Huntington Disease-Like 3
Chorea, Cerebral cortical atrophy, Abnormal head movements, Progressive gait ataxia, Caudate atro... ORPHA:157946
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204000
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Optic atrophy, Anterior hypopituitarism, Bilater... ORPHA:1435
Nephronophthisis 15
Retinal degeneration, Obesity OMIM:614845
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Hypoplastic helices, EEG abnormality, Abnormalit... ORPHA:391372
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility, Hearing impairment, Recurrent otitis media OMIM:619436
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder OMIM:619927
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis OMIM:257970
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Macrotia, Shuffling gait, Spastic gait, Choreoathetosis, Ataxia, Male hypogonadis... OMIM:300055
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges... ORPHA:411986
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract, Delayed ossification of carpal bones OMIM:127200
Autosomal Dominant Progressive External Ophthalmoplegia
Gait ataxia, Hypothyroidism, Goiter, Hyperthyroidism, Reduced left ventricular ejection fraction,... ORPHA:254892
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty walking, Abnorma... OMIM:601596
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria OMIM:618090
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Developmental cataract, Contracture of the proximal interphalangeal joint of the 5... OMIM:620141
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Abnormal antihelix morphology, Hypothyroidism, Thyroid hypoplasia, Failure to thrive, Ectopic thy... ORPHA:3047
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... OMIM:225250
Usher Syndrome Type 3
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Vestibular hypofunction, Abnorma... ORPHA:231183
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Smith-Magenis Syndrome
Hypothyroidism, Conductive hearing impairment, Precocious puberty, EEG abnormality, Gait disturba... ORPHA:819
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... OMIM:617241
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... ORPHA:424
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... OMIM:601455
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Nodular goiter, Hypertension, Type I diabetes mellitus, Polycystic ovaries, ... ORPHA:371428
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Retinal degeneration OMIM:616896
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Macrotia, Cerebral cortical atrophy, Rod-cone dystrophy, Heart murmur, Retinal degeneration, Cryp... ORPHA:166035
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Microtia, Decreased te... OMIM:146510
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Ataxia, Dysmetria, Cataract, Subc... OMIM:612674
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Reduced sperm motility, Macular atrophy OMIM:615434
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Recurrent hand flapping, Gait disturbance, Cerebellar atrophy, A... OMIM:618141
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hypogonadism, Abnormal repetitive mannerisms, Gonadal dysgenesis, Cryptorchid... ORPHA:3306
Medullary Thyroid Carcinoma
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma, ... ORPHA:1332
Cystinosis
Hypothyroidism, Retinopathy, Gait disturbance, Type I diabetes mellitus, Abnormal repetitive mann... ORPHA:213
Adult Krabbe Disease
Somatic sensory dysfunction, EEG abnormality, Impaired tactile sensation, Gait disturbance, Erect... ORPHA:206448
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Iris hypopigmentation, Ataxia, Polyphagia, Obesity, Broad-based gait ORPHA:411515
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... ORPHA:101085
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Recurrent otitis media, Abnormal repetitive mannerisms, Diabete... ORPHA:500159
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity OMIM:618160
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy, Head titubation, Ataxia ORPHA:370022
Senior-Loken Syndrome 9
Rod-cone dystrophy, Hypogonadism, Macular degeneration, Retinal dystrophy, Obesity OMIM:616629
Rett Syndrome
Increased serum leptin, Inability to walk, Stereotypical hand wringing, EEG abnormality, Abnormal... ORPHA:778
Phenylketonuria
Cataract, Attention deficit hyperactivity disorder, Blue irides, Hyperactivity OMIM:261600
Igg4-Related Thyroid Disease
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... ORPHA:64744
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome