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Gene: Pank2 MGI:1921700

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Gene Summary

Name:
pantothenate kinase 2
Synonyms:
4933409I19Rik

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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
abnormal spleen morphology Pank2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal auditory brainstem response Pank2em1(IMPC)Ccpcz HOM   Early adult 2.13×10-06
increased freezing behavior Pank2em1(IMPC)Ccpcz HOM Early adult 9.62×10-10
decreased CD8-positive, alpha-beta T cell number Pank2em1(IMPC)Ccpcz HOM   Early adult 8.60×10-05
male infertility Pank2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Pank2em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Pank2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Pank2em1(IMPC)Ccpcz HOM Early adult 7.95×10-05
female infertility Pank2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Pank2em1(IMPC)Ccpcz HOM Early adult 0.00
increased effector memory CD8-positive, alpha-beta T cell number Pank2em1(IMPC)Ccpcz HOM   Early adult 1.83×10-05
enlarged heart Pank2em1(IMPC)Ccpcz HOM Early adult 0.00
immune system phenotype Pank2em1(IMPC)Ccpcz HOM   Early adult 1.81×10-05

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lacZ Expression

Expression data not available

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

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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Human diseases caused by Pank2 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 Pank2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Optic atrophy, Blepharospasm, Choreoathetosis, Pigmentary retinopathy, Dystonia, Retinal ... OMIM:234200
Atypical Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Optic atrophy, Depression, Irritability, Compulsive behaviors, Dysphagia, Emotional ... ORPHA:216873
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Rod-c... ORPHA:216866
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Rod-cone dystrophy, Dystonia OMIM:607236

The table below shows human diseases predicted to be associated to Pank2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
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
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d... OMIM:615982
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia OMIM:268010
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Bardet-Biedl Syndrome 16
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retina... OMIM:615981
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
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, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... OMIM:602271
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells OMIM:269840
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Morm Syndrome
Truncal obesity, Micropenis, Retinal atrophy, Retinal dystrophy ORPHA:75858
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Rod-co... OMIM:615986
Ethanolaminosis
Cardiomegaly OMIM:227150
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Dystonia ORPHA:404451
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e... OMIM:601382
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog... OMIM:615994
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... ORPHA:244
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... ORPHA:208441
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Ceroid Lipofuscinosis, Neuronal, 5
Limb tremor, Retinal degeneration OMIM:256731
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hsd10 Mitochondrial Disease
Choreoathetosis, Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Hearing impairment, Situs inversus totalis, Hypothyroidism, Goiter OMIM:617577
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Senior-Loken Syndrome 9
Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy OMIM:616629
Mucolipidosis Iv
Optic atrophy, Hypergastrinemia, Retinal degeneration, Dystonia OMIM:252650
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Macrotia, Cardiomegaly OMIM:300886
Spinocerebellar Ataxia 7
Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger,... ORPHA:508533
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Alg6-Cdg
Puberty and gonadal disorders, Rod-cone dystrophy, Increased circulating androgen concentration, ... ORPHA:79320
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Obesity, Retinal degeneration OMIM:604360
Nephronophthisis 14
Retinal degeneration OMIM:614844
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Postural tremor, Hand tremor, Hypogonadism, Infertility, Oligomenorrhea, Type II... ORPHA:412057
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Sensorineural ... OMIM:222300
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Abnormal autonomic nervous system physiology, Cardiomegaly ORPHA:85447
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme... OMIM:618652
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration, Opisthotonus OMIM:616896
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Posterio... OMIM:300280
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic ... ORPHA:465508
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia, Hearing impairment ORPHA:858
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Absent brainstem auditory responses, External genital hypopla... ORPHA:79330
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Aganglionic megaco... OMIM:209900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Testicular atrophy OMIM:601163
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Rocker bottom foot,... OMIM:193700
Aarskog-Scott Syndrome
Short palm, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease,... OMIM:305400
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Macrotia, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Metaphyseal irregularity OMIM:269920
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility OMIM:615434
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Failure to thrive, Optic atrophy, Retinal degeneration ORPHA:442835
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Aceruloplasminemia
Blepharospasm, Torticollis, Diabetes mellitus, Retinal degeneration OMIM:604290
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Mend Syndrome
Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggressive beh... ORPHA:401973
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sensorineural hearing impairmen... OMIM:256550
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Ta... OMIM:601455
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Head titubation, Retinal atrophy, Retinal dystrophy ORPHA:370022
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Overfolded h... ORPHA:324410
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Combined Oxidative Phosphorylation Deficiency 8
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryp... OMIM:227650
Scheie Syndrome
Retinal degeneration OMIM:607016
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Hsd10 Disease, Infantile Type
Optic atrophy, Choreoathetosis, Dystonia, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio... OMIM:613807
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Sensorineural hearing impairment, Premature ovarian insufficiency, Fem... OMIM:619518
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Situs inversus totalis OMIM:300991
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Myotonic Dystrophy 1
Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... OMIM:160900
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... OMIM:239850
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Single transverse... OMIM:618143
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Werner Syndrome
Diabetes mellitus, Hypogonadism, Retinal degeneration OMIM:277700
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Diabetes mellitus, Tremor, Abnormal pancreas mo... ORPHA:48818
Trisomy 10P
Absent gallbladder, Thumb contracture, Posteriorly rotated ears, Abnormality of the hand, Abnorma... ORPHA:171929
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Retinal degeneration OMIM:615630
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Decreased fi... OMIM:616897
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Bull's eye maculopathy, Rod-cone dystrophy, Optic atrophy, Leg dystonia, Choreoathetosi... ORPHA:157850
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... OMIM:613320
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm... OMIM:614874
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger OMIM:617523
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Protruding ear, Depression, EEG abnormality, Hip dysplas... OMIM:618798
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... ORPHA:85451
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration OMIM:239000
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... OMIM:253250
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short long bone, Hypop... OMIM:617022
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga OMIM:109120
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Arm dystonia, Retinal degeneration ORPHA:79244
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Intention tremor ORPHA:284289
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormality of the hand, Abnormal auditory evoked potentials, Decreased nerve ... ORPHA:909
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis OMIM:619607
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Supernumer... ORPHA:1433
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Pr... OMIM:157640
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... ORPHA:101096
Cockayne Syndrome A
Hepatomegaly, Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, De... OMIM:216400
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Absent brainstem ... ORPHA:101085
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Situs inversus totalis OMIM:612444
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Dermatoglyphic ridges abnormal, Hepatic fibrosis, Atrial septal defect, He... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Dermatoglyphic ridges abnormal, Hepatic fibrosis, Atrial septal defect, He... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Dermatoglyphic ridges abnormal, Hepatic fibrosis, Atrial septal defect, He... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Dermatoglyphic ridges abnormal, Hepatic fibrosis, Atrial septal defect, He... ORPHA:99226
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... OMIM:110100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... OMIM:245600
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Joubert Syndrome 6
Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma OMIM:610688
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... OMIM:212140
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Cockayne Syndrome Type 1
Hepatomegaly, Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Abnormality of ... ORPHA:90321
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Tetralogy of Fallo... OMIM:601005
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyop... ORPHA:158687
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Impotence OMIM:268800
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:614702
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Impotence, Abnormal autonomic ner... OMIM:105210
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... ORPHA:3472
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Retin... OMIM:236670
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineural hearing impairment, Cardiom... OMIM:617713
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Cockayne Syndrome B
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Alpha-N-Acetylgalactosaminidase Deficiency
Hearing impairment, Cardiomegaly ORPHA:3137
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Trichothiodystrophy
Cryptorchidism, Macular degeneration, Gonadal dysgenesis, Retinal degeneration, Intention tremor ORPHA:33364
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervo... ORPHA:247234
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... ORPHA:1517
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, ... ORPHA:85450
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... ORPHA:2463
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Diabetes mellitus, Retinal atrophy, Retin... ORPHA:191
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia, Absent outer dynein arms, Situs inversus totalis, Conductive hearing ... OMIM:244400
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Thickened helices, Conductive hearing impairment, Hepatomegaly, Hypera... ORPHA:581
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hip dislocation, Self-injurious behavior, Dysphagia, Testicular atrophy OMIM:300322
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Tapered toe, Posteriorly rotated ears, Cardiomegaly, Tapered finger, Long... OMIM:608836
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability OMIM:616881
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction ORPHA:206448
Pgm3-Cdg
Hemolytic anemia, Mild neurosensory hearing impairment, Abnormal proportion of CD8-positive T cel... ORPHA:443811
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Ciliary Dyskinesia, Primary, 19
Male infertility, Situs inversus totalis, Absent inner and outer dynein arms OMIM:614935
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Decreased body weight, Premature ovarian insufficiency, Diab... ORPHA:79474
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Orthostatic hypotension, Obesity, Retinal degeneration ORPHA:2822
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... ORPHA:268
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Conductive hearing impairment, Atrial septal defect,... ORPHA:353281
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Coxa valga, Splenomegaly, Metaphyseal widening,... OMIM:252500
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Depression, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Microtia, Low-set... OMIM:608013
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Fai... ORPHA:79282
Say-Barber-Miller Syndrome
Cryptorchidism, Optic atrophy, Macular degeneration, Hypogonadism, Lingual dystonia, Rod-cone dys... ORPHA:3132
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ... ORPHA:57777
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsiv... OMIM:300967
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Microcy... OMIM:256040
Nephronophthisis 11
Retinal degeneration OMIM:613550
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Conductive hearing impairment,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Conductive hearing impairment,... ORPHA:353277
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Asymmetry of the ears, Cryptorchidism, Cupped ear, Slender... ORPHA:3063
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Hypothyroidism, Hearing impairment ORPHA:349
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Fucosidosis
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Low-set ears, Heari... OMIM:230000
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Optic atrophy, Blepharospasm, Choreoathetosis, Pigmentary retinopathy, Dystonia, Retinal ... OMIM:234200
Senior-Loken Syndrome 8
Pancreatic cysts, Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia OMIM:620306
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... OMIM:614921
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Absent scrotum, Retinal degeneration OMIM:618479
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Hurler Syndrome
Retinal degeneration OMIM:607014
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age, ... ORPHA:125
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Abnormality of periphe... ORPHA:90324
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... OMIM:130650
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Failure to thrive, Abnormal fundus morphology ORPHA:94147
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
Cystic Fibrosis
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Clubbing of... OMIM:219700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic fibrosis, Retinal degeneration, Bile duct proliferation, Pancreatic cysts OMIM:208500
Farber Disease
Macular degeneration, Cherry red spot of the macula, Failure to thrive ORPHA:333
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... ORPHA:3384
Atypical Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Optic atrophy, Depression, Irritability, Compulsive behaviors, Dysphagia, Emotional ... ORPHA:216873
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Rod-c... ORPHA:216866
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Hearing impairment, Cardiomegaly OMIM:232300
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist fl... ORPHA:97297
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hearing im... ORPHA:308552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration OMIM:253280
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Otosclerosis, Polycythemia, Cardiomegaly, Cryptorchidism... ORPHA:116
Aicardi-Goutières Syndrome
Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chroni... ORPHA:51
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial glycogen con... OMIM:261740
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Secondary... ORPHA:2785
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Alport Syndrome
Macular degeneration, Retinal flecks, Clitoral hypertrophy ORPHA:63
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Hepatic steatosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis,... ORPHA:14
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment epithelial mot... OMIM:219800
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Protruding ear, Compulsive behaviors, A... ORPHA:904
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Failure to thrive, Retinal dystrophy, Pancreatic cysts, Macular degeneration, Rod-cone dystrophy,... OMIM:266920
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Dysphagia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy,... ORPHA:365
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Rod-cone dystrophy, Dystonia OMIM:607236

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pank2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pank2.

No publications found that use IMPC mice or data for Pank2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pank2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pank2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pank2em1(IMPC)Ccpcz Exon Deletion Mice
Pank2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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